DECIPHER 1 Wolf-Hirschhorn Syndrome HP:0000252 DECIPHER:1 IEA O WOLF-HIRSCHHORN SYNDROME 2013-05-29 HPO:skoehler DECIPHER 1 Wolf-Hirschhorn Syndrome HP:0001249 DECIPHER:1 IEA O WOLF-HIRSCHHORN SYNDROME 2013-05-29 HPO:skoehler DECIPHER 1 Wolf-Hirschhorn Syndrome HP:0001250 DECIPHER:1 IEA O WOLF-HIRSCHHORN SYNDROME 2013-05-29 HPO:skoehler DECIPHER 1 Wolf-Hirschhorn Syndrome HP:0001252 DECIPHER:1 IEA O WOLF-HIRSCHHORN SYNDROME 2013-05-29 HPO:skoehler DECIPHER 1 Wolf-Hirschhorn Syndrome HP:0001518 DECIPHER:1 IEA O WOLF-HIRSCHHORN SYNDROME 2013-05-29 HPO:skoehler DECIPHER 14 Prader-Willi syndrome (Type 1) HP:0000135 DECIPHER:14 IEA O PRADER-WILLI SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 14 Prader-Willi syndrome (Type 1) HP:0001249 DECIPHER:14 IEA O PRADER-WILLI SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 14 Prader-Willi syndrome (Type 1) HP:0001252 DECIPHER:14 IEA O PRADER-WILLI SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 14 Prader-Willi syndrome (Type 1) HP:0001956 DECIPHER:14 IEA O PRADER-WILLI SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 14 Prader-Willi syndrome (Type 1) HP:0008872 DECIPHER:14 IEA O PRADER-WILLI SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 15 NF1-microdeletion syndrome HP:0000280 DECIPHER:15 IEA O NF1-MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 15 NF1-microdeletion syndrome HP:0000316 DECIPHER:15 IEA O NF1-MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 15 NF1-microdeletion syndrome HP:0000957 DECIPHER:15 IEA O NF1-MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 15 NF1-microdeletion syndrome HP:0001067 DECIPHER:15 IEA O NF1-MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 15 NF1-microdeletion syndrome HP:0001249 DECIPHER:15 IEA O NF1-MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 15 NF1-microdeletion syndrome HP:0001627 DECIPHER:15 IEA O NF1-MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0000750 DECIPHER:16 IEA O 22Q11 DELETION SYNDROME (VELOCARDIOFACIAL / DIGEORGE SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0001611 DECIPHER:16 IEA O 22Q11 DELETION SYNDROME (VELOCARDIOFACIAL / DIGEORGE SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0001627 DECIPHER:16 IEA O 22Q11 DELETION SYNDROME (VELOCARDIOFACIAL / DIGEORGE SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0002901 DECIPHER:16 IEA O 22Q11 DELETION SYNDROME (VELOCARDIOFACIAL / DIGEORGE SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0005403 DECIPHER:16 IEA O 22Q11 DELETION SYNDROME (VELOCARDIOFACIAL / DIGEORGE SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 17 Sotos syndrome HP:0000098 DECIPHER:17 IEA O SOTOS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 17 Sotos syndrome HP:0000256 DECIPHER:17 IEA O SOTOS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 17 Sotos syndrome HP:0000303 DECIPHER:17 IEA O SOTOS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 17 Sotos syndrome HP:0001249 DECIPHER:17 IEA O SOTOS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 17 Sotos syndrome HP:0005616 DECIPHER:17 IEA O SOTOS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 18 1p36 microdeletion syndrome HP:0000270 DECIPHER:18 IEA O 1P36 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 18 1p36 microdeletion syndrome HP:0000307 DECIPHER:18 IEA O 1P36 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 18 1p36 microdeletion syndrome HP:0000490 DECIPHER:18 IEA O 1P36 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 18 1p36 microdeletion syndrome HP:0001249 DECIPHER:18 IEA O 1P36 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 18 1p36 microdeletion syndrome HP:0001250 DECIPHER:18 IEA O 1P36 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 18 1p36 microdeletion syndrome HP:0001252 DECIPHER:18 IEA O 1P36 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 19 Potocki-Lupski syndrome (17p11.2 duplication syndrome) HP:0000717 DECIPHER:19 IEA O POTOCKI-LUPSKI SYNDROME (17P11.2 DUPLICATION SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 19 Potocki-Lupski syndrome (17p11.2 duplication syndrome) HP:0000736 DECIPHER:19 IEA O POTOCKI-LUPSKI SYNDROME (17P11.2 DUPLICATION SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 19 Potocki-Lupski syndrome (17p11.2 duplication syndrome) HP:0000752 DECIPHER:19 IEA O POTOCKI-LUPSKI SYNDROME (17P11.2 DUPLICATION SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 19 Potocki-Lupski syndrome (17p11.2 duplication syndrome) HP:0004322 DECIPHER:19 IEA O POTOCKI-LUPSKI SYNDROME (17P11.2 DUPLICATION SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 2 Cri du Chat Syndrome (5p deletion) HP:0000252 DECIPHER:2 IEA O CRI DU CHAT SYNDROME (5P DELETION) 2013-05-29 HPO:skoehler DECIPHER 2 Cri du Chat Syndrome (5p deletion) HP:0001249 DECIPHER:2 IEA O CRI DU CHAT SYNDROME (5P DELETION) 2013-05-29 HPO:skoehler DECIPHER 2 Cri du Chat Syndrome (5p deletion) HP:0001620 DECIPHER:2 IEA O CRI DU CHAT SYNDROME (5P DELETION) 2013-05-29 HPO:skoehler DECIPHER 20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0000717 DECIPHER:20 IEA O 22Q13 DELETION SYNDROME (PHELAN-MCDERMID SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0000750 DECIPHER:20 IEA O 22Q13 DELETION SYNDROME (PHELAN-MCDERMID SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0000752 DECIPHER:20 IEA O 22Q13 DELETION SYNDROME (PHELAN-MCDERMID SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0001249 DECIPHER:20 IEA O 22Q13 DELETION SYNDROME (PHELAN-MCDERMID SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 20 22q13 deletion syndrome (Phelan-Mcdermid syndrome) HP:0001252 DECIPHER:20 IEA O 22Q13 DELETION SYNDROME (PHELAN-MCDERMID SYNDROME) 2013-05-29 HPO:skoehler DECIPHER 21 Miller-Dieker syndrome (MDS) HP:0000252 DECIPHER:21 IEA O MILLER-DIEKER SYNDROME (MDS) 2013-05-29 HPO:skoehler DECIPHER 21 Miller-Dieker syndrome (MDS) HP:0001339 DECIPHER:21 IEA O MILLER-DIEKER SYNDROME (MDS) 2013-05-29 HPO:skoehler DECIPHER 21 Miller-Dieker syndrome (MDS) HP:0001627 DECIPHER:21 IEA O MILLER-DIEKER SYNDROME (MDS) 2013-05-29 HPO:skoehler DECIPHER 21 Miller-Dieker syndrome (MDS) HP:0002007 DECIPHER:21 IEA O MILLER-DIEKER SYNDROME (MDS) 2013-05-29 HPO:skoehler DECIPHER 21 Miller-Dieker syndrome (MDS) HP:0011800 DECIPHER:21 IEA O MILLER-DIEKER SYNDROME (MDS) 2013-05-29 HPO:skoehler DECIPHER 29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0001761 DECIPHER:29 IEA O CHARCOT-MARIE-TOOTH SYNDROME TYPE 1A (CMT1A) 2013-05-29 HPO:skoehler DECIPHER 29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0002450 DECIPHER:29 IEA O CHARCOT-MARIE-TOOTH SYNDROME TYPE 1A (CMT1A) 2013-05-29 HPO:skoehler DECIPHER 29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0002495 DECIPHER:29 IEA O CHARCOT-MARIE-TOOTH SYNDROME TYPE 1A (CMT1A) 2013-05-29 HPO:skoehler DECIPHER 29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0003382 DECIPHER:29 IEA O CHARCOT-MARIE-TOOTH SYNDROME TYPE 1A (CMT1A) 2013-05-29 HPO:skoehler DECIPHER 29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0003431 DECIPHER:29 IEA O CHARCOT-MARIE-TOOTH SYNDROME TYPE 1A (CMT1A) 2013-05-29 HPO:skoehler DECIPHER 29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0007328 DECIPHER:29 IEA O CHARCOT-MARIE-TOOTH SYNDROME TYPE 1A (CMT1A) 2013-05-29 HPO:skoehler DECIPHER 29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0010829 DECIPHER:29 IEA O CHARCOT-MARIE-TOOTH SYNDROME TYPE 1A (CMT1A) 2013-05-29 HPO:skoehler DECIPHER 29 Charcot-Marie-Tooth syndrome type 1A (CMT1A) HP:0010831 DECIPHER:29 IEA O CHARCOT-MARIE-TOOTH SYNDROME TYPE 1A (CMT1A) 2013-05-29 HPO:skoehler DECIPHER 3 Williams-Beuren Syndrome (WBS) HP:0000232 DECIPHER:3 IEA O WILLIAMS-BEUREN SYNDROME (WBS) 2013-05-29 HPO:skoehler DECIPHER 3 Williams-Beuren Syndrome (WBS) HP:0000272 DECIPHER:3 IEA O WILLIAMS-BEUREN SYNDROME (WBS) 2013-05-29 HPO:skoehler DECIPHER 3 Williams-Beuren Syndrome (WBS) HP:0000691 DECIPHER:3 IEA O WILLIAMS-BEUREN SYNDROME (WBS) 2013-05-29 HPO:skoehler DECIPHER 3 Williams-Beuren Syndrome (WBS) HP:0000736 DECIPHER:3 IEA O WILLIAMS-BEUREN SYNDROME (WBS) 2013-05-29 HPO:skoehler DECIPHER 3 Williams-Beuren Syndrome (WBS) HP:0001249 DECIPHER:3 IEA O WILLIAMS-BEUREN SYNDROME (WBS) 2013-05-29 HPO:skoehler DECIPHER 3 Williams-Beuren Syndrome (WBS) HP:0001650 DECIPHER:3 IEA O WILLIAMS-BEUREN SYNDROME (WBS) 2013-05-29 HPO:skoehler DECIPHER 3 Williams-Beuren Syndrome (WBS) HP:0004322 DECIPHER:3 IEA O WILLIAMS-BEUREN SYNDROME (WBS) 2013-05-29 HPO:skoehler DECIPHER 31 Hereditary Liability to Pressure Palsies (HNPP) HP:0002450 DECIPHER:31 IEA O HEREDITARY LIABILITY TO PRESSURE PALSIES (HNPP) 2013-05-29 HPO:skoehler DECIPHER 31 Hereditary Liability to Pressure Palsies (HNPP) HP:0012078 DECIPHER:31 IEA O HEREDITARY LIABILITY TO PRESSURE PALSIES (HNPP) 2013-05-29 HPO:skoehler DECIPHER 32 22q11 duplication syndrome HP:0000506 DECIPHER:32 IEA O 22Q11 DUPLICATION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 32 22q11 duplication syndrome HP:0001249 DECIPHER:32 IEA O 22Q11 DUPLICATION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 32 22q11 duplication syndrome HP:0001611 DECIPHER:32 IEA O 22Q11 DUPLICATION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 34 Potocki-Shaffer syndrome HP:0000270 DECIPHER:34 IEA O POTOCKI-SHAFFER SYNDROME 2013-05-29 HPO:skoehler DECIPHER 34 Potocki-Shaffer syndrome HP:0001249 DECIPHER:34 IEA O POTOCKI-SHAFFER SYNDROME 2013-05-29 HPO:skoehler DECIPHER 34 Potocki-Shaffer syndrome HP:0002697 DECIPHER:34 IEA O POTOCKI-SHAFFER SYNDROME 2013-05-29 HPO:skoehler DECIPHER 34 Potocki-Shaffer syndrome HP:0002762 DECIPHER:34 IEA O POTOCKI-SHAFFER SYNDROME 2013-05-29 HPO:skoehler DECIPHER 34 Potocki-Shaffer syndrome HP:0010461 DECIPHER:34 IEA O POTOCKI-SHAFFER SYNDROME 2013-05-29 HPO:skoehler DECIPHER 35 WAGR 11p13 deletion syndrome HP:0000526 DECIPHER:35 IEA O WAGR 11P13 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 35 WAGR 11p13 deletion syndrome HP:0001249 DECIPHER:35 IEA O WAGR 11P13 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 35 WAGR 11p13 deletion syndrome HP:0009726 DECIPHER:35 IEA O WAGR 11P13 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 35 WAGR 11p13 deletion syndrome HP:0010461 DECIPHER:35 IEA O WAGR 11P13 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 37 3q29 microdeletion syndrome HP:0000276 DECIPHER:37 IEA O 3Q29 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 37 3q29 microdeletion syndrome HP:0000322 DECIPHER:37 IEA O 3Q29 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 37 3q29 microdeletion syndrome HP:0000426 DECIPHER:37 IEA O 3Q29 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 37 3q29 microdeletion syndrome HP:0001249 DECIPHER:37 IEA O 3Q29 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 38 Pelizaeus-Merzbacher disease HP:0000639 DECIPHER:38 IEA O PELIZAEUS-MERZBACHER DISEASE 2013-05-29 HPO:skoehler DECIPHER 38 Pelizaeus-Merzbacher disease HP:0001252 DECIPHER:38 IEA O PELIZAEUS-MERZBACHER DISEASE 2013-05-29 HPO:skoehler DECIPHER 38 Pelizaeus-Merzbacher disease HP:0002415 DECIPHER:38 IEA O PELIZAEUS-MERZBACHER DISEASE 2013-05-29 HPO:skoehler DECIPHER 39 8p23.1 deletion syndrome HP:0000028 DECIPHER:39 IEA O 8P23.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 39 8p23.1 deletion syndrome HP:0000752 DECIPHER:39 IEA O 8P23.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 39 8p23.1 deletion syndrome HP:0000776 DECIPHER:39 IEA O 8P23.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 39 8p23.1 deletion syndrome HP:0001249 DECIPHER:39 IEA O 8P23.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 39 8p23.1 deletion syndrome HP:0001631 DECIPHER:39 IEA O 8P23.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 39 8p23.1 deletion syndrome HP:0006695 DECIPHER:39 IEA O 8P23.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 4 Angelman syndrome (Type 1) HP:0000252 DECIPHER:4 IEA O ANGELMAN SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 4 Angelman syndrome (Type 1) HP:0001249 DECIPHER:4 IEA O ANGELMAN SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 4 Angelman syndrome (Type 1) HP:0001250 DECIPHER:4 IEA O ANGELMAN SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 4 Angelman syndrome (Type 1) HP:0002078 DECIPHER:4 IEA O ANGELMAN SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 4 Angelman syndrome (Type 1) HP:0002353 DECIPHER:4 IEA O ANGELMAN SYNDROME (TYPE 1) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0000347 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0000384 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0000494 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0000612 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0001249 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0001627 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0002023 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0004322 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 42 Cat-Eye Syndrome (Type I) HP:0004467 DECIPHER:42 IEA O CAT-EYE SYNDROME (TYPE I) 2013-05-29 HPO:skoehler DECIPHER 43 7q11.23 duplication syndrome HP:0000736 DECIPHER:43 IEA O 7Q11.23 DUPLICATION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 43 7q11.23 duplication syndrome HP:0000750 DECIPHER:43 IEA O 7Q11.23 DUPLICATION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 43 7q11.23 duplication syndrome HP:0001249 DECIPHER:43 IEA O 7Q11.23 DUPLICATION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 44 2q37 monosomy HP:0000219 DECIPHER:44 IEA O 2Q37 MONOSOMY 2013-05-29 HPO:skoehler DECIPHER 44 2q37 monosomy HP:0000311 DECIPHER:44 IEA O 2Q37 MONOSOMY 2013-05-29 HPO:skoehler DECIPHER 44 2q37 monosomy HP:0000490 DECIPHER:44 IEA O 2Q37 MONOSOMY 2013-05-29 HPO:skoehler DECIPHER 44 2q37 monosomy HP:0001156 DECIPHER:44 IEA O 2Q37 MONOSOMY 2013-05-29 HPO:skoehler DECIPHER 44 2q37 monosomy HP:0001249 DECIPHER:44 IEA O 2Q37 MONOSOMY 2013-05-29 HPO:skoehler DECIPHER 45 Xq28 (MECP2) duplication HP:0000009 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000160 PMID:17088400 PCS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000248 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000252 PMID:17088400 PCS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000272 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000400 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000716 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000717 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000733 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0000739 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0001250 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0001263 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0001319 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-13 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0001344 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0001419 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS I XQ28 (MECP2) DUPLICATION 2010-09-13 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0001508 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002015 PMID:17088400 PCS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002019 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002020 PMID:17088400 PCS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002066 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002079 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002191 PMID:17088400 PCS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002205 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002307 PMID:17088400 PCS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002540 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0002720 PMID:17088400 PCS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0003819 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS M XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0005280 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0008872 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup TAS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 45 Xq28 (MECP2) duplication HP:0010864 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup; PMID:17088400 PCS O XQ28 (MECP2) DUPLICATION 2010-09-15 HPO:curators DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0000078 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0000079 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0000161 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0000175 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0000407 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0001171 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0001839 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0004691 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0007925 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 46 Split hand/foot malformation 1 (SHFM1) HP:0010554 DECIPHER:46 IEA O SPLIT HAND/FOOT MALFORMATION 1 (SHFM1) 2013-05-29 HPO:skoehler DECIPHER 47 RCAD (renal cysts and diabetes) HP:0000819 DECIPHER:47 IEA O RCAD (RENAL CYSTS AND DIABETES) 2013-05-29 HPO:skoehler DECIPHER 47 RCAD (renal cysts and diabetes) HP:0001392 DECIPHER:47 IEA O RCAD (RENAL CYSTS AND DIABETES) 2013-05-29 HPO:skoehler DECIPHER 47 RCAD (renal cysts and diabetes) HP:0005562 DECIPHER:47 IEA O RCAD (RENAL CYSTS AND DIABETES) 2013-05-29 HPO:skoehler DECIPHER 48 Early-onset Alzheimer disease with cerebral amyloid angiopathy HP:0000726 DECIPHER:48 IEA O EARLY-ONSET ALZHEIMER DISEASE WITH CEREBRAL AMYLOID ANGIOPATHY 2013-05-29 HPO:skoehler DECIPHER 48 Early-onset Alzheimer disease with cerebral amyloid angiopathy HP:0002185 DECIPHER:48 IEA O EARLY-ONSET ALZHEIMER DISEASE WITH CEREBRAL AMYLOID ANGIOPATHY 2013-05-29 HPO:skoehler DECIPHER 48 Early-onset Alzheimer disease with cerebral amyloid angiopathy HP:0100256 DECIPHER:48 IEA O EARLY-ONSET ALZHEIMER DISEASE WITH CEREBRAL AMYLOID ANGIOPATHY 2013-05-29 HPO:skoehler DECIPHER 51 2q33.1 deletion syndrome HP:0000023 DECIPHER:51 IEA O 2Q33.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 51 2q33.1 deletion syndrome HP:0000175 DECIPHER:51 IEA O 2Q33.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 51 2q33.1 deletion syndrome HP:0000218 DECIPHER:51 IEA O 2Q33.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 51 2q33.1 deletion syndrome HP:0000708 DECIPHER:51 IEA O 2Q33.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 51 2q33.1 deletion syndrome HP:0001249 DECIPHER:51 IEA O 2Q33.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 51 2q33.1 deletion syndrome HP:0001250 DECIPHER:51 IEA O 2Q33.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 51 2q33.1 deletion syndrome HP:0004322 DECIPHER:51 IEA O 2Q33.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 51 2q33.1 deletion syndrome HP:0008872 DECIPHER:51 IEA O 2Q33.1 DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0000252 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0000463 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0000664 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0001249 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0001252 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0001627 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0003196 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0010808 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 52 9q subtelomeric deletion syndrome HP:0011800 DECIPHER:52 IEA O 9Q SUBTELOMERIC DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 53 Prader-Willi Syndrome (Type 2) HP:0000135 DECIPHER:53 IEA O PRADER-WILLI SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 53 Prader-Willi Syndrome (Type 2) HP:0001249 DECIPHER:53 IEA O PRADER-WILLI SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 53 Prader-Willi Syndrome (Type 2) HP:0001252 DECIPHER:53 IEA O PRADER-WILLI SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 53 Prader-Willi Syndrome (Type 2) HP:0001956 DECIPHER:53 IEA O PRADER-WILLI SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 53 Prader-Willi Syndrome (Type 2) HP:0008872 DECIPHER:53 IEA O PRADER-WILLI SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 54 Angelman syndrome (Type 2) HP:0000252 DECIPHER:54 IEA O ANGELMAN SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 54 Angelman syndrome (Type 2) HP:0001249 DECIPHER:54 IEA O ANGELMAN SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 54 Angelman syndrome (Type 2) HP:0001250 DECIPHER:54 IEA O ANGELMAN SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 54 Angelman syndrome (Type 2) HP:0002078 DECIPHER:54 IEA O ANGELMAN SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 54 Angelman syndrome (Type 2) HP:0002353 DECIPHER:54 IEA O ANGELMAN SYNDROME (TYPE 2) 2013-05-29 HPO:skoehler DECIPHER 57 17q21.31 recurrent microdeletion syndrome HP:0000276 DECIPHER:57 IEA O 17Q21.31 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 57 17q21.31 recurrent microdeletion syndrome HP:0001249 DECIPHER:57 IEA O 17Q21.31 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 57 17q21.31 recurrent microdeletion syndrome HP:0001252 DECIPHER:57 IEA O 17Q21.31 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 57 17q21.31 recurrent microdeletion syndrome HP:0001518 DECIPHER:57 IEA O 17Q21.31 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 57 17q21.31 recurrent microdeletion syndrome HP:0008872 DECIPHER:57 IEA O 17Q21.31 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 58 Leri-Weill dyschondrostosis (LWD) - SHOX deletion HP:0002986 DECIPHER:58 IEA O LERI-WEILL DYSCHONDROSTOSIS (LWD) - SHOX DELETION 2013-05-29 HPO:skoehler DECIPHER 58 Leri-Weill dyschondrostosis (LWD) - SHOX deletion HP:0003067 DECIPHER:58 IEA O LERI-WEILL DYSCHONDROSTOSIS (LWD) - SHOX DELETION 2013-05-29 HPO:skoehler DECIPHER 58 Leri-Weill dyschondrostosis (LWD) - SHOX deletion HP:0006394 DECIPHER:58 IEA O LERI-WEILL DYSCHONDROSTOSIS (LWD) - SHOX DELETION 2013-05-29 HPO:skoehler DECIPHER 58 Leri-Weill dyschondrostosis (LWD) - SHOX deletion HP:0008873 DECIPHER:58 IEA O LERI-WEILL DYSCHONDROSTOSIS (LWD) - SHOX DELETION 2013-05-29 HPO:skoehler DECIPHER 59 Adult-onset autosomal dominant leukodystrophy (ADLD) HP:0002415 DECIPHER:59 IEA O ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 2013-05-29 HPO:skoehler DECIPHER 59 Adult-onset autosomal dominant leukodystrophy (ADLD) HP:0002459 DECIPHER:59 IEA O ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 2013-05-29 HPO:skoehler DECIPHER 59 Adult-onset autosomal dominant leukodystrophy (ADLD) HP:0007256 DECIPHER:59 IEA O ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 2013-05-29 HPO:skoehler DECIPHER 59 Adult-onset autosomal dominant leukodystrophy (ADLD) HP:0011096 DECIPHER:59 IEA O ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 2013-05-29 HPO:skoehler DECIPHER 62 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) HP:0000252 DECIPHER:62 IEA O 1Q21.1 RECURRENT MICRODELETION (SUSCEPTIBILITY LOCUS FOR NEURODEVELOPMENTAL DISORDERS) 2013-05-29 HPO:skoehler DECIPHER 62 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) HP:0001249 DECIPHER:62 IEA O 1Q21.1 RECURRENT MICRODELETION (SUSCEPTIBILITY LOCUS FOR NEURODEVELOPMENTAL DISORDERS) 2013-05-29 HPO:skoehler DECIPHER 65 ATR-16 syndrome HP:0001249 DECIPHER:65 IEA O ATR-16 SYNDROME 2013-05-29 HPO:skoehler DECIPHER 65 ATR-16 syndrome HP:0001877 DECIPHER:65 IEA O ATR-16 SYNDROME 2013-05-29 HPO:skoehler DECIPHER 66 15q24 recurrent microdeletion syndrome HP:0000047 DECIPHER:66 IEA O 15Q24 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 66 15q24 recurrent microdeletion syndrome HP:0000252 DECIPHER:66 IEA O 15Q24 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 66 15q24 recurrent microdeletion syndrome HP:0000271 DECIPHER:66 IEA O 15Q24 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 66 15q24 recurrent microdeletion syndrome HP:0001249 DECIPHER:66 IEA O 15Q24 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 66 15q24 recurrent microdeletion syndrome HP:0001388 DECIPHER:66 IEA O 15Q24 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 66 15q24 recurrent microdeletion syndrome HP:0001518 DECIPHER:66 IEA O 15Q24 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 66 15q24 recurrent microdeletion syndrome HP:0004322 DECIPHER:66 IEA O 15Q24 RECURRENT MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 67 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) HP:0000717 DECIPHER:67 IEA O 1Q21.1 RECURRENT MICRODUPLICATION (POSSIBLE SUSCEPTIBILITY LOCUS FOR NEURODEVELOPMENTAL DISORDERS) 2013-05-29 HPO:skoehler DECIPHER 67 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) HP:0001249 DECIPHER:67 IEA O 1Q21.1 RECURRENT MICRODUPLICATION (POSSIBLE SUSCEPTIBILITY LOCUS FOR NEURODEVELOPMENTAL DISORDERS) 2013-05-29 HPO:skoehler DECIPHER 68 16p11.2-p12.2 microdeletion syndrome HP:0000307 DECIPHER:68 IEA O 16P11.2-P12.2 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 68 16p11.2-p12.2 microdeletion syndrome HP:0001249 DECIPHER:68 IEA O 16P11.2-P12.2 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 68 16p11.2-p12.2 microdeletion syndrome HP:0008872 DECIPHER:68 IEA O 16P11.2-P12.2 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0000126 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0000252 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0000494 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0000506 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0000508 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0001249 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0007766 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0008872 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 70 2p15-16.1 microdeletion syndrome HP:0100490 DECIPHER:70 IEA O 2P15-16.1 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 72 22q11.2 distal deletion syndrome HP:0000271 DECIPHER:72 IEA O 22Q11.2 DISTAL DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 72 22q11.2 distal deletion syndrome HP:0001249 DECIPHER:72 IEA O 22Q11.2 DISTAL DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 72 22q11.2 distal deletion syndrome HP:0001518 DECIPHER:72 IEA O 22Q11.2 DISTAL DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 72 22q11.2 distal deletion syndrome HP:0004322 DECIPHER:72 IEA O 22Q11.2 DISTAL DELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 74 15q13.3 microdeletion syndrome HP:0000271 DECIPHER:74 IEA O 15Q13.3 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 74 15q13.3 microdeletion syndrome HP:0001249 DECIPHER:74 IEA O 15Q13.3 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 74 15q13.3 microdeletion syndrome HP:0001250 DECIPHER:74 IEA O 15Q13.3 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 76 12q14 microdeletion syndrome HP:0001249 DECIPHER:76 IEA O 12Q14 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 76 12q14 microdeletion syndrome HP:0003508 DECIPHER:76 IEA O 12Q14 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 76 12q14 microdeletion syndrome HP:0010739 DECIPHER:76 IEA O 12Q14 MICRODELETION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0000733 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0000742 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0000752 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0001156 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0001249 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0001252 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0001609 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0002360 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 8 Smith-Magenis Syndrome HP:0004322 DECIPHER:8 IEA O SMITH-MAGENIS SYNDROME 2013-05-29 HPO:skoehler DECIPHER 81 15q26 overgrowth syndrome HP:0000076 PMID:19133692 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000085 PMID:19133692;PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000104 PMID:19133692 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000113 PMID:19133692 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000126 PMID:19133692 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000218 PMID:10951463 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000256 PMID:12404101 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000276 PMID:12404101;PMID:19133692;PMID:20603595 PCS HP:0040281 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000293 PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000303 PMID:19133692;PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000324 PMID:10951463;PMID:12404101 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000325 PMID:12404101 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2011-04-03 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000343 PMID:10951463 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000347 PMID:10951463 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000369 PMID:12404101 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000377 PMID:12404101 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000407 PMID:10951463 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000414 PMID:10951463 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000431 PMID:10951463 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000448 PMID:12404101;PMID:19133692;PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000470 PMID:12404101 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000486 PMID:19133692 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0000494 PMID:10951463;PMID:12404101 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0001156 PMID:12404101;PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0001166 PMID:10951463;PMID:12404101;PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0001182 PMID:12404101;PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0001249 PMID:19133692;PMID:12404101 PCS HP:0040281 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0001363 PMID:19133692 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0001382 PMID:12404101 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0001548 PMID:19133692;PMID:12404101 PCS HP:0040282 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0002167 PMID:20603595 PCS HP:0040281 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0002650 PMID:12404101;PMID:19133692;PMID:19262081 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0005580 PMID:19133692 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0009890 PMID:19133692 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0010511 PMID:10951463 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0030680 PMID:10951463,PMID:12404101;PMID:19133692;PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 81 15q26 overgrowth syndrome HP:0100490 PMID:12404101;PMID:20603595 PCS HP:0040284 O 15Q26 OVERGROWTH SYNDROME 2012-04-24 HPO:curators DECIPHER 85 8p23.1 duplication syndrome HP:0000750 DECIPHER:85 IEA O 8P23.1 DUPLICATION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 85 8p23.1 duplication syndrome HP:0001249 DECIPHER:85 IEA O 8P23.1 DUPLICATION SYNDROME 2013-05-29 HPO:skoehler DECIPHER 92 Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) HP:0000252 DECIPHER:92 IEA O RECURRENT 16P12.1 MICRODELETION (NEURODEVELOPMENTAL SUSCEPTIBILITY LOCUS) 2013-05-29 HPO:skoehler DECIPHER 92 Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) HP:0000750 DECIPHER:92 IEA O RECURRENT 16P12.1 MICRODELETION (NEURODEVELOPMENTAL SUSCEPTIBILITY LOCUS) 2013-05-29 HPO:skoehler DECIPHER 92 Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) HP:0001249 DECIPHER:92 IEA O RECURRENT 16P12.1 MICRODELETION (NEURODEVELOPMENTAL SUSCEPTIBILITY LOCUS) 2013-05-29 HPO:skoehler OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000028 OMIM:100050 IEA O 2009-07-24 HPO:skoehler OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000049 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000175 OMIM:100050 TAS O 2012-07-16 HPO:probinson OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000202 OMIM:100050 IEA O 2010-06-18 HPO:skoehler OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000204 OMIM:100050 TAS O 2009-02-17 HPO:probinson OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000316 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000327 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000343 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000349 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000394 OMIM:100050 TAS O 2009-02-17 HPO:probinson OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000431 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000463 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000484 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000486 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000494 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000508 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000602 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000765 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000954 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0000974 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001004 OMIM:100050 TAS O 2009-02-17 HPO:probinson OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001156 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001159 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001371 OMIM:100050 IEA O 2012-10-09 HPO:skoehler OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001388 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001394 OMIM:100050 IEA O 2010-06-20 HPO:skoehler OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001417 OMIM:100050 IEA I 2012-11-16 HPO:skoehler OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001470 OMIM:100050 IEA I 2012-11-16 HPO:skoehler OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001763 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0001972 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0002023 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0002055 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0002240 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0002816 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0003318 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0003502 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0004792 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0005190 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0006530 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0009466 OMIM:100050 IEA O 2009-02-17 HPO:curators OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0010886 OMIM:100050 IEA O 2012-10-09 HPO:skoehler OMIM 100050 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT HP:0030084 OMIM:100050 IEA O 2014-09-21 HPO:skoehler OMIM 100070 AORTIC ANEURYSM, ABDOMINAL HP:0004953 OMIM:100070 TAS O 2009-02-17 HPO:probinson OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0000007 OMIM:100100 IEA I 2012-10-09 HPO:skoehler OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0000028 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0000072 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0000126 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0000217 OMIM:100100 IEA O 2012-10-09 HPO:skoehler OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0000767 OMIM:100100 IEA O 2012-10-09 HPO:skoehler OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0000768 OMIM:100100 IEA O 2012-10-09 HPO:skoehler OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0000951 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0001374 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0001562 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0001627 OMIM:100100 IEA O 2015-12-30 HPO:skoehler OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0001643 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0001762 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0002023 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0004392 OMIM:100100 IEA O 2012-10-09 HPO:skoehler OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0005199 OMIM:100100 IEA O 2009-02-17 HPO:curators OMIM 100100 #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS HP:0010957 OMIM:100100 IEA O 2012-10-09 HPO:skoehler OMIM 100200 ABDUCENS PALSY HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 100200 ABDUCENS PALSY HP:0000486 IEA O 2009-02-17 HPO:curators OMIM 100200 ABDUCENS PALSY HP:0011349 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0000006 PMID:9823488 PCS I 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0000175 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0000204 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0000252 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0000565 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0000568 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0000965 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001156 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001249 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001250 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001263 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001290 OMIM:100300 IEA O 2017-07-13 HPO:skoehler OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001302 OMIM:100300 IEA O 2010-06-18 HPO:skoehler OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001362 OMIM:100300 TAS O 2009-02-17 HPO:probinson OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001596 OMIM:100300 TAS O 2009-02-17 HPO:probinson OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001629 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001631 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001636 PMID:9823488 PCS O 2017-06-16 HPO:probinson OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001642 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001647 PMID:9823488 PCS O 2017-06-16 HPO:probinson OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001650 PMID:9823488 PCS O 2017-06-16 HPO:probinson OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001762 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001770 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0001792 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0002079 OMIM:100300 IEA O 2010-06-18 HPO:skoehler OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0002084 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0002092 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0002119 OMIM:100300 IEA O 2010-06-18 HPO:skoehler OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0002126 OMIM:100300 IEA O 2010-06-18 HPO:skoehler OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0002539 OMIM:100300 IEA O 2010-06-18 HPO:skoehler OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0002558 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0002558 OMIM:100300 TAS O 2017-06-16 HPO:probinson OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0003812 OMIM:100300 IEA C 2010-06-19 HPO:skoehler OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0004383 PMID:9823488 PCS O 2017-06-16 HPO:probinson OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0004415 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0006970 OMIM:100300 IEA O 2010-06-20 HPO:skoehler OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0007589 OMIM:100300 IEA O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0007590 PMID:1424238 PCS O 2009-02-17 HPO:curators OMIM 100300 ADAMS-OLIVER SYNDROME 1 HP:0030011 OMIM:100300 TAS O 2017-06-16 HPO:probinson OMIM 100600 ACANTHOSIS NIGRICANS HP:0000006 OMIM:100600 IEA I 2009-02-17 HPO:curators OMIM 100600 ACANTHOSIS NIGRICANS HP:0000956 OMIM:100600 IEA O 2009-02-17 HPO:curators OMIM 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY HP:0000006 OMIM:100650 IEA I 2017-07-13 HPO:skoehler OMIM 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY HP:0001033 OMIM:100650 IEA O 2015-10-05 HPO:skoehler OMIM 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY HP:0003533 OMIM:100650 IEA O 2015-10-05 HPO:skoehler OMIM 100675 ACETAMINOPHEN METABOLISM HP:0000006 OMIM:100675 IEA I 2017-07-13 HPO:skoehler OMIM 100675 ACETAMINOPHEN METABOLISM HP:0000952 OMIM:100675 IEA O 2017-07-13 HPO:skoehler OMIM 100700 ACHARD SYNDROME HP:0000006 OMIM:100700 IEA I 2009-02-17 HPO:curators OMIM 100700 ACHARD SYNDROME HP:0000248 OMIM:100700 IEA O 2009-02-17 HPO:curators OMIM 100700 ACHARD SYNDROME HP:0000347 OMIM:100700 IEA O 2009-02-17 HPO:curators OMIM 100700 ACHARD SYNDROME HP:0001166 OMIM:100700 IEA O 2009-02-17 HPO:curators OMIM 100700 ACHARD SYNDROME HP:0001388 OMIM:100700 TAS O 2009-02-17 HPO:probinson OMIM 100700 ACHARD SYNDROME HP:0002682 OMIM:100700 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0000238 OMIM:100800 TAS HP:0040283 O 2012-04-17 HPO:probinson OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0000272 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0000403 OMIM:100800 TAS O 2012-04-17 HPO:probinson OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0000405 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0001156 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0001270 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0001355 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0001377 OMIM:100800 TAS O 2012-04-17 HPO:probinson OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0002007 OMIM:100800 TAS O 2012-04-17 HPO:probinson OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0002512 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0002677 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0002761 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0002781 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0002938 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0002970 OMIM:100800 TAS O 2012-04-17 HPO:probinson OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0003015 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0003093 OMIM:100800 TAS O 2012-04-17 HPO:probinson OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0004060 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0005280 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0005733 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0008414 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0008905 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0008921 OMIM:100800 TAS O 2012-04-17 HPO:probinson OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0008947 IEA O 2009-02-17 HPO:curators OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0011800 OMIM:100800 IEA O 2013-11-28 HPO:skoehler OMIM 100800 #100800 ACHONDROPLASIA; ACH HP:0100864 IEA O 2009-02-17 HPO:curators OMIM 100820 ACHOO SYNDROME HP:0000006 OMIM:100820 IEA I 2009-02-17 HPO:curators OMIM 100820 ACHOO SYNDROME HP:0000707 OMIM:100820 IEA O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0000006 OMIM:101000 IEA I 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0000360 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0000365 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0000957 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0001251 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0002315 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0002858 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0002888 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0007876 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0007935 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0009589 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0009590 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0009592 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0009593 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0009594 OMIM:101000 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0009595 OMIM:101000 IEA HP:0040283 O 2009-02-17 HPO:curators OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0009830 OMIM:101000 IEA O 2013-05-03 HPO:skoehler OMIM 101000 #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN HP:0100014 OMIM:101000 IEA O 2013-05-31 HPO:skoehler OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000006 OMIM:101120 IEA I 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000263 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000272 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000274 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000303 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000316 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000327 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000369 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000377 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000470 OMIM:101120 TAS O 2009-02-17 HPO:probinson OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000586 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0000678 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0001159 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0001177 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0001363 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0009816 OMIM:101120 IEA O 2009-02-17 HPO:curators OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0010055 OMIM:101120 TAS O 2012-06-08 HPO:probinson OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0011304 OMIM:101120 TAS O 2009-02-17 HPO:probinson OMIM 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0012368 OMIM:101120 IEA O 2017-07-13 HPO:skoehler OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000006 OMIM:101200 IEA I 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000028 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000126 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000148 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000175 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000189 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000193 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000238 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000239 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000244 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000270 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000272 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000303 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000316 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000337 OMIM:101200 TAS O 2012-05-01 HPO:probinson OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000348 OMIM:101200 TAS O 2012-05-01 HPO:probinson OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000365 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000389 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000452 OMIM:101200 TAS O 2012-04-24 HPO:probinson OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000453 OMIM:101200 TAS O 2010-06-18 HPO:skoehler OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000486 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000494 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000586 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000684 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0000689 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001061 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001162 OMIM:101200 TAS HP:0040283 O 2012-04-24 HPO:probinson OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001177 OMIM:101200 TAS HP:0040283 O 2012-04-24 HPO:probinson OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001249 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001274 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001331 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001355 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001507 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0001629 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0002021 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0002032 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0002119 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0002623 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0003041 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0004397 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0004440 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0004468 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0004487 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0004635 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0005048 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0005280 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0007099 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0007291 OMIM:101200 TAS O 2012-04-24 HPO:probinson OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0007343 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0008111 OMIM:101200 IEA O 2009-02-17 HPO:curators OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0009642 OMIM:101200 TAS O 2012-04-24 HPO:probinson OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0010554 OMIM:101200 TAS O 2012-04-24 HPO:probinson OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0011800 OMIM:101200 IEA O 2013-11-28 HPO:skoehler OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0012368 OMIM:101200 IEA O 2013-10-22 HPO:skoehler OMIM 101200 #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED HP:0100702 OMIM:101200 IEA O 2012-10-09 HPO:skoehler OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000175 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000189 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000248 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000263 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000270 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000272 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000294 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000316 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000324 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000327 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000348 OMIM:101400 TAS O 2009-02-17 HPO:probinson OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000365 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000369 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000444 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000460 OMIM:101400 TAS O 2012-05-01 HPO:probinson OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000486 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000508 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000557 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000586 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0000614 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0001156 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0001357 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0001627 OMIM:101400 IEA O 2015-12-30 HPO:skoehler OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0001770 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0001822 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0002342 OMIM:101400 IEA O 2013-01-22 HPO:skoehler OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0002644 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0002678 OMIM:101400 TAS O 2015-01-21 HPO:skoehler OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0002697 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0002974 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0003002 OMIM:101400 IEA O 2013-01-22 HPO:skoehler OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0003189 OMIM:101400 TAS O 2012-05-01 HPO:probinson OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0003828 IEA C 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0004209 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0004322 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0004425 OMIM:101400 IEA O 2012-10-09 HPO:skoehler OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0004440 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0004443 IEA O 2012-02-24 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0008551 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0009899 OMIM:101400 TAS O 2009-02-17 HPO:probinson OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0009951 OMIM:101400 TAS O 2012-06-04 HPO:probinson OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0009968 OMIM:101400 TAS O 2012-06-04 HPO:probinson OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0010104 IEA O 2009-02-17 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0011323 IEA O 2012-02-24 HPO:curators OMIM 101400 #101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED HP:0012368 OMIM:101400 IEA O 2013-10-22 HPO:skoehler OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000006 OMIM:101600 IEA I 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000218 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000238 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000244 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000303 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000316 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000327 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000452 OMIM:101600 TAS O 2012-04-24 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000453 OMIM:101600 TAS O 2012-04-24 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000486 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000494 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000586 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0000678 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0001159 OMIM:101600 TAS O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0001249 OMIM:101600 IEA O 2010-06-20 HPO:skoehler OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0002308 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0002676 OMIM:101600 IEA HP:0040283 O 2012-04-24 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0002780 OMIM:101600 IEA O 2010-06-20 HPO:skoehler OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0003041 OMIM:101600 TAS O 2012-04-24 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0003070 OMIM:101600 IEA O 2012-10-09 HPO:skoehler OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0003196 OMIM:101600 TAS O 2012-04-24 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0003795 OMIM:101600 TAS O 2012-06-09 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0004440 OMIM:101600 TAS O 2012-04-24 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0005280 OMIM:101600 TAS O 2012-04-24 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0005347 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0006101 OMIM:101600 IEA O 2014-06-24 HPO:skoehler OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0006110 OMIM:101600 TAS O 2012-06-09 HPO:probinson OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0010055 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101600 #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED HP:0011304 OMIM:101600 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000006 OMIM:101800 TAS I 2009-02-17 HPO:probinson OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000028 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000135 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000238 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000248 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000286 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000303 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000316 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000327 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000365 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000455 OMIM:101800 IEA O 2012-10-17 HPO:skoehler OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000463 OMIM:101800 TAS O 2012-05-01 HPO:probinson OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000486 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000635 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000648 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000668 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000684 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000689 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000858 OMIM:101800 TAS O 2009-02-17 HPO:probinson OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0000995 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0001169 OMIM:101800 TAS O 2009-02-17 HPO:probinson OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0001249 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0001530 OMIM:101800 IEA O 2010-06-20 HPO:skoehler OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0001847 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0002650 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0003083 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0003165 OMIM:101800 IEA O 2012-10-09 HPO:skoehler OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0003416 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0004279 OMIM:101800 TAS O 2012-07-29 HPO:probinson OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0004490 OMIM:101800 TAS O 2009-02-17 HPO:probinson OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0005280 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0005280 OMIM:101800 TAS O 2012-05-01 HPO:probinson OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0005616 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0005756 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0008450 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0008479 OMIM:101800 IEA O 2012-10-09 HPO:skoehler OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0008873 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0009803 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0010049 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0010230 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101800 #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR HP:0010743 OMIM:101800 IEA O 2009-02-17 HPO:curators OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0000006 OMIM:101805 IEA I 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0000028 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0000047 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0000252 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0000349 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0000670 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0000954 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0001511 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0004279 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE HP:0004467 OMIM:101805 IEA O 2017-07-13 HPO:skoehler OMIM 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0000006 OMIM:101840 TAS I 2009-02-17 HPO:probinson OMIM 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0002213 OMIM:101840 TAS O 2015-01-31 HPO:probinson OMIM 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0012393 OMIM:101840 TAS O 2015-01-31 HPO:probinson OMIM 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0200034 OMIM:101840 TAS O 2015-01-31 HPO:probinson OMIM 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT HP:0200035 OMIM:101840 TAS O 2015-01-31 HPO:probinson OMIM 101850 ACROKERATOELASTOIDOSIS HP:0000006 OMIM:101850 IEA I 2009-02-17 HPO:curators OMIM 101850 ACROKERATOELASTOIDOSIS HP:0000962 OMIM:101850 IEA O 2009-02-17 HPO:curators OMIM 101850 ACROKERATOELASTOIDOSIS HP:0200016 OMIM:101850 IEA O 2009-02-17 HPO:curators OMIM 101900 ACROKERATOSIS VERRUCIFORMIS HP:0000006 OMIM:101900 IEA I 2009-02-17 HPO:curators OMIM 101900 ACROKERATOSIS VERRUCIFORMIS HP:0000962 OMIM:101900 IEA O 2009-02-17 HPO:curators OMIM 101900 ACROKERATOSIS VERRUCIFORMIS HP:0001807 OMIM:101900 IEA O 2009-02-17 HPO:curators OMIM 101900 ACROKERATOSIS VERRUCIFORMIS HP:0025092 OMIM:101900 IEA O 2017-07-13 HPO:skoehler OMIM 101900 ACROKERATOSIS VERRUCIFORMIS HP:0200016 OMIM:101900 IEA O 2015-01-27 HPO:skoehler OMIM 102000 ACROLEUKOPATHY, SYMMETRIC HP:0000006 OMIM:102000 IEA I 2009-02-17 HPO:curators OMIM 102000 ACROLEUKOPATHY, SYMMETRIC HP:0200015 OMIM:102000 IEA O 2009-02-17 HPO:curators OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000098 OMIM:102100 PCS O 2012-03-17 HPO:probinson OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000303 OMIM:102100 PCS O 2012-03-17 HPO:probinson OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000478 IEA O 2009-02-17 HPO:curators OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0000977 IEA O 2009-02-17 HPO:curators OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0001176 OMIM:102100 PCS O 2012-03-17 HPO:probinson OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0001833 OMIM:102100 IEA O 2017-07-13 HPO:skoehler OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0010541 OMIM:102100 PCS O 2012-03-17 HPO:probinson OMIM 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA HP:0030314 OMIM:102100 IEA O 2015-04-05 HPO:skoehler OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0000006 OMIM:102150 IEA I 2009-02-17 HPO:curators OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0000153 OMIM:102150 IEA O 2009-02-17 HPO:curators OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0000414 OMIM:102150 IEA O 2009-02-17 HPO:curators OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0000581 OMIM:102150 IEA O 2009-02-17 HPO:curators OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0001176 OMIM:102150 TAS O 2009-02-17 HPO:probinson OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0001182 OMIM:102150 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0001256 OMIM:102150 TAS HP:0040283 O 2012-07-20 HPO:probinson OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0001328 OMIM:102150 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0001520 OMIM:102150 TAS O 2009-02-17 HPO:probinson OMIM 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME HP:0002553 OMIM:102150 IEA O 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0000006 OMIM:102200 TAS I 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0000280 OMIM:102200 TAS O 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0000822 OMIM:102200 TAS O 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0000845 OMIM:102200 TAS O 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0000858 OMIM:102200 TAS O 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0000870 OMIM:102200 TAS O 2015-01-31 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0001428 OMIM:102200 TAS I 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0001638 OMIM:102200 TAS O 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0001712 OMIM:102200 TAS O 2009-02-17 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0002893 OMIM:102200 IEA O 2010-06-18 HPO:skoehler OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0006767 OMIM:102200 TAS O 2009-02-17 HPO:skoehler OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0011760 OMIM:102200 TAS O 2015-01-31 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0030269 OMIM:102200 TAS O 2015-01-31 HPO:probinson OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0040278 OMIM:102200 IEA O 2017-07-13 HPO:skoehler OMIM 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1 HP:0100829 OMIM:102200 TAS O 2014-06-24 HPO:skoehler OMIM 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 HP:0000006 OMIM:102300 TAS I 2009-02-17 HPO:curators OMIM 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 HP:0001336 OMIM:102300 TAS O 2009-02-17 HPO:curators OMIM 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 HP:0003401 OMIM:102300 TAS O 2009-02-17 HPO:skoehler OMIM 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 HP:0008991 OMIM:102300 TAS O 2009-02-17 HPO:curators OMIM 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 HP:0012452 OMIM:102300 TAS O 2013-11-24 HPO:skoehler OMIM 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 HP:0100785 OMIM:102300 IEA O 2014-06-24 HPO:skoehler OMIM 102350 ACROMIAL DIMPLES HP:0000006 OMIM:102350 IEA I 2009-02-17 HPO:curators OMIM 102350 ACROMIAL DIMPLES HP:0000951 OMIM:102350 IEA O 2009-02-17 HPO:curators OMIM 102370 ACROMICRIC DYSPLASIA HP:0000006 OMIM:102370 TAS I 2009-02-17 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0000160 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0000179 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0000311 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0000343 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0000414 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0000463 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0000527 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0001072 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0001609 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0001773 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0002002 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0002750 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0003026 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0003300 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0003510 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0004279 OMIM:102370 TAS O 2009-02-17 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0005900 OMIM:102370 TAS O 2009-02-17 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0009803 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0010049 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102370 ACROMICRIC DYSPLASIA HP:0010579 OMIM:102370 TAS O 2012-06-03 HPO:probinson OMIM 102400 ACROOSTEOLYSIS HP:0000006 OMIM:102400 TAS I 2015-12-30 HPO:probinson OMIM 102400 ACROOSTEOLYSIS HP:0003621 OMIM:102400 TAS C 2015-12-30 HPO:probinson OMIM 102400 ACROOSTEOLYSIS HP:0009771 OMIM:102400 TAS O 2015-12-30 HPO:probinson OMIM 102400 ACROOSTEOLYSIS HP:0010177 OMIM:102400 TAS O 2015-12-30 HPO:probinson OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000006 OMIM:102500 IEA I 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000023 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000028 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000047 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000107 OMIM:102500 IEA O 2012-10-09 HPO:skoehler OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000218 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000238 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000280 OMIM:102500 IEA O 2013-11-18 HPO:skoehler OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000286 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000293 OMIM:102500 IEA O 2013-11-18 HPO:skoehler OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000343 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000347 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000369 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000405 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000445 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000463 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000470 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000494 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000506 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000527 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000574 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000664 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000689 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000938 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0000939 OMIM:102500 TAS O 2009-02-17 HPO:skoehler OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001007 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001388 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001508 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001537 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001643 OMIM:102500 IEA O 2013-11-18 HPO:skoehler OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001671 OMIM:102500 IEA O 2013-11-18 HPO:skoehler OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001799 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0001842 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0002566 OMIM:102500 IEA HP:0040283 O 2013-11-18 HPO:skoehler OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0002645 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0002688 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0002751 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0002756 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0002857 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0002953 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0003083 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0004322 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0004586 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0005463 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0005758 OMIM:102500 IEA O 2014-06-24 HPO:skoehler OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0006180 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0006480 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0008421 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0008462 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0009748 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102500 #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS HP:0009771 OMIM:102500 IEA O 2009-02-17 HPO:curators OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0000006 OMIM:102510 IEA I 2009-02-17 HPO:curators OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0000765 OMIM:102510 IEA O 2009-02-17 HPO:curators OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0001241 OMIM:102510 IEA O 2012-10-09 HPO:skoehler OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0001770 OMIM:102510 IEA O 2009-02-17 HPO:curators OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0002652 OMIM:102510 IEA O 2009-02-17 HPO:curators OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0003468 OMIM:102510 IEA O 2012-10-09 HPO:skoehler OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0004601 OMIM:102510 TAS O 2009-02-17 HPO:probinson OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0004614 OMIM:102510 TAS O 2012-06-10 HPO:probinson OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0005048 OMIM:102510 IEA O 2009-02-17 HPO:curators OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0006101 OMIM:102510 IEA O 2010-06-20 HPO:skoehler OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0009467 OMIM:102510 TAS O 2012-06-08 HPO:probinson OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0009611 OMIM:102510 IEA O 2009-02-17 HPO:curators OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0009778 OMIM:102510 TAS O 2012-06-08 HPO:probinson OMIM 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF HP:0011304 OMIM:102510 TAS O 2012-06-08 HPO:probinson OMIM 102520 ACRORENAL SYNDROME HP:0001180 OMIM:102520 TAS O 2009-02-17 HPO:skoehler OMIM 102520 ACRORENAL SYNDROME HP:0012210 OMIM:102520 IEA O 2009-02-17 HPO:curators OMIM 102530 SPERMATOGENIC FAILURE 6; SPGF6 HP:0000007 TAS I 2015-12-30 HPO:skoehler OMIM 102530 SPERMATOGENIC FAILURE 6; SPGF6 HP:0000789 OMIM:102530 TAS O 2009-02-17 HPO:probinson OMIM 102530 SPERMATOGENIC FAILURE 6; SPGF6 HP:0012205 OMIM:102530 TAS O 2015-01-27 HPO:skoehler OMIM 102650 ADACTYLIA, UNILATERAL HP:0000006 OMIM:102650 IEA I 2009-02-17 HPO:curators OMIM 102650 ADACTYLIA, UNILATERAL HP:0001597 OMIM:102650 IEA O 2009-02-17 HPO:curators OMIM 102650 ADACTYLIA, UNILATERAL HP:0009776 OMIM:102650 TAS O 2009-02-17 HPO:curators OMIM 102650 ADACTYLIA, UNILATERAL HP:0009778 OMIM:102650 TAS O 2012-05-05 HPO:probinson OMIM 102660 ADAMANTINOMA OF LONG BONES HP:0000006 OMIM:102660 IEA I 2009-02-17 HPO:curators OMIM 102660 ADAMANTINOMA OF LONG BONES HP:0002664 OMIM:102660 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000007 OMIM:102700 TAS I 2009-02-17 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000246 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000907 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0000926 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001442 OMIM:102700 IEA I 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001508 OMIM:102700 TAS O 2009-02-17 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001744 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001880 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001890 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001967 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0001973 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002014 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002090 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002099 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002240 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002644 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002718 OMIM:102700 TAS O 2012-04-26 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002720 OMIM:102700 TAS O 2015-02-15 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002841 OMIM:102700 TAS O 2012-04-26 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0002850 OMIM:102700 TAS O 2015-02-15 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0003212 OMIM:102700 TAS O 2009-02-17 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0004429 OMIM:102700 TAS O 2012-04-26 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0004430 OMIM:102700 TAS O 2012-04-26 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0005359 OMIM:102700 TAS O 2009-02-17 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0005365 OMIM:102700 IEA O 2012-10-09 HPO:skoehler OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0005424 OMIM:102700 IEA O 2009-02-17 HPO:curators OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0008348 OMIM:102700 TAS O 2015-02-15 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0010976 OMIM:102700 TAS O 2009-02-17 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0012191 OMIM:102700 TAS O 2010-06-20 HPO:probinson OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY HP:0030273 OMIM:102700 TAS O 2015-02-15 HPO:probinson OMIM 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0000006 OMIM:102730 TAS I 2009-02-17 HPO:probinson OMIM 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0001878 OMIM:102730 TAS O 2009-02-17 HPO:probinson OMIM 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0002149 OMIM:102730 TAS O 2015-01-31 HPO:probinson OMIM 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0004446 OMIM:102730 TAS O 2009-02-17 HPO:probinson OMIM 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0004823 OMIM:102730 TAS O 2009-02-17 HPO:probinson OMIM 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO HP:0030270 OMIM:102730 TAS O 2015-01-31 HPO:probinson OMIM 102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO HP:0000006 OMIM:102800 TAS I 2009-02-17 HPO:probinson OMIM 102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO HP:0001930 OMIM:102800 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0000006 OMIM:102900 TAS I 2009-02-17 HPO:probinson OMIM 102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0001901 OMIM:102900 TAS O 2009-02-17 HPO:probinson OMIM 102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES HP:0030271 OMIM:102900 TAS O 2015-01-31 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000007 OMIM:103050 PCS I 2012-04-11 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000154 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000219 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000219 OMIM:103050 IEA O 2013-06-04 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000248 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000252 OMIM:103050 PCS HP:0040283 O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000319 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000343 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000369 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000463 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000486 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000639 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000717 IEA O 2009-02-17 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000718 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000742 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000748 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000750 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000752 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0000817 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0001249 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0001250 OMIM:103050 PCS O 2012-04-11 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0001263 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0001272 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0001290 OMIM:103050 IEA O 2017-07-13 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0001336 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0001348 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0001510 OMIM:103050 PCS O 2012-04-11 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0002059 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0002066 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0002179 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0002540 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0003196 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0003202 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0003429 IEA O 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0003593 IEA C 2012-10-09 HPO:skoehler OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0005487 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0006808 OMIM:103050 PCS O 2012-03-12 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0011344 OMIM:103050 PCS O 2012-04-11 HPO:probinson OMIM 103050 ADENYLOSUCCINASE DEFICIENCY HP:0040082 OMIM:103050 IEA HP:0040283 O 2014-11-27 HPO:skoehler OMIM 103100 ADIE PUPIL HP:0000006 OMIM:103100 IEA I 2009-02-17 HPO:curators OMIM 103100 ADIE PUPIL HP:0001265 OMIM:103100 IEA O 2009-02-17 HPO:curators OMIM 103100 ADIE PUPIL HP:0012074 OMIM:103100 TAS O 2015-01-21 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0000006 OMIM:103200 IEA I 2009-02-17 HPO:curators OMIM 103200 ADIPOSIS DOLOROSA HP:0000716 TAS O 2015-12-30 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0000739 OMIM:103200 IEA O 2015-01-04 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0001513 OMIM:103200 IEA O 2009-02-17 HPO:curators OMIM 103200 ADIPOSIS DOLOROSA HP:0002019 OMIM:103200 IEA O 2015-01-04 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0002360 OMIM:103200 IEA O 2015-01-04 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0002829 OMIM:103200 IEA O 2015-01-04 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0003270 OMIM:103200 IEA O 2017-07-13 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0003596 OMIM:103200 IEA C 2009-02-17 HPO:curators OMIM 103200 ADIPOSIS DOLOROSA HP:0003828 TAS C 2015-12-30 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0007596 OMIM:103200 IEA O 2009-02-17 HPO:curators OMIM 103200 ADIPOSIS DOLOROSA HP:0012378 OMIM:103200 IEA O 2015-01-04 HPO:skoehler OMIM 103200 ADIPOSIS DOLOROSA HP:0012532 OMIM:103200 IEA O 2015-01-04 HPO:skoehler OMIM 103230 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL;;ADDISON DISEASE, CONGENITAL HP:0000006 OMIM:103230 IEA I 2009-02-17 HPO:curators OMIM 103230 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL;;ADDISON DISEASE, CONGENITAL HP:0000846 OMIM:103230 IEA O 2009-02-17 HPO:curators OMIM 103230 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL;;ADDISON DISEASE, CONGENITAL HP:0000953 OMIM:103230 IEA O 2009-02-17 HPO:curators OMIM 103230 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL;;ADDISON DISEASE, CONGENITAL HP:0012605 OMIM:103230 IEA O 2014-01-28 HPO:skoehler OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000006 OMIM:103285 IEA I 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000202 OMIM:103285 IEA O 2012-10-11 HPO:skoehler OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000509 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000579 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000668 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000677 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000691 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000958 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000963 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000964 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000968 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0000992 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0001171 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0001480 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0001770 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0001803 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0001839 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0002209 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0002215 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0002286 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0002293 OMIM:103285 TAS O 2009-02-17 HPO:skoehler OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0002293 OMIM:103285 IEA O 2014-06-24 HPO:skoehler OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0002557 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0002561 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0003187 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0004334 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0006357 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0006610 OMIM:103285 IEA O 2009-02-17 HPO:curators OMIM 103285 #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME HP:0007455 OMIM:103285 IEA O 2012-10-11 HPO:skoehler OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0000006 OMIM:103300 IEA I 2009-02-17 HPO:curators OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0000160 OMIM:103300 IEA O 2009-02-17 HPO:curators OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0000171 OMIM:103300 TAS O 2012-10-11 HPO:skoehler OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0000190 OMIM:103300 ICE O 2009-09-17 HPO:skoehler OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0000278 OMIM:103300 IEA O 2009-02-17 HPO:curators OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0000286 OMIM:103300 IEA O 2009-02-17 HPO:curators OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0000347 OMIM:103300 TAS O 2012-10-11 HPO:skoehler OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0001171 OMIM:103300 IEA O 2009-02-17 HPO:curators OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0003745 TAS I 2015-12-30 HPO:skoehler OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0009776 OMIM:103300 TAS O 2009-02-17 HPO:skoehler OMIM 103300 HYPOGLOSSIA-HYPODACTYLIA HP:0012730 OMIM:103300 IEA O 2015-01-27 HPO:skoehler OMIM 103400 AINHUM HP:0000006 OMIM:103400 IEA I 2009-02-17 HPO:curators OMIM 103400 AINHUM HP:0009775 OMIM:103400 IEA O 2009-02-17 HPO:curators OMIM 103400 AINHUM HP:0031009 OMIM:103400 IEA O 2017-07-13 HPO:skoehler OMIM 103420 ALACRIMA, CONGENITAL HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 103420 ALACRIMA, CONGENITAL HP:0000522 OMIM:103420 PCS O 2012-04-01 HPO:probinson OMIM 103420 ALACRIMA, CONGENITAL HP:0000584 IEA O 2009-02-17 HPO:curators OMIM 103420 ALACRIMA, CONGENITAL HP:0000613 IEA O 2009-02-17 HPO:curators OMIM 103420 ALACRIMA, CONGENITAL HP:0007732 IEA O 2009-02-17 HPO:curators OMIM 103420 ALACRIMA, CONGENITAL HP:0007820 IEA O 2009-02-17 HPO:curators OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0000006 OMIM:103470 IEA I 2012-10-11 HPO:skoehler OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0000407 OMIM:103470 IEA O 2015-01-21 HPO:skoehler OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0000486 OMIM:103470 IEA O 2009-02-17 HPO:curators OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0000505 OMIM:103470 IEA O 2009-02-17 HPO:curators OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0000540 OMIM:103470 IEA O 2009-02-17 HPO:curators OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0000613 OMIM:103470 IEA O 2009-02-17 HPO:curators OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0000639 OMIM:103470 IEA O 2009-02-17 HPO:curators OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0001003 OMIM:103470 TAS O 2012-07-25 HPO:probinson OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0001010 OMIM:103470 TAS O 2009-02-17 HPO:skoehler OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0001093 OMIM:103470 IEA O 2009-02-17 HPO:curators OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0001107 OMIM:103470 IEA O 2015-01-21 HPO:skoehler OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0001417 OMIM:103470 IEA I 2012-10-11 HPO:skoehler OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0001756 OMIM:103470 IEA O 2009-02-17 HPO:curators OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0005592 OMIM:103470 TAS O 2012-07-25 HPO:probinson OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0007663 OMIM:103470 IEA O 2015-07-26 HPO:skoehler OMIM 103470 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA HP:0007750 OMIM:103470 IEA O 2009-02-17 HPO:curators OMIM 103500 TIETZ SYNDROME HP:0000006 OMIM:103500 TAS I 2009-02-17 HPO:probinson OMIM 103500 TIETZ SYNDROME HP:0000635 OMIM:103500 TAS O 2009-02-17 HPO:probinson OMIM 103500 TIETZ SYNDROME HP:0002226 OMIM:103500 TAS O 2009-02-17 HPO:probinson OMIM 103500 TIETZ SYNDROME HP:0002227 OMIM:103500 TAS O 2009-02-17 HPO:probinson OMIM 103500 TIETZ SYNDROME HP:0007513 OMIM:103500 TAS O 2009-02-17 HPO:probinson OMIM 103500 TIETZ SYNDROME HP:0007894 OMIM:103500 TAS O 2015-07-19 HPO:probinson OMIM 103500 TIETZ SYNDROME HP:0008527 OMIM:103500 TAS O 2009-02-17 HPO:probinson OMIM 103500 TIETZ SYNDROME HP:0008619 OMIM:103500 TAS O 2012-11-16 HPO:skoehler OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000006 OMIM:103580 IEA I 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000135 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000293 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000311 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000470 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000518 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000639 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000684 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000821 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000852 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0000939 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0001156 OMIM:103580 IEA O 2014-11-26 HPO:skoehler OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0001249 OMIM:103580 IEA O 2012-10-11 HPO:skoehler OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0001250 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0001513 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0001831 OMIM:103580 TAS O 2012-06-10 HPO:probinson OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0002135 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0002684 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0002905 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0003165 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0003456 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0003472 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0003812 OMIM:103580 IEA C 2012-10-17 HPO:skoehler OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0004322 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0005280 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0006297 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0006960 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0009381 OMIM:103580 TAS O 2012-06-10 HPO:probinson OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0010049 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0010743 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103580 #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE HP:0100543 OMIM:103580 IEA O 2009-02-17 HPO:curators OMIM 103780 ALCOHOL DEPENDENCE HP:0030955 OMIM:103780 IEA O 2017-07-13 HPO:skoehler OMIM 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM HP:0000006 OMIM:103900 IEA I 2009-02-17 HPO:curators OMIM 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM HP:0000079 OMIM:103900 IEA O 2009-02-17 HPO:curators OMIM 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM HP:0000822 OMIM:103900 IEA O 2009-02-17 HPO:curators OMIM 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM HP:0000840 OMIM:103900 IEA O 2009-02-17 HPO:curators OMIM 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM HP:0000859 OMIM:103900 IEA O 2009-02-17 HPO:curators OMIM 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM HP:0003351 OMIM:103900 IEA O 2009-02-17 HPO:curators OMIM 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM HP:0003674 OMIM:103900 IEA C 2009-02-17 HPO:curators OMIM 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM HP:0008221 OMIM:103900 IEA O 2012-10-11 HPO:skoehler OMIM 103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS HP:0000006 OMIM:103920 IEA I 2009-02-17 HPO:curators OMIM 103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS HP:0002715 OMIM:103920 IEA O 2009-02-17 HPO:curators OMIM 104000 ALOPECIA AREATA 1 HP:0001426 OMIM:104000 IEA I 2009-02-17 HPO:curators OMIM 104000 ALOPECIA AREATA 1 HP:0001803 OMIM:104000 IEA O 2009-02-17 HPO:curators OMIM 104000 ALOPECIA AREATA 1 HP:0002229 OMIM:104000 IEA O 2010-06-20 HPO:skoehler OMIM 104000 ALOPECIA AREATA 1 HP:0002289 TAS O 2015-12-30 HPO:skoehler OMIM 104000 ALOPECIA AREATA 1 HP:0002960 OMIM:104000 IEA O 2010-06-20 HPO:skoehler OMIM 104000 ALOPECIA AREATA 1 HP:0007418 OMIM:104000 IEA O 2009-02-17 HPO:curators OMIM 104000 ALOPECIA AREATA 1 HP:0030804 OMIM:104000 IEA O 2017-07-13 HPO:skoehler OMIM 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS HP:0000006 OMIM:104100 IEA I 2009-02-17 HPO:curators OMIM 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS HP:0000972 OMIM:104100 IEA O 2009-02-17 HPO:curators OMIM 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS HP:0001000 OMIM:104100 IEA HP:0040284 O 2012-10-11 HPO:skoehler OMIM 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS HP:0001596 OMIM:104100 IEA O 2010-06-20 HPO:skoehler OMIM 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS HP:0002164 OMIM:104100 IEA O 2012-10-11 HPO:skoehler OMIM 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS HP:0003593 OMIM:104100 IEA C 2012-10-11 HPO:skoehler OMIM 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS HP:0008391 OMIM:104100 IEA O 2009-02-17 HPO:curators OMIM 104110 ALOPECIA, FAMILIAL FOCAL HP:0000006 OMIM:104110 TAS I 2009-02-17 HPO:curators OMIM 104110 ALOPECIA, FAMILIAL FOCAL HP:0002232 OMIM:104110 TAS O 2009-02-17 HPO:probinson OMIM 104130 %104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY;;SHOKEIR SYNDROME HP:0000006 OMIM:104130 IEA I 2009-02-17 HPO:curators OMIM 104130 %104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY;;SHOKEIR SYNDROME HP:0000704 OMIM:104130 IEA O 2009-02-17 HPO:curators OMIM 104130 %104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY;;SHOKEIR SYNDROME HP:0001250 OMIM:104130 IEA O 2010-06-20 HPO:skoehler OMIM 104130 %104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY;;SHOKEIR SYNDROME HP:0001256 OMIM:104130 IEA O 2009-02-17 HPO:curators OMIM 104130 %104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY;;SHOKEIR SYNDROME HP:0002289 OMIM:104130 IEA HP:0003577 O 2013-06-06 HPO:skoehler OMIM 104130 %104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY;;SHOKEIR SYNDROME HP:0005597 OMIM:104130 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000006 OMIM:104200 IEA I 2012-10-11 HPO:skoehler OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000093 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000099 OMIM:104200 IEA O 2012-10-11 HPO:skoehler OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000100 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000121 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000407 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000545 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000790 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0000822 OMIM:104200 IEA O 2012-10-11 HPO:skoehler OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0001134 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0001142 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0002148 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0002157 OMIM:104200 IEA O 2009-02-17 HPO:curators OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0003676 OMIM:104200 IEA C 2012-10-11 HPO:skoehler OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0003774 OMIM:104200 IEA O 2012-11-26 HPO:skoehler OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0004722 OMIM:104200 IEA O 2012-10-11 HPO:skoehler OMIM 104200 #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT HP:0030034 OMIM:104200 IEA O 2014-09-21 HPO:skoehler OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0000006 OMIM:104290 IEA I 2009-02-17 HPO:curators OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0000639 OMIM:104290 IEA O 2009-02-17 HPO:curators OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0001249 OMIM:104290 IEA O 2009-02-17 HPO:curators OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0001266 OMIM:104290 IEA O 2009-02-17 HPO:curators OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0001268 OMIM:104290 IEA O 2009-02-17 HPO:curators OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0001332 OMIM:104290 IEA O 2009-02-17 HPO:curators OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0002069 OMIM:104290 TAS HP:0040282 O 2009-02-17 HPO:skoehler OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0012194 OMIM:104290 TAS O 2013-03-14 HPO:probinson OMIM 104290 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 HP:0200072 OMIM:104290 IEA O 2013-05-31 HPO:skoehler OMIM 104300 ALZHEIMER DISEASE HP:0000006 OMIM:104300 TAS I 2009-02-17 HPO:probinson OMIM 104300 ALZHEIMER DISEASE HP:0000726 OMIM:104300 TAS O 2010-06-20 HPO:skoehler OMIM 104300 ALZHEIMER DISEASE HP:0001300 OMIM:104300 TAS O 2009-02-17 HPO:probinson OMIM 104300 ALZHEIMER DISEASE HP:0001425 OMIM:104300 IEA I 2012-10-11 HPO:skoehler OMIM 104300 ALZHEIMER DISEASE HP:0002185 OMIM:104300 TAS O 2009-02-17 HPO:probinson OMIM 104300 ALZHEIMER DISEASE HP:0002423 OMIM:104300 TAS O 2009-02-17 HPO:probinson OMIM 104300 ALZHEIMER DISEASE HP:0002511 OMIM:104300 TAS O 2009-02-17 HPO:probinson OMIM 104310 ALZHEIMER DISEASE 2 HP:0000726 OMIM:104310 IEA O 2010-06-20 HPO:skoehler OMIM 104310 ALZHEIMER DISEASE 2 HP:0001300 OMIM:104310 IEA O 2009-02-17 HPO:curators OMIM 104310 ALZHEIMER DISEASE 2 HP:0002185 OMIM:104310 TAS O 2009-02-17 HPO:probinson OMIM 104310 ALZHEIMER DISEASE 2 HP:0002185 OMIM:104310 IEA O 2009-02-17 HPO:curators OMIM 104310 ALZHEIMER DISEASE 2 HP:0002423 OMIM:104310 IEA O 2009-02-17 HPO:curators OMIM 104310 ALZHEIMER DISEASE 2 HP:0002511 OMIM:104310 TAS O 2009-02-17 HPO:probinson OMIM 104310 ALZHEIMER DISEASE 2 HP:0003584 OMIM:104310 IEA C 2009-02-17 HPO:curators OMIM 104311 PRESENILIN 1 HP:0000006 OMIM:104311 IEA I 2009-02-17 HPO:curators OMIM 104311 PRESENILIN 1 HP:0000726 OMIM:104311 IEA O 2010-06-20 HPO:skoehler OMIM 104311 PRESENILIN 1 HP:0001300 OMIM:104311 IEA O 2009-02-17 HPO:curators OMIM 104311 PRESENILIN 1 HP:0002185 OMIM:104311 IEA O 2009-02-17 HPO:curators OMIM 104311 PRESENILIN 1 HP:0002423 OMIM:104311 IEA O 2009-02-17 HPO:curators OMIM 104311 PRESENILIN 1 HP:0003593 OMIM:104311 IEA C 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000006 OMIM:104350 IEA I 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000126 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000218 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000238 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000286 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000316 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000369 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000431 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000494 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000508 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0000767 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0001159 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0001374 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0001537 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0001634 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0001643 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0002561 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0002650 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0002937 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0002967 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0005280 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM HP:0008705 OMIM:104350 IEA O 2009-02-17 HPO:curators OMIM 104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA HP:0009827 OMIM:104400 IEA O 2009-02-17 HPO:curators OMIM 104500 AMELOGENESIS IMPERFECTA, TYPE IB HP:0000006 OMIM:104500 IEA I 2009-02-17 HPO:curators OMIM 104500 AMELOGENESIS IMPERFECTA, TYPE IB HP:0000705 OMIM:104500 IEA O 2009-02-17 HPO:curators OMIM 104510 AMELOGENESIS IMPERFECTA, TYPE IV HP:0000006 OMIM:104510 IEA I 2009-02-17 HPO:curators OMIM 104510 AMELOGENESIS IMPERFECTA, TYPE IV HP:0000679 OMIM:104510 IEA O 2009-02-17 HPO:curators OMIM 104510 AMELOGENESIS IMPERFECTA, TYPE IV HP:0000705 OMIM:104510 IEA O 2009-02-17 HPO:curators OMIM 104530 #104530 AMELOGENESIS IMPERFECTA, TYPE IA; AI1AAMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA HP:0000006 OMIM:104530 IEA I 2009-02-17 HPO:curators OMIM 104530 #104530 AMELOGENESIS IMPERFECTA, TYPE IA; AI1AAMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA HP:0000679 OMIM:104530 IEA HP:0040283 O 2015-02-22 HPO:skoehler OMIM 104530 #104530 AMELOGENESIS IMPERFECTA, TYPE IA; AI1AAMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA HP:0000705 OMIM:104530 IEA O 2009-02-17 HPO:curators OMIM 104530 #104530 AMELOGENESIS IMPERFECTA, TYPE IA; AI1AAMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA HP:0006311 OMIM:104530 IEA O 2009-02-17 HPO:curators OMIM 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME HP:0000006 OMIM:104570 IEA I 2009-02-17 HPO:curators OMIM 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME HP:0000682 OMIM:104570 IEA O 2009-02-17 HPO:curators OMIM 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME HP:0000958 OMIM:104570 IEA O 2009-02-17 HPO:curators OMIM 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME HP:0000966 OMIM:104570 IEA O 2009-02-17 HPO:curators OMIM 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME HP:0001051 OMIM:104570 IEA O 2009-02-17 HPO:curators OMIM 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME HP:0001595 OMIM:104570 IEA O 2009-02-17 HPO:curators OMIM 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME HP:0001806 OMIM:104570 IEA O 2009-02-17 HPO:curators OMIM 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME HP:0006291 OMIM:104570 IEA O 2009-02-17 HPO:curators OMIM 104600 104600 AMENORRHEA-GALACTORRHEA SYNDROME HP:0000006 OMIM:104600 IEA I 2009-02-17 HPO:curators OMIM 104600 104600 AMENORRHEA-GALACTORRHEA SYNDROME HP:0000765 OMIM:104600 IEA O 2009-02-17 HPO:curators OMIM 104600 104600 AMENORRHEA-GALACTORRHEA SYNDROME HP:0000869 OMIM:104600 IEA O 2009-02-17 HPO:curators OMIM 104600 104600 AMENORRHEA-GALACTORRHEA SYNDROME HP:0002690 OMIM:104600 IEA O 2009-02-17 HPO:curators OMIM 104600 104600 AMENORRHEA-GALACTORRHEA SYNDROME HP:0002893 OMIM:104600 IEA O 2009-02-17 HPO:curators OMIM 104600 104600 AMENORRHEA-GALACTORRHEA SYNDROME HP:0100829 OMIM:104600 IEA O 2014-03-24 HPO:skoehler OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0000006 OMIM:105120 IEA I 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0000083 OMIM:105120 IEA O 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0000100 OMIM:105120 IEA O 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0000973 OMIM:105120 IEA O 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0001149 OMIM:105120 IEA O 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0001271 OMIM:105120 IEA O 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0001283 OMIM:105120 IEA O 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0001438 OMIM:105120 IEA O 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0001638 OMIM:105120 IEA O 2010-06-20 HPO:skoehler OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0003216 OMIM:105120 IEA O 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0003581 OMIM:105120 IEA C 2009-02-17 HPO:curators OMIM 105120 AMYLOIDOSIS, FINNISH TYPE HP:0030843 OMIM:105120 IEA O 2017-07-13 HPO:skoehler OMIM 105150 AMYLOIDOSIS VI HP:0000006 OMIM:105150 IEA I 2009-02-17 HPO:curators OMIM 105150 AMYLOIDOSIS VI HP:0000726 OMIM:105150 IEA O 2009-02-17 HPO:curators OMIM 105150 AMYLOIDOSIS VI HP:0001297 OMIM:105150 IEA O 2010-06-20 HPO:skoehler OMIM 105150 AMYLOIDOSIS VI HP:0001342 OMIM:105150 TAS O 2015-01-21 HPO:skoehler OMIM 105150 AMYLOIDOSIS VI HP:0002170 OMIM:105150 IEA O 2009-02-17 HPO:curators OMIM 105150 AMYLOIDOSIS VI HP:0003216 OMIM:105150 IEA O 2009-02-17 HPO:curators OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0000006 OMIM:105200 TAS I 2009-02-17 HPO:probinson OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0000093 PMID:8113408 PCS O 2009-02-17 HPO:probinson OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0000100 OMIM:105200 TAS O 2009-02-17 HPO:probinson OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0000112 OMIM:105200 TAS O 2009-02-17 HPO:skoehler OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0000790 OMIM:105200 TAS O 2009-02-17 HPO:probinson OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0000822 PMID:8113408 PCS O 2009-02-17 HPO:probinson OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0000969 PMID:8113408 PCS O 2010-06-20 HPO:skoehler OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0000988 OMIM:105200 TAS O 2010-06-20 HPO:skoehler OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0001396 OMIM:105200 TAS O 2009-02-17 HPO:probinson OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0001744 OMIM:105200 TAS O 2009-02-17 HPO:probinson OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0002240 OMIM:105200 TAS O 2009-02-17 HPO:probinson OMIM 105200 AMYLOIDOSIS, FAMILIAL VISCERAL HP:0003216 PMID:22693999 PCS O 2009-02-17 HPO:probinson OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0000006 OMIM:105210 IEA I 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0000020 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0000365 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0000505 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0000639 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0000726 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0000802 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001250 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001251 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001257 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001260 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001265 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001269 OMIM:105210 IEA O 2010-06-20 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001271 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001324 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001337 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001638 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0001640 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0002014 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0002019 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0002315 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0002401 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0002459 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0002922 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0003477 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0003581 OMIM:105210 IEA C 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0003676 OMIM:105210 IEA C 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0003812 OMIM:105210 IEA C 2012-10-17 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0004926 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0007841 OMIM:105210 IEA O 2009-02-17 HPO:curators OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0010550 OMIM:105210 IEA O 2012-10-12 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0011034 OMIM:105210 IEA O 2015-01-27 HPO:skoehler OMIM 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HP:0012185 OMIM:105210 IEA O 2017-07-13 HPO:skoehler OMIM 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000006 OMIM:105250 TAS I 2009-02-17 HPO:probinson OMIM 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000973 OMIM:105250 TAS O 2009-02-17 HPO:probinson OMIM 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0000989 OMIM:105250 TAS O 2009-02-17 HPO:probinson OMIM 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0001149 OMIM:105250 TAS O 2009-02-17 HPO:probinson OMIM 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0001291 OMIM:105250 TAS O 2015-01-31 HPO:probinson OMIM 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0003581 OMIM:105250 TAS C 2009-02-17 HPO:probinson OMIM 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS HP:0011034 OMIM:105250 TAS O 2015-01-27 HPO:skoehler OMIM 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA HP:0000006 OMIM:105300 IEA I 2009-02-17 HPO:curators OMIM 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA HP:0000020 OMIM:105300 TAS O 2009-02-17 HPO:skoehler OMIM 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA HP:0000639 OMIM:105300 IEA O 2009-02-17 HPO:curators OMIM 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA HP:0001249 OMIM:105300 IEA O 2009-02-17 HPO:curators OMIM 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA HP:0001258 OMIM:105300 IEA O 2009-02-17 HPO:curators OMIM 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA HP:0001332 OMIM:105300 IEA O 2009-02-17 HPO:curators OMIM 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA HP:0002607 OMIM:105300 IEA O 2009-02-17 HPO:curators OMIM 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA HP:0003202 OMIM:105300 IEA O 2009-02-17 HPO:curators OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0000006 OMIM:105400 TAS I 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0000007 OMIM:105400 IEA I 2012-10-12 HPO:skoehler OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0001257 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0001324 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0001347 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0001425 OMIM:105400 IEA I 2012-10-12 HPO:skoehler OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0002314 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0002380 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0002398 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0003202 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0003394 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0007024 OMIM:105400 TAS O 2012-04-11 HPO:probinson OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0007354 OMIM:105400 IEA O 2015-01-19 HPO:skoehler OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1 HP:0010535 OMIM:105400 IEA O 2012-10-12 HPO:skoehler OMIM 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 HP:0000006 TAS I 2015-12-30 HPO:skoehler OMIM 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 HP:0000726 OMIM:105500 TAS O 2009-02-17 HPO:probinson OMIM 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 HP:0001283 OMIM:105500 TAS O 2009-02-17 HPO:probinson OMIM 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 HP:0001300 OMIM:105500 TAS O 2009-02-17 HPO:probinson OMIM 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 HP:0001324 OMIM:105500 IEA O 2010-06-18 HPO:skoehler OMIM 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 HP:0002366 OMIM:105500 TAS O 2009-02-17 HPO:probinson OMIM 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 HP:0003394 OMIM:105500 IEA O 2009-02-17 HPO:probinson OMIM 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 HP:0007354 OMIM:105500 IEA O 2009-02-17 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0000006 OMIM:105550 IEA I 2009-02-17 HPO:curators OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0000605 OMIM:105550 TAS HP:0040283 O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0000716 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0000738 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0000741 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0000746 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0001260 OMIM:105550 IEA O 2012-10-12 HPO:skoehler OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0001300 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0001324 OMIM:105550 IEA O 2012-10-12 HPO:skoehler OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002059 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002145 OMIM:105550 IEA O 2012-10-12 HPO:skoehler OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002171 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002186 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002273 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002366 OMIM:105550 IEA O 2009-02-17 HPO:curators OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002385 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002442 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0002529 OMIM:105550 IEA O 2012-10-12 HPO:skoehler OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0003202 OMIM:105550 IEA O 2012-10-12 HPO:skoehler OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0003581 OMIM:105550 TAS C 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0003678 OMIM:105550 TAS C 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0007308 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 HP:0007354 OMIM:105550 TAS O 2012-08-05 HPO:probinson OMIM 105563 105563 ANAL SPHINCTER DYSPLASIA; ASDP HP:0000006 OMIM:105563 IEA I 2009-02-17 HPO:curators OMIM 105563 105563 ANAL SPHINCTER DYSPLASIA; ASDP HP:0012450 OMIM:105563 IEA O 2013-11-28 HPO:skoehler OMIM 105563 105563 ANAL SPHINCTER DYSPLASIA; ASDP HP:0040183 OMIM:105563 IEA O 2015-10-05 HPO:skoehler OMIM 105565 ANAL SPHINCTER MYOPATHY, INTERNAL HP:0000006 OMIM:105565 TAS I 2009-02-17 HPO:probinson OMIM 105565 ANAL SPHINCTER MYOPATHY, INTERNAL HP:0002019 OMIM:105565 TAS O 2009-02-17 HPO:probinson OMIM 105565 ANAL SPHINCTER MYOPATHY, INTERNAL HP:0004378 OMIM:105565 TAS O 2014-01-01 HPO:probinson OMIM 105570 ANDROSTENONE, ABILITY TO SMELL HP:0000006 OMIM:105570 IEA I 2009-02-17 HPO:curators OMIM 105570 ANDROSTENONE, ABILITY TO SMELL HP:0000707 OMIM:105570 IEA O 2009-02-17 HPO:curators OMIM 105580 ANAL CANAL CARCINOMACLOACOGENIC CARCINOMA, INCLUDED HP:0000006 OMIM:105580 IEA I 2009-02-17 HPO:curators OMIM 105580 ANAL CANAL CARCINOMACLOACOGENIC CARCINOMA, INCLUDED HP:0006763 OMIM:105580 IEA O 2009-02-17 HPO:curators OMIM 105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III HP:0000006 OMIM:105600 IEA I 2009-02-17 HPO:curators OMIM 105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III HP:0000952 OMIM:105600 IEA O 2009-02-17 HPO:curators OMIM 105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III HP:0001972 OMIM:105600 TAS O 2012-08-05 HPO:probinson OMIM 105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III HP:0004810 OMIM:105600 IEA O 2009-02-17 HPO:curators OMIM 105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III HP:0012543 OMIM:105600 TAS O 2014-01-01 HPO:probinson OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000006 OMIM:105650 IEA I 2009-02-17 HPO:curators OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000175 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000204 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000218 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000252 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000270 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000278 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000316 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000347 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000457 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000465 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000470 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000486 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000494 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000774 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000878 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000946 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0000980 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001199 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001249 OMIM:105650 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001508 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001511 OMIM:105650 TAS O 2010-06-20 HPO:probinson OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001622 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001629 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001631 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001635 OMIM:105650 IEA O 2009-02-17 HPO:curators OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001680 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001873 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001875 OMIM:105650 IEA O 2010-06-20 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001894 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0001896 OMIM:105650 TAS O 2009-02-17 HPO:probinson OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0002669 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0002697 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0002863 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0002984 OMIM:105650 TAS O 2012-05-05 HPO:probinson OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0003003 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0003593 OMIM:105650 IEA C 2010-06-19 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0004322 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0004810 OMIM:105650 TAS O 2009-02-17 HPO:probinson OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0008437 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0008447 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0008475 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0009777 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0009778 OMIM:105650 IEA O 2010-06-18 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0009944 OMIM:105650 IEA O 2010-06-20 HPO:skoehler OMIM 105650 DIAMOND-BLACKFAN ANEMIA HP:0030270 OMIM:105650 TAS O 2015-01-31 HPO:probinson OMIM 105800 ANEURYSM, INTRACRANIAL BERRY, 1 HP:0000006 OMIM:105800 IEA I 2009-02-17 HPO:curators OMIM 105800 ANEURYSM, INTRACRANIAL BERRY, 1 HP:0002170 OMIM:105800 IEA O 2009-02-17 HPO:curators OMIM 105800 ANEURYSM, INTRACRANIAL BERRY, 1 HP:0004944 OMIM:105800 IEA O 2009-02-17 HPO:curators OMIM 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM HP:0000006 OMIM:105805 IEA I 2009-02-17 HPO:curators OMIM 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM HP:0002617 OMIM:105805 IEA O 2010-06-20 HPO:skoehler OMIM 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM HP:0010438 OMIM:105805 IEA O 2010-06-20 HPO:skoehler OMIM 105830 ANGELMAN SYNDROME HP:0000006 OMIM:105830 PCS I 2009-12-03 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000154 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000158 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000248 OMIM:105830 TAS O 2012-05-01 HPO:probinson OMIM 105830 ANGELMAN SYNDROME HP:0000303 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000327 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000486 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000490 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000545 OMIM:105830 IEA O 2012-10-12 HPO:skoehler OMIM 105830 ANGELMAN SYNDROME HP:0000577 OMIM:105830 IEA O 2012-10-12 HPO:skoehler OMIM 105830 ANGELMAN SYNDROME HP:0000635 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000639 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000687 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000749 OMIM:105830 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0000752 OMIM:105830 PCS O 2009-12-03 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0001010 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0001250 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0001252 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0001263 OMIM:105830 IEA O 2014-04-04 HPO:skoehler OMIM 105830 ANGELMAN SYNDROME HP:0001270 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0001290 OMIM:105830 IEA O 2017-07-13 HPO:skoehler OMIM 105830 ANGELMAN SYNDROME HP:0001344 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0001347 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0001513 OMIM:105830 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0002019 OMIM:105830 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0002120 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0002136 ICE HP:0040281 O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0002286 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0002307 OMIM:105830 IEA O 2012-10-12 HPO:skoehler OMIM 105830 ANGELMAN SYNDROME HP:0002312 ICE HP:0040281 O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0002353 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0002650 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0003745 ICE HP:0040282 I 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0005469 OMIM:105830 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0005484 OMIM:105830 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0005484 OMIM:105830 TAS O 2012-05-01 HPO:probinson OMIM 105830 ANGELMAN SYNDROME HP:0006887 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0006979 OMIM:105830 PCS O 2009-12-03 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0007240 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0008872 OMIM:105830 PCS O 2009-02-17 HPO:curators OMIM 105830 ANGELMAN SYNDROME HP:0010808 OMIM:105830 IEA O 2012-10-12 HPO:skoehler OMIM 105830 ANGELMAN SYNDROME HP:0010864 OMIM:105830 IEA O 2012-10-12 HPO:skoehler OMIM 105830 ANGELMAN SYNDROME HP:0200085 OMIM:105830 IEA O 2013-06-04 HPO:skoehler OMIM 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0001187 OMIM:105835 TAS O 2012-07-29 HPO:probinson OMIM 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0001216 OMIM:105835 TAS O 2012-07-29 HPO:probinson OMIM 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0003088 OMIM:105835 TAS O 2012-07-29 HPO:probinson OMIM 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0004322 OMIM:105835 TAS O 2012-07-29 HPO:probinson OMIM 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0008843 OMIM:105835 TAS O 2012-07-29 HPO:probinson OMIM 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA HP:0009193 OMIM:105835 TAS O 2012-07-29 HPO:probinson OMIM 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT HP:0000006 OMIM:106050 IEA I 2009-02-17 HPO:curators OMIM 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT HP:0000962 OMIM:106050 IEA O 2009-02-17 HPO:curators OMIM 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT HP:0003621 OMIM:106050 IEA C 2009-02-17 HPO:curators OMIM 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT HP:0003677 OMIM:106050 IEA C 2009-02-17 HPO:curators OMIM 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT HP:0003745 OMIM:106050 IEA I 2009-02-17 HPO:curators OMIM 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED HP:0000006 OMIM:106070 IEA I 2009-02-17 HPO:curators OMIM 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED HP:0000790 OMIM:106070 IEA O 2010-06-20 HPO:skoehler OMIM 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED HP:0001028 OMIM:106070 IEA O 2010-06-20 HPO:skoehler OMIM 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED HP:0001269 OMIM:106070 IEA O 2009-02-17 HPO:curators OMIM 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED HP:0002239 OMIM:106070 IEA O 2009-02-17 HPO:curators OMIM 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED HP:0002277 OMIM:106070 IEA O 2009-02-17 HPO:curators OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0000006 OMIM:106100 IEA I 2009-02-17 HPO:curators OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0001600 OMIM:106100 IEA O 2009-02-17 HPO:curators OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0002013 OMIM:106100 IEA O 2009-02-17 HPO:curators OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0002014 OMIM:106100 IEA O 2009-02-17 HPO:curators OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0002027 OMIM:106100 IEA O 2009-02-17 HPO:curators OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0002960 OMIM:106100 IEA O 2010-06-20 HPO:skoehler OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0003477 OMIM:106100 IEA O 2010-06-20 HPO:skoehler OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0005225 OMIM:106100 IEA O 2009-02-17 HPO:curators OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0010783 OMIM:106100 IEA O 2010-06-20 HPO:skoehler OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0011855 OMIM:106100 TAS O 2012-07-21 HPO:probinson OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0012027 OMIM:106100 TAS O 2012-07-26 HPO:probinson OMIM 106100 ANGIOEDEMA, HEREDITARY HP:0100665 OMIM:106100 IEA O 2015-01-19 HPO:skoehler OMIM 106190 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD HP:0000007 TAS I 2015-12-30 HPO:skoehler OMIM 106190 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD HP:0000970 OMIM:106190 IEA O 2015-01-27 HPO:skoehler OMIM 106190 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD HP:0002046 OMIM:106190 TAS O 2012-08-05 HPO:skoehler OMIM 106190 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD HP:0007459 OMIM:106190 TAS O 2009-02-17 HPO:skoehler OMIM 106210 ANIRIDIA 1 HP:0000006 OMIM:106210 IEA I 2009-02-17 HPO:curators OMIM 106210 ANIRIDIA 1 HP:0000501 OMIM:106210 IEA O 2009-02-17 HPO:curators OMIM 106210 ANIRIDIA 1 HP:0000518 OMIM:106210 IEA O 2009-02-17 HPO:curators OMIM 106210 ANIRIDIA 1 HP:0000526 OMIM:106210 IEA O 2009-02-17 HPO:curators OMIM 106210 ANIRIDIA 1 HP:0000609 OMIM:106210 IEA O 2009-02-17 HPO:curators OMIM 106210 ANIRIDIA 1 HP:0000639 OMIM:106210 IEA O 2009-02-17 HPO:curators OMIM 106210 ANIRIDIA 1 HP:0002079 OMIM:106210 IEA O 2017-07-13 HPO:skoehler OMIM 106210 ANIRIDIA 1 HP:0002126 OMIM:106210 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 106210 ANIRIDIA 1 HP:0007750 OMIM:106210 IEA O 2009-02-17 HPO:curators OMIM 106210 ANIRIDIA 1 HP:0007759 OMIM:106210 IEA O 2009-02-17 HPO:curators OMIM 106220 ANIRIDIA AND ABSENT PATELLA HP:0000006 OMIM:106220 IEA I 2009-02-17 HPO:curators OMIM 106220 ANIRIDIA AND ABSENT PATELLA HP:0000501 OMIM:106220 IEA O 2009-02-17 HPO:curators OMIM 106220 ANIRIDIA AND ABSENT PATELLA HP:0000518 OMIM:106220 IEA O 2009-02-17 HPO:curators OMIM 106220 ANIRIDIA AND ABSENT PATELLA HP:0000526 OMIM:106220 IEA O 2009-02-17 HPO:curators OMIM 106220 ANIRIDIA AND ABSENT PATELLA HP:0006498 OMIM:106220 IEA O 2009-02-17 HPO:curators OMIM 106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT HP:0000006 OMIM:106230 TAS I 2009-02-17 HPO:probinson OMIM 106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT HP:0000482 OMIM:106230 TAS O 2009-02-17 HPO:probinson OMIM 106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT HP:0000526 OMIM:106230 TAS O 2009-02-17 HPO:probinson OMIM 106240 ANISOCORIA HP:0000006 OMIM:106240 IEA I 2009-02-17 HPO:curators OMIM 106240 ANISOCORIA HP:0009916 OMIM:106240 IEA O 2015-01-27 HPO:skoehler OMIM 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE HP:0000006 OMIM:106250 TAS I 2009-02-17 HPO:probinson OMIM 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE HP:0000175 OMIM:106250 TAS O 2010-06-18 HPO:skoehler OMIM 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE HP:0000204 OMIM:106250 TAS O 2009-02-17 HPO:skoehler OMIM 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE HP:0009755 OMIM:106250 TAS O 2013-02-24 HPO:probinson OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000006 OMIM:106260 IEA I 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000047 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000054 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000175 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000204 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000300 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000327 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000405 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000413 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000431 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000498 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000509 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000561 OMIM:106260 IEA O 2012-10-12 HPO:skoehler OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000564 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000653 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000668 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000687 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000698 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000707 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000953 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000970 OMIM:106260 IEA O 2010-06-20 HPO:skoehler OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0000982 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0001592 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0001629 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0001643 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0001795 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0001798 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0002231 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0002232 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0002558 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0004691 OMIM:106260 IEA O 2009-02-17 HPO:curators OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0008404 OMIM:106260 IEA O 2013-05-03 HPO:skoehler OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0009755 OMIM:106260 TAS O 2009-02-17 HPO:probinson OMIM 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE HP:0031088 OMIM:106260 IEA O 2017-07-13 HPO:skoehler OMIM 106280 ANKYLOGLOSSIA HP:0000006 OMIM:106280 IEA I 2009-02-17 HPO:curators OMIM 106280 ANKYLOGLOSSIA HP:0010296 OMIM:106280 IEA O 2010-06-18 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001369 OMIM:106300 IEA O 2017-07-13 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001426 OMIM:106300 TAS I 2010-06-19 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0001659 OMIM:106300 TAS O 2009-02-17 HPO:probinson OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002037 OMIM:106300 TAS O 2012-10-12 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0002808 OMIM:106300 TAS O 2010-06-20 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0003418 OMIM:106300 TAS O 2010-06-20 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0003765 OMIM:106300 TAS O 2009-02-17 HPO:probinson OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0008843 OMIM:106300 TAS O 2009-02-17 HPO:curators OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0011675 OMIM:106300 TAS O 2009-02-17 HPO:probinson OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0012122 OMIM:106300 TAS O 2012-10-12 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0012317 OMIM:106300 IEA O 2017-07-13 HPO:skoehler OMIM 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 HP:0100686 OMIM:106300 TAS O 2012-10-12 HPO:skoehler OMIM 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSISDIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED HP:0000006 OMIM:106400 IEA I 2009-02-17 HPO:curators OMIM 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSISDIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED HP:0007508 OMIM:106400 IEA O 2009-02-17 HPO:curators OMIM 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSISDIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED HP:0008442 OMIM:106400 IEA O 2010-06-20 HPO:skoehler OMIM 106500 ANNULAR ERYTHEMA HP:0000006 OMIM:106500 IEA I 2009-02-17 HPO:curators OMIM 106500 ANNULAR ERYTHEMA HP:0010783 OMIM:106500 IEA O 2010-06-20 HPO:skoehler OMIM 106600 TOOTH AGENESIS, SELECTIVE, 1 HP:0000006 OMIM:106600 TAS I 2009-02-17 HPO:probinson OMIM 106600 TOOTH AGENESIS, SELECTIVE, 1 HP:0000668 OMIM:106600 TAS O 2009-02-17 HPO:probinson OMIM 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0000006 OMIM:106700 IEA I 2009-02-17 HPO:curators OMIM 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0002092 OMIM:106700 IEA O 2009-02-17 HPO:curators OMIM 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0002205 OMIM:106700 IEA O 2009-02-17 HPO:curators OMIM 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0005160 OMIM:106700 TAS O 2015-01-21 HPO:skoehler OMIM 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0008386 OMIM:106700 IEA O 2012-10-12 HPO:skoehler OMIM 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 HP:0009884 OMIM:106700 IEA HP:0040283 O 2012-10-12 HPO:skoehler OMIM 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION HP:0000006 OMIM:106750 IEA I 2009-02-17 HPO:curators OMIM 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION HP:0000958 OMIM:106750 TAS O 2009-02-17 HPO:skoehler OMIM 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION HP:0001798 OMIM:106750 IEA O 2009-02-17 HPO:curators OMIM 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION HP:0007471 OMIM:106750 IEA O 2009-02-17 HPO:curators OMIM 106900 ANONYCHIA-ECTRODACTYLY HP:0000006 OMIM:106900 IEA I 2009-02-17 HPO:curators OMIM 106900 ANONYCHIA-ECTRODACTYLY HP:0000968 OMIM:106900 IEA O 2009-02-17 HPO:curators OMIM 106900 ANONYCHIA-ECTRODACTYLY HP:0001171 OMIM:106900 IEA O 2009-02-17 HPO:curators OMIM 106900 ANONYCHIA-ECTRODACTYLY HP:0001798 OMIM:106900 IEA O 2009-02-17 HPO:curators OMIM 106900 ANONYCHIA-ECTRODACTYLY HP:0010048 OMIM:106900 IEA O 2009-02-17 HPO:curators OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0000006 OMIM:106990 IEA I 2009-02-17 HPO:curators OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0000968 OMIM:106990 IEA O 2009-02-17 HPO:curators OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0001171 OMIM:106990 IEA O 2009-02-17 HPO:curators OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0001798 OMIM:106990 IEA O 2009-02-17 HPO:curators OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0002164 OMIM:106990 IEA O 2009-02-17 HPO:curators OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0005831 OMIM:106990 TAS O 2012-07-20 HPO:probinson OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0008404 OMIM:106990 IEA O 2013-05-03 HPO:skoehler OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0009835 OMIM:106990 IEA O 2009-02-17 HPO:curators OMIM 106990 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY HP:0010743 OMIM:106990 IEA O 2009-02-17 HPO:curators OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0000006 OMIM:106995 IEA I 2009-02-17 HPO:curators OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0000218 OMIM:106995 IEA O 2012-11-16 HPO:skoehler OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0000322 OMIM:106995 IEA O 2012-11-16 HPO:skoehler OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0000426 OMIM:106995 IEA O 2012-11-16 HPO:skoehler OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0000430 OMIM:106995 IEA O 2012-11-16 HPO:skoehler OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0000448 OMIM:106995 IEA O 2012-11-16 HPO:skoehler OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0000494 OMIM:106995 IEA O 2012-11-20 HPO:skoehler OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0001798 OMIM:106995 IEA O 2009-02-17 HPO:curators OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0002164 OMIM:106995 IEA O 2009-02-17 HPO:curators OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0005793 OMIM:106995 IEA O 2009-02-17 HPO:curators OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0006118 OMIM:106995 TAS O 2012-06-11 HPO:probinson OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0008404 OMIM:106995 IEA O 2013-05-03 HPO:skoehler OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0009237 OMIM:106995 IEA O 2009-02-17 HPO:curators OMIM 106995 %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME HP:0009943 OMIM:106995 IEA O 2009-02-17 HPO:curators OMIM 107000 %107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL HP:0000006 OMIM:107000 IEA I 2009-02-17 HPO:curators OMIM 107000 %107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL HP:0001374 OMIM:107000 IEA O 2009-02-17 HPO:curators OMIM 107000 %107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL HP:0001798 OMIM:107000 IEA O 2009-02-17 HPO:curators OMIM 107000 %107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL HP:0002164 OMIM:107000 IEA O 2009-02-17 HPO:curators OMIM 107000 %107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL HP:0008404 OMIM:107000 IEA O 2013-05-03 HPO:skoehler OMIM 107000 %107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL HP:0009884 OMIM:107000 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 107100 ANORECTAL ANOMALIES HP:0000006 OMIM:107100 IEA I 2009-02-17 HPO:curators OMIM 107100 ANORECTAL ANOMALIES HP:0000143 OMIM:107100 IEA O 2009-02-17 HPO:curators OMIM 107100 ANORECTAL ANOMALIES HP:0002023 OMIM:107100 IEA O 2009-02-17 HPO:curators OMIM 107200 ANOSMIA, CONGENITAL HP:0000006 OMIM:107200 IEA I 2009-02-17 HPO:curators OMIM 107200 ANOSMIA, CONGENITAL HP:0000458 OMIM:107200 TAS HP:0003577 O 2009-02-17 HPO:skoehler OMIM 107250 ANTERIOR SEGMENT DYSGENESIS 1 HP:0000006 OMIM:107250 TAS I 2009-02-17 HPO:curators OMIM 107250 ANTERIOR SEGMENT DYSGENESIS 1 HP:0000482 OMIM:107250 IEA O 2017-07-13 HPO:skoehler OMIM 107250 ANTERIOR SEGMENT DYSGENESIS 1 HP:0000659 OMIM:107250 IEA O 2017-07-13 HPO:skoehler OMIM 107250 ANTERIOR SEGMENT DYSGENESIS 1 HP:0001115 pmid:15286169,pmid:16636655,pmid:18989383 PCS HP:0040284 O 2010-12-12 HPO:curators OMIM 107250 ANTERIOR SEGMENT DYSGENESIS 1 HP:0007700 pmid:15286169,pmid:18989383 PCS HP:0040284 O 2010-12-12 HPO:curators OMIM 107250 ANTERIOR SEGMENT DYSGENESIS 1 HP:0007759 OMIM:107250 TAS O 2009-02-17 HPO:curators OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0000006 OMIM:107320 IEA I 2009-02-17 HPO:curators OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0000541 OMIM:107320 IEA O 2017-07-13 HPO:skoehler OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0000572 OMIM:107320 IEA O 2017-07-13 HPO:skoehler OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0000622 OMIM:107320 IEA O 2017-07-13 HPO:skoehler OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0001101 OMIM:107320 IEA O 2017-07-13 HPO:skoehler OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0001973 OMIM:107320 IEA O 2009-02-17 HPO:curators OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0004420 OMIM:107320 IEA O 2009-02-17 HPO:curators OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0004936 OMIM:107320 IEA O 2009-02-17 HPO:curators OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0011531 OMIM:107320 IEA O 2017-07-13 HPO:skoehler OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0025188 OMIM:107320 IEA O 2017-07-13 HPO:skoehler OMIM 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL HP:0025342 OMIM:107320 IEA O 2017-07-13 HPO:skoehler OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000003 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000006 OMIM:107480 IEA I 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000028 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000047 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000048 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000076 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000083 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000089 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000110 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000136 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000143 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000252 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000384 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000400 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000407 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000567 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0000821 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0001177 OMIM:107480 IEA O 2012-10-12 HPO:skoehler OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0001199 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0001249 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0001440 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0001537 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0001629 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0001636 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0001864 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0002020 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0002023 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0002025 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0002247 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0004453 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0004467 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0004691 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0004792 OMIM:107480 IEA O 2010-06-20 HPO:skoehler OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0006097 OMIM:107480 IEA O 2010-06-20 HPO:skoehler OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0006179 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0008551 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0009779 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0009921 OMIM:107480 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0009944 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0010331 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0010481 OMIM:107480 IEA O 2010-06-20 HPO:skoehler OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0010709 OMIM:107480 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0010743 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0011304 OMIM:107480 IEA O 2009-02-17 HPO:curators OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0030676 OMIM:107480 IEA O 2015-12-30 HPO:skoehler OMIM 107480 #107480 TOWNES-BROCKS SYNDROME; TBS;;RENAL-EAR-ANAL-RADIAL SYNDROME;;REAR SYNDROME;;ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;;DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESTOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED HP:0100015 OMIM:107480 IEA O 2010-06-18 HPO:skoehler OMIM 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION HP:0000006 OMIM:107500 IEA I 2009-02-17 HPO:curators OMIM 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION HP:0000252 OMIM:107500 IEA O 2009-02-17 HPO:curators OMIM 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION HP:0001249 OMIM:107500 IEA O 2009-02-17 HPO:curators OMIM 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION HP:0001999 OMIM:107500 IEA O 2009-02-17 HPO:curators OMIM 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION HP:0002627 OMIM:107500 IEA O 2009-02-17 HPO:curators OMIM 107550 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA HP:0001116 OMIM:107550 TAS O 2009-02-17 HPO:probinson OMIM 107550 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA HP:0001680 OMIM:107550 TAS O 2009-02-17 HPO:probinson OMIM 107550 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA HP:0007808 OMIM:107550 IEA O 2015-07-26 HPO:skoehler OMIM 107550 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA HP:0010628 OMIM:107550 TAS O 2009-02-17 HPO:skoehler OMIM 107550 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA HP:0010817 OMIM:107550 TAS O 2009-02-17 HPO:probinson OMIM 107550 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA HP:0011611 OMIM:107550 TAS O 2009-02-17 HPO:probinson OMIM 107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC HP:0000006 OMIM:107600 TAS I 2009-02-17 HPO:probinson OMIM 107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC HP:0000007 OMIM:107600 TAS I 2009-02-17 HPO:probinson OMIM 107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC HP:0004471 OMIM:107600 TAS O 2009-02-17 HPO:probinson OMIM 107640 APNEA, CENTRAL SLEEP HP:0000006 OMIM:107640 TAS I 2009-02-17 HPO:skoehler OMIM 107640 APNEA, CENTRAL SLEEP HP:0001699 OMIM:107640 TAS M 2013-02-25 HPO:skoehler OMIM 107640 APNEA, CENTRAL SLEEP HP:0010535 OMIM:107640 TAS O 2010-06-20 HPO:skoehler OMIM 107650 APNEA, OBSTRUCTIVE SLEEP HP:0000006 OMIM:107650 TAS I 2009-02-17 HPO:probinson OMIM 107650 APNEA, OBSTRUCTIVE SLEEP HP:0000458 OMIM:107650 TAS O 2009-02-17 HPO:probinson OMIM 107650 APNEA, OBSTRUCTIVE SLEEP HP:0001262 OMIM:107650 TAS O 2010-06-20 HPO:skoehler OMIM 107650 APNEA, OBSTRUCTIVE SLEEP HP:0002384 OMIM:107650 TAS O 2009-02-17 HPO:probinson OMIM 107650 APNEA, OBSTRUCTIVE SLEEP HP:0002870 OMIM:107650 TAS O 2009-02-17 HPO:probinson OMIM 107650 APNEA, OBSTRUCTIVE SLEEP HP:0025267 OMIM:107650 IEA O 2017-07-13 HPO:skoehler OMIM 107680 APOLIPOPROTEIN A-I HP:0000006 OMIM:107680 IEA I 2017-07-13 HPO:skoehler OMIM 107680 APOLIPOPROTEIN A-I HP:0000083 OMIM:107680 IEA O 2017-07-13 HPO:skoehler OMIM 107680 APOLIPOPROTEIN A-I HP:0001635 OMIM:107680 IEA O 2017-07-13 HPO:skoehler OMIM 107680 APOLIPOPROTEIN A-I HP:0001917 OMIM:107680 IEA O 2017-07-13 HPO:skoehler OMIM 107680 APOLIPOPROTEIN A-I HP:0004398 OMIM:107680 IEA O 2017-07-13 HPO:skoehler OMIM 107680 APOLIPOPROTEIN A-I HP:0004929 OMIM:107680 IEA O 2017-07-13 HPO:skoehler OMIM 107680 APOLIPOPROTEIN A-I HP:0007957 OMIM:107680 IEA O 2017-07-13 HPO:skoehler OMIM 107680 APOLIPOPROTEIN A-I HP:0012280 OMIM:107680 IEA O 2017-07-13 HPO:skoehler OMIM 107690 APOLIPOPROTEIN A-IV HP:0000006 OMIM:107690 IEA I 2009-02-17 HPO:curators OMIM 107700 APPENDICITIS, PRONENESS TO HP:0002250 OMIM:107700 IEA O 2009-02-17 HPO:skoehler OMIM 107741 APOLIPOPROTEIN E HP:0000991 OMIM:107741 IEA O 2017-07-13 HPO:skoehler OMIM 107741 APOLIPOPROTEIN E HP:0001681 OMIM:107741 IEA O 2017-07-13 HPO:skoehler OMIM 107741 APOLIPOPROTEIN E HP:0001952 OMIM:107741 IEA O 2017-07-13 HPO:skoehler OMIM 107741 APOLIPOPROTEIN E HP:0002155 OMIM:107741 IEA O 2017-07-13 HPO:skoehler OMIM 107850 107850 ARM FOLDING PREFERENCE HP:0010982 OMIM:107850 IEA I 0017-04-03 HPO:skoehler OMIM 107900 ARMS, MALFORMATION OF HP:0000006 OMIM:107900 TAS I 2009-02-17 HPO:probinson OMIM 107900 ARMS, MALFORMATION OF HP:0002974 OMIM:107900 TAS O 2013-04-07 HPO:probinson OMIM 107900 ARMS, MALFORMATION OF HP:0002984 OMIM:107900 TAS O 2013-04-07 HPO:probinson OMIM 107900 ARMS, MALFORMATION OF HP:0003022 OMIM:107900 TAS O 2013-04-07 HPO:probinson OMIM 107970 #107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1UHL ANOMALY, INCLUDED;;CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED HP:0000006 OMIM:107970 IEA I 2009-02-17 HPO:curators OMIM 107970 #107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1UHL ANOMALY, INCLUDED;;CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED HP:0001425 OMIM:107970 IEA I 2013-03-15 HPO:skoehler OMIM 107970 #107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1UHL ANOMALY, INCLUDED;;CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED HP:0001645 OMIM:107970 IEA O 2009-02-17 HPO:curators OMIM 107970 #107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1UHL ANOMALY, INCLUDED;;CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED HP:0004308 OMIM:107970 IEA O 2009-02-17 HPO:curators OMIM 107970 #107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1UHL ANOMALY, INCLUDED;;CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED HP:0011663 OMIM:107970 TAS O 2009-02-17 HPO:skoehler OMIM 108000 ARTERIES, ANOMALIES OF HP:0000006 OMIM:108000 IEA I 2009-02-17 HPO:curators OMIM 108000 ARTERIES, ANOMALIES OF HP:0001626 OMIM:108000 IEA O 2009-02-17 HPO:curators OMIM 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN HP:0000006 OMIM:108010 IEA I 2009-02-17 HPO:curators OMIM 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN HP:0002408 OMIM:108010 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0000006 OMIM:108050 IEA I 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0000822 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0000952 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0001085 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0001101 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0001250 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0001370 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0001482 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0001698 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0001945 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0002202 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0002315 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0003155 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS HP:0006679 OMIM:108050 IEA O 2009-02-17 HPO:curators OMIM 108100 ARTHRITIS, SACROILIAC HP:0000006 OMIM:108100 IEA I 2009-02-17 HPO:curators OMIM 108100 ARTHRITIS, SACROILIAC HP:0012317 OMIM:108100 TAS O 2013-08-10 HPO:probinson OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0000006 OMIM:108120 IEA I 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0000028 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0000211 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0000954 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001032 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001181 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001188 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001193 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001374 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001762 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001838 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0001848 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0002650 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0002804 OMIM:108120 IEA O 2015-01-27 HPO:skoehler OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0002987 OMIM:108120 IEA O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0003184 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0003273 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0006380 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0009473 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0009742 OMIM:108120 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A HP:0012385 TAS O 2015-12-30 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000006 OMIM:108145 IEA I 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000218 OMIM:108145 IEA O 2014-02-06 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000286 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000325 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000411 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000483 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000486 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000490 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000508 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000512 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000540 OMIM:108145 IEA HP:0040283 O 2014-02-06 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000563 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000581 OMIM:108145 IEA O 2014-02-06 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000602 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0000767 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0001119 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0001166 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0001547 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0001776 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0002091 OMIM:108145 IEA O 2014-02-06 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0002650 OMIM:108145 IEA HP:0040283 O 2014-02-06 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0002804 OMIM:108145 IEA O 2015-01-19 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0003199 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0003725 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0004322 OMIM:108145 IEA O 2014-02-06 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0004673 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0005684 OMIM:108145 TAS O 2012-07-16 HPO:probinson OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0005879 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0006109 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0006184 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0006251 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0007703 OMIM:108145 IEA O 2009-02-17 HPO:curators OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0009921 OMIM:108145 IEA O 2010-06-18 HPO:skoehler OMIM 108145 #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB HP:0030084 OMIM:108145 IEA O 2014-09-21 HPO:skoehler OMIM 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS HP:0000006 OMIM:108200 IEA I 2009-02-17 HPO:curators OMIM 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS HP:0000407 OMIM:108200 IEA O 2009-02-17 HPO:curators OMIM 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS HP:0002804 OMIM:108200 IEA O 2015-01-19 HPO:skoehler OMIM 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS HP:0005612 OMIM:108200 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000006 OMIM:108300 IEA I 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000175 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000201 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000272 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000405 OMIM:108300 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000407 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000463 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000501 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000518 OMIM:108300 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000541 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000545 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000618 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000767 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0000926 OMIM:108300 TAS O 2013-04-14 HPO:probinson OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0001166 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0001519 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0001634 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0002650 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0002655 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0002808 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0003040 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0004568 OMIM:108300 TAS O 2013-04-14 HPO:probinson OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0005280 OMIM:108300 IEA O 2009-02-17 HPO:curators OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0006361 OMIM:108300 IEA O 2012-10-12 HPO:skoehler OMIM 108300 #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM HP:0011800 OMIM:108300 IEA O 2015-11-15 HPO:skoehler OMIM 108320 ARTICHOKE, MODIFICATION OF TASTE BY HP:0000223 OMIM:108320 IEA O 2009-02-17 HPO:skoehler OMIM 108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY HP:0000707 OMIM:108390 IEA O 2009-02-17 HPO:curators OMIM 108420 SPERMATOGENIC FAILURE 2 HP:0000006 OMIM:108420 IEA I 2017-07-13 HPO:skoehler OMIM 108420 SPERMATOGENIC FAILURE 2 HP:0000027 OMIM:108420 IEA O 2017-07-13 HPO:skoehler OMIM 108420 SPERMATOGENIC FAILURE 2 HP:0000798 OMIM:108420 IEA O 2017-07-13 HPO:skoehler OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0000347 OMIM:108450 IEA O 2009-02-17 HPO:curators OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0000444 OMIM:108450 IEA O 2010-06-20 HPO:skoehler OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0000540 OMIM:108450 IEA O 2009-02-17 HPO:curators OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0000565 OMIM:108450 IEA O 2009-02-17 HPO:curators OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0000678 OMIM:108450 IEA O 2009-02-17 HPO:curators OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0002007 OMIM:108450 IEA O 2009-02-17 HPO:curators OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0002949 OMIM:108450 TAS O 2009-02-17 HPO:probinson OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0004626 OMIM:108450 IEA O 2009-02-17 HPO:curators OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0008929 OMIM:108450 IEA O 2009-02-17 HPO:curators OMIM 108450 108450 ASYMMETRIC SHORT STATURE SYNDROME HP:0200053 OMIM:108450 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0000006 OMIM:108500 IEA I 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0000360 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0000640 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0000651 OMIM:108500 IEA O 2012-10-12 HPO:skoehler OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0001152 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0001260 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0001324 OMIM:108500 TAS O 2012-04-11 HPO:probinson OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0001332 OMIM:108500 TAS O 2012-04-11 HPO:probinson OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0001751 OMIM:108500 TAS O 2009-02-17 HPO:probinson OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0002073 OMIM:108500 IEA O 2012-10-12 HPO:skoehler OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0002076 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0002131 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0002321 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0002486 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0003401 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0003829 OMIM:108500 IEA C 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0006855 OMIM:108500 IEA O 2009-02-17 HPO:curators OMIM 108500 EPISODIC ATAXIA, TYPE 2 HP:0010545 OMIM:108500 IEA O 2012-10-12 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0000006 OMIM:108600 IEA I 2009-02-17 HPO:curators OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0000508 OMIM:108600 IEA O 2014-07-11 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0000514 OMIM:108600 IEA O 2014-07-11 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0000605 OMIM:108600 IEA O 2014-07-11 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001258 OMIM:108600 IEA O 2009-02-17 HPO:curators OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001260 OMIM:108600 IEA O 2009-02-17 HPO:curators OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001288 OMIM:108600 IEA O 2014-07-11 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001332 OMIM:108600 IEA O 2014-07-11 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001347 OMIM:108600 IEA O 2014-07-11 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0001761 OMIM:108600 IEA O 2014-07-11 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0002015 OMIM:108600 IEA O 2014-07-11 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0002354 OMIM:108600 IEA O 2009-02-17 HPO:curators OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0002497 OMIM:108600 IEA O 2009-02-17 HPO:curators OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0003828 TAS C 2015-12-30 HPO:skoehler OMIM 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 HP:0008969 OMIM:108600 IEA O 2009-02-17 HPO:curators OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0000006 OMIM:108650 IEA I 2009-02-17 HPO:curators OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0000549 OMIM:108650 IEA O 2009-02-17 HPO:curators OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0000639 OMIM:108650 IEA O 2009-02-17 HPO:curators OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0000648 OMIM:108650 IEA HP:0040283 O 2012-12-03 HPO:skoehler OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0001260 OMIM:108650 IEA O 2009-02-17 HPO:curators OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0001347 OMIM:108650 IEA O 2009-02-17 HPO:curators OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0002075 OMIM:108650 IEA O 2012-12-03 HPO:skoehler OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0002497 OMIM:108650 IEA O 2009-02-17 HPO:curators OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0003487 OMIM:108650 IEA O 2009-02-17 HPO:curators OMIM 108650 %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA HP:0007728 OMIM:108650 IEA O 2009-02-17 HPO:curators OMIM 108700 ATAXIA WITH FASCICULATIONS HP:0000006 OMIM:108700 IEA I 2009-02-17 HPO:curators OMIM 108700 ATAXIA WITH FASCICULATIONS HP:0001251 OMIM:108700 IEA O 2009-02-17 HPO:curators OMIM 108700 ATAXIA WITH FASCICULATIONS HP:0002380 OMIM:108700 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000006 TAS I 2015-12-30 HPO:skoehler OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000028 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000175 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000272 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000347 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000470 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000520 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000774 OMIM:108720 TAS O 2015-02-01 HPO:probinson OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0000878 OMIM:108720 TAS O 2009-02-17 HPO:probinson OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001156 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001217 OMIM:108720 IEA O 2013-01-22 HPO:skoehler OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001561 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001602 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001622 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0001762 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002007 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002084 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002949 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002982 OMIM:108720 IEA O 2010-06-20 HPO:skoehler OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002986 OMIM:108720 IEA O 2010-06-20 HPO:skoehler OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0002990 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003042 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003097 OMIM:108720 TAS O 2012-06-10 HPO:probinson OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003196 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003417 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003745 OMIM:108720 IEA I 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003811 OMIM:108720 IEA M 2013-01-22 HPO:skoehler OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0003826 OMIM:108720 IEA M 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0004592 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0005280 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0005792 OMIM:108720 TAS O 2009-02-17 HPO:probinson OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0006406 OMIM:108720 TAS O 2012-06-10 HPO:probinson OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0006408 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0006495 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0008905 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0010049 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0010743 OMIM:108720 IEA O 2009-02-17 HPO:curators OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0011800 OMIM:108720 IEA O 2013-11-28 HPO:skoehler OMIM 108720 ATELOSTEOGENESIS, TYPE I; AO1 HP:0030330 OMIM:108720 TAS O 2015-04-19 HPO:probinson OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0000006 OMIM:108721 IEA I 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0000175 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0000269 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0000272 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0000327 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0000347 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0000470 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0001234 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0001762 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0001852 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0002007 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0002650 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0002947 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0002982 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0002986 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0003042 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0003180 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0003440 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0004632 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0004976 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0005280 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0006060 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0006200 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0008905 OMIM:108721 IEA O 2009-02-17 HPO:curators OMIM 108721 #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3 HP:0011800 OMIM:108721 IEA O 2013-11-28 HPO:skoehler OMIM 108725 ATHEROSCLEROSIS SUSCEPTIBILITY HP:0000006 OMIM:108725 IEA I 2009-02-17 HPO:curators OMIM 108725 ATHEROSCLEROSIS SUSCEPTIBILITY HP:0001658 OMIM:108725 TAS O 2009-02-17 HPO:probinson OMIM 108725 ATHEROSCLEROSIS SUSCEPTIBILITY HP:0002155 OMIM:108725 TAS O 2009-02-17 HPO:probinson OMIM 108725 ATHEROSCLEROSIS SUSCEPTIBILITY HP:0003233 OMIM:108725 TAS O 2012-10-20 HPO:probinson OMIM 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS HP:0000402 OMIM:108760 PCS O 2012-03-31 HPO:probinson OMIM 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS HP:0000405 IEA O 2009-02-17 HPO:curators OMIM 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS HP:0000413 OMIM:108760 PCS O 2012-03-31 HPO:probinson OMIM 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS HP:0005906 IEA O 2009-02-17 HPO:curators OMIM 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS HP:0008773 IEA O 2009-02-17 HPO:curators OMIM 108770 ATRIAL STANDSTILL 1 HP:0000006 OMIM:108770 PCS I 2012-04-11 HPO:probinson OMIM 108770 ATRIAL STANDSTILL 1 HP:0001706 OMIM:108770 PCS O 2012-04-11 HPO:probinson OMIM 108770 ATRIAL STANDSTILL 1 HP:0006699 OMIM:108770 PCS O 2012-04-11 HPO:probinson OMIM 108770 ATRIAL STANDSTILL 1 HP:0011705 OMIM:108770 PCS O 2012-04-11 HPO:probinson OMIM 108770 ATRIAL STANDSTILL 1 HP:0025478 OMIM:108770 IEA O 2017-07-13 HPO:skoehler OMIM 108770 ATRIAL STANDSTILL 1 HP:0200127 OMIM:108770 IEA O 2013-06-11 HPO:skoehler OMIM 108800 ATRIAL SEPTAL DEFECT 1 HP:0001631 OMIM:108800 IEA O 2009-02-17 HPO:curators OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0000006 OMIM:108900 TAS I 2009-02-17 HPO:probinson OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0001629 OMIM:108900 TAS HP:0040283 O 2012-10-12 HPO:skoehler OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0001636 OMIM:108900 TAS HP:0040283 O 2012-10-12 HPO:skoehler OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0001682 OMIM:108900 TAS HP:0040283 O 2012-11-18 HPO:skoehler OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0001684 OMIM:108900 TAS O 2013-04-07 HPO:probinson OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0001712 OMIM:108900 TAS HP:0040283 O 2012-10-12 HPO:skoehler OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0004935 OMIM:108900 TAS HP:0040283 O 2012-10-12 HPO:skoehler OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0005110 OMIM:108900 TAS O 2012-10-12 HPO:skoehler OMIM 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS HP:0012248 OMIM:108900 TAS O 2013-04-07 HPO:probinson OMIM 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL HP:0000006 OMIM:108950 PCS I 2012-04-09 HPO:probinson OMIM 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL HP:0004754 OMIM:108950 PCS O 2012-04-09 HPO:probinson OMIM 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL HP:0004757 OMIM:108950 PCS O 2012-04-09 HPO:probinson OMIM 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL HP:0005165 OMIM:108950 PCS O 2012-04-09 HPO:probinson OMIM 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL HP:0006671 OMIM:108950 PCS O 2012-04-09 HPO:probinson OMIM 108985 SVEINSSON CHORIORETINAL ATROPHY HP:0000006 OMIM:108985 IEA I 2009-02-17 HPO:curators OMIM 108985 SVEINSSON CHORIORETINAL ATROPHY HP:0000483 OMIM:108985 IEA O 2010-06-20 HPO:skoehler OMIM 108985 SVEINSSON CHORIORETINAL ATROPHY HP:0000545 OMIM:108985 TAS O 2009-02-17 HPO:probinson OMIM 108985 SVEINSSON CHORIORETINAL ATROPHY HP:0003677 OMIM:108985 IEA C 2009-02-17 HPO:curators OMIM 108985 SVEINSSON CHORIORETINAL ATROPHY HP:0007950 OMIM:108985 IEA O 2009-02-17 HPO:curators OMIM 109000 AURICULOOSTEODYSPLASIA HP:0000006 OMIM:109000 IEA I 2009-02-17 HPO:curators OMIM 109000 AURICULOOSTEODYSPLASIA HP:0001385 OMIM:109000 IEA O 2009-02-17 HPO:curators OMIM 109000 AURICULOOSTEODYSPLASIA HP:0003083 OMIM:109000 TAS O 2009-02-17 HPO:skoehler OMIM 109000 AURICULOOSTEODYSPLASIA HP:0004322 OMIM:109000 IEA O 2009-02-17 HPO:curators OMIM 109000 AURICULOOSTEODYSPLASIA HP:0009907 OMIM:109000 TAS O 2013-04-01 HPO:probinson OMIM 109050 AUROCEPHALOSYNDACTYLY HP:0000006 OMIM:109050 IEA I 2009-02-17 HPO:curators OMIM 109050 AUROCEPHALOSYNDACTYLY HP:0000365 OMIM:109050 IEA O 2009-02-17 HPO:curators OMIM 109050 AUROCEPHALOSYNDACTYLY HP:0001256 OMIM:109050 IEA O 2009-02-17 HPO:curators OMIM 109050 AUROCEPHALOSYNDACTYLY HP:0001363 OMIM:109050 IEA O 2009-02-17 HPO:curators OMIM 109050 AUROCEPHALOSYNDACTYLY HP:0002000 OMIM:109050 IEA O 2009-02-17 HPO:curators OMIM 109050 AUROCEPHALOSYNDACTYLY HP:0004692 OMIM:109050 IEA O 2009-02-17 HPO:curators OMIM 109050 AUROCEPHALOSYNDACTYLY HP:0030680 OMIM:109050 IEA O 2009-02-17 HPO:curators OMIM 109100 AUTOIMMUNE DISEASE HP:0030057 OMIM:109100 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000006 OMIM:109120 IEA I 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000238 OMIM:109120 IEA O 2015-12-30 HPO:skoehler OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000248 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000256 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000272 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000316 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000327 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000407 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000486 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000506 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000520 OMIM:109120 IEA O 2010-06-20 HPO:skoehler OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000558 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0000925 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0001249 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0001274 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0001290 OMIM:109120 IEA O 2017-07-13 HPO:skoehler OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0002119 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0002673 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0002690 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0002827 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0004322 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0006958 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0007873 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0007886 OMIM:109120 IEA O 2009-02-17 HPO:curators OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES HP:0012368 OMIM:109120 IEA O 2013-10-22 HPO:skoehler OMIM 109130 AXIAL OSTEOMALACIA HP:0000006 OMIM:109130 TAS I 2009-02-17 HPO:probinson OMIM 109130 AXIAL OSTEOMALACIA HP:0000107 OMIM:109130 IEA O 2012-10-12 HPO:skoehler OMIM 109130 AXIAL OSTEOMALACIA HP:0002749 OMIM:109130 TAS O 2009-02-17 HPO:probinson OMIM 109130 AXIAL OSTEOMALACIA HP:0003198 OMIM:109130 TAS O 2009-02-17 HPO:probinson OMIM 109130 AXIAL OSTEOMALACIA HP:0003236 OMIM:109130 TAS O 2009-02-17 HPO:probinson OMIM 109130 AXIAL OSTEOMALACIA HP:0003701 OMIM:109130 TAS O 2009-02-17 HPO:probinson OMIM 109130 AXIAL OSTEOMALACIA HP:0006557 OMIM:109130 IEA O 2012-10-12 HPO:skoehler OMIM 109130 AXIAL OSTEOMALACIA HP:0011001 OMIM:109130 TAS O 2009-02-17 HPO:probinson OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000006 OMIM:109150 TAS I 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000508 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000520 OMIM:109150 TAS O 2009-02-17 HPO:probinson OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000544 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000623 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000640 PMID:10525976 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000641 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000651 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0000726 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0001151 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0001251 PMID:19659750 PCS HP:0040284 O 2010-09-09 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0001257 PMID:18685131 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0001260 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0001272 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0001300 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0001332 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002015 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002063 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002067 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002070 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002073 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002078 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002171 OMIM:109150 TAS O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002172 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002198 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002380 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002459 OMIM:109150 TAS HP:0040283 O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002495 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002503 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0002839 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0003394 OMIM:109150 IEA O 2012-10-12 HPO:skoehler OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0003438 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0003487 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0003676 PMID:19659750 PCS C 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0003693 OMIM:109150 TAS O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0003743 OMIM:109150 IEA I 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0007089 OMIM:109150 IEA O 2009-02-17 HPO:curators OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0012532 OMIM:109150 IEA O 2014-01-28 HPO:skoehler OMIM 109150 MACHADO-JOSEPH DISEASE; MJD HP:0030454 TAS O 2015-12-30 HPO:skoehler OMIM 109160 %109160 AZOTEMIA, FAMILIAL HP:0000006 OMIM:109160 IEA I 2009-02-17 HPO:curators OMIM 109160 %109160 AZOTEMIA, FAMILIAL HP:0002157 OMIM:109160 IEA O 2009-02-17 HPO:curators OMIM 109200 ALOPECIA, ANDROGENETIC, 1 HP:0001470 OMIM:109200 IEA I 2012-10-12 HPO:skoehler OMIM 109200 ALOPECIA, ANDROGENETIC, 1 HP:0001596 OMIM:109200 TAS O 2009-02-17 HPO:probinson OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0000006 TAS I 2015-12-30 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0000952 OMIM:109270 IEA O 2014-01-28 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0001744 OMIM:109270 IEA O 2014-01-28 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0001878 TAS O 2015-12-30 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0001923 OMIM:109270 IEA O 2014-01-28 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0001927 OMIM:109270 IEA O 2014-01-28 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0002904 OMIM:109270 IEA O 2014-01-28 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0004444 TAS O 2015-12-30 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0004445 OMIM:109270 IEA O 2014-01-28 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0004446 OMIM:109270 IEA O 2014-01-28 HPO:skoehler OMIM 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 HP:0005502 OMIM:109270 IEA O 2014-01-28 HPO:skoehler OMIM 109300 109300 BANKI SYNDROME HP:0000006 OMIM:109300 IEA I 2009-02-17 HPO:curators OMIM 109300 109300 BANKI SYNDROME HP:0009466 OMIM:109300 IEA O 2009-02-17 HPO:curators OMIM 109300 109300 BANKI SYNDROME HP:0030084 OMIM:109300 IEA O 2014-09-21 HPO:skoehler OMIM 109350 GASTROESOPHAGEAL REFLUX HP:0000006 OMIM:109350 TAS I 2009-02-17 HPO:probinson OMIM 109350 GASTROESOPHAGEAL REFLUX HP:0002020 OMIM:109350 TAS O 2009-02-17 HPO:probinson OMIM 109350 GASTROESOPHAGEAL REFLUX HP:0100580 OMIM:109350 TAS O 2015-02-01 HPO:probinson OMIM 109350 GASTROESOPHAGEAL REFLUX HP:0100633 OMIM:109350 TAS O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000006 OMIM:109400 PCS I 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000175 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000204 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000238 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000242 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000256 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS HP:0003577 O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000280 PMID:9096761 PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000283 OMIM:109400 IEA O 2017-07-13 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000303 PMID:12116218 PCS O 2012-04-30 HPO:probinson OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000316 PMID:9096761 PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000431 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000486 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000501 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000518 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000568 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000612 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000766 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000773 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000892 PMID:9096761 PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0000912 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0001056 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0001144 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0001156 OMIM:109400 IEA O 2014-11-26 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0001249 OMIM:109400 IEA HP:0040283 O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0001270 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS HP:0003593 O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0001425 OMIM:109400 PCS I 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002007 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002007 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002414 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002650 OMIM:109400 PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002671 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS HP:0011462 O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002751 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002885 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS HP:0011463 O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002937 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0002948 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0003828 OMIM:109400 PCS C 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0004280 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0004795 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0005449 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0005462 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS HP:0011462 O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0005815 OMIM:109400 PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0008422 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0009650 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0009729 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0010044 OMIM:109400 IEA O 2012-10-12 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0010442 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0010603 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS HP:0003621 O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0010609 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0010610 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0010612 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0010617 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-02-17 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0010618 PMID:9096761 PCS O 2009-10-28 HPO:curators OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0025318 OMIM:109400 IEA O 2017-07-13 HPO:skoehler OMIM 109400 BASAL CELL NEVUS SYNDROME HP:0200021 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns PCS O 2009-10-27 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0000006 OMIM:109500 IEA I 2009-02-17 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0000470 OMIM:109500 IEA O 2009-02-17 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0002277 OMIM:109500 IEA O 2009-02-17 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0002691 OMIM:109500 IEA O 2010-06-18 HPO:skoehler OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0002751 OMIM:109500 IEA O 2009-02-17 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0003396 OMIM:109500 TAS O 2013-03-30 HPO:probinson OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0003690 OMIM:109500 IEA O 2009-02-17 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0003828 OMIM:109500 IEA C 2013-04-02 HPO:skoehler OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0003829 OMIM:109500 IEA C 2009-02-17 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0004484 OMIM:109500 IEA O 2009-02-17 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0005758 OMIM:109500 IEA O 2009-02-17 HPO:curators OMIM 109500 %109500 BASILAR IMPRESSION, PRIMARY HP:0005788 OMIM:109500 IEA O 2009-02-17 HPO:curators OMIM 109543 B-CELL MALIGNANCY, LOW-GRADE HP:0000006 OMIM:109543 IEA I 2009-02-17 HPO:curators OMIM 109543 B-CELL MALIGNANCY, LOW-GRADE HP:0005550 OMIM:109543 IEA O 2009-02-17 HPO:curators OMIM 109560 B-CELL LEUKEMIA/LYMPHOMA 3 HP:0002665 OMIM:109560 IEA O 2015-01-27 HPO:skoehler OMIM 109560 B-CELL LEUKEMIA/LYMPHOMA 3 HP:0005550 OMIM:109560 IEA O 2009-02-17 HPO:curators OMIM 109600 BEETURIA HP:0000006 OMIM:109600 IEA I 2009-02-17 HPO:curators OMIM 109600 BEETURIA HP:0001939 OMIM:109600 IEA O 2009-02-17 HPO:curators OMIM 109650 BEHCET SYNDROME HP:0000031 OMIM:109650 TAS O 2009-02-17 HPO:probinson OMIM 109650 BEHCET SYNDROME HP:0000155 OMIM:109650 TAS O 2009-02-17 HPO:skoehler OMIM 109650 BEHCET SYNDROME HP:0000737 OMIM:109650 IEA O 2010-06-20 HPO:skoehler OMIM 109650 BEHCET SYNDROME HP:0001094 OMIM:109650 IEA O 2009-02-17 HPO:curators OMIM 109650 BEHCET SYNDROME HP:0001101 OMIM:109650 IEA O 2009-02-17 HPO:curators OMIM 109650 BEHCET SYNDROME HP:0001369 OMIM:109650 IEA O 2009-02-17 HPO:curators OMIM 109650 BEHCET SYNDROME HP:0002229 OMIM:109650 IEA O 2009-02-17 HPO:curators OMIM 109650 BEHCET SYNDROME HP:0002638 OMIM:109650 IEA O 2009-02-17 HPO:curators OMIM 109650 BEHCET SYNDROME HP:0003249 OMIM:109650 TAS O 2009-02-17 HPO:skoehler OMIM 109650 BEHCET SYNDROME HP:0010783 OMIM:109650 IEA O 2010-06-20 HPO:skoehler OMIM 109650 BEHCET SYNDROME HP:0012424 OMIM:109650 TAS O 2015-07-19 HPO:probinson OMIM 109650 BEHCET SYNDROME HP:0030880 OMIM:109650 IEA O 2017-07-13 HPO:skoehler OMIM 109720 BILIARY CIRRHOSIS, PRIMARY HP:0000006 OMIM:109720 TAS I 2009-02-17 HPO:skoehler OMIM 109720 BILIARY CIRRHOSIS, PRIMARY HP:0002613 OMIM:109720 TAS O 2009-02-17 HPO:skoehler OMIM 109730 #109730 AORTIC VALVE DISEASE 1; AOVD1;;AORTIC VALVE DISEASE;;BICUSPID AORTIC VALVE; BAV;;AORTIC VALVE, BICUSPID;;AORTIC VALVE, CALCIFICATION OF;;AORTIC STENOSIS, CALCIFIC HP:0000006 OMIM:109730 IEA I 2013-05-29 HPO:skoehler OMIM 109730 #109730 AORTIC VALVE DISEASE 1; AOVD1;;AORTIC VALVE DISEASE;;BICUSPID AORTIC VALVE; BAV;;AORTIC VALVE, BICUSPID;;AORTIC VALVE, CALCIFICATION OF;;AORTIC STENOSIS, CALCIFIC HP:0001647 OMIM:109730 IEA O 2009-02-17 HPO:curators OMIM 109730 #109730 AORTIC VALVE DISEASE 1; AOVD1;;AORTIC VALVE DISEASE;;BICUSPID AORTIC VALVE; BAV;;AORTIC VALVE, BICUSPID;;AORTIC VALVE, CALCIFICATION OF;;AORTIC STENOSIS, CALCIFIC HP:0001650 OMIM:109730 IEA O 2015-01-21 HPO:skoehler OMIM 109740 109740 BIFID NOSE, AUTOSOMAL DOMINANT HP:0000006 OMIM:109740 IEA I 2012-10-17 HPO:skoehler OMIM 109740 109740 BIFID NOSE, AUTOSOMAL DOMINANT HP:0000028 OMIM:109740 IEA O 2009-02-17 HPO:curators OMIM 109740 109740 BIFID NOSE, AUTOSOMAL DOMINANT HP:0000508 OMIM:109740 IEA O 2009-02-17 HPO:curators OMIM 109740 109740 BIFID NOSE, AUTOSOMAL DOMINANT HP:0000924 OMIM:109740 IEA O 2009-02-17 HPO:curators OMIM 109740 109740 BIFID NOSE, AUTOSOMAL DOMINANT HP:0011803 OMIM:109740 IEA O 2012-10-17 HPO:skoehler OMIM 109800 BLADDER CANCER HP:0000006 OMIM:109800 IEA I 2009-02-17 HPO:curators OMIM 109800 BLADDER CANCER HP:0006740 OMIM:109800 IEA O 2009-02-17 HPO:curators OMIM 109820 109820 BLADDER DIVERTICULUM HP:0000006 OMIM:109820 IEA I 2009-02-17 HPO:curators OMIM 109820 109820 BLADDER DIVERTICULUM HP:0000010 OMIM:109820 IEA O 2009-02-17 HPO:curators OMIM 109820 109820 BLADDER DIVERTICULUM HP:0000019 OMIM:109820 TAS O 2009-02-17 HPO:skoehler OMIM 109820 109820 BLADDER DIVERTICULUM HP:0000790 OMIM:109820 IEA O 2009-02-17 HPO:curators OMIM 109820 109820 BLADDER DIVERTICULUM HP:0008664 OMIM:109820 IEA O 2009-02-17 HPO:curators OMIM 109820 109820 BLADDER DIVERTICULUM HP:0008691 OMIM:109820 IEA O 2009-02-17 HPO:curators OMIM 109820 109820 BLADDER DIVERTICULUM HP:0008742 OMIM:109820 IEA O 2009-02-17 HPO:curators OMIM 109820 109820 BLADDER DIVERTICULUM HP:0100518 OMIM:109820 IEA O 2012-10-17 HPO:skoehler OMIM 109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0000006 OMIM:109900 IEA I 2009-02-17 HPO:curators OMIM 109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0000478 OMIM:109900 IEA O 2009-02-17 HPO:curators OMIM 109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0000853 OMIM:109900 IEA O 2010-06-20 HPO:skoehler OMIM 109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0010749 OMIM:109900 IEA O 2015-01-27 HPO:skoehler OMIM 109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0040295 OMIM:109900 IEA O 2017-07-13 HPO:skoehler OMIM 110000 BLEPHAROCHALASIS, SUPERIOR HP:0000006 OMIM:110000 TAS I 2009-02-17 HPO:probinson OMIM 110000 BLEPHAROCHALASIS, SUPERIOR HP:0010749 OMIM:110000 TAS O 2009-02-17 HPO:probinson OMIM 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME HP:0000006 OMIM:110050 IEA I 2009-02-17 HPO:curators OMIM 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME HP:0000298 OMIM:110050 IEA O 2009-02-17 HPO:curators OMIM 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME HP:0000506 OMIM:110050 IEA O 2009-02-17 HPO:curators OMIM 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME HP:0001249 OMIM:110050 IEA O 2009-02-17 HPO:curators OMIM 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME HP:0001304 OMIM:110050 IEA O 2009-02-17 HPO:curators OMIM 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME HP:0010628 OMIM:110050 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000006 OMIM:110100 IEA I 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000013 OMIM:110100 IEA O 2017-07-13 HPO:skoehler OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000141 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000218 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000378 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000431 OMIM:110100 TAS O 2012-05-01 HPO:probinson OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000482 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000486 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000506 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000508 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000537 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000540 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000568 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000581 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000639 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000769 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000837 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0001595 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0005280 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0005280 OMIM:110100 TAS O 2012-05-01 HPO:probinson OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0008209 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0008222 OMIM:110100 IEA O 2009-02-17 HPO:curators OMIM 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS HP:0000006 OMIM:110150 IEA I 2009-02-17 HPO:curators OMIM 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS HP:0000545 OMIM:110150 IEA O 2009-02-17 HPO:curators OMIM 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS HP:0001083 OMIM:110150 IEA O 2009-02-17 HPO:curators OMIM 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS HP:0007800 OMIM:110150 TAS O 2013-04-01 HPO:probinson OMIM 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS HP:0007970 OMIM:110150 TAS O 2009-02-17 HPO:skoehler OMIM 110700 BLOOD GROUP--DUFFY SYSTEM HP:0000006 OMIM:110700 IEA I 2009-02-17 HPO:curators OMIM 110700 BLOOD GROUP--DUFFY SYSTEM HP:0001939 OMIM:110700 IEA O 2009-02-17 HPO:curators OMIM 110700 BLOOD GROUP--DUFFY SYSTEM HP:0002715 OMIM:110700 IEA O 2009-02-17 HPO:curators OMIM 110800 BLOOD GROUP, I SYSTEM HP:0000006 OMIM:110800 IEA I 2017-07-13 HPO:skoehler OMIM 110800 BLOOD GROUP, I SYSTEM HP:0010970 OMIM:110800 IEA O 2013-01-09 HPO:skoehler OMIM 111150 BLOOD GROUP--LUTHERAN INHIBITOR; INLU HP:0010971 OMIM:111150 IEA O 2013-01-09 HPO:skoehler OMIM 111400 #111400 BLOOD GROUP, P1PK SYSTEMP(1) PHENOTYPE, INCLUDED;;P(2) PHENOTYPE, INCLUDED;;P1(k) PHENOTYPE, INCLUDED;;P2(k) PHENOTYPE, INCLUDED;;p PHENOTYPE, INCLUDED;;NOR POLYAGGLUTINATION SYNDROME, INCLUDED HP:0000006 OMIM:111400 IEA I #111400 BLOOD GROUP, P1PK SYSTEMP(1) PHENOTYPE, INCLUDED;;P(2) PHENOTYPE, INCLUDED;;P1(K) PHENOTYPE, INCLUDED;;P2(K) PHENOTYPE, INCLUDED;;P PHENOTYPE, INCLUDED;;NOR POLYAGGLUTINATION SYNDROME, INCLUDED 2015-08-22 HPO:skoehler OMIM 111400 #111400 BLOOD GROUP, P1PK SYSTEMP(1) PHENOTYPE, INCLUDED;;P(2) PHENOTYPE, INCLUDED;;P1(k) PHENOTYPE, INCLUDED;;P2(k) PHENOTYPE, INCLUDED;;p PHENOTYPE, INCLUDED;;NOR POLYAGGLUTINATION SYNDROME, INCLUDED HP:0010970 OMIM:111400 IEA O #111400 BLOOD GROUP, P1PK SYSTEMP(1) PHENOTYPE, INCLUDED;;P(2) PHENOTYPE, INCLUDED;;P1(K) PHENOTYPE, INCLUDED;;P2(K) PHENOTYPE, INCLUDED;;P PHENOTYPE, INCLUDED;;NOR POLYAGGLUTINATION SYNDROME, INCLUDED 2015-08-22 HPO:skoehler OMIM 111620 #111620 RADIN BLOOD GROUP ANTIGEN; RD;;BLOOD GROUP--RADIN ANTIGEN HP:0010701 OMIM:111620 IEA O 2013-01-09 HPO:skoehler OMIM 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0000007 pmid:9657769 PCS I RHESUS BLOOD GROUP, CCEE ANTIGENS; RHCE 2015-03-28 HPO:probinson OMIM 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0004446 pmid:9657769 PCS O RHESUS BLOOD GROUP, CCEE ANTIGENS; RHCE 2015-03-28 HPO:probinson OMIM 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE HP:0004870 pmid:9657769 PCS O RHESUS BLOOD GROUP, CCEE ANTIGENS; RHCE 2015-03-28 HPO:probinson OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0000006 OMIM:112200 IEA I 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0000153 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0001028 OMIM:112200 IEA O 2010-06-20 HPO:skoehler OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0001034 OMIM:112200 IEA O 2010-06-20 HPO:skoehler OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0001392 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0001873 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0001891 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0002035 OMIM:112200 IEA O 2012-10-17 HPO:skoehler OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0002086 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0002576 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0002580 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0002584 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0002756 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0005520 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112200 %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME HP:0007129 OMIM:112200 IEA O 2009-02-17 HPO:curators OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0000006 OMIM:112240 IEA I 2009-02-17 HPO:curators OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0000347 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0000586 OMIM:112240 IEA O 2009-02-17 HPO:curators OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0000691 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0000938 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES PROGRESSIVE HP:0001334 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0001620 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0002007 OMIM:112240 IEA O 2009-02-17 HPO:curators OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0002757 OMIM:112240 TAS O 2009-02-17 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0002953 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0004322 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0004440 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0005472 OMIM:112240 IEA O 2009-02-17 HPO:curators OMIM 112240 #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES HP:0011800 OMIM:112240 IEA O 2015-05-31 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0000006 OMIM:112250 TAS I 2009-02-17 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0000938 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0000963 OMIM:112250 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0000963 OMIM:112250 TAS HP:0040283 O 2013-08-07 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0000977 OMIM:112250 TAS HP:0040283 O 2013-08-07 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0000978 OMIM:112250 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0002216 OMIM:112250 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0002669 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0002756 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0002979 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0003084 OMIM:112250 IEA O 2012-11-16 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0003198 OMIM:112250 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0003202 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0003325 TAS O 2015-12-30 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0003676 OMIM:112250 IEA C 2012-10-17 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0003690 OMIM:112250 IEA HP:0003584 O 2012-11-16 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0003701 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0005010 OMIM:112250 IEA O 2012-10-17 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0005045 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0005686 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0007819 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0012315 OMIM:112250 IEA O 2015-01-21 HPO:skoehler OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0100244 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH HP:0100254 OMIM:112250 TAS O 2012-07-16 HPO:probinson OMIM 112270 BONE PAIN, PERIODIC HP:0000006 OMIM:112270 IEA I 2009-02-17 HPO:curators OMIM 112270 BONE PAIN, PERIODIC HP:0002653 OMIM:112270 TAS O 2009-02-17 HPO:probinson OMIM 112300 BOOK SYNDROME HP:0000006 OMIM:112300 TAS I 2009-02-17 HPO:probinson OMIM 112300 BOOK SYNDROME HP:0000668 OMIM:112300 TAS O 2010-06-20 HPO:skoehler OMIM 112300 BOOK SYNDROME HP:0002216 OMIM:112300 TAS O 2009-09-17 HPO:skoehler OMIM 112300 BOOK SYNDROME HP:0007410 OMIM:112300 TAS O 2009-02-17 HPO:probinson OMIM 112310 BOOMERANG DYSPLASIA HP:0000006 OMIM:112310 IEA I 2009-02-17 HPO:curators OMIM 112310 BOOMERANG DYSPLASIA HP:0000430 OMIM:112310 TAS O 2012-06-10 HPO:probinson OMIM 112310 BOOMERANG DYSPLASIA HP:0000431 OMIM:112310 IEA O 2009-02-17 HPO:curators OMIM 112310 BOOMERANG DYSPLASIA HP:0002990 OMIM:112310 TAS O 2012-06-10 HPO:probinson OMIM 112310 BOOMERANG DYSPLASIA HP:0003510 OMIM:112310 TAS O 2009-02-17 HPO:probinson OMIM 112310 BOOMERANG DYSPLASIA HP:0003811 OMIM:112310 TAS M 2009-02-17 HPO:probinson OMIM 112310 BOOMERANG DYSPLASIA HP:0003974 OMIM:112310 TAS O 2009-02-17 HPO:probinson OMIM 112310 BOOMERANG DYSPLASIA HP:0005104 OMIM:112310 TAS O 2012-06-10 HPO:probinson OMIM 112310 BOOMERANG DYSPLASIA HP:0008824 OMIM:112310 IEA O 2009-02-17 HPO:curators OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0000006 OMIM:112350 IEA I 2009-02-17 HPO:curators OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0000696 OMIM:112350 IEA HP:0040283 O 2013-03-08 HPO:skoehler OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0001249 OMIM:112350 IEA O 2009-02-17 HPO:curators OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0002650 OMIM:112350 IEA O 2013-03-08 HPO:skoehler OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0002808 OMIM:112350 IEA O 2013-03-08 HPO:skoehler OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0003177 OMIM:112350 IEA O 2009-02-17 HPO:curators OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0003440 OMIM:112350 IEA O 2013-03-08 HPO:skoehler OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0003510 OMIM:112350 IEA O 2010-06-20 HPO:skoehler OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0004490 OMIM:112350 IEA HP:0040283 O 2013-03-08 HPO:skoehler OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0006487 OMIM:112350 IEA O 2009-02-17 HPO:curators OMIM 112350 %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE HP:0010538 OMIM:112350 IEA HP:0040283 O 2013-03-08 HPO:skoehler OMIM 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY HP:0000006 OMIM:112370 IEA I 2009-02-17 HPO:curators OMIM 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY HP:0000252 OMIM:112370 IEA O 2009-02-17 HPO:curators OMIM 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY HP:0000271 OMIM:112370 IEA O 2009-02-17 HPO:curators OMIM 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY HP:0001263 OMIM:112370 IEA O 2009-02-17 HPO:curators OMIM 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY HP:0001510 OMIM:112370 IEA O 2009-02-17 HPO:curators OMIM 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY HP:0001840 OMIM:112370 IEA O 2009-02-17 HPO:curators OMIM 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY HP:0007560 OMIM:112370 IEA O 2009-02-17 HPO:curators OMIM 112410 #112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME HP:0000006 OMIM:112410 IEA I 2009-02-17 HPO:curators OMIM 112410 #112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME HP:0000822 OMIM:112410 IEA O 2009-02-17 HPO:curators OMIM 112410 #112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME HP:0001156 OMIM:112410 IEA O 2014-11-26 HPO:skoehler OMIM 112410 #112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME HP:0004322 OMIM:112410 IEA O 2015-07-26 HPO:skoehler OMIM 112410 #112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME HP:0009803 OMIM:112410 IEA O 2009-02-17 HPO:curators OMIM 112410 #112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME HP:0010049 OMIM:112410 IEA O 2009-02-17 HPO:curators OMIM 112410 #112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME HP:0010579 OMIM:112410 IEA HP:0040283 O 2015-07-26 HPO:skoehler OMIM 112430 BRACHYDACTYLY, LONG-THUMB TYPE HP:0000006 OMIM:112430 IEA I 2009-02-17 HPO:curators OMIM 112430 BRACHYDACTYLY, LONG-THUMB TYPE HP:0001367 OMIM:112430 IEA O 2009-02-17 HPO:curators OMIM 112430 BRACHYDACTYLY, LONG-THUMB TYPE HP:0009381 OMIM:112430 TAS O 2012-06-10 HPO:probinson OMIM 112430 BRACHYDACTYLY, LONG-THUMB TYPE HP:0011675 OMIM:112430 TAS O 2012-06-10 HPO:probinson OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0000006 OMIM:112440 IEA I 2009-02-17 HPO:curators OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0001156 OMIM:112440 IEA O 2015-01-27 HPO:skoehler OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0001598 OMIM:112440 IEA O 2012-11-16 HPO:skoehler OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0004689 OMIM:112440 TAS O 2012-05-08 HPO:probinson OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0004689 OMIM:112440 IEA O 2012-06-08 HPO:probinson OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0004704 OMIM:112440 IEA O 2009-02-17 HPO:curators OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0009237 OMIM:112440 TAS O 2012-06-08 HPO:probinson OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0009280 OMIM:112440 TAS O 2012-06-08 HPO:probinson OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0009778 OMIM:112440 TAS O 2012-06-08 HPO:probinson OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0009836 OMIM:112440 IEA O 2009-02-17 HPO:curators OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0010044 OMIM:112440 IEA O 2012-06-08 HPO:probinson OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0010047 OMIM:112440 IEA O 2012-06-08 HPO:probinson OMIM 112440 %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE HP:0011304 OMIM:112440 TAS O 2012-06-08 HPO:probinson OMIM 112450 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY HP:0000006 OMIM:112450 IEA I 2009-02-17 HPO:curators OMIM 112450 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY HP:0001234 OMIM:112450 TAS O 2012-11-16 HPO:skoehler OMIM 112450 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY HP:0008080 OMIM:112450 IEA O 2015-12-30 HPO:skoehler OMIM 112450 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY HP:0009778 OMIM:112450 TAS O 2009-02-17 HPO:skoehler OMIM 112450 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY HP:0009882 OMIM:112450 IEA O 2009-02-17 HPO:curators OMIM 112450 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY HP:0010049 OMIM:112450 IEA O 2009-02-17 HPO:curators OMIM 112450 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY HP:0010109 OMIM:112450 TAS O 2009-02-17 HPO:skoehler OMIM 112450 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY HP:0010743 OMIM:112450 IEA O 2009-02-17 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0000006 OMIM:112500 PCS I 2012-04-24 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0001032 OMIM:112500 PCS O 2012-04-24 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0001156 OMIM:112500 IEA O 2015-01-19 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0001169 OMIM:112500 TAS O 2013-04-07 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0001204 OMIM:112500 PCS O 2012-04-24 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0001425 OMIM:112500 IEA I 2013-04-18 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0004209 OMIM:112500 PCS O 2009-10-20 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0004279 OMIM:112500 TAS O 2012-10-17 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0004322 ISBN-13:978-3437214301 PCS O 2012-04-24 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0005194 ISBN-13:978-3437214301 PCS O 2012-04-24 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0006146 OMIM:112500 TAS O 2013-04-14 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0006165 OMIM:112500 TAS O 2012-10-17 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0006213 OMIM:112500 TAS O 2012-10-17 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0006236 OMIM:112500 TAS O 2013-04-14 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0009279 OMIM:112500 TAS O 2009-10-20 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0009462 OMIM:112500 TAS O 2009-10-20 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0009467 OMIM:112500 TAS O 2009-10-20 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0009638 ISBN-13:978-3437214301 PCS O 2012-04-24 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0009882 OMIM:112500 TAS O 2012-10-17 HPO:skoehler OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0010049 ISBN-13:978-3437214301 PCS O 2012-04-24 HPO:curators OMIM 112500 #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY HP:0010107 ISBN-13:978-3437214301 PCS O 2012-04-24 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0000006 HPO:sdoelken ICE I 2009-02-17 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0001822 OMIM:112600 TAS O 2012-06-08 HPO:probinson OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0004209 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0004220 OMIM:112600 IEA O 2015-01-28 HPO:skoehler OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0004322 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0004691 OMIM:112600 IEA O 2012-11-16 HPO:skoehler OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0008096 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009161 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009182 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009204 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009464 OMIM:112600 IEA O 2012-10-17 HPO:skoehler OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009467 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009514 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009536 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009568 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0009575 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0010055 OMIM:112600 TAS O 2012-06-08 HPO:probinson OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0010109 OMIM:112600 TAS O 2012-06-08 HPO:probinson OMIM 112600 #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY HP:0010194 HPO:sdoelken ICE O 2009-10-02 HPO:curators OMIM 112700 BRACHYDACTYLY, TYPE A3 HP:0000006 OMIM:112700 TAS I 2009-02-17 HPO:probinson OMIM 112700 BRACHYDACTYLY, TYPE A3 HP:0004209 OMIM:112700 TAS O 2009-02-17 HPO:probinson OMIM 112700 BRACHYDACTYLY, TYPE A3 HP:0004220 OMIM:112700 TAS O 2009-02-17 HPO:probinson OMIM 112700 BRACHYDACTYLY, TYPE A3 HP:0005910 OMIM:112700 TAS O 2009-02-17 HPO:probinson OMIM 112700 BRACHYDACTYLY, TYPE A3 HP:0010579 OMIM:112700 TAS O 2009-02-17 HPO:probinson OMIM 112800 BRACHYDACTYLY, TYPE A4 HP:0000006 OMIM:112800 TAS I 2009-02-17 HPO:probinson OMIM 112800 BRACHYDACTYLY, TYPE A4 HP:0004220 OMIM:112800 TAS O 2012-06-09 HPO:probinson OMIM 112800 BRACHYDACTYLY, TYPE A4 HP:0005850 OMIM:112800 TAS O 2009-02-17 HPO:probinson OMIM 112800 BRACHYDACTYLY, TYPE A4 HP:0009577 OMIM:112800 TAS O 2012-06-09 HPO:probinson OMIM 112800 BRACHYDACTYLY, TYPE A4 HP:0100387 OMIM:112800 TAS O 2009-02-17 HPO:probinson OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0000006 OMIM:112910 IEA I 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0000925 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0001500 OMIM:112910 TAS O 2012-06-03 HPO:probinson OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0001831 OMIM:112910 TAS O 2012-06-08 HPO:probinson OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0001837 OMIM:112910 TAS O 2012-06-08 HPO:probinson OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0002984 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0003022 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0003027 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0003038 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0004322 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0005013 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0005736 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0006135 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0008127 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0008368 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0009370 OMIM:112910 TAS O 2009-02-17 HPO:probinson OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0009466 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0009702 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0009803 OMIM:112910 TAS O 2012-06-03 HPO:probinson OMIM 112910 BRACHYDACTYLY, TYPE A6 HP:0009843 OMIM:112910 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0000006 OMIM:113000 IEA I 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0000054 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0000260 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0000270 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0000696 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0001159 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0001629 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0001760 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0001798 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0002937 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0002944 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0002948 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0003026 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0004590 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0005819 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0005831 OMIM:113000 TAS O 2009-02-17 HPO:skoehler OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0009473 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0009835 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0010554 OMIM:113000 TAS HP:0040283 O 2013-06-23 HPO:skoehler OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0011304 OMIM:113000 IEA O 2009-02-17 HPO:curators OMIM 113000 #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB HP:0012385 OMIM:113000 IEA O 2013-10-22 HPO:skoehler OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0000006 OMIM:113100 PCS I 2009-02-17 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0001156 OMIM:113100 IEA O 2014-11-26 HPO:skoehler OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0001762 IEA HP:0040283 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0001772 IEA HP:0040283 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0002750 IEA HP:0040283 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0003067 OMIM:113100 IEA O 2012-10-17 HPO:skoehler OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0004209 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0004322 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0005819 IEA HP:0040281 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0006206 OMIM:113100 TAS O 2012-06-10 HPO:probinson OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009324 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009331 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009349 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009356 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009417 IEA HP:0040281 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009436 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009456 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009461 OMIM:113100 IEA HP:0040281 O 2012-06-09 HPO:probinson OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009463 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009464 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009495 IEA HP:0040281 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009516 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009523 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009527 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009534 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009536 OMIM:113100 IEA HP:0040281 O 2012-06-09 HPO:probinson OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009575 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0009587 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0010034 IEA HP:0040282 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0010259 IEA HP:0040281 O 2009-10-01 HPO:curators OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0010442 OMIM:113100 IEA O 2012-10-17 HPO:skoehler OMIM 113100 #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE HP:0011929 OMIM:113100 TAS O 2012-06-10 HPO:probinson OMIM 113200 BRACHYDACTYLY, TYPE D HP:0000006 OMIM:113200 TAS I 2009-02-17 HPO:curators OMIM 113200 BRACHYDACTYLY, TYPE D HP:0005627 OMIM:113200 TAS O 2009-02-17 HPO:curators OMIM 113200 BRACHYDACTYLY, TYPE D HP:0009642 OMIM:113200 TAS O 2009-02-17 HPO:curators OMIM 113200 BRACHYDACTYLY, TYPE D HP:0010077 OMIM:113200 TAS O 2012-06-10 HPO:curators OMIM 113300 BRACHYDACTYLY, TYPE E HP:0000006 OMIM:113300 IEA I 2009-02-17 HPO:curators OMIM 113300 BRACHYDACTYLY, TYPE E HP:0000311 OMIM:113300 IEA O 2009-02-17 HPO:curators OMIM 113300 BRACHYDACTYLY, TYPE E HP:0000894 OMIM:113300 TAS O 2012-05-27 HPO:probinson OMIM 113300 BRACHYDACTYLY, TYPE E HP:0001156 OMIM:113300 IEA O 2010-06-18 HPO:skoehler OMIM 113300 BRACHYDACTYLY, TYPE E HP:0001571 OMIM:113300 IEA O 2009-02-17 HPO:curators OMIM 113300 BRACHYDACTYLY, TYPE E HP:0005863 OMIM:113300 TAS O 2009-02-17 HPO:probinson OMIM 113300 BRACHYDACTYLY, TYPE E HP:0006587 OMIM:113300 TAS O 2012-05-27 HPO:probinson OMIM 113300 BRACHYDACTYLY, TYPE E HP:0008848 OMIM:113300 IEA O 2009-02-17 HPO:curators OMIM 113300 BRACHYDACTYLY, TYPE E HP:0010049 OMIM:113300 IEA O 2009-02-17 HPO:curators OMIM 113300 BRACHYDACTYLY, TYPE E HP:0010743 OMIM:113300 IEA O 2009-02-17 HPO:curators OMIM 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II HP:0000006 OMIM:113301 IEA I 2009-02-17 HPO:curators OMIM 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II HP:0000311 OMIM:113301 IEA O 2009-02-17 HPO:curators OMIM 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II HP:0001631 OMIM:113301 IEA O 2009-02-17 HPO:curators OMIM 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II HP:0004322 OMIM:113301 IEA O 2009-02-17 HPO:curators OMIM 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II HP:0005863 OMIM:113301 TAS O 2012-07-16 HPO:probinson OMIM 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II HP:0010044 OMIM:113301 IEA O 2009-02-17 HPO:curators OMIM 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II HP:0010743 OMIM:113301 IEA O 2009-02-17 HPO:curators OMIM 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0000006 OMIM:113310 IEA I 2017-07-13 HPO:skoehler OMIM 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0001156 OMIM:113310 IEA O 2015-01-19 HPO:skoehler OMIM 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0001839 OMIM:113310 TAS O 2009-02-17 HPO:probinson OMIM 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0002990 OMIM:113310 TAS O 2009-02-17 HPO:probinson OMIM 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0003828 OMIM:113310 IEA C 2017-07-13 HPO:skoehler OMIM 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0003829 OMIM:113310 IEA C 2017-07-13 HPO:skoehler OMIM 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0006492 OMIM:113310 IEA O 2010-06-18 HPO:skoehler OMIM 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA HP:0009803 OMIM:113310 IEA O 2009-02-17 HPO:probinson OMIM 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA HP:0000486 OMIM:113400 IEA O 2009-02-17 HPO:curators OMIM 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA HP:0000639 OMIM:113400 IEA O 2009-02-17 HPO:curators OMIM 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA HP:0001156 OMIM TAS O 2015-12-30 HPO:skoehler OMIM 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA HP:0001249 OMIM:113400 IEA O 2009-02-17 HPO:curators OMIM 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA HP:0001251 OMIM:113400 IEA O 2009-02-17 HPO:curators OMIM 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA HP:0010049 OMIM:113400 TAS O 2009-02-17 HPO:curators OMIM 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA HP:0010743 OMIM:113400 TAS O 2012-07-19 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0000098 OMIM:113450 PCS O 2012-03-16 HPO:probinson OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0001204 IEA O 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0001761 IEA O 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0001769 IEA O 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0002944 IEA O 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0003180 IEA O 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0006170 IEA O 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0007598 OMIM:113450 IEA O 2012-10-17 HPO:skoehler OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0009371 OMIM:113450 TAS O 2009-02-17 HPO:probinson OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0010034 IEA O 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0010239 IEA O 2009-02-17 HPO:curators OMIM 113450 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME HP:0100490 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0000083 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0000347 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0000369 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0000581 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0000954 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0000965 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0002984 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0003031 OMIM:113470 IEA O 2010-06-20 HPO:skoehler OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0003038 OMIM:113470 TAS O 2009-02-17 HPO:probinson OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0003745 OMIM:113470 IEA I 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0005011 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0005280 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0007759 OMIM:113470 IEA O 2009-02-17 HPO:curators OMIM 113470 113470 BRACHYMESOMELIA-RENAL SYNDROME HP:0012745 OMIM:113470 IEA O 2014-03-24 HPO:skoehler OMIM 113475 113475 BRACHYMETATARSUS IV;;METATARSUS IV, SHORT;;TOE, FOURTH, SHORT HP:0000006 OMIM:113475 IEA I 2009-02-17 HPO:curators OMIM 113475 113475 BRACHYMETATARSUS IV;;METATARSUS IV, SHORT;;TOE, FOURTH, SHORT HP:0004689 OMIM:113475 IEA O 2009-02-17 HPO:curators OMIM 113475 113475 BRACHYMETATARSUS IV;;METATARSUS IV, SHORT;;TOE, FOURTH, SHORT HP:0008093 OMIM:113475 IEA O 2012-11-16 HPO:skoehler OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000154 IEA O 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000252 IEA O 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000307 IEA O 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0000445 IEA O 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0001798 OMIM:113477 PCS O 2012-03-03 HPO:probinson OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0001999 IEA O 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0002164 OMIM:113477 PCS O 2009-02-17 HPO:probinson OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004220 IEA O 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004227 IEA O 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0004322 IEA O 2009-02-17 HPO:curators OMIM 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME HP:0010959 IEA O 2009-02-17 HPO:curators OMIM 113480 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME HP:0000006 OMIM:113480 IEA I 2009-02-17 HPO:curators OMIM 113480 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME HP:0000044 OMIM:113480 IEA O 2009-02-17 HPO:curators OMIM 113480 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME HP:0000219 OMIM:113480 IEA O 2009-02-17 HPO:curators OMIM 113480 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME HP:0000319 OMIM:113480 IEA O 2009-02-17 HPO:curators OMIM 113480 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME HP:0000458 OMIM:113480 IEA O 2009-02-17 HPO:curators OMIM 113480 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME HP:0000506 OMIM:113480 IEA O 2009-02-17 HPO:curators OMIM 113480 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME HP:0005280 OMIM:113480 IEA O 2009-02-17 HPO:curators OMIM 113480 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME HP:0006118 OMIM:113480 IEA O 2015-12-30 HPO:skoehler OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0000006 OMIM:113500 IEA I 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0000470 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0000540 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0000926 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0001552 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0002176 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0002650 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0002808 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0003411 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0008922 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0009466 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0030084 OMIM:113500 IEA O 2014-09-21 HPO:skoehler OMIM 113500 #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA HP:0100864 OMIM:113500 IEA O 2009-02-17 HPO:curators OMIM 113600 BRANCHIAL CLEFT ANOMALIESBRANCHIAL CYSTS, INCLUDED HP:0000006 OMIM:113600 IEA I 2009-02-17 HPO:curators OMIM 113600 BRANCHIAL CLEFT ANOMALIESBRANCHIAL CYSTS, INCLUDED HP:0000464 OMIM:113600 IEA O 2009-02-17 HPO:curators OMIM 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA HP:0000006 OMIM:113610 TAS I 2009-02-17 HPO:probinson OMIM 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA HP:0000639 OMIM:113610 TAS O 2009-02-17 HPO:probinson OMIM 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA HP:0002078 OMIM:113610 TAS O 2009-02-17 HPO:probinson OMIM 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA HP:0002120 OMIM:113610 TAS O 2013-12-18 HPO:probinson OMIM 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA HP:0002313 OMIM:113610 TAS O 2009-02-17 HPO:probinson OMIM 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA HP:0003581 OMIM:113610 TAS C 2013-12-18 HPO:probinson OMIM 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA HP:0006827 OMIM:113610 TAS O 2013-12-18 HPO:probinson OMIM 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA HP:0010530 OMIM:113610 TAS O 2013-12-18 HPO:probinson OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000006 OMIM:113620 TAS I 2009-02-17 HPO:probinson OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000028 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000047 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000104 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000107 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000164 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000175 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000196 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000204 OMIM:113620 IEA O 2010-06-20 HPO:skoehler OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000252 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000268 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000272 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000316 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000347 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000350 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000358 OMIM:113620 TAS O 2015-03-21 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000369 OMIM:113620 IEA O 2015-04-05 HPO:skoehler OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000396 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000405 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000407 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000420 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000455 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000470 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000480 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000486 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000506 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000508 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000518 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000528 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000545 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000568 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000579 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000582 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000612 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000639 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000954 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0000987 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0001057 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0001177 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0001250 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0001256 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0001511 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0001611 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0001804 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002020 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002021 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002162 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002211 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002216 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002335 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002558 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002808 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0002987 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0003307 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0004209 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0004334 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0004464 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0004467 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0004785 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0005217 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0005280 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0005473 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0006610 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0008551 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0008559 OMIM:113620 TAS O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0008606 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0008897 OMIM:113620 IEA HP:0040284 O 2012-11-18 HPO:skoehler OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0009623 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0009778 OMIM:113620 IEA O 2009-02-17 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0009794 OMIM:113620 IEA O 2012-10-17 HPO:skoehler OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0010517 OMIM:113620 TAS O 2015-03-21 HPO:curators OMIM 113620 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME HP:0010566 OMIM:113620 IEA O 2010-06-20 HPO:skoehler OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000006 OMIM:113650 IEA I 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000076 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000104 OMIM:113650 TAS O 2013-04-13 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000110 OMIM:113650 TAS O 2013-04-13 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000113 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000175 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000193 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000218 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000275 OMIM:113650 TAS O 2012-05-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000276 OMIM:113650 TAS O 2012-05-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000376 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000378 OMIM:113650 TAS HP:0040284 O 2012-04-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000384 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000402 OMIM:113650 TAS HP:0040284 O 2012-04-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000410 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000410 OMIM:113650 TAS HP:0040284 O 2012-04-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000691 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0000799 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0001374 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0001425 OMIM:113650 IEA I 2012-11-16 HPO:skoehler OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0002060 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0002566 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0003828 OMIM:113650 IEA C 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0003829 OMIM:113650 IEA C 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0004458 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0004467 OMIM:113650 TAS HP:0040284 O 2012-04-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0004712 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0004742 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0007678 OMIM:113650 TAS HP:0040284 O 2012-04-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0007925 OMIM:113650 TAS HP:0040284 O 2012-04-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0008551 OMIM:113650 TAS HP:0040284 O 2012-04-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0008586 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0009795 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0009796 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0009797 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0009798 OMIM:113650 IEA O 2009-02-17 HPO:curators OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0010628 OMIM:113650 TAS HP:0040284 O 2012-04-01 HPO:probinson OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0011094 OMIM:113650 IEA O 2012-10-17 HPO:skoehler OMIM 113650 BRANCHIOOTORENAL SYNDROME 1 HP:0100274 OMIM:113650 IEA O 2012-10-17 HPO:skoehler OMIM 113670 BREAST, UNILATERAL GIANT HP:0000765 OMIM:113670 IEA O 2009-02-17 HPO:curators OMIM 113670 BREAST, UNILATERAL GIANT HP:0001470 OMIM:113670 IEA I 2009-02-17 HPO:curators OMIM 113700 %113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1;;AMASTIA;;ATHELIA;;AMAZIA HP:0000006 OMIM:113700 IEA I 2012-11-16 HPO:skoehler OMIM 113700 %113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1;;AMASTIA;;ATHELIA;;AMAZIA HP:0000453 OMIM:113700 IEA HP:0040283 O 2014-09-21 HPO:skoehler OMIM 113700 %113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1;;AMASTIA;;ATHELIA;;AMAZIA HP:0001417 OMIM:113700 IEA I 2012-11-17 HPO:skoehler OMIM 113700 %113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1;;AMASTIA;;ATHELIA;;AMAZIA HP:0002561 OMIM:113700 IEA O 2015-01-04 HPO:skoehler OMIM 113700 %113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1;;AMASTIA;;ATHELIA;;AMAZIA HP:0010311 IEA O 2009-02-17 HPO:curators OMIM 113750 #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4;;SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKINALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED; OCA6, INCLUDED HP:0000006 OMIM:113750 IEA I 2009-02-17 HPO:curators OMIM 113750 #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4;;SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKINALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED; OCA6, INCLUDED HP:0000007 OMIM:113750 IEA I 2014-01-28 HPO:skoehler OMIM 113750 #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4;;SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKINALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED; OCA6, INCLUDED HP:0000505 OMIM:113750 IEA O 2014-01-28 HPO:skoehler OMIM 113750 #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4;;SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKINALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED; OCA6, INCLUDED MILD HP:0000613 OMIM:113750 IEA O 2014-01-28 HPO:skoehler OMIM 113750 #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4;;SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKINALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED; OCA6, INCLUDED MILD HP:0000639 OMIM:113750 IEA O 2014-01-28 HPO:skoehler OMIM 113750 #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4;;SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKINALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED; OCA6, INCLUDED HP:0001595 OMIM:113750 IEA O 2009-02-17 HPO:curators OMIM 113750 #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4;;SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKINALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED; OCA6, INCLUDED HP:0007663 OMIM:113750 IEA O 2015-07-26 HPO:skoehler OMIM 113800 EPIDERMOLYTIC HYPERKERATOSIS HP:0000006 OMIM:113800 IEA I 2009-02-17 HPO:curators OMIM 113800 EPIDERMOLYTIC HYPERKERATOSIS HP:0000007 OMIM:113800 IEA I 2017-07-13 HPO:skoehler OMIM 113800 EPIDERMOLYTIC HYPERKERATOSIS HP:0000972 OMIM:113800 IEA O 2013-05-03 HPO:skoehler OMIM 113800 EPIDERMOLYTIC HYPERKERATOSIS HP:0001019 OMIM:113800 TAS O 2009-02-17 HPO:probinson OMIM 113800 EPIDERMOLYTIC HYPERKERATOSIS HP:0007475 OMIM:113800 IEA O 2017-07-13 HPO:skoehler OMIM 113800 EPIDERMOLYTIC HYPERKERATOSIS HP:0008066 OMIM:113800 TAS O 2013-08-12 HPO:probinson OMIM 113800 EPIDERMOLYTIC HYPERKERATOSIS HP:0025092 OMIM:113800 IEA O 2017-07-13 HPO:skoehler OMIM 113800 EPIDERMOLYTIC HYPERKERATOSIS HP:0040189 OMIM:113800 IEA O 2015-10-05 HPO:skoehler OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0000006 OMIM:113900 PCS I 2012-04-11 HPO:probinson OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0001279 OMIM:113900 PCS O 2012-04-11 HPO:probinson OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0001425 OMIM:113900 IEA I 2012-11-16 HPO:skoehler OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0001645 OMIM:113900 PCS O 2012-04-11 HPO:probinson OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0001699 OMIM:113900 IEA M 2012-10-17 HPO:skoehler OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0002094 OMIM:113900 IEA O 2012-10-17 HPO:skoehler OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0005170 OMIM:113900 PCS O 2012-04-11 HPO:probinson OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0005172 OMIM:113900 PCS O 2012-04-11 HPO:probinson OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0011711 OMIM:113900 PCS O 2012-04-11 HPO:probinson OMIM 113900 #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED HP:0011712 OMIM:113900 PCS O 2012-04-11 HPO:probinson OMIM 113950 %113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT HP:0000006 OMIM:113950 IEA I 2009-02-17 HPO:curators OMIM 113950 %113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT HP:0011712 OMIM:113950 IEA O 2012-11-16 HPO:skoehler OMIM 113970 BURKITT LYMPHOMA; BL HP:0003745 TAS I 2015-12-30 HPO:skoehler OMIM 113970 BURKITT LYMPHOMA; BL HP:0030080 OMIM:113970 TAS O 2015-01-21 HPO:skoehler OMIM 114000 CAFFEY DISEASE HP:0000006 OMIM:114000 TAS I 2009-02-17 HPO:probinson OMIM 114000 CAFFEY DISEASE HP:0001945 OMIM:114000 TAS O 2009-02-17 HPO:probinson OMIM 114000 CAFFEY DISEASE HP:0002982 OMIM:114000 TAS O 2012-07-16 HPO:probinson OMIM 114000 CAFFEY DISEASE HP:0004490 OMIM:114000 TAS HP:0003593 O 2012-07-30 HPO:probinson OMIM 114000 CAFFEY DISEASE HP:0005731 OMIM:114000 TAS O 2012-08-03 HPO:probinson OMIM 114000 CAFFEY DISEASE HP:0006465 OMIM:114000 TAS O 2009-02-17 HPO:probinson OMIM 114030 114030 CAFE-AU-LAIT SPOTS, MULTIPLE HP:0000006 PMID:8825931 PCS I 2009-02-17 HPO:probinson OMIM 114030 114030 CAFE-AU-LAIT SPOTS, MULTIPLE HP:0007565 PMID:8825931 PCS HP:0040284 O 2009-02-17 HPO:probinson OMIM 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL HP:0000006 OMIM:114065 IEA I 2009-02-17 HPO:curators OMIM 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL HP:0001650 OMIM:114065 IEA O 2009-02-17 HPO:curators OMIM 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL HP:0001659 OMIM:114065 IEA O 2013-01-21 HPO:skoehler OMIM 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL HP:0004380 PMID:8213448 PCS O 2017-09-21 HPO:probinson OMIM 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL HP:0010702 OMIM:114065 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0000006 OMIM:114100 IEA I 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0000007 OMIM:114100 IEA I 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0000252 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0000268 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0001250 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0001257 OMIM:114100 TAS O 2009-02-17 HPO:probinson OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0001260 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0001263 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0002071 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0002135 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0002445 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0002461 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0002504 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0003121 OMIM:114100 TAS O 2012-05-27 HPO:probinson OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0003593 OMIM:114100 IEA C 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0004322 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0004325 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0006887 OMIM:114100 IEA O 2009-02-17 HPO:curators OMIM 114100 %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET HP:0010864 OMIM:114100 IEA O 2012-10-17 HPO:skoehler OMIM 114140 CALLOSITIES, HEREDITARY PAINFUL HP:0000006 OMIM:114140 IEA I 2009-02-17 HPO:curators OMIM 114140 CALLOSITIES, HEREDITARY PAINFUL HP:0000951 OMIM:114140 IEA O 2009-02-17 HPO:curators OMIM 114150 CAMPTOBRACHYDACTYLY HP:0000006 OMIM:114150 IEA I 2009-02-17 HPO:curators OMIM 114150 CAMPTOBRACHYDACTYLY HP:0000020 OMIM:114150 IEA O 2009-02-17 HPO:curators OMIM 114150 CAMPTOBRACHYDACTYLY HP:0001153 OMIM:114150 IEA O 2009-02-17 HPO:curators OMIM 114150 CAMPTOBRACHYDACTYLY HP:0001156 OMIM:114150 TAS O 2012-06-09 HPO:probinson OMIM 114150 CAMPTOBRACHYDACTYLY HP:0001159 OMIM:114150 IEA O 2009-02-17 HPO:curators OMIM 114150 CAMPTOBRACHYDACTYLY HP:0001161 OMIM:114150 IEA O 2009-02-17 HPO:curators OMIM 114150 CAMPTOBRACHYDACTYLY HP:0001831 OMIM:114150 TAS O 2012-06-09 HPO:probinson OMIM 114150 CAMPTOBRACHYDACTYLY HP:0005879 OMIM:114150 IEA O 2009-02-17 HPO:curators OMIM 114200 CAMPTODACTYLYSTREBLODACTYLY, INCLUDED HP:0000006 OMIM:114200 IEA I 2009-02-17 HPO:curators OMIM 114200 CAMPTODACTYLYSTREBLODACTYLY, INCLUDED HP:0003166 OMIM:114200 TAS O 2013-08-10 HPO:probinson OMIM 114200 CAMPTODACTYLYSTREBLODACTYLY, INCLUDED HP:0004976 OMIM:114200 IEA O 2013-08-10 HPO:curators OMIM 114200 CAMPTODACTYLYSTREBLODACTYLY, INCLUDED HP:0100490 OMIM:114200 IEA O 2009-02-17 HPO:curators OMIM 114200 CAMPTODACTYLYSTREBLODACTYLY, INCLUDED HP:0100490 OMIM:114200 TAS O 2013-08-10 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000006 OMIM:114290 IEA I 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000126 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000175 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000238 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000256 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000260 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000274 OMIM:114290 IEA O 2010-06-20 HPO:skoehler OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000316 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000347 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000348 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000365 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000369 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000457 OMIM:114290 TAS O 2009-02-17 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000581 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000878 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000882 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0000883 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0001290 OMIM:114290 IEA O 2017-07-13 HPO:skoehler OMIM 114290 CAMPOMELIC DYSPLASIA HP:0001508 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0001561 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0001627 OMIM:114290 IEA O 2015-12-30 HPO:skoehler OMIM 114290 CAMPOMELIC DYSPLASIA HP:0001762 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0002098 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0002104 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0002751 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0002786 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0002827 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0002866 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0002980 OMIM:114290 TAS O 2015-03-01 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0003038 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0005035 OMIM:114290 IEA O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0005257 OMIM:114290 TAS O 2009-02-17 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0005280 OMIM:114290 IEA O 2015-04-05 HPO:skoehler OMIM 114290 CAMPOMELIC DYSPLASIA HP:0006390 OMIM:114290 TAS O 2009-02-17 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0006628 OMIM:114290 TAS O 2009-02-17 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0008434 OMIM:114290 TAS O 2009-02-17 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0008477 OMIM:114290 TAS O 2009-02-17 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0008873 OMIM:114290 IEA HP:0003577 O 2009-02-17 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0008921 OMIM:114290 TAS O 2012-11-16 HPO:skoehler OMIM 114290 CAMPOMELIC DYSPLASIA HP:0011910 OMIM:114290 IEA O 2012-06-09 HPO:curators OMIM 114290 CAMPOMELIC DYSPLASIA HP:0012245 OMIM:114290 TAS O 2013-04-02 HPO:probinson OMIM 114290 CAMPOMELIC DYSPLASIA HP:0012745 OMIM:114290 TAS O 2014-03-24 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000006 OMIM:114300 IEA I 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000028 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000176 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000193 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000218 OMIM:114300 IEA O 2014-08-03 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000286 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 MILD HP:0000324 OMIM:114300 IEA O 2014-08-03 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000347 OMIM:114300 IEA O 2014-08-03 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000470 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000508 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000602 OMIM:114300 IEA HP:0040283 O 2014-08-03 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000767 OMIM:114300 IEA O 2014-08-03 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0000954 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0001193 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0001374 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0001547 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0001762 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0001836 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0001845 OMIM:114300 IEA O 2014-08-03 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0002751 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0002804 OMIM:114300 IEA O 2015-01-19 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0002938 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0002944 OMIM:114300 IEA O 2014-08-03 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0003184 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0003199 TAS O 2015-12-30 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0004322 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0005684 OMIM:114300 IEA O 2015-01-21 HPO:skoehler OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0006380 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0009803 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0010554 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0100490 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 HP:0200021 OMIM:114300 IEA O 2009-02-17 HPO:curators OMIM 114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE HP:0000006 OMIM:114450 IEA I 2009-02-17 HPO:curators OMIM 114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE HP:0002664 OMIM:114450 IEA O 2009-02-17 HPO:curators OMIM 114480 #114480 BREAST CANCER;;BREAST CANCER, FAMILIALBREAST CANCER, FAMILIAL MALE, INCLUDED HP:0000006 OMIM:114480 IEA I 2009-02-17 HPO:curators OMIM 114480 #114480 BREAST CANCER;;BREAST CANCER, FAMILIALBREAST CANCER, FAMILIAL MALE, INCLUDED HP:0001425 OMIM:114480 IEA I 2012-10-17 HPO:skoehler OMIM 114480 #114480 BREAST CANCER;;BREAST CANCER, FAMILIALBREAST CANCER, FAMILIAL MALE, INCLUDED HP:0003002 OMIM:114480 IEA O 2009-02-17 HPO:curators OMIM 114500 COLORECTAL CANCER HP:0002891 OMIM:114500 TAS O 2009-02-17 HPO:curators OMIM 114500 COLORECTAL CANCER HP:0005584 OMIM:114500 TAS O 2010-06-20 HPO:skoehler OMIM 114500 COLORECTAL CANCER HP:0006716 OMIM:114500 TAS O 2012-07-18 HPO:curators OMIM 114500 COLORECTAL CANCER HP:0006740 OMIM:114500 TAS O 2009-02-17 HPO:curators OMIM 114500 COLORECTAL CANCER HP:0006753 OMIM:114500 TAS O 2012-07-18 HPO:curators OMIM 114550 HEPATOCELLULAR CARCINOMA HP:0000006 OMIM:114550 TAS I 2009-02-17 HPO:probinson OMIM 114550 HEPATOCELLULAR CARCINOMA HP:0001402 OMIM:114550 TAS O 2009-02-17 HPO:probinson OMIM 114550 HEPATOCELLULAR CARCINOMA HP:0001413 OMIM:114550 TAS O 2009-02-17 HPO:probinson OMIM 114550 HEPATOCELLULAR CARCINOMA HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 114550 HEPATOCELLULAR CARCINOMA HP:0001428 OMIM:114550 TAS I 2009-02-17 HPO:probinson OMIM 114550 HEPATOCELLULAR CARCINOMA HP:0006572 OMIM:114550 TAS O 2009-02-17 HPO:probinson OMIM 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT HP:0000006 OMIM:114580 IEA I 2009-02-17 HPO:curators OMIM 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT HP:0000818 OMIM:114580 IEA O 2009-02-17 HPO:curators OMIM 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT HP:0001596 OMIM:114580 IEA O 2009-02-17 HPO:curators OMIM 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT HP:0002728 OMIM:114580 IEA O 2009-02-17 HPO:curators OMIM 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT HP:0002965 OMIM:114580 IEA O 2009-02-17 HPO:curators OMIM 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT HP:0004429 OMIM:114580 IEA O 2009-02-17 HPO:curators OMIM 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT HP:0006480 OMIM:114580 TAS O 2009-02-17 HPO:skoehler OMIM 114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT HP:0000006 OMIM:114600 IEA I 2009-02-17 HPO:curators OMIM 114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT HP:0000164 OMIM:114600 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000256 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000280 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000316 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000343 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000369 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000463 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000470 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000520 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000540 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000666 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000689 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000767 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0000885 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0001256 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0001382 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0001640 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0002007 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0002680 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0002750 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0002967 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0003196 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0003745 OMIM:114620 IEA I 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0004322 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0005280 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0007517 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0008479 OMIM:114620 IEA O 2009-02-17 HPO:curators OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0008839 OMIM:114620 IEA O 2015-06-22 HPO:skoehler OMIM 114620 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME HP:0011220 OMIM:114620 IEA O 2012-10-17 HPO:skoehler OMIM 114650 CAR FACTOR DEFICIENCY HP:0000006 OMIM:114650 IEA I 2009-02-17 HPO:curators OMIM 114650 CAR FACTOR DEFICIENCY HP:0001892 OMIM:114650 TAS O 2009-02-17 HPO:probinson OMIM 114700 CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH HP:0000164 OMIM:114700 IEA O 2009-02-17 HPO:curators OMIM 114835 CARBOXYLESTERASE 1 HP:0000006 OMIM:114835 IEA I 2009-02-17 HPO:curators OMIM 114835 CARBOXYLESTERASE 1 HP:0001370 OMIM:114835 IEA O 2010-06-20 HPO:skoehler OMIM 114835 CARBOXYLESTERASE 1 HP:0001939 OMIM:114835 IEA O 2009-02-17 HPO:curators OMIM 114835 CARBOXYLESTERASE 1 HP:0002665 OMIM:114835 IEA O 2010-06-20 HPO:skoehler OMIM 114835 CARBOXYLESTERASE 1 HP:0005550 OMIM:114835 IEA O 2010-06-20 HPO:skoehler OMIM 114900 CARCINOID TUMORS, INTESTINAL HP:0000006 OMIM:114900 IEA I 2009-02-17 HPO:curators OMIM 114900 CARCINOID TUMORS, INTESTINAL HP:0006723 OMIM:114900 IEA O 2009-02-17 HPO:curators OMIM 115000 CARDIAC ARRHYTHMIA HP:0000006 OMIM:115000 IEA I 2009-02-17 HPO:curators OMIM 115000 CARDIAC ARRHYTHMIA HP:0000707 OMIM:115000 IEA O 2009-02-17 HPO:curators OMIM 115000 CARDIAC ARRHYTHMIA HP:0001699 OMIM:115000 IEA M 2009-02-17 HPO:curators OMIM 115000 CARDIAC ARRHYTHMIA HP:0006696 OMIM:115000 IEA O 2009-02-17 HPO:curators OMIM 115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0000006 OMIM:115080 TAS I 2009-02-17 HPO:probinson OMIM 115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0001279 OMIM:115080 TAS O 2009-02-17 HPO:probinson OMIM 115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0001699 OMIM:115080 TAS M 2009-02-17 HPO:probinson OMIM 115080 CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED HP:0011675 OMIM:115080 TAS O 2009-02-17 HPO:probinson OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000006 OMIM:115150 ICE I 2009-10-09 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000126 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000176 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000194 OMIM:115150 IEA O 2013-07-30 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000218 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000238 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000268 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000280 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000286 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000316 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000341 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000347 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000358 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000365 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000369 OMIM:115150 IEA O 2013-07-30 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000414 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000463 OMIM:115150 TAS O 2013-04-09 HPO:probinson OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000486 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000494 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000508 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000520 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000529 OMIM:115150 IEA O 2013-04-18 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000545 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000561 OMIM:115150 IEA O 2012-03-02 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000639 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000657 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000689 OMIM:115150 IEA O 2013-07-30 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000767 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000768 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000938 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0000962 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001003 OMIM:115150 TAS O 2012-10-17 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001047 OMIM:115150 TAS O 2009-02-17 HPO:probinson OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001048 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001093 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001187 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001249 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001250 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001276 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001290 OMIM:115150 IEA O 2017-07-13 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001508 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001561 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001622 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001631 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001639 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001642 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001744 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002002 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002013 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002019 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002020 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002120 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002212 OMIM:115150 TAS O 2012-11-16 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002217 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002223 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0002750 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0003196 OMIM:115150 TAS O 2013-04-09 HPO:probinson OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0003477 OMIM:115150 TAS HP:0040283 O 2012-11-18 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0003577 OMIM:115150 ICE C 2009-10-09 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0004209 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0004322 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0004482 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0005280 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0006114 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0007333 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0007370 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0008064 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0008070 OMIM:115150 TAS O 2013-04-09 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0008113 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0008872 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0009891 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0009908 OMIM:115150 TAS O 2012-11-16 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0010807 OMIM:115150 IEA O 2013-07-30 HPO:skoehler OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0011220 OMIM:115150 IEA O 2009-02-17 HPO:curators OMIM 115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0100703 OMIM:115150 IEA O 2013-07-30 HPO:skoehler OMIM 115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 HP:0000006 OMIM:115195 IEA I 2009-02-17 HPO:curators OMIM 115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 HP:0001639 OMIM:115195 IEA O 2009-02-17 HPO:curators OMIM 115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 HP:0000006 OMIM:115196 IEA I 2009-02-17 HPO:curators OMIM 115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 HP:0001639 OMIM:115196 IEA O 2009-02-17 HPO:curators OMIM 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 HP:0000006 OMIM:115197 IEA I 2009-02-17 HPO:curators OMIM 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 HP:0001639 OMIM:115197 IEA O 2009-02-17 HPO:curators OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0000006 OMIM:115200 IEA I 2012-10-17 HPO:skoehler OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0001635 OMIM:115200 PCS O 2012-04-11 HPO:probinson OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0001644 OMIM:115200 PCS O 2012-04-11 HPO:probinson OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0001644 OMIM:115200 IEA O 2013-06-11 HPO:skoehler OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0001698 OMIM:115200 PCS O 2012-04-11 HPO:probinson OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0004308 IEA O 2009-02-17 HPO:curators OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0004308 OMIM:115200 PCS O 2012-04-11 HPO:probinson OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0004749 OMIM:115200 PCS O 2012-04-11 HPO:probinson OMIM 115200 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE HP:0005110 OMIM:115200 PCS O 2012-04-11 HPO:probinson OMIM 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0000006 OMIM:115210 IEA I 2009-02-17 HPO:curators OMIM 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0001723 OMIM:115210 IEA O 2009-02-17 HPO:curators OMIM 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 HP:0002119 OMIM:115210 IEA O 2010-06-20 HPO:skoehler OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0000006 OMIM:115250 IEA I 2009-02-17 HPO:curators OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0000407 OMIM:115250 IEA O 2009-02-17 HPO:curators OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0001089 OMIM:115250 IEA O 2009-02-17 HPO:curators OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0001635 OMIM:115250 IEA O 2010-06-20 HPO:skoehler OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0002633 OMIM:115250 IEA O 2010-06-20 HPO:skoehler OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0005110 OMIM:115250 IEA O 2009-02-17 HPO:curators OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0005180 OMIM:115250 IEA O 2009-02-17 HPO:curators OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0007534 OMIM:115250 IEA O 2009-02-17 HPO:curators OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0008720 OMIM:115250 IEA O 2009-02-17 HPO:curators OMIM 115250 115250 COLLAGENOMA, FAMILIAL CUTANEOUS HP:0011663 OMIM:115250 IEA O 2013-06-11 HPO:skoehler OMIM 115300 CAROTENEMIA, FAMILIAL HP:0000006 OMIM:115300 TAS I 2009-02-17 HPO:probinson OMIM 115300 CAROTENEMIA, FAMILIAL HP:0000951 OMIM:115300 IEA O 2009-02-17 HPO:curators OMIM 115300 CAROTENEMIA, FAMILIAL HP:0004905 OMIM:115300 TAS O 2015-02-01 HPO:probinson OMIM 115310 PARAGANGLIOMAS 4 HP:0000006 OMIM:115310 IEA I 2008-01-01 HPO:curators OMIM 115310 PARAGANGLIOMAS 4 HP:0000740 OMIM:115310 IEA O 2008-01-01 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0000975 OMIM:115310 TAS O 2008-01-01 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0001649 OMIM:115310 TAS O 2008-01-01 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0001962 OMIM:115310 TAS O 2008-01-01 HPO:curators OMIM 115310 PARAGANGLIOMAS 4 HP:0002331 OMIM:115310 IEA O 2008-01-01 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0002640 OMIM:115310 IEA O 2008-01-01 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0003001 OMIM:115310 IEA O 2008-01-01 HPO:curators OMIM 115310 PARAGANGLIOMAS 4 HP:0003006 OMIM:115310 IEA HP:0040283 O 2008-01-01 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0003581 OMIM:115310 IEA C 2008-01-01 HPO:curators OMIM 115310 PARAGANGLIOMAS 4 HP:0003829 OMIM:115310 IEA C 2013-04-02 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0005584 OMIM:115310 IEA O 2008-01-01 HPO:curators OMIM 115310 PARAGANGLIOMAS 4 HP:0006737 OMIM:115310 IEA O 2008-01-01 HPO:curators OMIM 115310 PARAGANGLIOMAS 4 HP:0006748 OMIM:115310 IEA O 2008-01-01 HPO:curators OMIM 115310 PARAGANGLIOMAS 4 HP:0006824 OMIM:115310 TAS O 2016-07-19 HPO:probinson OMIM 115310 PARAGANGLIOMAS 4 HP:0008629 OMIM:115310 TAS O 2008-01-01 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0011976 OMIM:115310 TAS O 2016-07-22 HPO:probinson OMIM 115310 PARAGANGLIOMAS 4 HP:0030074 OMIM:115310 TAS O 2015-01-20 HPO:skoehler OMIM 115310 PARAGANGLIOMAS 4 HP:0100723 OMIM:115310 IEA HP:0040283 O 2008-01-01 HPO:skoehler OMIM 115400 CARPAL DISPLACEMENT HP:0000006 OMIM:115400 IEA I 2009-02-17 HPO:curators OMIM 115400 CARPAL DISPLACEMENT HP:0000924 OMIM:115400 IEA O 2009-02-17 HPO:curators OMIM 115430 CARPAL TUNNEL SYNDROME HP:0000006 OMIM:115430 IEA I 2009-02-17 HPO:curators OMIM 115430 CARPAL TUNNEL SYNDROME HP:0008326 OMIM:115430 IEA O 2009-02-17 HPO:curators OMIM 115430 CARPAL TUNNEL SYNDROME HP:0009830 OMIM:115430 IEA O 2010-06-20 HPO:skoehler OMIM 115430 CARPAL TUNNEL SYNDROME HP:0012185 OMIM:115430 TAS O 2013-02-25 HPO:skoehler OMIM 115430 CARPAL TUNNEL SYNDROME HP:0012276 OMIM:115430 TAS O 2013-04-07 HPO:probinson OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000006 OMIM:115470 IEA I #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000104 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000175 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000316 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000347 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000369 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000384 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000402 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000494 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000567 OMIM:115470 TAS O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2015-07-19 HPO:probinson OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000568 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0000612 OMIM:115470 TAS O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:probinson OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0001256 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2010-06-20 HPO:skoehler OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0001507 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0001627 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2015-12-30 HPO:skoehler OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0002023 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2010-06-20 HPO:skoehler OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0002566 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2010-06-20 HPO:skoehler OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0003974 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0004467 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0005160 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115470 #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11) HP:0005912 OMIM:115470 IEA O #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(Q11) 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0000006 OMIM:115645 IEA I 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0000191 OMIM:115645 IEA O 2010-06-20 HPO:skoehler OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0000286 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0000358 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0000463 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0000508 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0000581 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0000582 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0001115 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0002212 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0003196 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0004322 OMIM:115645 IEA O 2009-02-17 HPO:curators OMIM 115645 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION HP:0012745 OMIM:115645 IEA O 2014-03-24 HPO:skoehler OMIM 115650 CATARACT, ANTERIOR POLAR, 1 HP:0000006 OMIM:115650 TAS I 2009-02-17 HPO:curators OMIM 115650 CATARACT, ANTERIOR POLAR, 1 HP:0001134 OMIM:115650 TAS O 2009-02-17 HPO:curators OMIM 115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1 HP:0000006 OMIM:115660 IEA I 2009-02-17 HPO:curators OMIM 115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1 HP:0000519 OMIM:115660 TAS O 2015-01-21 HPO:skoehler OMIM 115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1 HP:0000572 OMIM:115660 IEA O 2010-06-20 HPO:skoehler OMIM 115665 %115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV HP:0000006 OMIM:115665 PCS I 2009-02-17 HPO:curators OMIM 115665 %115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV HP:0000519 OMIM:115665 IEA O 2012-10-17 HPO:skoehler OMIM 115665 %115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV HP:0000529 pmid:7607651 PCS O 2009-02-17 HPO:curators OMIM 115665 %115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV HP:0100018 pmid:7607651 PCS HP:0003577 HP:0040284 O 2012-07-31 HPO:curators OMIM 115700 CATARACT, CRYSTALLINE ACULEIFORM HP:0000006 OMIM:115700 IEA I 2009-02-17 HPO:curators OMIM 115700 CATARACT, CRYSTALLINE ACULEIFORM HP:0000519 OMIM:115700 IEA O 2009-02-17 HPO:curators OMIM 115800 CATARACT, CRYSTALLINE CORALLIFORM HP:0000006 OMIM:115800 IEA I 2009-02-17 HPO:curators OMIM 115800 CATARACT, CRYSTALLINE CORALLIFORM HP:0000518 OMIM:115800 IEA O 2010-06-20 HPO:skoehler OMIM 115900 #115900 CATARACT 42; CTRCT42 HP:0000006 OMIM:115900 IEA I 2009-02-17 HPO:curators OMIM 115900 #115900 CATARACT 42; CTRCT42 HP:0000501 OMIM:115900 IEA HP:0040283 O 2014-08-24 HPO:skoehler OMIM 115900 #115900 CATARACT 42; CTRCT42 HP:0000519 OMIM:115900 IEA O 2010-06-18 HPO:skoehler OMIM 115900 #115900 CATARACT 42; CTRCT42 HP:0000545 OMIM:115900 IEA HP:0040283 O 2014-08-24 HPO:skoehler OMIM 116100 116100 CATARACT, MEMBRANOUS HP:0000006 OMIM:116100 IEA I 2009-02-17 HPO:curators OMIM 116100 116100 CATARACT, MEMBRANOUS HP:0010922 OMIM:116100 IEA O 2012-10-17 HPO:skoehler OMIM 116200 CATARACT 1, MULTIPLE TYPES HP:0000006 OMIM:116200 TAS I 2009-02-17 HPO:probinson OMIM 116200 CATARACT 1, MULTIPLE TYPES HP:0000482 OMIM:116200 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 116200 CATARACT 1, MULTIPLE TYPES HP:0000519 OMIM:116200 TAS O 2009-02-17 HPO:probinson OMIM 116200 CATARACT 1, MULTIPLE TYPES HP:0007787 OMIM:116200 IEA O 2017-07-13 HPO:skoehler OMIM 116200 CATARACT 1, MULTIPLE TYPES HP:0010693 OMIM:116200 TAS O 2014-05-22 HPO:probinson OMIM 116200 CATARACT 1, MULTIPLE TYPES HP:0100018 OMIM:116200 TAS O 2010-06-18 HPO:skoehler OMIM 116300 CATARACT 30, MULTIPLE TYPES HP:0000006 OMIM:116300 IEA I 2009-02-17 HPO:curators OMIM 116300 CATARACT 30, MULTIPLE TYPES HP:0001115 OMIM:116300 IEA O 2017-07-13 HPO:skoehler OMIM 116300 CATARACT 30, MULTIPLE TYPES HP:0003577 OMIM:116300 IEA C 2017-07-13 HPO:skoehler OMIM 116300 CATARACT 30, MULTIPLE TYPES HP:0007657 OMIM:116300 IEA O 2009-02-17 HPO:curators OMIM 116300 CATARACT 30, MULTIPLE TYPES HP:0010693 OMIM:116300 IEA O 2017-07-13 HPO:skoehler OMIM 116400 CATARACT, NUCLEAR TOTAL HP:0000006 OMIM:116400 IEA I 2009-02-17 HPO:curators OMIM 116400 CATARACT, NUCLEAR TOTAL HP:0000519 OMIM:116400 IEA O 2009-02-17 HPO:curators OMIM 116400 CATARACT, NUCLEAR TOTAL HP:0100018 OMIM:116400 IEA O 2010-06-18 HPO:skoehler OMIM 116600 #116600 CATARACT, POSTERIOR POLAR, 1; CTPP1;;CTPP;;CTPACATARACT, CONGENITAL TOTAL, INCLUDED HP:0000006 OMIM:116600 PCS I 2009-02-17 HPO:curators OMIM 116600 #116600 CATARACT, POSTERIOR POLAR, 1; CTPP1;;CTPP;;CTPACATARACT, CONGENITAL TOTAL, INCLUDED HP:0000519 OMIM:116600 PCS O 2009-02-17 HPO:curators OMIM 116600 #116600 CATARACT, POSTERIOR POLAR, 1; CTPP1;;CTPP;;CTPACATARACT, CONGENITAL TOTAL, INCLUDED HP:0000545 OMIM:116600 PCS O 2009-02-17 HPO:curators OMIM 116600 #116600 CATARACT, POSTERIOR POLAR, 1; CTPP1;;CTPP;;CTPACATARACT, CONGENITAL TOTAL, INCLUDED HP:0001115 pmid:19005574 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 116600 #116600 CATARACT, POSTERIOR POLAR, 1; CTPP1;;CTPP;;CTPACATARACT, CONGENITAL TOTAL, INCLUDED HP:0001139 OMIM:116600 PCS O 2009-02-17 HPO:curators OMIM 116600 #116600 CATARACT, POSTERIOR POLAR, 1; CTPP1;;CTPP;;CTPACATARACT, CONGENITAL TOTAL, INCLUDED HP:0010700 OMIM:116600 IEA O 2012-10-17 HPO:skoehler OMIM 116700 CATARACT 13 WITH ADULT I PHENOTYPE HP:0000006 PMID:21912254 PCS I 2009-02-17 HPO:probinson OMIM 116700 CATARACT 13 WITH ADULT I PHENOTYPE HP:0000007 OMIM:116700 IEA I 2017-07-13 HPO:skoehler OMIM 116700 CATARACT 13 WITH ADULT I PHENOTYPE HP:0000519 PMID:21912254 PCS O 2012-10-17 HPO:skoehler OMIM 116790 CATECHOL-O-METHYLTRANSFERASE HP:0000007 OMIM:116790 IEA I 2009-02-17 HPO:curators OMIM 116790 CATECHOL-O-METHYLTRANSFERASE HP:0001939 OMIM:116790 IEA O 2009-02-17 HPO:curators OMIM 116800 #116800 CATARACT, LAMELLAR;;CATARACT, ZONULAR;;PERINUCLEAR CATARACTCATARACT, MARNER TYPE, INCLUDED; CAM, INCLUDED;;CTM, INCLUDED HP:0000006 PMID:12089525 PCS I 2009-02-17 HPO:curators OMIM 116800 #116800 CATARACT, LAMELLAR;;CATARACT, ZONULAR;;PERINUCLEAR CATARACTCATARACT, MARNER TYPE, INCLUDED; CAM, INCLUDED;;CTM, INCLUDED HP:0001134 OMIM:116800 IEA O 2009-02-17 HPO:curators OMIM 116800 #116800 CATARACT, LAMELLAR;;CATARACT, ZONULAR;;PERINUCLEAR CATARACTCATARACT, MARNER TYPE, INCLUDED; CAM, INCLUDED;;CTM, INCLUDED HP:0007971 12089525 PCS O 2010-06-18 HPO:skoehler OMIM 116800 #116800 CATARACT, LAMELLAR;;CATARACT, ZONULAR;;PERINUCLEAR CATARACTCATARACT, MARNER TYPE, INCLUDED; CAM, INCLUDED;;CTM, INCLUDED HP:0010693 OMIM:116800 TAS O 2012-11-25 HPO:skoehler OMIM 116800 #116800 CATARACT, LAMELLAR;;CATARACT, ZONULAR;;PERINUCLEAR CATARACTCATARACT, MARNER TYPE, INCLUDED; CAM, INCLUDED;;CTM, INCLUDED HP:0100018 OMIM:116800 IEA O 2010-06-18 HPO:skoehler OMIM 116850 CATATRICHY HP:0000006 OMIM:116850 IEA I 2009-02-17 HPO:curators OMIM 116850 CATATRICHY HP:0001595 OMIM:116850 IEA O 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0000006 OMIM:116860 IEA I 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0000951 OMIM:116860 IEA O 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0001250 OMIM:116860 IEA O 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0001425 OMIM:116860 IEA I 2012-11-16 HPO:skoehler OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0002170 OMIM:116860 IEA O 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0002315 OMIM:116860 IEA O 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0002514 OMIM:116860 IEA O 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0003011 OMIM:116860 IEA O 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0003829 OMIM:116860 IEA C 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0006576 OMIM:116860 IEA O 2009-02-17 HPO:curators OMIM 116860 #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED HP:0007797 OMIM:116860 IEA O 2009-02-17 HPO:curators OMIM 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENTOF DIAPHRAGM HP:0000006 OMIM:116870 TAS I 2009-02-17 HPO:curators OMIM 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENTOF DIAPHRAGM HP:0002027 OMIM:116870 TAS O 2009-02-17 HPO:curators OMIM 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENTOF DIAPHRAGM HP:0012327 OMIM:116870 TAS O 2013-08-13 HPO:curators OMIM 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000007 OMIM:116920 TAS I 2009-02-17 HPO:probinson OMIM 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000230 OMIM:116920 TAS O 2009-02-17 HPO:probinson OMIM 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0000704 OMIM:116920 TAS O 2009-02-17 HPO:probinson OMIM 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0001974 OMIM:116920 TAS HP:0040282 O 2012-04-26 HPO:probinson OMIM 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0005224 OMIM:116920 TAS O 2012-04-26 HPO:probinson OMIM 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0005420 OMIM:116920 TAS O 2009-02-17 HPO:probinson OMIM 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I HP:0007499 OMIM:116920 TAS O 2012-04-26 HPO:probinson OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0000006 OMIM:117000 IEA I 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0000007 OMIM:117000 IEA I 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0001270 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0001319 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0001371 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0001374 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0001763 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0001945 OMIM:117000 IEA O 2012-11-16 HPO:skoehler OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0002047 OMIM:117000 TAS HP:0040283 O 2009-02-17 HPO:skoehler OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0002751 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0003202 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0003324 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0003593 OMIM:117000 IEA C 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0003677 OMIM:117000 IEA C 2012-11-16 HPO:skoehler OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0003680 OMIM:117000 IEA C 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0003798 OMIM:117000 IEA O 2010-06-20 HPO:skoehler OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0003803 OMIM:117000 IEA O 2009-02-17 HPO:curators OMIM 117000 #117000 CENTRAL CORE DISEASE OF MUSCLE;;CCD;;CCOMINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;;NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED;CNMDU1, INCLUDED HP:0003812 OMIM:117000 IEA C 2009-02-17 HPO:curators OMIM 117100 CENTRALOPATHIC EPILEPSY HP:0003745 OMIM:117100 TAS I 2014-01-04 HPO:probinson OMIM 117100 CENTRALOPATHIC EPILEPSY HP:0007334 OMIM:117100 TAS O 2009-02-17 HPO:probinson OMIM 117100 CENTRALOPATHIC EPILEPSY HP:0007359 OMIM:117100 TAS O 2013-12-15 HPO:probinson OMIM 117100 CENTRALOPATHIC EPILEPSY HP:0012557 OMIM:117100 TAS O 2014-01-04 HPO:probinson OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0000407 OMIM:117210 TAS HP:0040283 O 2012-04-01 HPO:probinson OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0001251 OMIM:117210 TAS O 2012-07-17 HPO:probinson OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0001260 IEA O 2009-02-17 HPO:curators OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0001272 OMIM:117210 TAS O 2012-07-17 HPO:probinson OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0002066 IEA O 2009-02-17 HPO:curators OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0002070 IEA O 2009-02-17 HPO:curators OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0003584 OMIM:117210 TAS HP:0040282 C 2012-04-01 HPO:probinson OMIM 117210 SPINOCEREBELLAR ATAXIA 31 HP:0007979 OMIM:117210 TAS HP:0040282 O 2012-04-01 HPO:probinson OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0000006 OMIM:117300 TAS I 2009-02-17 HPO:probinson OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0000365 OMIM:117300 TAS O 2009-02-17 HPO:curators OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0000709 OMIM:117300 TAS O 2009-02-17 HPO:curators OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0000726 OMIM:117300 TAS O 2009-02-17 HPO:curators OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0001115 OMIM:117300 TAS O 2009-02-17 HPO:curators OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0001251 pmid:20385796 PCS O 2015-02-01 HPO:curators OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0001257 pmid:20385796 PCS O 2015-02-01 HPO:curators OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0002080 OMIM:117300 TAS O 2009-02-17 HPO:curators OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0002185 pmid:11895040 PCS O 2015-02-01 HPO:curators OMIM 117300 DEMENTIA, FAMILIAL DANISH HP:0011970 pmid:20385796 PCS O 2015-02-01 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0000006 OMIM:117360 IEA I 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0000639 OMIM:117360 IEA O 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0001251 OMIM:117360 TAS O 2009-02-17 HPO:probinson OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0001260 OMIM:117360 IEA O 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0001270 OMIM:117360 IEA O 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0001310 OMIM:117360 IEA O 2013-02-25 HPO:skoehler OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002070 OMIM:117360 IEA O 2013-02-25 HPO:skoehler OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002075 OMIM:117360 IEA O 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002080 OMIM:117360 IEA O 2013-02-25 HPO:skoehler OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002136 OMIM:117360 IEA O 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002335 OMIM:117360 IEA O 2015-01-19 HPO:skoehler OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0002470 OMIM:117360 IEA O 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0003577 OMIM:117360 IEA C 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0003812 OMIM:117360 IEA C 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0006855 OMIM:117360 IEA O 2009-02-17 HPO:curators OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV HP:0006855 OMIM:117360 TAS O 2009-02-17 HPO:probinson OMIM 117360 #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV MILD HP:0100543 OMIM:117360 IEA O 2014-04-04 HPO:skoehler OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000006 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS I #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2010-10-25 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000098 ISBN-13:978-0721606156 TAS HP:0003577 O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2010-10-21 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000189 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2010-10-21 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000218 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000256 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000268 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000303 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000307 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000316 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2010-10-21 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000388 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000405 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000486 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000494 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000540 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000639 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0000708 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001176 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001249 OMIM:117550 IEA O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2013-06-16 HPO:skoehler OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001250 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001263 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001319 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001338 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001347 OMIM:117550 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001388 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001629 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001631 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001643 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001763 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2010-10-25 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001792 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001833 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0001952 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2010-10-21 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002007 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002280 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002370 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2010-10-25 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002389 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002474 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002650 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2010-10-25 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002667 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002705 OMIM:117550 IEA O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2015-12-30 HPO:skoehler OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0002857 OMIM:117550 IEA O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2012-10-17 HPO:skoehler OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0003745 OMIM:117550 TAS I #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0005616 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0006288 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117550 #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME HP:0009890 ISBN-13:978-0721606156 TAS O #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME 2009-02-17 HPO:curators OMIM 117600 117600 CEREBRAL SARCOMA HP:0000006 OMIM:117600 IEA I 2009-02-17 HPO:curators OMIM 117600 117600 CEREBRAL SARCOMA HP:0100244 OMIM:117600 IEA O 2012-11-16 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000006 OMIM:117650 TAS I 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000007 OMIM:117650 TAS I 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000085 OMIM:117650 IEA O 2017-07-13 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000086 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000107 OMIM:117650 TAS O 2014-01-28 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000162 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000164 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000185 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000218 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000252 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000272 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000286 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000343 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000347 OMIM:117650 TAS O 2012-04-30 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000358 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000369 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000405 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000465 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0000878 OMIM:117650 TAS O 2015-02-21 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001249 OMIM:117650 TAS HP:0040284 O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001374 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001545 OMIM:117650 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001561 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001591 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001611 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001629 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001631 OMIM:117650 IEA O 2017-07-13 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0001643 OMIM:117650 IEA O 2017-07-13 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0002020 OMIM:117650 IEA O 2017-07-13 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0002025 OMIM:117650 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0002132 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0002643 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0002650 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0002987 OMIM:117650 TAS O 2015-02-21 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0004209 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0004468 OMIM:117650 TAS O 2015-12-21 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0004695 OMIM:117650 TAS O 2015-02-21 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0005257 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0005792 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0006593 OMIM:117650 TAS O 2009-02-17 HPO:probinson OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0008897 OMIM:117650 TAS O 2012-10-17 HPO:skoehler OMIM 117650 CEREBROCOSTOMANDIBULAR SYNDROME HP:0010290 OMIM:117650 TAS O 2010-06-18 HPO:skoehler OMIM 117800 EAR WAX, WET/DRY HP:0000006 OMIM:117800 IEA I 2009-02-17 HPO:curators OMIM 117800 EAR WAX, WET/DRY HP:0000598 OMIM:117800 IEA O 2009-02-17 HPO:curators OMIM 117800 EAR WAX, WET/DRY HP:0003002 OMIM:117800 IEA O 2010-06-20 HPO:skoehler OMIM 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS HP:0000006 OMIM:117850 TAS I 2009-02-17 HPO:probinson OMIM 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS HP:0002751 OMIM:117850 TAS O 2009-02-17 HPO:probinson OMIM 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS HP:0004532 OMIM:117850 TAS O 2009-02-17 HPO:probinson OMIM 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS HP:0004535 OMIM:117850 TAS O 2009-02-17 HPO:probinson OMIM 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS HP:0011913 OMIM:117850 TAS O 2012-07-18 HPO:probinson OMIM 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS HP:0011914 OMIM:117850 TAS O 2012-07-18 HPO:probinson OMIM 117900 CERVICAL RIB HP:0000006 OMIM:117900 IEA I 2009-02-17 HPO:curators OMIM 117900 CERVICAL RIB HP:0000707 OMIM:117900 IEA O 2009-02-17 HPO:curators OMIM 117900 CERVICAL RIB HP:0000891 OMIM:117900 IEA O 2009-02-17 HPO:curators OMIM 118000 CERVICAL VERTEBRAL BRIDGE HP:0000006 OMIM:118000 IEA I 2009-02-17 HPO:curators OMIM 118000 CERVICAL VERTEBRAL BRIDGE HP:0000925 OMIM:118000 IEA O 2009-02-17 HPO:curators OMIM 118005 CERVICAL VERTEBRAL DYSPLASIA HP:0000006 OMIM:118005 TAS I 2009-02-17 HPO:probinson OMIM 118005 CERVICAL VERTEBRAL DYSPLASIA HP:0005678 OMIM:118005 TAS O 2009-02-17 HPO:probinson OMIM 118005 CERVICAL VERTEBRAL DYSPLASIA HP:0008461 OMIM:118005 TAS O 2009-02-17 HPO:probinson OMIM 118005 CERVICAL VERTEBRAL DYSPLASIA HP:0008469 OMIM:118005 TAS O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000006 PMID:18425797 PCS I 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000122 PMID:4436358 PCS HP:0040284 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000175 PMID:4436358 PCS HP:0040283 O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000324 PMID:4436358 PCS HP:0040284 O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000410 PMID:9875048 PCS HP:0040284 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000465 PMID:4436358 PCS HP:0040284 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000466 PMID:1739048 PCS HP:0040281 O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000470 PMID:1739048 PCS HP:0040281 O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000772 ISBN-13:978-0721606156 PCS HP:0040283 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0000912 PMID:4436358 PCS HP:0040284 O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0001335 PMID:4436358 PCS HP:0040284 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0002162 PMID:1739048;PMID:4436358 PCS HP:0040282 O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0002650 PMID:4436358 PCS HP:0040284 O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0002813 PMID:16585825;PMID:18425797 PCS HP:0003577 HP:0040283 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0003828 TAS C 2015-12-30 HPO:skoehler OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0004602 PMID:18425797 PCS HP:0040281 O 2009-02-17 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0005640 PMID:18425797 PCS HP:0003577 HP:0040281 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0005988 PMID:4436358 PCS HP:0040284 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0007291 ISBN-13:978-0721606156 PCS HP:0040283 O 2012-04-24 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0030325 PMID:11950676 PCS O 2015-04-19 HPO:probinson OMIM 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HP:0030680 PMID:4436358;PMID:5645110 PCS HP:0040284 O 2012-04-24 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0000006 OMIM:118200 IEA I 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0001171 TAS O 2015-12-30 HPO:skoehler OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0001178 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0001265 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0001284 OMIM:118200 IEA O 2012-10-17 HPO:skoehler OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0001425 OMIM:118200 IEA I 2012-11-16 HPO:skoehler OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0001761 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0001765 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0002460 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0002751 OMIM:118200 PCS HP:0040282 O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0002936 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003376 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003380 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003382 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003383 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003431 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003449 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003587 OMIM:118200 IEA C 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003621 OMIM:118200 PCS C 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003677 OMIM:118200 IEA C 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003693 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003693 OMIM:118200 PCS O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0003828 OMIM:118200 IEA C 2014-04-04 HPO:skoehler OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0004336 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0009027 OMIM:118200 IEA O 2009-02-17 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0011096 OMIM:118200 PCS HP:0040282 O 2012-04-11 HPO:probinson OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HP:0012074 OMIM:118200 IEA O 2013-02-25 HPO:skoehler OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0001265 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0001284 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0001425 OMIM:118210 IEA I 2012-11-16 HPO:skoehler OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0001761 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0001765 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0002460 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0002936 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003376 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003378 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003380 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003383 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003384 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003431 OMIM:118210 IEA O 2009-02-17 HPO:probinson OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003674 IEA C 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003677 IEA C 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003693 IEA O 2009-02-17 HPO:curators OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0003693 OMIM:118210 TAS O 2009-02-17 HPO:probinson OMIM 118210 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;;HMSN IIA1;;HMSN2A1 HP:0009027 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0000006 OMIM:118220 IEA I 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0000365 OMIM:118220 IEA O 2012-11-16 HPO:skoehler OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0001171 TAS O 2015-12-30 HPO:skoehler OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0001178 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0001265 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0001284 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0001425 OMIM:118220 IEA I 2012-11-16 HPO:skoehler OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0001761 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0001765 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0002460 OMIM:118220 TAS O 2009-02-17 HPO:probinson OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0002751 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0002936 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003376 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003380 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003382 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003383 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003431 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003449 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003481 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003587 OMIM:118220 IEA C 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003621 OMIM:118220 IEA C 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003677 OMIM:118220 IEA C 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003693 OMIM:118220 TAS O 2009-02-17 HPO:probinson OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0003828 OMIM:118220 IEA C 2012-10-17 HPO:skoehler OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0004336 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HP:0009027 OMIM:118220 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000006 OMIM:118230 IEA I 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000470 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000774 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0000975 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001026 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001270 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001301 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001315 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001417 OMIM:118230 IEA I 2012-11-16 HPO:skoehler OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001600 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001678 OMIM:118230 IEA O 2012-10-17 HPO:skoehler OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001761 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0001999 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002013 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002018 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0002028 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003009 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003091 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003447 OMIM:118230 IEA O 2012-03-15 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003474 OMIM:118230 TAS O 2012-07-17 HPO:probinson OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003593 OMIM:118230 IEA C 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0003693 OMIM:118230 TAS O 2012-07-17 HPO:probinson OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0004875 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0005150 OMIM:118230 TAS O 2012-04-11 HPO:probinson OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0005853 OMIM:118230 IEA O 2009-02-17 HPO:curators OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0009049 OMIM:118230 TAS O 2009-02-17 HPO:probinson OMIM 118230 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE HP:0011727 OMIM:118230 TAS O 2012-07-17 HPO:probinson OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0000006 OMIM:118300 IEA I 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0000407 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0001171 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0001265 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0001284 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0001761 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0001765 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0001884 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0002460 OMIM:118300 TAS O 2009-02-17 HPO:skoehler OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0002936 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0003376 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0003431 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0003621 OMIM:118300 IEA C 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0003693 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0003693 OMIM:118300 TAS O 2009-02-17 HPO:skoehler OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0009027 OMIM:118300 IEA O 2009-02-17 HPO:curators OMIM 118300 #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E HP:0011463 OMIM:118300 IEA C 2012-10-17 HPO:skoehler OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000006 OMIM:118301 IEA I 2012-11-16 HPO:skoehler OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000007 OMIM:118301 IEA I 2012-11-16 HPO:skoehler OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000508 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000726 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000762 OMIM:118301 IEA O 2009-02-17 HPO:probinson OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000763 OMIM:118301 PCS O 2009-02-17 HPO:probinson OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0000975 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001026 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001278 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001300 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001301 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001315 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001347 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001417 OMIM:118301 IEA I 2012-11-18 HPO:skoehler OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001678 OMIM:118301 IEA O 2012-10-17 HPO:skoehler OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0001761 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002013 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002018 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002028 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002171 OMIM:118301 IEA O 2012-11-16 HPO:skoehler OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0002398 OMIM:118301 PCS O 2012-03-15 HPO:probinson OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003009 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003091 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003447 OMIM:118301 PCS O 2012-03-15 HPO:probinson OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0003693 OMIM:118301 PCS O 2012-03-15 HPO:probinson OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0005150 OMIM:118301 PCS O 2012-04-11 HPO:probinson OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0007110 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0009049 IEA O 2009-02-17 HPO:curators OMIM 118301 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM HP:0011727 OMIM:118301 PCS O 2012-04-11 HPO:probinson OMIM 118330 CHEILITIS GLANDULARIS HP:0000006 OMIM:118330 IEA I 2009-02-17 HPO:curators OMIM 118330 CHEILITIS GLANDULARIS HP:0000232 OMIM:118330 IEA O 2009-02-17 HPO:curators OMIM 118330 CHEILITIS GLANDULARIS HP:0002860 OMIM:118330 TAS O 2010-06-20 HPO:skoehler OMIM 118330 CHEILITIS GLANDULARIS HP:0100825 OMIM:118330 IEA O 2015-01-27 HPO:skoehler OMIM 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS HP:0000006 OMIM:118350 IEA I 2009-02-17 HPO:curators OMIM 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS HP:0006729 OMIM:118350 IEA O 2009-02-17 HPO:curators OMIM 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS HP:0006773 OMIM:118350 IEA O 2009-02-17 HPO:curators OMIM 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS HP:0030074 OMIM:118350 IEA O 2015-01-27 HPO:skoehler OMIM 118400 CHERUBISM HP:0000006 OMIM:118400 IEA I 2009-02-17 HPO:curators OMIM 118400 CHERUBISM HP:0000311 OMIM:118400 TAS O 2009-02-17 HPO:skoehler OMIM 118400 CHERUBISM HP:0000505 OMIM:118400 IEA O 2009-02-17 HPO:curators OMIM 118400 CHERUBISM HP:0000520 OMIM:118400 IEA O 2009-02-17 HPO:curators OMIM 118400 CHERUBISM HP:0000677 OMIM:118400 IEA O 2009-02-17 HPO:curators OMIM 118400 CHERUBISM HP:0001065 OMIM:118400 IEA O 2010-06-20 HPO:skoehler OMIM 118400 CHERUBISM HP:0001133 OMIM:118400 IEA O 2009-02-17 HPO:curators OMIM 118400 CHERUBISM HP:0001138 OMIM:118400 IEA O 2009-02-17 HPO:curators OMIM 118400 CHERUBISM HP:0007663 OMIM:118400 IEA O 2015-07-26 HPO:skoehler OMIM 118400 CHERUBISM HP:0011463 OMIM:118400 TAS C 2009-02-17 HPO:skoehler OMIM 118400 CHERUBISM HP:0030802 OMIM:118400 IEA O 2017-07-13 HPO:skoehler OMIM 118400 CHERUBISM HP:0200056 OMIM:118400 IEA O 2012-11-16 HPO:skoehler OMIM 118400 CHERUBISM HP:0200057 OMIM:118400 IEA O 2012-11-18 HPO:skoehler OMIM 118420 CHIARI MALFORMATION TYPE I HP:0000006 OMIM:118420 IEA I 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0000020 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0000360 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0000365 OMIM:118420 TAS O 2009-02-17 HPO:probinson OMIM 118420 CHIARI MALFORMATION TYPE I HP:0000613 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0000639 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0000651 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0001260 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0002015 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0002061 OMIM:118420 TAS O 2013-03-30 HPO:probinson OMIM 118420 CHIARI MALFORMATION TYPE I HP:0002066 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0002315 OMIM:118420 TAS O 2013-03-30 HPO:probinson OMIM 118420 CHIARI MALFORMATION TYPE I HP:0002317 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0002321 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0002395 OMIM:118420 TAS O 2009-02-17 HPO:skoehler OMIM 118420 CHIARI MALFORMATION TYPE I HP:0002650 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0003396 OMIM:118420 TAS O 2013-03-30 HPO:probinson OMIM 118420 CHIARI MALFORMATION TYPE I HP:0003401 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0003487 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0003690 OMIM:118420 IEA O 2010-06-20 HPO:skoehler OMIM 118420 CHIARI MALFORMATION TYPE I HP:0005758 OMIM:118420 IEA O 2013-10-22 HPO:skoehler OMIM 118420 CHIARI MALFORMATION TYPE I HP:0005759 OMIM:118420 IEA O 2009-02-17 HPO:curators OMIM 118420 CHIARI MALFORMATION TYPE I HP:0007099 OMIM:118420 TAS O 2009-02-17 HPO:skoehler OMIM 118420 CHIARI MALFORMATION TYPE I HP:0010780 OMIM:118420 IEA O 2010-06-18 HPO:skoehler OMIM 118420 CHIARI MALFORMATION TYPE I HP:0012046 OMIM:118420 TAS O 2013-03-30 HPO:probinson OMIM 118420 CHIARI MALFORMATION TYPE I HP:0030833 OMIM:118420 IEA O 2017-07-13 HPO:skoehler OMIM 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING HP:0000006 OMIM:118430 TAS I 2009-02-17 HPO:curators OMIM 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING HP:0001033 OMIM:118430 TAS O 2015-07-19 HPO:probinson OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000006 OMIM:118450 IEA I 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000076 OMIM:118450 IEA O 2012-10-17 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000089 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000110 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000316 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000325 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000337 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000400 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000482 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000486 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000490 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000518 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000533 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000545 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000582 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000585 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000627 OMIM:118450 IEA O 2012-10-17 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0000772 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001256 OMIM:118450 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001284 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001297 OMIM:118450 IEA O 2013-05-31 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001328 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001394 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001402 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001492 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001508 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001629 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001631 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001636 OMIM:118450 IEA O 2010-06-18 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001680 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001738 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0001947 OMIM:118450 IEA O 2012-10-17 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0002155 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0002895 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0002910 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0002937 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0003022 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0003124 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0003189 OMIM:118450 TAS O 2009-02-17 HPO:probinson OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0003593 OMIM:118450 IEA C 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0003829 OMIM:118450 IEA C 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0004617 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0004969 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0005280 OMIM:118450 IEA O 2012-11-25 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0006571 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0006579 OMIM:118450 IEA O 2013-06-03 HPO:skoehler OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0007702 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0008659 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118450 #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC HP:0009882 OMIM:118450 IEA O 2009-02-17 HPO:curators OMIM 118600 #118600 CHONDROCALCINOSIS 2; CCAL2;;CHONDROCALCINOSIS, FAMILIAL ARTICULAR;;CALCIUM GOUT;;CALCIUM PYROPHOSPHATE ARTHROPATHY;;CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE; CPPDD HP:0000006 OMIM:118600 IEA I 2009-02-17 HPO:curators OMIM 118600 #118600 CHONDROCALCINOSIS 2; CCAL2;;CHONDROCALCINOSIS, FAMILIAL ARTICULAR;;CALCIUM GOUT;;CALCIUM PYROPHOSPHATE ARTHROPATHY;;CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE; CPPDD HP:0002758 OMIM:118600 IEA O 2009-02-17 HPO:curators OMIM 118600 #118600 CHONDROCALCINOSIS 2; CCAL2;;CHONDROCALCINOSIS, FAMILIAL ARTICULAR;;CALCIUM GOUT;;CALCIUM PYROPHOSPHATE ARTHROPATHY;;CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE; CPPDD HP:0003040 OMIM:118600 IEA O 2009-02-17 HPO:curators OMIM 118600 #118600 CHONDROCALCINOSIS 2; CCAL2;;CHONDROCALCINOSIS, FAMILIAL ARTICULAR;;CALCIUM GOUT;;CALCIUM PYROPHOSPHATE ARTHROPATHY;;CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE; CPPDD HP:0003581 OMIM:118600 TAS C 2012-11-16 HPO:skoehler OMIM 118600 #118600 CHONDROCALCINOSIS 2; CCAL2;;CHONDROCALCINOSIS, FAMILIAL ARTICULAR;;CALCIUM GOUT;;CALCIUM PYROPHOSPHATE ARTHROPATHY;;CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE; CPPDD HP:0005017 OMIM:118600 IEA O 2009-02-17 HPO:curators OMIM 118610 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION;;FAMILIAL APATITE DISEASE HP:0000006 OMIM:118610 IEA I 2009-02-17 HPO:curators OMIM 118610 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION;;FAMILIAL APATITE DISEASE HP:0000934 OMIM:118610 IEA O 2009-02-17 HPO:curators OMIM 118610 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION;;FAMILIAL APATITE DISEASE HP:0003040 OMIM:118610 IEA O 2009-02-17 HPO:curators OMIM 118610 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION;;FAMILIAL APATITE DISEASE HP:0004268 OMIM:118610 IEA O 2012-11-16 HPO:skoehler OMIM 118610 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION;;FAMILIAL APATITE DISEASE HP:0005645 OMIM:118610 IEA O 2009-02-17 HPO:curators OMIM 118610 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION;;FAMILIAL APATITE DISEASE HP:0006646 OMIM:118610 TAS O 2009-02-17 HPO:probinson OMIM 118610 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION;;FAMILIAL APATITE DISEASE HP:0006649 OMIM:118610 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0000006 OMIM:118650 IEA I 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0000518 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0001762 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0002007 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0002208 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0002650 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0003273 OMIM:118650 TAS O 2009-02-17 HPO:probinson OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0004646 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0006380 OMIM:118650 TAS O 2012-07-17 HPO:probinson OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0007390 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0008070 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0008855 OMIM:118650 IEA O 2009-02-17 HPO:curators OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0010655 OMIM:118650 TAS O 2009-02-17 HPO:probinson OMIM 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED HP:0011892 OMIM:118650 TAS O 2015-01-21 HPO:skoehler OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0000006 OMIM:118651 TAS I 2009-02-17 HPO:probinson OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0000272 OMIM:118651 IEA O 2009-02-17 HPO:curators OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0000457 OMIM:118651 IEA O 2009-02-17 HPO:curators OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0002832 OMIM:118651 TAS O 2009-02-17 HPO:curators OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0002983 OMIM:118651 TAS O 2012-10-17 HPO:skoehler OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0003417 OMIM:118651 TAS O 2009-02-17 HPO:probinson OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0005736 OMIM:118651 TAS O 2009-02-17 HPO:probinson OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0010038 OMIM:118651 TAS O 2012-06-03 HPO:probinson OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0010041 OMIM:118651 TAS O 2012-06-03 HPO:probinson OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0010044 OMIM:118651 TAS HP:0040283 O 2012-06-03 HPO:probinson OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0010655 pmid:9719382 TAS O 2009-02-17 HPO:probinson OMIM 118651 %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE HP:0011800 OMIM:118651 IEA O 2015-11-15 HPO:skoehler OMIM 118700 #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA HP:0000006 OMIM:118700 IEA I 2009-02-17 HPO:curators OMIM 118700 #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA HP:0000739 OMIM:118700 IEA O 2010-06-20 HPO:skoehler OMIM 118700 #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA HP:0001260 OMIM:118700 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 118700 #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA HP:0001270 OMIM:118700 IEA O 2009-02-17 HPO:curators OMIM 118700 #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA HP:0001288 OMIM:118700 IEA O 2009-02-17 HPO:curators OMIM 118700 #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA HP:0002072 OMIM:118700 IEA O 2009-02-17 HPO:curators OMIM 118700 #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA HP:0003621 OMIM:118700 IEA C 2009-02-17 HPO:curators OMIM 118700 #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA HP:0003812 OMIM:118700 IEA C 2009-02-17 HPO:curators OMIM 118750 CHOREOATHETOSIS, FAMILIAL INVERTED HP:0000006 OMIM:118750 IEA I 2009-02-17 HPO:curators OMIM 118750 CHOREOATHETOSIS, FAMILIAL INVERTED HP:0000726 OMIM:118750 IEA O 2010-06-20 HPO:skoehler OMIM 118750 CHOREOATHETOSIS, FAMILIAL INVERTED HP:0001250 OMIM:118750 IEA O 2010-06-20 HPO:skoehler OMIM 118750 CHOREOATHETOSIS, FAMILIAL INVERTED HP:0001288 OMIM:118750 IEA O 2009-02-17 HPO:curators OMIM 118750 CHOREOATHETOSIS, FAMILIAL INVERTED HP:0002063 OMIM:118750 IEA O 2010-06-20 HPO:skoehler OMIM 118750 CHOREOATHETOSIS, FAMILIAL INVERTED HP:0003593 OMIM:118750 IEA C 2009-02-17 HPO:curators OMIM 118750 CHOREOATHETOSIS, FAMILIAL INVERTED HP:0007256 OMIM:118750 IEA O 2009-02-17 HPO:curators OMIM 118750 CHOREOATHETOSIS, FAMILIAL INVERTED HP:0007326 OMIM:118750 IEA O 2009-02-17 HPO:curators OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0000006 OMIM:118800 IEA I 2009-02-17 HPO:curators OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0000273 OMIM:118800 IEA O 2009-02-17 HPO:curators OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0000473 OMIM:118800 TAS O 2012-04-27 HPO:probinson OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0001260 OMIM:118800 IEA O 2009-02-17 HPO:curators OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0002015 OMIM:118800 IEA O 2009-02-17 HPO:curators OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0002268 OMIM:118800 IEA O 2009-02-17 HPO:curators OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0002411 OMIM:118800 IEA O 2009-02-17 HPO:curators OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0003593 OMIM:118800 IEA C 2012-11-16 HPO:skoehler OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0007098 OMIM:118800 TAS O 2012-04-27 HPO:probinson OMIM 118800 #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8 HP:0011463 OMIM:118800 IEA C 2009-02-17 HPO:curators OMIM 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0000006 OMIM:118830 TAS I 2009-02-17 HPO:probinson OMIM 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0001744 OMIM:118830 TAS O 2009-02-17 HPO:probinson OMIM 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0002027 OMIM:118830 TAS O 2010-06-20 HPO:skoehler OMIM 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0010980 OMIM:118830 TAS O 2012-07-19 HPO:probinson OMIM 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE HP:0100027 OMIM:118830 TAS O 2012-07-19 HPO:probinson OMIM 118865 CHOROIDAL OSTEOMA, BILATERAL HP:0000006 OMIM:118865 IEA I 2017-07-13 HPO:skoehler OMIM 118865 CHOROIDAL OSTEOMA, BILATERAL HP:0000610 OMIM:118865 IEA O 2010-06-20 HPO:skoehler OMIM 118865 CHOROIDAL OSTEOMA, BILATERAL HP:0001939 OMIM:118865 IEA O 2009-02-17 HPO:curators OMIM 118865 CHOROIDAL OSTEOMA, BILATERAL HP:0100246 OMIM:118865 IEA O 2012-11-16 HPO:skoehler OMIM 118900 118900 CIRRHOSIS, FAMILIAL HP:0001394 OMIM:118900 IEA O 2009-02-17 HPO:curators OMIM 118900 118900 CIRRHOSIS, FAMILIAL HP:0010702 OMIM:118900 IEA O 2009-02-17 HPO:curators OMIM 118900 118900 CIRRHOSIS, FAMILIAL HP:0200120 OMIM:118900 IEA O 2013-06-11 HPO:skoehler OMIM 118980 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL HP:0000006 OMIM:118980 IEA I 2009-02-17 HPO:curators OMIM 118980 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL HP:0000164 OMIM:118980 IEA O 2009-02-17 HPO:curators OMIM 118980 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL HP:0002705 OMIM:118980 IEA O 2015-12-30 HPO:skoehler OMIM 118980 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL HP:0004322 OMIM:118980 IEA O 2009-02-17 HPO:curators OMIM 118980 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL HP:0006585 OMIM:118980 TAS O 2012-07-16 HPO:probinson OMIM 119000 CLEFT CHIN HP:0000006 OMIM:119000 IEA I 2009-02-17 HPO:curators OMIM 119000 CLEFT CHIN HP:0400001 OMIM:119000 IEA O 2017-07-13 HPO:skoehler OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0000006 OMIM:119100 IEA I 2009-02-17 HPO:curators OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0000378 OMIM:119100 IEA O 2009-02-17 HPO:curators OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0001171 OMIM:119100 TAS O 2012-07-16 HPO:probinson OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0001839 OMIM:119100 TAS O 2009-02-17 HPO:probinson OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0004058 OMIM:119100 TAS O 2012-07-16 HPO:probinson OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0005632 OMIM:119100 IEA O 2009-02-17 HPO:curators OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0006443 OMIM:119100 TAS O 2009-02-17 HPO:probinson OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0006495 OMIM:119100 IEA O 2009-02-17 HPO:curators OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0009460 OMIM:119100 IEA O 2017-07-13 HPO:skoehler OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0009556 OMIM:119100 TAS O 2012-07-16 HPO:probinson OMIM 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0010109 OMIM:119100 IEA O 2009-02-17 HPO:curators OMIM 119300 VAN DER WOUDE SYNDROME HP:0000006 OMIM:119300 IEA I 2009-02-17 HPO:curators OMIM 119300 VAN DER WOUDE SYNDROME HP:0000175 OMIM:119300 IEA O 2009-02-17 HPO:curators OMIM 119300 VAN DER WOUDE SYNDROME HP:0000193 OMIM:119300 IEA O 2009-02-17 HPO:curators OMIM 119300 VAN DER WOUDE SYNDROME HP:0000196 OMIM:119300 IEA O 2009-02-17 HPO:curators OMIM 119300 VAN DER WOUDE SYNDROME HP:0000204 OMIM:119300 IEA O 2009-02-17 HPO:curators OMIM 119300 VAN DER WOUDE SYNDROME HP:0000668 OMIM:119300 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000006 OMIM:119500 IEA I 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000013 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000028 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000046 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000048 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000059 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000175 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000196 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000204 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0000726 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0001762 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0003298 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0008726 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0009754 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0009755 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0009756 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0009757 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0009758 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119500 POPLITEAL PTERYGIUM SYNDROME HP:0010554 OMIM:119500 IEA O 2009-02-17 HPO:curators OMIM 119530 %119530 OROFACIAL CLEFT 1; OFC1;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1;;OROFACIAL CLEFT, NONSYNDROMIC; OFC;;CLEFT LIP/PALATE, NONSYNDROMIC HP:0000006 OMIM:119530 TAS I 2009-02-17 HPO:probinson OMIM 119530 %119530 OROFACIAL CLEFT 1; OFC1;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1;;OROFACIAL CLEFT, NONSYNDROMIC; OFC;;CLEFT LIP/PALATE, NONSYNDROMIC HP:0000175 OMIM:119530 TAS O 2010-06-20 HPO:skoehler OMIM 119530 %119530 OROFACIAL CLEFT 1; OFC1;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1;;OROFACIAL CLEFT, NONSYNDROMIC; OFC;;CLEFT LIP/PALATE, NONSYNDROMIC HP:0000204 OMIM:119530 TAS O 2009-02-17 HPO:probinson OMIM 119530 %119530 OROFACIAL CLEFT 1; OFC1;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1;;OROFACIAL CLEFT, NONSYNDROMIC; OFC;;CLEFT LIP/PALATE, NONSYNDROMIC HP:0001425 OMIM:119530 IEA I 2012-11-16 HPO:skoehler OMIM 119540 #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED HP:0000006 OMIM:119540 IEA I 2009-02-17 HPO:curators OMIM 119540 #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED HP:0000175 OMIM:119540 TAS O 2009-02-17 HPO:skoehler OMIM 119540 #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED HP:0000212 OMIM:119540 TAS O 2012-07-26 HPO:skoehler OMIM 119540 #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED HP:0000347 OMIM:119540 TAS O 2012-07-26 HPO:skoehler OMIM 119540 #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED HP:0001250 OMIM:119540 IEA O 2012-10-17 HPO:skoehler OMIM 119540 #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED HP:0002187 OMIM:119540 IEA O 2012-10-17 HPO:skoehler OMIM 119540 #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED HP:0009102 OMIM:119540 TAS O 2012-07-26 HPO:skoehler OMIM 119540 #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED HP:0011094 OMIM:119540 IEA O 2012-11-16 HPO:skoehler OMIM 119550 CLEFT PALATE-LATERAL SYNECHIA SYNDROME HP:0000006 OMIM:119550 IEA I 2009-02-17 HPO:curators OMIM 119550 CLEFT PALATE-LATERAL SYNECHIA SYNDROME HP:0000175 OMIM:119550 IEA O 2009-02-17 HPO:curators OMIM 119570 CLEFT SOFT PALATE HP:0000006 OMIM:119570 IEA I 2009-02-17 HPO:curators OMIM 119570 CLEFT SOFT PALATE HP:0000185 OMIM:119570 IEA O 2009-02-17 HPO:curators OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0000006 OMIM:119580 IEA I 2009-02-17 HPO:curators OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0000204 OMIM:119580 TAS O 2009-02-17 HPO:skoehler OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0000316 OMIM:119580 IEA O 2009-02-17 HPO:curators OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0000668 OMIM:119580 TAS O 2012-10-17 HPO:skoehler OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0000698 OMIM:119580 IEA O 2009-02-17 HPO:curators OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0001792 OMIM:119580 TAS O 2012-10-17 HPO:skoehler OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0002023 OMIM:119580 IEA HP:0040283 O 2013-05-07 HPO:skoehler OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0007651 OMIM:119580 TAS O 2012-10-17 HPO:skoehler OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0009743 OMIM:119580 TAS O 2012-11-16 HPO:skoehler OMIM 119580 %119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS;;BCD SYNDROME;;CLEFTING, ECTROPION, AND CONICAL TEETH;;ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;;ELSCHNIG SYNDROME;;LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE HP:0030084 OMIM:119580 IEA O 2014-09-21 HPO:skoehler OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000006 OMIM:119600 IEA I 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000175 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000189 OMIM:119600 TAS O 2013-08-11 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000218 OMIM:119600 TAS O 2013-08-11 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000242 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000272 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000316 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000347 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000365 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000680 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000696 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000773 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000774 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000882 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000891 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0000894 OMIM:119600 TAS O 2012-10-17 HPO:skoehler OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0001156 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002007 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002643 OMIM:119600 TAS O 2013-12-15 HPO:probinson OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002645 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002650 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002659 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002684 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002688 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002689 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002700 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002705 OMIM:119600 IEA O 2015-12-30 HPO:skoehler OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002738 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002808 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002812 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0002866 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0003183 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0003302 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0003304 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0003396 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0004220 OMIM:119600 TAS O 2013-12-15 HPO:probinson OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0004474 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0005259 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0005280 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0006040 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0006297 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0006660 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0008788 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0008848 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0009577 OMIM:119600 TAS O 2013-12-15 HPO:probinson OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0010230 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0011001 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0011069 OMIM:119600 IEA O 2009-02-17 HPO:curators OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0011800 OMIM:119600 TAS O 2013-11-28 HPO:skoehler OMIM 119600 #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED HP:0100864 OMIM:119600 IEA O 2010-06-20 HPO:skoehler OMIM 119650 CLEIDORHIZOMELIC SYNDROME HP:0000006 OMIM:119650 IEA I 2009-02-17 HPO:curators OMIM 119650 CLEIDORHIZOMELIC SYNDROME HP:0000889 OMIM:119650 TAS O 2009-02-17 HPO:probinson OMIM 119650 CLEIDORHIZOMELIC SYNDROME HP:0004209 OMIM:119650 IEA O 2009-02-17 HPO:curators OMIM 119650 CLEIDORHIZOMELIC SYNDROME HP:0004220 OMIM:119650 TAS O 2009-02-17 HPO:probinson OMIM 119650 CLEIDORHIZOMELIC SYNDROME HP:0008905 OMIM:119650 TAS O 2009-02-17 HPO:probinson OMIM 119800 #119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/ORMIRROR-IMAGE POLYDACTYLY; CCF HP:0000006 OMIM:119800 IEA I 2012-10-17 HPO:skoehler OMIM 119800 #119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/ORMIRROR-IMAGE POLYDACTYLY; CCF HP:0001762 OMIM:119800 IEA O 2009-02-17 HPO:curators OMIM 119800 #119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/ORMIRROR-IMAGE POLYDACTYLY; CCF HP:0001829 OMIM:119800 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 119800 #119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/ORMIRROR-IMAGE POLYDACTYLY; CCF HP:0003065 OMIM:119800 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 119800 #119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/ORMIRROR-IMAGE POLYDACTYLY; CCF HP:0003829 OMIM:119800 IEA C 2012-10-17 HPO:skoehler OMIM 119900 DIGITAL CLUBBING, ISOLATED CONGENITAL HP:0000006 OMIM:119900 IEA I 2009-02-17 HPO:curators OMIM 119900 DIGITAL CLUBBING, ISOLATED CONGENITAL HP:0000007 OMIM:119900 IEA I 2017-07-13 HPO:skoehler OMIM 119900 DIGITAL CLUBBING, ISOLATED CONGENITAL HP:0001217 OMIM:119900 IEA O 2009-02-17 HPO:curators OMIM 119915 CLUSTER HEADACHE, FAMILIAL HP:0000006 OMIM:119915 IEA I 2009-02-17 HPO:curators OMIM 119915 CLUSTER HEADACHE, FAMILIAL HP:0000508 OMIM:119915 IEA O 2012-11-16 HPO:skoehler OMIM 119915 CLUSTER HEADACHE, FAMILIAL HP:0000616 OMIM:119915 IEA O 2012-11-16 HPO:skoehler OMIM 119915 CLUSTER HEADACHE, FAMILIAL HP:0000713 OMIM:119915 IEA O 2009-02-17 HPO:curators OMIM 119915 CLUSTER HEADACHE, FAMILIAL HP:0000969 OMIM:119915 IEA O 2010-06-20 HPO:skoehler OMIM 119915 CLUSTER HEADACHE, FAMILIAL HP:0000975 OMIM:119915 IEA O 2012-11-16 HPO:skoehler OMIM 119915 CLUSTER HEADACHE, FAMILIAL HP:0012199 OMIM:119915 TAS O 2013-03-12 HPO:probinson OMIM 119915 CLUSTER HEADACHE, FAMILIAL HP:0012531 TAS O 2015-12-30 HPO:skoehler OMIM 120000 COARCTATION OF AORTA HP:0001680 OMIM:120000 IEA O 2009-02-17 HPO:curators OMIM 120000 COARCTATION OF AORTA HP:0004383 OMIM:120000 IEA O 2009-02-17 HPO:curators OMIM 120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS HP:0000006 OMIM:120040 IEA I 2009-02-17 HPO:curators OMIM 120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS HP:0000365 OMIM:120040 IEA O 2009-02-17 HPO:curators OMIM 120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS HP:0000707 OMIM:120040 IEA O 2009-02-17 HPO:curators OMIM 120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS HP:0007834 OMIM:120040 IEA O 2009-02-17 HPO:curators OMIM 120050 %120050 COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S;;CB3S HP:0004429 OMIM:120050 IEA O 2013-01-09 HPO:skoehler OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0000006 OMIM:120100 TAS I 2009-02-17 HPO:probinson OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0000509 OMIM:120100 TAS O 2009-02-17 HPO:probinson OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0001917 OMIM:120100 TAS HP:0003584 HP:0040283 O 2009-02-17 HPO:probinson OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0001954 OMIM:120100 TAS O 2009-02-17 HPO:probinson OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0001974 OMIM:120100 TAS O 2010-06-20 HPO:skoehler OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0002315 OMIM:120100 TAS O 2009-02-17 HPO:probinson OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0002829 OMIM:120100 TAS O 2009-02-17 HPO:probinson OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0003326 OMIM:120100 TAS O 2009-02-17 HPO:probinson OMIM 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 HP:0003593 OMIM:120100 TAS C 2009-02-17 HPO:probinson OMIM 120200 COLOBOMA, OCULAR HP:0000006 OMIM:120200 IEA I 2009-02-17 HPO:curators OMIM 120200 COLOBOMA, OCULAR HP:0007748 OMIM:120200 IEA O 2009-02-17 HPO:curators OMIM 120300 COLOBOMA OF MACULA HP:0000006 OMIM:120300 TAS I 2009-02-17 HPO:probinson OMIM 120300 COLOBOMA OF MACULA HP:0001116 OMIM:120300 TAS O 2012-07-26 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0000003 OMIM:120330 TAS O 2012-07-16 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0000006 OMIM:120330 IEA I 2009-02-17 HPO:curators OMIM 120330 PAPILLORENAL SYNDROME HP:0000076 OMIM:120330 TAS O 2009-02-17 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0000085 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0000089 OMIM:120330 TAS O 2012-07-16 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0000093 OMIM:120330 TAS O 2009-02-17 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0000407 OMIM:120330 TAS O 2009-02-17 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0000480 OMIM:120330 IEA O 2009-02-17 HPO:curators OMIM 120330 PAPILLORENAL SYNDROME HP:0000518 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0000533 OMIM:120330 IEA O 2012-10-17 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0000541 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0000568 OMIM:120330 IEA O 2009-02-17 HPO:curators OMIM 120330 PAPILLORENAL SYNDROME HP:0000588 OMIM:120330 IEA O 2009-02-17 HPO:curators OMIM 120330 PAPILLORENAL SYNDROME HP:0000608 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0000787 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0000969 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0000974 OMIM:120330 IEA O 2014-04-13 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0000977 OMIM:120330 IEA O 2014-04-13 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0001144 OMIM:120330 IEA O 2009-02-17 HPO:curators OMIM 120330 PAPILLORENAL SYNDROME HP:0001249 OMIM:120330 IEA O 2009-02-17 HPO:curators OMIM 120330 PAPILLORENAL SYNDROME HP:0001250 OMIM:120330 TAS O 2009-02-17 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0001388 OMIM:120330 IEA O 2014-04-13 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0002171 OMIM:120330 IEA O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0003593 OMIM:120330 IEA C 2014-04-13 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0003774 OMIM:120330 IEA O 2009-02-17 HPO:curators OMIM 120330 PAPILLORENAL SYNDROME HP:0003774 OMIM:120330 TAS HP:0040282 O 2012-07-16 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0003812 OMIM:120330 IEA C 2014-04-13 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0004712 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0007099 OMIM:120330 TAS O 2009-02-17 HPO:probinson OMIM 120330 PAPILLORENAL SYNDROME HP:0011509 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0012019 OMIM:120330 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 120330 PAPILLORENAL SYNDROME HP:0025514 OMIM:120330 IEA O 2017-07-13 HPO:skoehler OMIM 120400 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME HP:0000006 OMIM:120400 IEA I 2009-02-17 HPO:curators OMIM 120400 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME HP:0000104 OMIM:120400 TAS O 2009-02-17 HPO:probinson OMIM 120400 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME HP:0000589 OMIM:120400 TAS O 2009-02-17 HPO:probinson OMIM 120400 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME HP:0005807 OMIM:120400 TAS O 2009-02-17 HPO:probinson OMIM 120400 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME HP:0005831 OMIM:120400 IEA O 2009-02-17 HPO:curators OMIM 120400 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME HP:0005848 OMIM:120400 IEA O 2012-11-16 HPO:skoehler OMIM 120400 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME HP:0009642 OMIM:120400 TAS O 2012-06-09 HPO:probinson OMIM 120400 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME HP:0009642 OMIM:120400 IEA O 2012-11-18 HPO:skoehler OMIM 120430 COLOBOMA OF OPTIC NERVEOPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED HP:0000006 OMIM:120430 IEA I 2009-02-17 HPO:curators OMIM 120430 COLOBOMA OF OPTIC NERVEOPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED HP:0000541 OMIM:120430 IEA O 2009-02-17 HPO:curators OMIM 120430 COLOBOMA OF OPTIC NERVEOPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED HP:0000588 OMIM:120430 IEA O 2009-02-17 HPO:curators OMIM 120433 #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION HP:0000006 OMIM:120433 IEA I 2014-05-04 HPO:skoehler OMIM 120433 #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION HP:0000175 OMIM:120433 IEA HP:0040283 O 2014-05-04 HPO:skoehler OMIM 120433 #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION HP:0000204 OMIM:120433 IEA HP:0040283 O 2014-05-04 HPO:skoehler OMIM 120433 #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION HP:0000508 OMIM:120433 IEA HP:0040283 O 2014-05-04 HPO:skoehler OMIM 120433 #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION HP:0000518 OMIM:120433 IEA HP:0040283 O 2014-05-04 HPO:skoehler OMIM 120433 #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION HP:0000568 OMIM:120433 IEA HP:0040283 O 2014-05-04 HPO:skoehler OMIM 120433 #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION HP:0000790 OMIM:120433 IEA HP:0040283 O 2014-05-04 HPO:skoehler OMIM 120433 #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION HP:0001249 OMIM:120433 IEA HP:0040283 O 2014-05-04 HPO:skoehler OMIM 120435 LYNCH SYNDROME I HP:0000006 OMIM:120435 TAS I 2009-02-17 HPO:skoehler OMIM 120435 LYNCH SYNDROME I HP:0003003 OMIM:120435 TAS O 2009-02-17 HPO:probinson OMIM 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION HP:0000006 OMIM:120440 TAS I 2009-02-17 HPO:skoehler OMIM 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION HP:0002584 OMIM:120440 TAS O 2014-01-01 HPO:probinson OMIM 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION HP:0012550 OMIM:120440 TAS O 2014-01-01 HPO:probinson OMIM 120450 COMEDONES, FAMILIAL DYSKERATOTIC HP:0000006 OMIM:120450 IEA I 2009-02-17 HPO:curators OMIM 120450 COMEDONES, FAMILIAL DYSKERATOTIC HP:0000951 OMIM:120450 IEA O 2009-02-17 HPO:curators OMIM 120500 COMMISSURAL LIP PITS HP:0000006 OMIM:120500 IEA I 2009-02-17 HPO:curators OMIM 120500 COMMISSURAL LIP PITS HP:0002710 OMIM:120500 IEA O 2009-02-17 HPO:curators OMIM 120500 COMMISSURAL LIP PITS HP:0004467 OMIM:120500 IEA O 2009-02-17 HPO:curators OMIM 120502 BRANCHIOOTIC SYNDROME 2 HP:0000006 OMIM:120502 TAS I 2009-02-17 HPO:skoehler OMIM 120502 BRANCHIOOTIC SYNDROME 2 HP:0000365 OMIM:120502 TAS O 2009-02-17 HPO:skoehler OMIM 120502 BRANCHIOOTIC SYNDROME 2 HP:0000377 OMIM:120502 TAS O 2012-08-01 HPO:skoehler OMIM 120502 BRANCHIOOTIC SYNDROME 2 HP:0002710 OMIM:120502 TAS O 2009-02-17 HPO:skoehler OMIM 120502 BRANCHIOOTIC SYNDROME 2 HP:0004467 OMIM:120502 TAS O 2009-02-17 HPO:skoehler OMIM 120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF HP:0000006 OMIM:120790 IEA I 2009-02-17 HPO:curators OMIM 120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF HP:0002725 OMIM:120790 IEA O 2009-02-17 HPO:curators OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0000006 OMIM:120970 TAS I 2009-02-17 HPO:probinson OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0000533 OMIM:120970 TAS O 2009-02-17 HPO:probinson OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0000548 OMIM:120970 TAS O 2009-02-17 HPO:probinson OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0000551 OMIM:120970 TAS O 2015-07-20 HPO:skoehler OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0000618 OMIM:120970 TAS O 2010-06-20 HPO:skoehler OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0000662 OMIM:120970 TAS O 2009-02-17 HPO:probinson OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0001133 OMIM:120970 TAS O 2015-07-20 HPO:probinson OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0007663 OMIM:120970 TAS O 2015-07-20 HPO:probinson OMIM 120970 #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2 HP:0007994 OMIM:120970 IEA O 2015-07-26 HPO:skoehler OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0000006 OMIM:121050 IEA I 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0000218 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0000248 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0000347 OMIM:121050 TAS HP:0040284 O 2009-02-17 HPO:probinson OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0000470 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0000545 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0000768 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0000938 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001083 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001166 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001181 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001270 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001519 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001629 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001631 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001634 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001643 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001647 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001653 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001762 OMIM:121050 IEA HP:0040284 O 2009-02-17 HPO:probinson OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0001840 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0002007 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0002616 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0002751 OMIM:121050 TAS HP:0003577 HP:0040284 O 2012-09-18 HPO:probinson OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0002987 OMIM:121050 TAS HP:0040284 O 2009-02-17 HPO:probinson OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0002999 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0003273 OMIM:121050 TAS HP:0040284 O 2009-02-17 HPO:probinson OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0005684 OMIM:121050 IEA O 2015-01-21 HPO:skoehler OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0006380 OMIM:121050 TAS HP:0040284 O 2009-02-17 HPO:probinson OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0008453 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0008962 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0009465 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0009901 OMIM:121050 TAS HP:0040284 O 2010-06-20 HPO:probinson OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0010499 OMIM:121050 IEA O 2010-06-18 HPO:skoehler OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0030799 OMIM:121050 IEA O 2017-07-13 HPO:skoehler OMIM 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9 HP:0100490 OMIM:121050 IEA O 2009-02-17 HPO:curators OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0000006 OMIM:121070 IEA I 2009-02-17 HPO:curators OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0000160 OMIM:121070 IEA O 2009-02-17 HPO:curators OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0000211 OMIM:121070 IEA O 2017-07-13 HPO:skoehler OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0000252 OMIM:121070 TAS O 2010-06-20 HPO:probinson OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0000347 OMIM:121070 IEA O 2009-02-17 HPO:curators OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0001762 OMIM:121070 IEA O 2009-02-17 HPO:curators OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0002804 OMIM:121070 IEA O 2015-01-19 HPO:skoehler OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0005684 OMIM:121070 TAS O 2009-02-17 HPO:probinson OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0009473 OMIM:121070 TAS O 2012-05-27 HPO:probinson OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0011234 OMIM:121070 TAS O 2009-02-17 HPO:probinson OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0040196 OMIM:121070 IEA O 2015-10-05 HPO:skoehler OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0100492 OMIM:121070 TAS O 2012-05-27 HPO:probinson OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0000006 OMIM:121200 TAS I 2009-02-17 HPO:probinson OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0000007 OMIM:121200 IEA HP:0040283 I 2012-11-16 HPO:skoehler OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0001263 OMIM:121200 TAS HP:0040283 O 2010-06-20 HPO:skoehler OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0001270 OMIM:121200 IEA HP:0040283 O 2012-11-16 HPO:skoehler OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0001425 OMIM:121200 IEA I 2012-11-16 HPO:skoehler OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0002069 OMIM:121200 TAS O 2009-02-17 HPO:probinson OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0002266 OMIM:121200 TAS O 2009-02-17 HPO:probinson OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0002373 OMIM:121200 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0002411 OMIM:121200 TAS O 2010-06-18 HPO:skoehler OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0003623 OMIM:121200 TAS C 2010-06-19 HPO:skoehler OMIM 121200 #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED HP:0003812 OMIM:121200 IEA C 2012-10-17 HPO:skoehler OMIM 121201 EPILEPSY, BENIGN NEONATAL, 2 HP:0000006 OMIM:121201 TAS I 2009-02-17 HPO:probinson OMIM 121201 EPILEPSY, BENIGN NEONATAL, 2 HP:0002069 OMIM:121201 TAS HP:0003623 O 2009-02-17 HPO:probinson OMIM 121201 EPILEPSY, BENIGN NEONATAL, 2 HP:0002266 OMIM:121201 TAS O 2009-02-17 HPO:probinson OMIM 121210 %121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE; 1 HP:0000006 OMIM:121210 IEA I 2009-02-17 HPO:curators OMIM 121210 %121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE; 1 HP:0001425 OMIM:121210 IEA I 2012-10-17 HPO:skoehler OMIM 121210 %121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE; 1 HP:0002069 OMIM:121210 IEA O 2009-02-17 HPO:curators OMIM 121210 %121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE; 1 HP:0002373 OMIM:121210 IEA O 2009-02-17 HPO:curators OMIM 121210 %121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE; 1 HP:0010818 OMIM:121210 IEA O 2009-02-17 HPO:curators OMIM 121210 %121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE; 1 HP:0010819 OMIM:121210 IEA O 2009-02-17 HPO:curators OMIM 121210 %121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE; 1 HP:0011463 OMIM:121210 IEA C 2009-02-17 HPO:curators OMIM 121270 COPPER DEFICIENCY, FAMILIAL BENIGN HP:0000924 OMIM:121270 IEA O 2009-02-17 HPO:curators OMIM 121270 COPPER DEFICIENCY, FAMILIAL BENIGN HP:0001051 OMIM:121270 IEA O 2009-02-17 HPO:curators OMIM 121270 COPPER DEFICIENCY, FAMILIAL BENIGN HP:0001250 OMIM:121270 IEA O 2009-02-17 HPO:curators OMIM 121270 COPPER DEFICIENCY, FAMILIAL BENIGN HP:0001508 OMIM:121270 IEA O 2009-02-17 HPO:curators OMIM 121270 COPPER DEFICIENCY, FAMILIAL BENIGN HP:0001903 OMIM:121270 IEA O 2009-02-17 HPO:curators OMIM 121270 COPPER DEFICIENCY, FAMILIAL BENIGN HP:0002212 OMIM:121270 TAS O 2009-02-17 HPO:probinson OMIM 121270 COPPER DEFICIENCY, FAMILIAL BENIGN HP:0002234 OMIM:121270 TAS O 2009-02-17 HPO:probinson OMIM 121270 COPPER DEFICIENCY, FAMILIAL BENIGN HP:0011967 OMIM:121270 TAS O 2012-07-18 HPO:probinson OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0000006 OMIM:121300 IEA I 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0000716 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0000738 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0000739 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0000822 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0000952 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0000992 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0001289 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0001649 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0001744 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0001939 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0002013 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0002014 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0002019 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0002027 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0002203 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0002240 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0003489 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0003829 OMIM:121300 IEA C 2012-10-17 HPO:skoehler OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0004804 OMIM:121300 IEA O 2009-02-17 HPO:curators OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0009830 OMIM:121300 TAS O 2009-02-17 HPO:probinson OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0011999 OMIM:121300 IEA O 2012-11-16 HPO:skoehler OMIM 121300 #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED HP:0100785 OMIM:121300 IEA O 2012-11-16 HPO:skoehler OMIM 121350 CORACOCLAVICULAR JOINT, ANOMALOUS HP:0000006 OMIM:121350 IEA I 2009-02-17 HPO:curators OMIM 121350 CORACOCLAVICULAR JOINT, ANOMALOUS HP:0001367 OMIM:121350 IEA O 2009-02-17 HPO:curators OMIM 121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS HP:0000006 OMIM:121390 IEA I 2009-02-17 HPO:curators OMIM 121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS HP:0000505 OMIM:121390 IEA O 2009-02-17 HPO:curators OMIM 121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS HP:0001134 OMIM:121390 IEA O 2009-02-17 HPO:curators OMIM 121400 %121400 CORNEA PLANA 1; CNA1 HP:0000006 OMIM:121400 IEA I 2012-11-16 HPO:skoehler OMIM 121400 %121400 CORNEA PLANA 1; CNA1 HP:0000007 OMIM:121400 IEA I 2012-11-18 HPO:skoehler OMIM 121400 %121400 CORNEA PLANA 1; CNA1 HP:0007720 OMIM:121400 IEA O 2009-02-17 HPO:curators OMIM 121450 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS;;BAND KERATOPATHY WITH DEAFNESS HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 121450 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS;;BAND KERATOPATHY WITH DEAFNESS HP:0000365 IEA O 2009-02-17 HPO:curators OMIM 121450 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS;;BAND KERATOPATHY WITH DEAFNESS HP:0000585 IEA O 2009-02-17 HPO:curators OMIM 121450 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS;;BAND KERATOPATHY WITH DEAFNESS HP:0200066 OMIM:121450 IEA O 2013-05-31 HPO:skoehler OMIM 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER HP:0000006 OMIM:121800 IEA I 2009-02-17 HPO:curators OMIM 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER HP:0001131 OMIM:121800 IEA O 2015-01-19 HPO:skoehler OMIM 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER HP:0007760 OMIM:121800 IEA O 2009-02-17 HPO:curators OMIM 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE HP:0000006 OMIM:121820 IEA I 2009-02-17 HPO:curators OMIM 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE HP:0000495 OMIM:121820 IEA O 2010-06-18 HPO:skoehler OMIM 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE HP:0001131 OMIM:121820 IEA O 2015-01-19 HPO:skoehler OMIM 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE HP:0007690 OMIM:121820 IEA O 2009-02-17 HPO:curators OMIM 121850 CORNEAL FLECK DYSTROPHY HP:0000006 OMIM:121850 IEA I 2009-02-17 HPO:curators OMIM 121850 CORNEAL FLECK DYSTROPHY HP:0000613 OMIM:121850 IEA O 2010-06-20 HPO:skoehler OMIM 121850 CORNEAL FLECK DYSTROPHY HP:0007962 OMIM:121850 IEA O 2009-02-17 HPO:curators OMIM 121900 GROENOUW TYPE I CORNEAL DYSTROPHY HP:0000006 OMIM:121900 IEA I 2009-02-17 HPO:curators OMIM 121900 GROENOUW TYPE I CORNEAL DYSTROPHY HP:0000486 OMIM:121900 IEA O 2009-02-17 HPO:curators OMIM 121900 GROENOUW TYPE I CORNEAL DYSTROPHY HP:0000518 OMIM:121900 IEA O 2009-02-17 HPO:curators OMIM 121900 GROENOUW TYPE I CORNEAL DYSTROPHY HP:0007802 OMIM:121900 IEA O 2009-02-17 HPO:curators OMIM 121900 GROENOUW TYPE I CORNEAL DYSTROPHY HP:0007809 OMIM:121900 IEA O 2009-02-17 HPO:curators OMIM 121900 GROENOUW TYPE I CORNEAL DYSTROPHY HP:0007827 OMIM:121900 IEA O 2009-02-17 HPO:curators OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0000006 PMID:26749309 PCS I 2009-02-17 HPO:probinson OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0000501 PMID:26749309 PCS O 2009-02-17 HPO:probinson OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0000585 PMID:26749309 PCS O 2017-06-14 HPO:probinson OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0000613 PMID:26749309 PCS O 2017-06-14 HPO:probinson OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0001089 OMIM:122000 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0007915 PMID:26749309 PCS O 2009-02-17 HPO:probinson OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0009918 OMIM:122000 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0009926 PMID:26749309 PCS O 2017-06-14 HPO:probinson OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0011483 PMID:26749309 PCS O 2017-06-14 HPO:probinson OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0011490 PMID:26749309 PCS O 2017-06-14 HPO:probinson OMIM 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 HP:0025358 PMID:26749309 PCS O 2017-06-14 HPO:probinson OMIM 122100 CORNEAL DYSTROPHY, MEESMANN HP:0000006 OMIM:122100 TAS I 2009-02-17 HPO:probinson OMIM 122100 CORNEAL DYSTROPHY, MEESMANN HP:0000613 OMIM:122100 IEA O 2017-07-13 HPO:skoehler OMIM 122100 CORNEAL DYSTROPHY, MEESMANN HP:0001131 OMIM:122100 TAS O 2009-02-17 HPO:probinson OMIM 122100 CORNEAL DYSTROPHY, MEESMANN HP:0003680 OMIM:122100 TAS C 2009-02-17 HPO:probinson OMIM 122100 CORNEAL DYSTROPHY, MEESMANN HP:0007663 OMIM:122100 IEA O 2017-07-13 HPO:skoehler OMIM 122100 CORNEAL DYSTROPHY, MEESMANN HP:0007856 OMIM:122100 TAS O 2009-02-17 HPO:probinson OMIM 122100 CORNEAL DYSTROPHY, MEESMANN HP:0009926 OMIM:122100 IEA O 2017-07-13 HPO:skoehler OMIM 122200 CORNEAL DYSTROPHY, LATTICE TYPE I HP:0000006 OMIM:122200 IEA I 2009-02-17 HPO:curators OMIM 122200 CORNEAL DYSTROPHY, LATTICE TYPE I HP:0000495 OMIM:122200 IEA O 2009-02-17 HPO:curators OMIM 122200 CORNEAL DYSTROPHY, LATTICE TYPE I HP:0000529 OMIM:122200 IEA O 2009-02-17 HPO:curators OMIM 122200 CORNEAL DYSTROPHY, LATTICE TYPE I HP:0001149 OMIM:122200 TAS O 2009-02-17 HPO:probinson OMIM 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY HP:0000006 OMIM:122400 IEA I 2009-02-17 HPO:curators OMIM 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY HP:0000505 OMIM:122400 IEA O 2017-07-13 HPO:skoehler OMIM 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY HP:0000613 OMIM:122400 IEA O 2015-12-30 HPO:skoehler OMIM 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY HP:0009926 OMIM:122400 IEA O 2015-12-30 HPO:skoehler OMIM 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY HP:0012531 OMIM:122400 IEA O 2015-12-30 HPO:skoehler OMIM 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY HP:0200020 OMIM:122400 IEA O 2009-02-17 HPO:skoehler OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000006 OMIM:122430 IEA I 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000272 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000316 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000369 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000407 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000463 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000491 OMIM:122430 IEA O 2010-06-20 HPO:skoehler OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000505 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0000582 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0001249 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0001508 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0001643 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0002007 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0004322 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0005280 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0007663 OMIM:122430 IEA O 2015-07-26 HPO:skoehler OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0007980 OMIM:122430 IEA O 2009-02-17 HPO:curators OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0011229 OMIM:122430 IEA O 2013-05-31 HPO:skoehler OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0011800 OMIM:122430 IEA O 2013-11-28 HPO:skoehler OMIM 122430 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME HP:0012155 OMIM:122430 IEA O 2015-01-27 HPO:skoehler OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0000006 OMIM:122440 IEA I 2009-02-17 HPO:curators OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0000613 OMIM:122440 IEA O 2009-02-17 HPO:curators OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0000972 OMIM:122440 IEA O 2009-02-17 HPO:curators OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0001019 OMIM:122440 IEA O 2009-02-17 HPO:curators OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0001131 OMIM:122440 IEA O 2009-02-17 HPO:curators OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0001156 OMIM:122440 IEA O 2014-11-26 HPO:skoehler OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0001622 OMIM:122440 IEA O 2009-02-17 HPO:curators OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0001806 OMIM:122440 IEA O 2010-06-20 HPO:skoehler OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0004322 OMIM:122440 IEA O 2009-02-17 HPO:curators OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0009882 OMIM:122440 IEA O 2009-02-17 HPO:curators OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME HP:0011085 OMIM:122440 IEA O 2017-07-13 HPO:skoehler OMIM 122450 %122450 CORNEAL HYPESTHESIA, FAMILIAL;;TRIGEMINAL ANESTHESIA, FAMILIAL HP:0000006 OMIM:122450 IEA I 2009-02-17 HPO:curators OMIM 122450 %122450 CORNEAL HYPESTHESIA, FAMILIAL;;TRIGEMINAL ANESTHESIA, FAMILIAL HP:0000495 OMIM:122450 IEA O 2009-02-17 HPO:curators OMIM 122450 %122450 CORNEAL HYPESTHESIA, FAMILIAL;;TRIGEMINAL ANESTHESIA, FAMILIAL HP:0000924 OMIM:122450 IEA O 2009-02-17 HPO:curators OMIM 122450 %122450 CORNEAL HYPESTHESIA, FAMILIAL;;TRIGEMINAL ANESTHESIA, FAMILIAL HP:0012155 OMIM:122450 IEA O 2013-01-11 HPO:skoehler OMIM 122455 CORONARY ARTERY DISSECTION, SPONTANEOUS HP:0000006 OMIM:122455 IEA I 2009-02-17 HPO:curators OMIM 122455 CORONARY ARTERY DISSECTION, SPONTANEOUS HP:0001939 OMIM:122455 IEA O 2009-02-17 HPO:curators OMIM 122455 CORONARY ARTERY DISSECTION, SPONTANEOUS HP:0006702 OMIM:122455 IEA O 2009-02-17 HPO:curators OMIM 122460 CORONAVIRUS 229E SUSCEPTIBILITY HP:0000006 OMIM:122460 IEA I 2009-02-17 HPO:curators OMIM 122460 CORONAVIRUS 229E SUSCEPTIBILITY HP:0005396 OMIM:122460 IEA O 2009-02-17 HPO:curators OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000006 OMIM:122470 IEA I 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000023 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000028 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000047 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000050 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000059 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000076 OMIM:122470 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000086 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000089 OMIM:122470 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000093 OMIM:122470 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000107 OMIM:122470 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000175 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000204 OMIM:122470 TAS O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000219 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000219 OMIM:122470 TAS O 2013-12-18 HPO:skoehler OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000248 OMIM:122470 TAS O 2012-05-01 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000252 OMIM:122470 TAS O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000343 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000347 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000369 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000405 OMIM:122470 TAS O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000407 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000453 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000463 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000470 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000482 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000483 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000486 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000508 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000520 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000527 OMIM:122470 TAS O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000545 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000588 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000639 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000648 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000664 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000684 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000687 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000708 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000750 OMIM:122470 TAS O 2012-10-17 HPO:skoehler OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000776 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000879 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000954 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0000965 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001007 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001180 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001249 OMIM:122470 TAS O 2012-10-17 HPO:skoehler OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001250 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001276 OMIM:122470 TAS O 2012-10-17 HPO:skoehler OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001377 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001511 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001551 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001612 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001629 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0001873 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002020 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002021 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002036 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002090 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002162 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002553 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002557 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002705 OMIM:122470 IEA O 2015-12-30 HPO:skoehler OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002714 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002750 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002983 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002984 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0002987 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0003083 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0003083 OMIM:122470 TAS O 2013-12-18 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0003745 OMIM:122470 IEA I 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0003812 OMIM:122470 IEA C 2014-01-28 HPO:skoehler OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0003997 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0004209 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0004322 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0004691 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0004785 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0005217 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0005280 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0005565 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0005815 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0007665 OMIM:122470 TAS O 2012-03-02 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0009623 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0009829 OMIM:122470 IEA O 2009-02-17 HPO:probinson OMIM 122470 #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS HP:0100716 OMIM:122470 TAS O 2012-10-17 HPO:skoehler OMIM 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT HP:0000006 OMIM:122580 IEA I 2009-02-17 HPO:curators OMIM 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT HP:0000782 OMIM:122580 IEA O 2009-02-17 HPO:skoehler OMIM 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT HP:0001435 OMIM:122580 IEA O 2009-02-17 HPO:skoehler OMIM 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT HP:0200021 OMIM:122580 IEA O 2009-02-17 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0000006 pmid:23335591 PCS I 2009-02-17 HPO:probinson OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0000007 OMIM:122600 IEA I 2017-07-13 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0000470 OMIM:122600 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0000768 OMIM:122600 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0000913 OMIM:122600 TAS O 2009-02-17 HPO:probinson OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0000921 OMIM:122600 IEA O 2017-07-13 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0002650 pmid:23335591 PCS O 2015-02-21 HPO:probinson OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0002937 pmid:23335591 PCS O 2009-02-17 HPO:probinson OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0002948 pmid:23335591 PCS O 2009-02-17 HPO:probinson OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0003316 OMIM:122600 IEA O 2017-07-13 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0003396 OMIM:122600 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0003419 OMIM:122600 TAS O 2010-06-20 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0003510 OMIM:122600 IEA O 2015-02-22 HPO:skoehler OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0003521 pmid:23335591 PCS O 2015-02-21 HPO:probinson OMIM 122600 SPONDYLOCOSTAL DYSOSTOSIS 5 HP:0005815 OMIM:122600 IEA O 2017-07-13 HPO:skoehler OMIM 122700 COUMARIN RESISTANCE HP:0000006 OMIM:122700 IEA I 2009-02-17 HPO:curators OMIM 122700 COUMARIN RESISTANCE HP:0001871 OMIM:122700 IEA O 2009-02-17 HPO:curators OMIM 122700 COUMARIN RESISTANCE HP:0001939 OMIM:122700 IEA O 2009-02-17 HPO:curators OMIM 122750 COXA VARA HP:0000006 OMIM:122750 IEA I 2009-02-17 HPO:curators OMIM 122750 COXA VARA HP:0002812 OMIM:122750 IEA O 2009-02-17 HPO:curators OMIM 122780 COXOAURICULAR SYNDROME HP:0000365 OMIM:122780 IEA O 2009-02-17 HPO:curators OMIM 122780 COXOAURICULAR SYNDROME HP:0002827 OMIM:122780 IEA O 2009-02-17 HPO:curators OMIM 122780 COXOAURICULAR SYNDROME HP:0004322 OMIM:122780 IEA O 2009-02-17 HPO:curators OMIM 122780 COXOAURICULAR SYNDROME HP:0008551 OMIM:122780 IEA O 2009-02-17 HPO:curators OMIM 122850 CRANIOACROFACIAL SYNDROME HP:0000006 OMIM:122850 IEA I 2009-02-17 HPO:curators OMIM 122850 CRANIOACROFACIAL SYNDROME HP:0000275 OMIM:122850 TAS O 2013-04-08 HPO:probinson OMIM 122850 CRANIOACROFACIAL SYNDROME HP:0001629 OMIM:122850 IEA O 2009-02-17 HPO:curators OMIM 122850 CRANIOACROFACIAL SYNDROME HP:0001642 OMIM:122850 IEA O 2009-02-17 HPO:curators OMIM 122850 CRANIOACROFACIAL SYNDROME HP:0005679 OMIM:122850 IEA O 2009-02-17 HPO:curators OMIM 122850 CRANIOACROFACIAL SYNDROME HP:0005922 OMIM:122850 TAS O 2013-04-08 HPO:probinson OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000006 OMIM:122860 TAS I 2012-04-30 HPO:probinson OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000256 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000303 OMIM:122860 IEA O 2017-07-13 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000316 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000365 OMIM:122860 TAS O 2012-04-30 HPO:probinson OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000431 OMIM:122860 TAS O 2013-08-11 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000452 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000529 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000648 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000900 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001085 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001349 OMIM:122860 TAS O 2012-04-30 HPO:probinson OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0002315 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0002516 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0003034 OMIM:122860 TAS O 2012-04-30 HPO:probinson OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0003155 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0003165 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0003593 OMIM:122860 IEA C 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0003676 OMIM:122860 IEA C 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004322 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004493 OMIM:122860 TAS O 2012-04-30 HPO:probinson OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0005280 OMIM:122860 TAS O 2013-08-11 HPO:skoehler OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0005464 OMIM:122860 TAS O 2012-04-30 HPO:probinson OMIM 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0011120 OMIM:122860 IEA O 2012-10-17 HPO:skoehler OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0000006 OMIM:122880 IEA I 2009-02-17 HPO:curators OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0000272 OMIM:122880 IEA O 2009-02-17 HPO:curators OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0000316 OMIM:122880 IEA O 2009-02-17 HPO:curators OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0000327 OMIM:122880 IEA O 2009-02-17 HPO:curators OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0000407 OMIM:122880 IEA O 2009-02-17 HPO:curators OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0003196 OMIM:122880 IEA O 2009-02-17 HPO:curators OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0009487 OMIM:122880 IEA O 2015-12-30 HPO:skoehler OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0009487 TAS O 2015-12-30 HPO:skoehler OMIM 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS HP:0012368 OMIM:122880 IEA O 2014-11-27 HPO:skoehler OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0000006 OMIM:122900 IEA I 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0000248 OMIM:122900 IEA O 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0000252 OMIM:122900 IEA O 2015-07-26 HPO:skoehler OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0000520 OMIM:122900 IEA O 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0000767 OMIM:122900 IEA O 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0001156 OMIM:122900 IEA O 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0002751 OMIM:122900 IEA O 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0002983 OMIM:122900 IEA O 2012-10-17 HPO:skoehler OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0004322 OMIM:122900 IEA O 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0004439 OMIM:122900 IEA O 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0005665 OMIM:122900 IEA O 2009-02-17 HPO:curators OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA HP:0010539 OMIM:122900 IEA O 2017-07-13 HPO:skoehler OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000006 OMIM:123000 IEA I 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000256 OMIM:123000 IEA O 2012-10-17 HPO:skoehler OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000303 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000316 OMIM:123000 IEA O 2012-10-17 HPO:skoehler OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000410 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000692 OMIM:123000 TAS O 2015-03-22 HPO:probinson OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0000925 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001739 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0001742 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0002644 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0002694 OMIM:123000 TAS O 2009-02-17 HPO:probinson OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0003016 OMIM:123000 TAS O 2009-02-17 HPO:probinson OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004407 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0004975 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0005450 OMIM:123000 TAS O 2015-03-22 HPO:probinson OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0006384 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT HP:0010628 OMIM:123000 IEA O 2009-02-17 HPO:curators OMIM 123050 123050 CRANIORHINY HP:0000006 OMIM:123050 IEA I 2009-02-17 HPO:curators OMIM 123050 123050 CRANIORHINY HP:0000262 OMIM:123050 IEA O 2009-02-17 HPO:curators OMIM 123050 123050 CRANIORHINY HP:0000263 OMIM:123050 TAS O 2012-10-17 HPO:skoehler OMIM 123050 123050 CRANIORHINY HP:0000445 OMIM:123050 TAS O 2012-10-17 HPO:skoehler OMIM 123050 123050 CRANIORHINY HP:0000463 OMIM:123050 TAS O 2009-02-17 HPO:skoehler OMIM 123050 123050 CRANIORHINY HP:0001363 OMIM:123050 IEA O 2009-02-17 HPO:curators OMIM 123100 CRANIOSYNOSTOSIS 1 HP:0000006 OMIM:123100 IEA I 2009-02-17 HPO:probinson OMIM 123100 CRANIOSYNOSTOSIS 1 HP:0000262 OMIM:123100 IEA O 2009-02-17 HPO:probinson OMIM 123100 CRANIOSYNOSTOSIS 1 HP:0000263 OMIM:123100 TAS O 2012-10-17 HPO:skoehler OMIM 123100 CRANIOSYNOSTOSIS 1 HP:0000268 OMIM:123100 TAS O 2009-02-17 HPO:probinson OMIM 123100 CRANIOSYNOSTOSIS 1 HP:0001363 OMIM:123100 TAS O 2009-02-17 HPO:probinson OMIM 123100 CRANIOSYNOSTOSIS 1 HP:0030799 OMIM:123100 IEA O 2017-07-13 HPO:skoehler OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0000006 OMIM:123150 IEA I 2009-02-17 HPO:curators OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0000272 OMIM:123150 IEA O 2009-02-17 HPO:curators OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0001363 OMIM:123150 IEA O 2009-02-17 HPO:curators OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0001783 OMIM:123150 TAS O 2012-05-08 HPO:probinson OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0004691 OMIM:123150 IEA O 2009-02-17 HPO:curators OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0008080 OMIM:123150 TAS O 2012-06-08 HPO:probinson OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0008122 OMIM:123150 IEA O 2009-02-17 HPO:curators OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0010055 OMIM:123150 TAS O 2012-06-08 HPO:probinson OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0010743 OMIM:123150 TAS O 2012-05-08 HPO:probinson OMIM 123150 #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES HP:0011800 OMIM:123150 IEA O 2013-11-28 HPO:skoehler OMIM 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS HP:0000006 OMIM:123155 TAS I 2009-02-17 HPO:skoehler OMIM 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS HP:0000238 OMIM:123155 TAS O 2009-02-17 HPO:skoehler OMIM 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS HP:0001305 OMIM:123155 TAS O 2009-02-17 HPO:skoehler OMIM 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS HP:0004442 OMIM:123155 TAS O 2009-02-17 HPO:skoehler OMIM 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS HP:0007291 OMIM:123155 TAS O 2009-02-17 HPO:skoehler OMIM 123270 123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE HP:0012113 OMIM:123270 IEA O 2013-01-09 HPO:skoehler OMIM 123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM HP:0000006 OMIM:123320 IEA I 2009-02-17 HPO:curators OMIM 123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM HP:0003236 OMIM:123320 IEA O 2009-02-17 HPO:curators OMIM 123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM HP:0003710 OMIM:123320 IEA O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000006 OMIM:123400 TAS I 2009-02-17 HPO:probinson OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000505 OMIM:123400 TAS O 2015-02-01 HPO:probinson OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000605 OMIM:123400 TAS O 2009-02-17 HPO:probinson OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000716 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000726 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000737 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000738 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000739 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000741 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000746 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0000751 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0001269 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0001289 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0001336 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0002066 OMIM:123400 TAS O 2009-02-17 HPO:probinson OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0002354 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0002381 OMIM:123400 TAS O 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0002922 OMIM:123400 TAS HP:0040283 O 2015-02-01 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0003678 OMIM:123400 TAS C 2009-02-17 HPO:curators OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0005327 OMIM:123400 TAS O 2009-02-17 HPO:probinson OMIM 123400 CREUTZFELDT-JAKOB DISEASE HP:0007076 OMIM:123400 TAS O 2009-02-17 HPO:probinson OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000023 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000028 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000047 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000077 PMID:16953888;PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000179 PMID:16953888 PCS HP:0003621 O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000193 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000202 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000218 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000252 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000273 PMID:8957962 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000275 PMID:16953888 PCS HP:0003621 O 2012-05-01 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000276 PMID:16953888 PCS HP:0003621 O 2012-05-01 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000286 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000308 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000311 ISBN-13:978-0721606156;PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000316 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000322 PMID:16953888 PCS HP:0003621 O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000324 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000336 PMID:16953888 PCS HP:0003621 O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000365 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000369 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000377 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000384 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000402 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000431 PMID:1695388 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000470 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000486 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000494 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000518 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000545 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000648 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000717 PMID:18564888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000718 PMID:11869383 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000733 PMID:11869383 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000736 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000739 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000742 PMID:8957962 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000750 PMID:10355811 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000752 PMID:16953888;PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0000954 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001042 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001159 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001249 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001276 PMID:20038906 PCS HP:0003621 O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001319 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001510 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001518 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001540 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001763 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0001840 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0002020 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0002216 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0002355 PMID:8957962 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0002650 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0002714 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0002795 PMID:20038906 PCS HP:0003623 O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0003745 ISBN-13:978-0721606156 PCS I 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0005437 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0008872 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0009102 PMID:16953888 PCS HP:0003621 O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0010049 PMID:16953888 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0010529 PMID:8957962 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0010743 PMID:16953888 PCS HP:0003621 O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0010780 PMID:20038906 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0010865 PMID:8957962 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0030680 ISBN-13:978-0721606156 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0100024 PMID:8957962 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0100025 PMID:8957962 PCS O 2012-04-24 HPO:curators OMIM 123450 CRI-DU-CHAT SYNDROME HP:0200046 PMID:1695388 PCS O 2012-04-24 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000006 OMIM:123500 IEA I 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000248 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000303 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000316 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000327 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000405 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000413 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000486 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000505 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000509 OMIM:123500 TAS O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000586 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000648 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0000678 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0001249 OMIM:123500 TAS HP:0040283 O 2009-02-17 HPO:skoehler OMIM 123500 CROUZON SYNDROME HP:0001250 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0001739 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0002007 OMIM:123500 PCS O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0003319 OMIM:123500 IEA O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0004439 OMIM:123500 IEA O 2015-01-19 HPO:skoehler OMIM 123500 CROUZON SYNDROME HP:0004440 OMIM:123500 PCS O 2009-02-17 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0004442 OMIM:123500 PCS O 2012-02-24 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0004443 OMIM:123500 PCS O 2012-02-24 HPO:curators OMIM 123500 CROUZON SYNDROME HP:0010535 OMIM:123500 IEA O 2012-10-17 HPO:skoehler OMIM 123500 CROUZON SYNDROME HP:0100621 OMIM:123500 IEA O 2017-07-13 HPO:skoehler OMIM 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY HP:0000006 OMIM:123540 IEA I 2009-02-17 HPO:curators OMIM 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY HP:0000790 OMIM:123540 IEA O 2009-02-17 HPO:curators OMIM 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY HP:0001063 OMIM:123540 TAS O 2009-02-17 HPO:probinson OMIM 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY HP:0008695 OMIM:123540 IEA O 2009-02-17 HPO:curators OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0000006 OMIM:123550 IEA I 2009-02-17 HPO:curators OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0000093 OMIM:123550 IEA O 2009-02-17 HPO:curators OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0000790 OMIM:123550 IEA O 2009-02-17 HPO:curators OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0000822 OMIM:123550 IEA O 2009-02-17 HPO:curators OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0001871 OMIM:123550 IEA O 2009-02-17 HPO:curators OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0003259 OMIM:123550 IEA O 2009-02-17 HPO:curators OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0012050 OMIM:123550 TAS O 2009-02-17 HPO:skoehler OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0012622 OMIM:123550 IEA O 2014-05-04 HPO:skoehler OMIM 123550 %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME HP:0100778 OMIM:123550 IEA O 2012-10-17 HPO:skoehler OMIM 123557 CRYPTOTIA, FAMILIAL HP:0000006 OMIM:123557 IEA I 2009-02-17 HPO:curators OMIM 123557 CRYPTOTIA, FAMILIAL HP:0011252 OMIM:123557 IEA O 2015-01-27 HPO:skoehler OMIM 123560 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0000006 OMIM:123560 TAS I 2009-02-17 HPO:probinson OMIM 123560 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0000041 OMIM:123560 TAS O 2009-02-17 HPO:probinson OMIM 123560 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0000048 OMIM:123560 TAS O 2009-02-17 HPO:probinson OMIM 123560 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0001800 OMIM:123560 TAS O 2009-02-17 HPO:probinson OMIM 123560 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0005872 OMIM:123560 TAS O 2009-02-17 HPO:probinson OMIM 123560 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME HP:0008551 OMIM:123560 TAS O 2009-02-17 HPO:probinson OMIM 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED HP:0000006 OMIM:123570 IEA I 2009-02-17 HPO:curators OMIM 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED HP:0000501 OMIM:123570 IEA O 2009-02-17 HPO:curators OMIM 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED HP:0000568 OMIM:123570 IEA O 2009-02-17 HPO:curators OMIM 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED HP:0001126 OMIM:123570 IEA O 2009-02-17 HPO:curators OMIM 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED HP:0009755 OMIM:123570 IEA O 2009-02-17 HPO:curators OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0000006 OMIM:123700 TAS I 2009-02-17 HPO:probinson OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0000023 OMIM:123700 IEA O 2009-02-17 HPO:curators OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0000271 OMIM:123700 IEA O 2009-02-17 HPO:curators OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0001425 OMIM:123700 IEA I 2012-10-17 HPO:skoehler OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0001582 OMIM:123700 IEA O 2009-02-17 HPO:curators OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0001653 OMIM:123700 TAS O 2009-02-17 HPO:curators OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0001659 OMIM:123700 TAS O 2009-02-17 HPO:curators OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0002097 OMIM:123700 TAS O 2009-02-17 HPO:curators OMIM 123700 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 HP:0007495 OMIM:123700 TAS O 2012-07-25 HPO:probinson OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000006 OMIM:123790 IEA I 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000048 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000189 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000238 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000272 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000316 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000368 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000452 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000453 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000494 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000520 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0000956 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0001263 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0001274 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0001363 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0001377 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0001545 OMIM:123790 TAS O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0001792 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0002098 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0002676 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0003246 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0004450 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0007517 OMIM:123790 IEA O 2009-02-17 HPO:curators OMIM 123790 #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON HP:0011800 OMIM:123790 IEA O 2013-11-28 HPO:skoehler OMIM 123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE HP:0000006 OMIM:123880 IEA I 2009-02-17 HPO:curators OMIM 123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE HP:0002833 OMIM:123880 IEA O 2015-01-27 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0000007 OMIM:124000 IEA I 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0000365 OMIM:124000 IEA HP:0040283 O 2013-05-03 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0000510 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0000518 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0000712 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0000716 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0000738 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001249 OMIM:124000 IEA O 2010-06-18 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001250 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001251 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001257 OMIM:124000 IEA O 2013-05-03 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001263 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001272 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001290 OMIM:124000 IEA O 2017-07-13 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001324 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001347 OMIM:124000 IEA O 2013-05-03 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001396 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001410 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001414 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001427 OMIM:124000 IEA I 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001508 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001639 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001942 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001943 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001970 OMIM:124000 IEA O 2013-05-03 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0002059 OMIM:124000 TAS O 2012-10-17 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0002151 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0002299 OMIM:124000 TAS O 2012-10-17 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0002353 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0002910 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0003128 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0003200 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0003201 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0003256 OMIM:124000 TAS O 2009-02-17 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0003355 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0003546 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0003593 OMIM:124000 IEA C 2013-05-03 HPO:skoehler OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0004298 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0006558 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0006789 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0008872 OMIM:124000 IEA O 2009-02-17 HPO:curators OMIM 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0030151 OMIM:124000 IEA O 2015-01-04 HPO:skoehler OMIM 124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 HP:0000006 OMIM:124060 IEA I 2009-02-17 HPO:curators OMIM 124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 HP:0001939 OMIM:124060 IEA O 2009-02-17 HPO:curators OMIM 124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY HP:0000112 OMIM:124100 IEA O 2010-06-20 HPO:skoehler OMIM 124200 DARIER-WHITE DISEASE HP:0000006 OMIM:124200 IEA I 2009-02-17 HPO:curators OMIM 124200 DARIER-WHITE DISEASE HP:0000989 OMIM:124200 TAS O 2009-02-17 HPO:probinson OMIM 124200 DARIER-WHITE DISEASE HP:0001034 OMIM:124200 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 124200 DARIER-WHITE DISEASE HP:0001250 OMIM:124200 IEA O 2009-02-17 HPO:curators OMIM 124200 DARIER-WHITE DISEASE HP:0001256 OMIM:124200 IEA O 2009-02-17 HPO:curators OMIM 124200 DARIER-WHITE DISEASE HP:0001807 OMIM:124200 IEA O 2009-02-17 HPO:curators OMIM 124200 DARIER-WHITE DISEASE HP:0007302 OMIM:124200 IEA O 2009-02-17 HPO:curators OMIM 124200 DARIER-WHITE DISEASE HP:0008410 OMIM:124200 IEA O 2009-02-17 HPO:curators OMIM 124200 DARIER-WHITE DISEASE HP:0010610 OMIM:124200 IEA O 2010-06-18 HPO:skoehler OMIM 124200 DARIER-WHITE DISEASE HP:0010612 OMIM:124200 IEA O 2010-06-18 HPO:skoehler OMIM 124200 DARIER-WHITE DISEASE HP:0011801 OMIM:124200 TAS O 2013-08-11 HPO:probinson OMIM 124200 DARIER-WHITE DISEASE HP:0100753 OMIM:124200 TAS O 2012-10-17 HPO:skoehler OMIM 124200 DARIER-WHITE DISEASE HP:0200016 OMIM:124200 IEA O 2010-06-20 HPO:skoehler OMIM 124300 DARWINIAN POINT OF PINNA HP:0000006 OMIM:124300 IEA I 2009-02-17 HPO:curators OMIM 124300 DARWINIAN POINT OF PINNA HP:0000598 OMIM:124300 IEA O 2009-02-17 HPO:curators OMIM 124400 DARWINIAN TUBERCLE OF PINNA HP:0000006 OMIM:124400 IEA I 2009-02-17 HPO:curators OMIM 124400 DARWINIAN TUBERCLE OF PINNA HP:0000598 OMIM:124400 IEA O 2009-02-17 HPO:curators OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0000006 OMIM:124480 TAS I 2009-02-17 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0000407 OMIM:124480 TAS O 2013-12-16 HPO:probinson OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0000698 OMIM:124480 TAS HP:0040283 O 2015-02-02 HPO:probinson OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0001156 OMIM:124480 TAS O 2014-11-26 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0001199 OMIM:124480 TAS HP:0040283 O 2012-11-18 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0001592 OMIM:124480 TAS HP:0040283 O 2009-02-17 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0001770 OMIM:124480 TAS O 2009-02-17 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0001792 OMIM:124480 TAS O 2012-03-03 HPO:probinson OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0001798 OMIM:124480 TAS O 2012-10-17 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0003577 OMIM:124480 TAS C 2012-10-17 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0003812 TAS C 2015-12-30 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0007529 OMIM:124480 IEA O 2009-02-17 HPO:skoehler OMIM 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD HP:0008404 OMIM:124480 TAS O 2009-02-17 HPO:skoehler OMIM 124490 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY HP:0000006 OMIM:124490 IEA I 2009-02-17 HPO:curators OMIM 124490 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY HP:0000405 OMIM:124490 IEA O 2010-06-18 HPO:skoehler OMIM 124490 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY HP:0007209 OMIM:124490 IEA O 2013-10-22 HPO:skoehler OMIM 124490 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY HP:0008572 OMIM:124490 IEA O 2009-02-17 HPO:curators OMIM 124490 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY HP:0008628 OMIM:124490 IEA O 2009-02-17 HPO:curators OMIM 124490 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY HP:0010628 OMIM:124490 IEA O 2009-02-17 HPO:curators OMIM 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OFFINGERS AND TOES HP:0000006 OMIM:124500 TAS I 2009-02-17 HPO:probinson OMIM 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OFFINGERS AND TOES HP:0000365 OMIM:124500 TAS O 2013-03-31 HPO:probinson OMIM 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OFFINGERS AND TOES HP:0007460 OMIM:124500 IEA O 2009-02-17 HPO:curators OMIM 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OFFINGERS AND TOES HP:0007465 OMIM:124500 TAS O 2013-03-31 HPO:probinson OMIM 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OFFINGERS AND TOES HP:0009775 OMIM:124500 TAS O 2013-03-31 HPO:probinson OMIM 124700 DEAFNESS, MID-TONE NEURAL HP:0000006 OMIM:124700 IEA I 2009-02-17 HPO:curators OMIM 124700 DEAFNESS, MID-TONE NEURAL HP:0000407 OMIM:124700 IEA O 2010-06-18 HPO:skoehler OMIM 124700 DEAFNESS, MID-TONE NEURAL HP:0001730 OMIM:124700 IEA O 2009-02-17 HPO:curators OMIM 124700 DEAFNESS, MID-TONE NEURAL HP:0011463 OMIM:124700 IEA C 2012-07-28 HPO:curators OMIM 124900 DEAFNESS, AUTOSOMAL DOMINANT 1 HP:0000006 OMIM:124900 TAS I 2009-02-17 HPO:skoehler OMIM 124900 DEAFNESS, AUTOSOMAL DOMINANT 1 HP:0000407 OMIM:124900 TAS O 2010-06-18 HPO:skoehler OMIM 124900 DEAFNESS, AUTOSOMAL DOMINANT 1 HP:0001730 OMIM:124900 TAS O 2009-02-17 HPO:skoehler OMIM 124900 DEAFNESS, AUTOSOMAL DOMINANT 1 HP:0001873 OMIM:124900 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 124900 DEAFNESS, AUTOSOMAL DOMINANT 1 HP:0008542 OMIM:124900 TAS O 2009-02-17 HPO:skoehler OMIM 124900 DEAFNESS, AUTOSOMAL DOMINANT 1 HP:0011463 OMIM:124900 TAS C 2012-10-17 HPO:skoehler OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0000006 OMIM:124950 IEA I 2009-02-17 HPO:curators OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0000988 OMIM:124950 IEA O 2009-02-17 HPO:curators OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0001085 OMIM:124950 IEA O 2009-02-17 HPO:curators OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0001271 OMIM:124950 IEA O 2009-02-17 HPO:curators OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0001730 OMIM:124950 IEA O 2009-02-17 HPO:curators OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0002315 OMIM:124950 IEA O 2009-02-17 HPO:curators OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0002922 OMIM:124950 TAS O 2012-07-16 HPO:probinson OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0004950 OMIM:124950 IEA O 2009-02-17 HPO:curators OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0008043 OMIM:124950 IEA O 2009-02-17 HPO:curators OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0008619 OMIM:124950 IEA O 2010-06-18 HPO:skoehler OMIM 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE HP:0011120 OMIM:124950 TAS O 2012-07-16 HPO:probinson OMIM 125000 DEAFNESS, UNILATERAL HP:0000006 OMIM:125000 TAS I 2009-02-17 HPO:probinson OMIM 125000 DEAFNESS, UNILATERAL HP:0009900 OMIM:125000 TAS O 2013-03-10 HPO:probinson OMIM 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA HP:0000006 OMIM:125050 TAS I 2009-02-17 HPO:probinson OMIM 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA HP:0001730 OMIM:125050 TAS O 2009-02-17 HPO:probinson OMIM 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA HP:0007476 OMIM:125050 TAS O 2009-02-17 HPO:probinson OMIM 125230 DEAFNESS-CRANIOFACIAL SYNDROME HP:0000006 OMIM:125230 IEA I 2009-02-17 HPO:curators OMIM 125230 DEAFNESS-CRANIOFACIAL SYNDROME HP:0000200 OMIM:125230 IEA O 2009-02-17 HPO:curators OMIM 125230 DEAFNESS-CRANIOFACIAL SYNDROME HP:0000324 OMIM:125230 IEA O 2009-02-17 HPO:curators OMIM 125230 DEAFNESS-CRANIOFACIAL SYNDROME HP:0000365 OMIM:125230 IEA O 2009-02-17 HPO:curators OMIM 125230 DEAFNESS-CRANIOFACIAL SYNDROME HP:0000430 OMIM:125230 IEA O 2017-07-13 HPO:skoehler OMIM 125230 DEAFNESS-CRANIOFACIAL SYNDROME HP:0000431 OMIM:125230 IEA O 2009-02-17 HPO:curators OMIM 125230 DEAFNESS-CRANIOFACIAL SYNDROME HP:0001596 OMIM:125230 IEA O 2010-06-20 HPO:skoehler OMIM 125230 DEAFNESS-CRANIOFACIAL SYNDROME HP:0002007 OMIM:125230 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000408 OMIM:125250 PCS O 2012-04-01 HPO:probinson OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000486 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000505 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000508 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000552 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000576 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000602 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000603 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000642 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000648 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000650 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0000666 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0001251 OMIM:125250 PCS HP:0040283 O 2012-04-01 HPO:probinson OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0001257 OMIM:125250 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0001288 OMIM:125250 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0003198 OMIM:125250 IEA O 2013-01-22 HPO:skoehler OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0003557 OMIM:125250 IEA O 2012-10-17 HPO:skoehler OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0003676 OMIM:125250 IEA C 2017-07-13 HPO:skoehler OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0003812 OMIM:125250 IEA C 2013-07-17 HPO:skoehler OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0006958 IEA O 2009-02-17 HPO:curators OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0007663 OMIM:125250 IEA O 2015-07-26 HPO:skoehler OMIM 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY HP:0009830 OMIM:125250 IEA O 2013-01-22 HPO:skoehler OMIM 125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF HP:0000006 OMIM:125260 IEA I 2009-02-17 HPO:curators OMIM 125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF HP:0002715 OMIM:125260 IEA O 2009-02-17 HPO:curators OMIM 125280 DENS EVAGINATUS HP:0000006 OMIM:125280 IEA I 2009-02-17 HPO:curators OMIM 125280 DENS EVAGINATUS HP:0011087 OMIM:125280 IEA O 2017-07-13 HPO:skoehler OMIM 125300 125300 DENS IN DENTE AND PALATAL INVAGINATIONS HP:0000006 OMIM:125300 IEA I 2009-02-17 HPO:curators OMIM 125300 125300 DENS IN DENTE AND PALATAL INVAGINATIONS HP:0011088 OMIM:125300 IEA O 2012-10-17 HPO:skoehler OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0000006 OMIM:125310 IEA I 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0000020 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0000512 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0000572 OMIM:125310 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0000649 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0000708 OMIM:125310 IEA HP:0040284 O 2012-11-18 HPO:skoehler OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0000951 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0001250 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0001288 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0001297 OMIM:125310 IEA O 2010-06-20 HPO:skoehler OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0002076 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0002352 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0002619 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0003581 OMIM:125310 IEA C 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0007024 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0007123 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0007236 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0007634 OMIM:125310 IEA O 2009-02-17 HPO:curators OMIM 125310 #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL HP:0009830 OMIM:125310 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES HP:0000006 OMIM:125320 TAS I 2009-02-17 HPO:probinson OMIM 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES HP:0000726 OMIM:125320 TAS O 2009-02-17 HPO:skoehler OMIM 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES HP:0001300 OMIM:125320 TAS O 2009-02-17 HPO:skoehler OMIM 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES HP:0011960 OMIM:125320 TAS O 2012-07-28 HPO:probinson OMIM 125350 DENTAL NONERUPTION HP:0000006 OMIM:125350 IEA I 2009-02-17 HPO:curators OMIM 125350 DENTAL NONERUPTION HP:0000668 OMIM:125350 IEA O 2010-06-18 HPO:skoehler OMIM 125350 DENTAL NONERUPTION HP:0006335 OMIM:125350 IEA O 2009-02-17 HPO:curators OMIM 125350 DENTAL NONERUPTION HP:0006352 OMIM:125350 IEA O 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0000006 OMIM:125370 TAS I 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0000639 PMID:19659750 PCS HP:0040284 O 2010-09-10 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0000726 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0001250 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0001251 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0001266 OMIM:125370 TAS O 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0001336 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0002072 PMID:19659750 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0003743 OMIM:125370 TAS I 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0007047 PMID:20500452 PCS HP:0040281 O 2009-02-17 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0007256 PMID:19659750 PCS HP:0040284 O 2010-09-10 HPO:curators OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA HP:0010878 PMID:20500452 PCS HP:0040281 O 2009-02-17 HPO:curators OMIM 125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0000006 OMIM:125400 IEA I 2009-02-17 HPO:curators OMIM 125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0000007 OMIM:125400 IEA I 2012-10-17 HPO:skoehler OMIM 125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0000679 OMIM:125400 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0000691 OMIM:125400 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0000700 OMIM:125400 IEA O 2009-02-17 HPO:curators OMIM 125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0006350 OMIM:125400 IEA O 2009-02-17 HPO:curators OMIM 125400 #125400 DENTIN DYSPLASIA, TYPE I; DTDP1;;DENTIN DYSPLASIA, SHIELDS TYPE I;;ROOTLESS TEETH;;RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED HP:0011060 OMIM:125400 IEA O 2015-01-27 HPO:skoehler OMIM 125420 DENTIN DYSPLASIA, TYPE II HP:0000006 OMIM:125420 TAS I 2009-02-17 HPO:probinson OMIM 125420 DENTIN DYSPLASIA, TYPE II HP:0003771 OMIM:125420 TAS O 2009-02-17 HPO:skoehler OMIM 125420 DENTIN DYSPLASIA, TYPE II HP:0011060 OMIM:125420 TAS O 2015-01-21 HPO:skoehler OMIM 125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES HP:0000006 OMIM:125440 IEA I 2009-02-17 HPO:curators OMIM 125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES HP:0005652 OMIM:125440 IEA O 2009-02-17 HPO:curators OMIM 125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES HP:0011060 OMIM:125440 IEA O 2015-01-27 HPO:skoehler OMIM 125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY HP:0012379 OMIM:125460 IEA O 2009-02-17 HPO:curators OMIM 125480 MAJOR AFFECTIVE DISORDER 1 HP:0000006 OMIM:125480 TAS I 2009-02-17 HPO:curators OMIM 125480 MAJOR AFFECTIVE DISORDER 1 HP:0000716 OMIM:125480 TAS O 2009-02-17 HPO:probinson OMIM 125480 MAJOR AFFECTIVE DISORDER 1 HP:0100754 OMIM:125480 TAS O 2013-12-18 HPO:probinson OMIM 125490 DENTINOGENESIS IMPERFECTA 1 HP:0000006 OMIM:125490 IEA I 2009-02-17 HPO:curators OMIM 125490 DENTINOGENESIS IMPERFECTA 1 HP:0000703 OMIM:125490 IEA O 2009-02-17 HPO:curators OMIM 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III HP:0000006 OMIM:125500 IEA I 2009-02-17 HPO:curators OMIM 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III HP:0000694 OMIM:125500 IEA O 2009-02-17 HPO:curators OMIM 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III HP:0000700 OMIM:125500 IEA O 2009-02-17 HPO:curators OMIM 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III HP:0000703 OMIM:125500 TAS O 2009-02-17 HPO:skoehler OMIM 125520 CAYLER CARDIOFACIAL SYNDROME HP:0000006 OMIM:125520 TAS I 2012-04-11 HPO:probinson OMIM 125520 CAYLER CARDIOFACIAL SYNDROME HP:0001629 OMIM:125520 TAS O 2012-04-11 HPO:probinson OMIM 125520 CAYLER CARDIOFACIAL SYNDROME HP:0001636 OMIM:125520 TAS O 2012-04-11 HPO:probinson OMIM 125520 CAYLER CARDIOFACIAL SYNDROME HP:0001643 OMIM:125520 TAS O 2012-04-11 HPO:probinson OMIM 125520 CAYLER CARDIOFACIAL SYNDROME HP:0003577 OMIM:125520 TAS C 2012-04-11 HPO:probinson OMIM 125520 CAYLER CARDIOFACIAL SYNDROME HP:0011333 OMIM:125520 TAS O 2012-04-11 HPO:probinson OMIM 125530 DERMAL RIDGES, NELSON SYNDROME HP:0000006 OMIM:125530 TAS I 2009-02-17 HPO:probinson OMIM 125530 DERMAL RIDGES, NELSON SYNDROME HP:0007477 OMIM:125530 TAS O 2017-06-14 HPO:probinson OMIM 125540 DERMAL RIDGES, PATTERNLESS HP:0000006 OMIM:125540 IEA I 2009-02-17 HPO:curators OMIM 125540 DERMAL RIDGES, PATTERNLESS HP:0000951 OMIM:125540 IEA O 2009-02-17 HPO:curators OMIM 125550 DERMAL RIDGES-OFF-THE-END HP:0000006 OMIM:125550 TAS I 2009-02-17 HPO:curators OMIM 125550 DERMAL RIDGES-OFF-THE-END HP:0007608 OMIM:125550 TAS O 2009-02-17 HPO:skoehler OMIM 125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT HP:0000006 OMIM:125570 TAS I 2009-02-17 HPO:curators OMIM 125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT HP:0007608 OMIM:125570 TAS O 2009-02-17 HPO:curators OMIM 125590 DERMATOGLYPHICS--FINGERPRINT PATTERN HP:0000006 OMIM:125590 TAS I 2009-02-17 HPO:curators OMIM 125590 DERMATOGLYPHICS--FINGERPRINT PATTERN HP:0007477 OMIM:125590 TAS O 2017-06-14 HPO:probinson OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000006 OMIM:125595 TAS I 2009-02-17 HPO:probinson OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000502 OMIM:125595 IEA O 2015-02-01 HPO:curators OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0000972 OMIM:125595 TAS O 2009-02-17 HPO:probinson OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0002293 OMIM:125595 TAS O 2009-02-17 HPO:probinson OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007455 OMIM:125595 TAS O 2009-02-17 HPO:probinson OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007550 OMIM:125595 TAS O 2009-02-17 HPO:probinson OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0007588 OMIM:125595 TAS O 2009-02-17 HPO:probinson OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0008404 OMIM:125595 TAS O 2013-05-03 HPO:skoehler OMIM 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS HP:0012788 OMIM:125595 TAS O 2015-02-01 HPO:probinson OMIM 125600 DERMATOSIS PAPULOSA NIGRA HP:0000951 OMIM:125600 IEA O 2009-02-17 HPO:curators OMIM 125630 DERMODISTORTIVE URTICARIA HP:0000006 OMIM:125630 IEA I 2009-02-17 HPO:curators OMIM 125630 DERMODISTORTIVE URTICARIA HP:0001025 OMIM:125630 TAS O 2012-07-19 HPO:skoehler OMIM 125630 DERMODISTORTIVE URTICARIA HP:0001041 OMIM:125630 IEA O 2010-06-20 HPO:skoehler OMIM 125635 DERMOGRAPHISM, FAMILIAL HP:0000006 OMIM:125635 TAS I 2009-02-17 HPO:probinson OMIM 125635 DERMOGRAPHISM, FAMILIAL HP:0011971 OMIM:125635 TAS O 2012-07-18 HPO:probinson OMIM 125640 DERMOODONTODYSPLASIA HP:0000006 OMIM:125640 IEA I 2009-02-17 HPO:curators OMIM 125640 DERMOODONTODYSPLASIA HP:0000164 OMIM:125640 IEA O 2009-02-17 HPO:curators OMIM 125640 DERMOODONTODYSPLASIA HP:0000968 OMIM:125640 IEA O 2009-02-17 HPO:curators OMIM 125640 DERMOODONTODYSPLASIA HP:0002164 OMIM:125640 IEA O 2009-02-17 HPO:curators OMIM 125640 DERMOODONTODYSPLASIA HP:0002552 OMIM:125640 IEA O 2009-02-17 HPO:curators OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000006 OMIM:125700 TAS I 2012-04-25 HPO:probinson OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000316 OMIM:125700 TAS O 2012-04-25 HPO:probinson OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000343 OMIM:125700 TAS O 2009-02-17 HPO:probinson OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000445 OMIM:125700 TAS O 2012-04-25 HPO:probinson OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000863 OMIM:125700 TAS O 2009-02-17 HPO:probinson OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0000938 OMIM:125700 TAS O 2009-02-17 HPO:probinson OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0001939 OMIM:125700 IEA O 2009-02-17 HPO:probinson OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0002171 OMIM:125700 TAS O 2010-06-20 HPO:skoehler OMIM 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE HP:0003196 OMIM:125700 TAS O 2012-04-25 HPO:probinson OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0000006 OMIM:125800 IEA I 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0000007 OMIM:125800 IEA I 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0000021 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0000103 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0000737 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0001249 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0001250 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0001508 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0001955 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0001959 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0001986 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0002013 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0002019 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0003228 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0003623 OMIM:125800 IEA C 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0004322 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0008872 OMIM:125800 IEA O 2009-02-17 HPO:curators OMIM 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL HP:0009806 OMIM:125800 TAS O 2013-12-15 HPO:probinson OMIM 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I HP:0000006 OMIM:125850 IEA I 2009-02-17 HPO:curators OMIM 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I HP:0004904 OMIM:125850 TAS O 2009-02-17 HPO:curators OMIM 125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II HP:0000006 OMIM:125851 TAS I 2009-02-17 HPO:skoehler OMIM 125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II HP:0004904 OMIM:125851 TAS O 2009-02-17 HPO:skoehler OMIM 125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 HP:0000006 TAS I 2015-12-30 HPO:skoehler OMIM 125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 HP:0100651 OMIM:125852 IEA O 2012-10-17 HPO:skoehler OMIM 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT HP:0000006 OMIM:125853 TAS I 2009-02-17 HPO:probinson OMIM 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT HP:0000855 OMIM:125853 TAS O 2009-02-17 HPO:probinson OMIM 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT HP:0003584 OMIM:125853 TAS C 2009-02-17 HPO:probinson OMIM 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT HP:0005978 OMIM:125853 TAS O 2009-02-17 HPO:probinson OMIM 125900 DIASTEMA, DENTAL MEDIAL HP:0000006 OMIM:125900 IEA I 2009-02-17 HPO:curators OMIM 125900 DIASTEMA, DENTAL MEDIAL HP:0000699 OMIM:125900 TAS O 2009-02-17 HPO:probinson OMIM 125900 DIASTEMA, DENTAL MEDIAL HP:0001566 OMIM:125900 IEA O 2009-02-17 HPO:curators OMIM 126050 DIGITOTALAR DYSMORPHISM HP:0000006 OMIM:126050 TAS I 2009-02-17 HPO:probinson OMIM 126050 DIGITOTALAR DYSMORPHISM HP:0001838 OMIM:126050 TAS O 2009-02-17 HPO:probinson OMIM 126050 DIGITOTALAR DYSMORPHISM HP:0003502 OMIM:126050 TAS O 2009-02-17 HPO:probinson OMIM 126050 DIGITOTALAR DYSMORPHISM HP:0009465 OMIM:126050 TAS O 2009-02-17 HPO:probinson OMIM 126050 DIGITOTALAR DYSMORPHISM HP:0100490 OMIM:126050 TAS O 2012-07-26 HPO:probinson OMIM 126070 DILUTION, PIGMENTARY HP:0000006 OMIM:126070 IEA I 2009-02-17 HPO:curators OMIM 126070 DILUTION, PIGMENTARY HP:0001010 OMIM:126070 TAS O 2009-02-17 HPO:skoehler OMIM 126070 DILUTION, PIGMENTARY HP:0005599 OMIM:126070 TAS O 2013-03-11 HPO:probinson OMIM 126070 DILUTION, PIGMENTARY HP:0007730 OMIM:126070 TAS O 2013-03-11 HPO:probinson OMIM 126070 DILUTION, PIGMENTARY HP:0007894 OMIM:126070 TAS O 2013-03-11 HPO:probinson OMIM 126100 DIMPLES, FACIAL HP:0000006 OMIM:126100 IEA I 2009-02-17 HPO:curators OMIM 126100 DIMPLES, FACIAL HP:0000271 OMIM:126100 IEA O 2009-02-17 HPO:curators OMIM 126180 DISCRIMINATION, TWO-POINT, REDUCTION IN HP:0000006 OMIM:126180 IEA I 2009-02-17 HPO:curators OMIM 126180 DISCRIMINATION, TWO-POINT, REDUCTION IN HP:0000707 OMIM:126180 IEA O 2009-02-17 HPO:curators OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0000006 OMIM:126190 IEA I 2009-02-17 HPO:curators OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0000164 OMIM:126190 IEA O 2009-02-17 HPO:curators OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0000218 OMIM:126190 IEA O 2009-02-17 HPO:curators OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0000508 OMIM:126190 IEA O 2009-02-17 HPO:curators OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0001642 OMIM:126190 IEA O 2009-02-17 HPO:curators OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0003498 OMIM:126190 TAS O 2009-02-17 HPO:probinson OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0004279 OMIM:126190 IEA O 2009-02-17 HPO:curators OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0004322 OMIM:126190 IEA O 2010-06-18 HPO:skoehler OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0006385 OMIM:126190 TAS O 2012-07-20 HPO:probinson OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0009466 OMIM:126190 IEA O 2009-02-17 HPO:curators OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0030084 OMIM:126190 IEA O 2014-09-21 HPO:skoehler OMIM 126190 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS HP:0200055 OMIM:126190 IEA O 2012-10-17 HPO:skoehler OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0000019 IEA O 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0000020 IEA O 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0000651 IEA O 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0000712 IEA O 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0000716 IEA O 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0001257 IEA O 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0001324 OMIM:126200 TAS O 2012-04-11 HPO:probinson OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0001426 IEA I 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0002311 IEA O 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0003401 IEA O 2009-02-17 HPO:curators OMIM 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO HP:0007305 OMIM:126200 TAS O 2012-04-11 HPO:probinson OMIM 126250 DISTAL OSTEOSCLEROSIS HP:0000006 OMIM:126250 IEA I 2009-02-17 HPO:curators OMIM 126250 DISTAL OSTEOSCLEROSIS HP:0003034 OMIM:126250 TAS O 2014-04-22 HPO:curators OMIM 126250 DISTAL OSTEOSCLEROSIS HP:0005464 OMIM:126250 TAS O 2014-04-22 HPO:curators OMIM 126300 DISTICHIASIS HP:0000006 OMIM:126300 IEA I 2009-02-17 HPO:curators OMIM 126300 DISTICHIASIS HP:0009743 OMIM:126300 IEA O 2009-02-17 HPO:curators OMIM 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL HP:0000006 OMIM:126320 PCS I 2012-04-11 HPO:probinson OMIM 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL HP:0001629 OMIM:126320 PCS O 2012-04-11 HPO:probinson OMIM 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL HP:0001643 OMIM:126320 PCS O 2012-04-11 HPO:probinson OMIM 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL HP:0001688 OMIM:126320 PCS O 2012-04-11 HPO:probinson OMIM 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL HP:0002619 OMIM:126320 PCS O 2012-04-11 HPO:probinson OMIM 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL HP:0004950 OMIM:126320 PCS O 2012-04-11 HPO:probinson OMIM 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL HP:0009743 OMIM:126320 PCS O 2012-04-11 HPO:probinson OMIM 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL HP:0010741 OMIM:126320 PCS O 2012-04-11 HPO:probinson OMIM 126500 DOUBLE NAIL FOR FIFTH TOE HP:0000006 OMIM:126500 IEA I 2009-02-17 HPO:curators OMIM 126500 DOUBLE NAIL FOR FIFTH TOE HP:0000924 OMIM:126500 IEA O 2009-02-17 HPO:curators OMIM 126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0000006 pmid:11241496 PCS I 2009-02-17 HPO:curators OMIM 126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0000670 pmid:11241496 PCS O 2015-03-22 HPO:curators OMIM 126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0002757 pmid:11241496 PCS O 2015-03-22 HPO:curators OMIM 126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL HP:0003155 pmid:11241496 PCS O 2015-03-22 HPO:curators OMIM 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0000006 OMIM:126600 TAS I 2009-02-17 HPO:probinson OMIM 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0000505 OMIM:126600 TAS O 2015-07-19 HPO:probinson OMIM 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0000556 OMIM:126600 TAS O 2015-01-27 HPO:skoehler OMIM 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY HP:0007937 OMIM:126600 TAS O 2009-02-17 HPO:probinson OMIM 126700 BASAL LAMINAR DRUSEN HP:0000006 OMIM:126700 IEA I 2009-02-17 HPO:curators OMIM 126700 BASAL LAMINAR DRUSEN HP:0000529 OMIM:126700 IEA O 2009-02-17 HPO:curators OMIM 126800 DUANE RETRACTION SYNDROME 1 HP:0000006 OMIM:126800 IEA I 2009-02-17 HPO:curators OMIM 126800 DUANE RETRACTION SYNDROME 1 HP:0000487 OMIM:126800 IEA O 2009-02-17 HPO:curators OMIM 126800 DUANE RETRACTION SYNDROME 1 HP:0000542 OMIM:126800 IEA O 2009-02-17 HPO:curators OMIM 126800 DUANE RETRACTION SYNDROME 1 HP:0000619 OMIM:126800 IEA O 2009-02-17 HPO:curators OMIM 126800 DUANE RETRACTION SYNDROME 1 HP:0000634 OMIM:126800 IEA O 2009-02-17 HPO:curators OMIM 126800 DUANE RETRACTION SYNDROME 1 HP:0000661 OMIM:126800 IEA O 2009-02-17 HPO:curators OMIM 126800 DUANE RETRACTION SYNDROME 1 HP:0009921 OMIM:126800 IEA O 2009-02-17 HPO:curators OMIM 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION HP:0000006 OMIM:126840 IEA I 2009-02-17 HPO:curators OMIM 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION HP:0002588 OMIM:126840 IEA O 2009-02-17 HPO:curators OMIM 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION HP:0003238 OMIM:126840 IEA O 2009-02-17 HPO:curators OMIM 126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I HP:0000006 OMIM:126850 IEA I 2009-02-17 HPO:curators OMIM 126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I HP:0002588 OMIM:126850 IEA O 2009-02-17 HPO:curators OMIM 126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I HP:0003238 OMIM:126850 IEA O 2009-02-17 HPO:curators OMIM 126900 DUPUYTREN CONTRACTUREDUPUYTREN CONTRACTURE 1, INCLUDED HP:0000006 OMIM:126900 TAS I 2009-02-17 HPO:curators OMIM 126900 DUPUYTREN CONTRACTUREDUPUYTREN CONTRACTURE 1, INCLUDED HP:0003581 OMIM:126900 TAS C 2013-12-18 HPO:probinson OMIM 126900 DUPUYTREN CONTRACTUREDUPUYTREN CONTRACTURE 1, INCLUDED HP:0003676 OMIM:126900 TAS C 2009-02-17 HPO:skoehler OMIM 126900 DUPUYTREN CONTRACTUREDUPUYTREN CONTRACTURE 1, INCLUDED HP:0003829 OMIM:126900 TAS C 2009-02-17 HPO:curators OMIM 126900 DUPUYTREN CONTRACTUREDUPUYTREN CONTRACTURE 1, INCLUDED HP:0005679 OMIM:126900 TAS O 2009-02-17 HPO:skoehler OMIM 126900 DUPUYTREN CONTRACTUREDUPUYTREN CONTRACTURE 1, INCLUDED HP:0009473 OMIM:126900 IEA O 2009-02-17 HPO:curators OMIM 126950 DWARFISM WITH TALL VERTEBRAE HP:0000006 OMIM:126950 IEA I 2009-02-17 HPO:curators OMIM 126950 DWARFISM WITH TALL VERTEBRAE HP:0002812 OMIM:126950 IEA O 2009-02-17 HPO:curators OMIM 126950 DWARFISM WITH TALL VERTEBRAE HP:0003510 OMIM:126950 IEA O 2009-02-17 HPO:curators OMIM 126950 DWARFISM WITH TALL VERTEBRAE HP:0004570 OMIM:126950 IEA O 2009-02-17 HPO:curators OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0000006 OMIM:127000 IEA I 2013-09-10 HPO:skoehler OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0000256 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0000519 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0000540 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0000568 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0000829 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0000935 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0001085 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0001250 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0001476 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0001518 OMIM:127000 IEA O 2013-09-10 HPO:skoehler OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0001620 OMIM:127000 IEA HP:0040283 O 2013-09-10 HPO:skoehler OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0001903 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0002135 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0002901 OMIM:127000 TAS O 2010-06-20 HPO:skoehler OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0003510 OMIM:127000 IEA O 2013-09-10 HPO:skoehler OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0004322 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0007862 OMIM:127000 TAS O 2010-06-20 HPO:skoehler OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0008285 OMIM:127000 TAS O 2009-02-17 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0011001 OMIM:127000 TAS O 2012-07-30 HPO:probinson OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0011220 OMIM:127000 IEA O 2013-09-10 HPO:skoehler OMIM 127000 #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME HP:0100253 OMIM:127000 TAS O 2012-07-30 HPO:probinson OMIM 127100 DWARFISM, LEVI TYPE HP:0000006 OMIM:127100 IEA I 2009-02-17 HPO:curators OMIM 127100 DWARFISM, LEVI TYPE HP:0000007 OMIM:127100 IEA I 2009-02-17 HPO:curators OMIM 127100 DWARFISM, LEVI TYPE HP:0000271 OMIM:127100 IEA O 2009-02-17 HPO:curators OMIM 127100 DWARFISM, LEVI TYPE HP:0001518 OMIM:127100 IEA O 2009-02-17 HPO:curators OMIM 127100 DWARFISM, LEVI TYPE HP:0003510 OMIM:127100 IEA O 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0000006 OMIM:127200 IEA I 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0000501 OMIM:127200 IEA O 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0000518 OMIM:127200 IEA O 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0000540 OMIM:127200 IEA O 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0000541 OMIM:127200 IEA O 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0001072 OMIM:127200 TAS O 2009-02-17 HPO:probinson OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0001216 OMIM:127200 IEA O 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0001387 OMIM:127200 IEA O 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0003510 OMIM:127200 IEA O 2015-01-21 HPO:skoehler OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0006385 OMIM:127200 IEA O 2012-10-17 HPO:skoehler OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0008873 OMIM:127200 IEA O 2009-02-17 HPO:curators OMIM 127200 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME HP:0009803 OMIM:127200 IEA O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0000006 OMIM:127300 PCS I 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0000218 PubMed:11739418; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0001191 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0001831 ISBN-13:978-0721606156 PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0001832 ISBN-13:978-0721606156 PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0002650 PubMed:11739418; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0002673 ISBN-13:978-0721606156 PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0002762 PubMed:11739418; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0002982 ISBN-13:978-0721606156 PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0002984 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0002986 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0002996 OMIM:127300 PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0003022 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0003027 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0003038 ISBN-13:978-0721606156 PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0003063 ISBN-13:978-0721606156 PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0003067 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0003102 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0003712 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0005736 ISBN-13:978-0721606156 PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0006248 OMIM:127300 PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0006459 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2010-08-13 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0008873 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2009-02-17 HPO:curators OMIM 127300 LERI-WEILL DYSCHONDROSTEOSIS HP:0010044 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd PCS O 2010-08-13 HPO:curators OMIM 127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0000123 OMIM:127350 IEA O 2009-02-17 HPO:curators OMIM 127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0002986 OMIM:127350 IEA O 2009-02-17 HPO:curators OMIM 127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0003031 OMIM:127350 IEA O 2009-02-17 HPO:curators OMIM 127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0003067 OMIM:127350 TAS O 2009-02-17 HPO:curators OMIM 127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0005736 OMIM:127350 IEA O 2009-02-17 HPO:curators OMIM 127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0005773 OMIM:127350 TAS O 2012-10-17 HPO:skoehler OMIM 127350 127350 DYSCHONDROSTEOSIS AND NEPHRITIS HP:0008845 OMIM:127350 TAS O 2009-02-17 HPO:curators OMIM 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 HP:0000006 OMIM:127400 IEA I 2009-02-17 HPO:curators OMIM 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 HP:0003593 OMIM:127400 TAS C 2009-02-17 HPO:skoehler OMIM 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 HP:0007441 OMIM:127400 IEA O 2009-02-17 HPO:curators OMIM 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA HP:0000006 OMIM:127500 IEA I 2009-02-17 HPO:curators OMIM 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA HP:0003593 OMIM:127500 TAS C 2009-02-17 HPO:skoehler OMIM 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA HP:0007441 OMIM:127500 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0000006 OMIM:127550 IEA I 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0000670 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0000939 OMIM:127550 IEA O 2010-06-18 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001251 OMIM:127550 IEA O 2010-06-18 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001321 OMIM:127550 IEA O 2010-06-18 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001328 OMIM:127550 IEA O 2010-06-18 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001394 OMIM:127550 TAS O 2009-02-17 HPO:probinson OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001596 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001803 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001807 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001873 OMIM:127550 IEA O 2012-10-17 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001888 OMIM:127550 IEA O 2012-10-17 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001903 OMIM:127550 IEA O 2012-10-17 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0001915 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0002206 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0002216 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0002745 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0002863 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0003812 OMIM:127550 IEA C 2012-10-17 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0004334 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0005528 OMIM:127550 IEA O 2012-10-17 HPO:skoehler OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0006480 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0006515 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0006739 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0007588 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0008070 OMIM:127550 IEA O 2009-02-17 HPO:curators OMIM 127550 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE HP:0008404 OMIM:127550 IEA O 2013-05-03 HPO:skoehler OMIM 127600 %127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID;;DKBI HP:0000006 OMIM:127600 IEA I 2009-02-17 HPO:curators OMIM 127600 %127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID;;DKBI HP:0000505 OMIM:127600 IEA O 2009-02-17 HPO:curators OMIM 127600 %127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID;;DKBI HP:0000613 OMIM:127600 IEA HP:0040283 O 2013-06-06 HPO:skoehler OMIM 127600 %127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID;;DKBI HP:0002745 OMIM:127600 IEA O 2009-02-17 HPO:curators OMIM 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1 HP:0000006 OMIM:127700 TAS I 2009-02-17 HPO:skoehler OMIM 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1 HP:0002167 OMIM:127700 TAS O 2009-02-17 HPO:skoehler OMIM 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1 HP:0010522 OMIM:127700 TAS O 2010-06-18 HPO:skoehler OMIM 127750 DEMENTIA, LEWY BODY HP:0000006 OMIM:127750 IEA I 2009-02-17 HPO:curators OMIM 127750 DEMENTIA, LEWY BODY HP:0000726 OMIM:127750 IEA O 2009-02-17 HPO:curators OMIM 127750 DEMENTIA, LEWY BODY HP:0000746 OMIM:127750 IEA O 2009-02-17 HPO:curators OMIM 127750 DEMENTIA, LEWY BODY HP:0001300 OMIM:127750 IEA O 2009-02-17 HPO:curators OMIM 127750 DEMENTIA, LEWY BODY HP:0002367 OMIM:127750 IEA O 2009-02-17 HPO:curators OMIM 127750 DEMENTIA, LEWY BODY HP:0007159 OMIM:127750 IEA O 2009-02-17 HPO:curators OMIM 127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA HP:0000924 OMIM:127800 IEA O 2009-02-17 HPO:curators OMIM 127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA HP:0001548 OMIM:127800 IEA O 2010-06-20 HPO:skoehler OMIM 127820 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS;;OSTEOCHONDROMATOSIS, DOMINANT CARPOTARSAL HP:0000006 OMIM:127820 IEA I 2009-02-17 HPO:curators OMIM 127820 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS;;OSTEOCHONDROMATOSIS, DOMINANT CARPOTARSAL HP:0001386 OMIM:127820 IEA O 2009-02-17 HPO:curators OMIM 127820 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS;;OSTEOCHONDROMATOSIS, DOMINANT CARPOTARSAL HP:0030431 OMIM:127820 IEA O 2015-08-05 HPO:skoehler OMIM 128000 DYSTELEPHALANGY HP:0000006 OMIM:128000 IEA I 2009-02-17 HPO:curators OMIM 128000 DYSTELEPHALANGY HP:0004226 OMIM:128000 TAS O 2012-07-17 HPO:probinson OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0000006 OMIM:128100 IEA I 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0000473 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0000643 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0000716 TAS O 2015-12-30 HPO:skoehler OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0001260 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0001276 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0001290 OMIM:128100 IEA O 2017-07-13 HPO:skoehler OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0001304 OMIM:128100 TAS O 2009-02-17 HPO:probinson OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0001337 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0002356 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0002533 OMIM:128100 IEA O 2010-06-20 HPO:skoehler OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0002650 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0002808 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0003307 OMIM:128100 IEA O 2009-02-17 HPO:curators OMIM 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT HP:0003829 OMIM:128100 IEA HP:0040284 C 2012-11-18 HPO:skoehler OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0000006 OMIM:128101 TAS I 2009-02-17 HPO:probinson OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0000275 OMIM:128101 TAS O 2013-07-17 HPO:skoehler OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0000473 OMIM:128101 TAS O 2009-02-17 HPO:probinson OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0001304 OMIM:128101 TAS O 2009-02-17 HPO:probinson OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0001618 OMIM:128101 TAS O 2009-02-17 HPO:probinson OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0002015 OMIM:128101 TAS O 2013-07-17 HPO:skoehler OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0002066 OMIM:128101 TAS O 2014-05-24 HPO:skoehler OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0002451 OMIM:128101 TAS O 2013-07-17 HPO:skoehler OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0007325 OMIM:128101 TAS O 2013-07-17 HPO:skoehler OMIM 128101 #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4 HP:0009938 OMIM:128101 TAS O 2014-05-24 HPO:skoehler OMIM 128200 #128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10 HP:0000006 OMIM:128200 IEA I 2009-02-17 HPO:curators OMIM 128200 #128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10 HP:0000271 OMIM:128200 IEA O 2009-02-17 HPO:curators OMIM 128200 #128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10 HP:0001250 OMIM:128200 IEA HP:0040284 O 2010-06-20 HPO:skoehler OMIM 128200 #128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10 HP:0002268 OMIM:128200 IEA O 2009-02-17 HPO:curators OMIM 128200 #128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10 HP:0002310 OMIM:128200 IEA O 2009-02-17 HPO:curators OMIM 128200 #128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10 HP:0003829 OMIM:128200 IEA C 2012-11-25 HPO:skoehler OMIM 128200 #128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10 HP:0007098 OMIM:128200 TAS O 2012-07-16 HPO:probinson OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0000006 OMIM:128230 IEA I 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0000007 OMIM:128230 IEA HP:0040283 I 2012-11-18 HPO:skoehler OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0000473 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0001300 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0001347 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0001761 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0001762 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0002066 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0002174 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0002356 OMIM:128230 IEA O 2010-06-20 HPO:skoehler OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0002548 OMIM:128230 TAS O 2009-02-17 HPO:probinson OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0002650 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0003487 OMIM:128230 IEA O 2009-02-17 HPO:curators OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0003812 OMIM:128230 IEA C 2012-11-26 HPO:skoehler OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0008297 OMIM:128230 IEA O 2010-06-20 HPO:skoehler OMIM 128230 DYSTONIA, DOPA-RESPONSIVE; DRD HP:0011463 OMIM:128230 TAS C 2012-07-16 HPO:probinson OMIM 128235 DYSTONIA 12 HP:0000006 OMIM:128235 IEA I 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0000338 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0000473 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0000712 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0000716 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0000739 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0001260 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0001300 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0002015 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0002067 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0002172 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0002300 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0002307 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0002317 OMIM:128235 IEA O 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0003829 OMIM:128235 IEA C 2009-02-17 HPO:curators OMIM 128235 DYSTONIA 12 HP:0011462 OMIM:128235 TAS HP:0040282 C 2009-02-17 HPO:probinson OMIM 128290 EAR ANTITRAGUS, TAG AT BASE OF HP:0000006 OMIM:128290 IEA I 2009-02-17 HPO:curators OMIM 128290 EAR ANTITRAGUS, TAG AT BASE OF HP:0000598 OMIM:128290 IEA O 2009-02-17 HPO:curators OMIM 128300 EAR EXOSTOSES HP:0000006 OMIM:128300 IEA I 2009-02-17 HPO:curators OMIM 128300 EAR EXOSTOSES HP:0004459 OMIM:128300 IEA O 2009-02-17 HPO:curators OMIM 128500 EAR FOLDING HP:0000006 OMIM:128500 IEA I 2009-02-17 HPO:curators OMIM 128500 EAR FOLDING HP:0000598 OMIM:128500 IEA O 2009-02-17 HPO:curators OMIM 128600 EAR MALFORMATION HP:0000006 OMIM:128600 IEA I 2009-02-17 HPO:curators OMIM 128600 EAR MALFORMATION HP:0000598 OMIM:128600 IEA O 2009-02-17 HPO:curators OMIM 128700 PREAURICULAR FISTULAE, CONGENITAL HP:0000006 OMIM:128700 IEA I 2009-02-17 HPO:curators OMIM 128700 PREAURICULAR FISTULAE, CONGENITAL HP:0004467 OMIM:128700 TAS O 2009-02-17 HPO:probinson OMIM 128710 EAR PITS, POSTERIOR HELICAL HP:0000006 OMIM:128710 TAS I 2009-02-17 HPO:probinson OMIM 128710 EAR PITS, POSTERIOR HELICAL HP:0008523 OMIM:128710 TAS O 2009-02-17 HPO:probinson OMIM 128800 EAR WITHOUT HELIX HP:0000006 OMIM:128800 IEA I 2009-02-17 HPO:curators OMIM 128800 EAR WITHOUT HELIX HP:0000598 OMIM:128800 IEA O 2009-02-17 HPO:curators OMIM 128950 EARLOBE CREASE HP:0000006 OMIM:128950 IEA I 2017-07-13 HPO:skoehler OMIM 128950 EARLOBE CREASE HP:0009908 OMIM:128950 IEA O 2017-07-13 HPO:skoehler OMIM 128980 %128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIALABNORMALITIES HP:0000006 OMIM:128980 IEA I 2009-02-17 HPO:curators OMIM 128980 %128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIALABNORMALITIES HP:0008591 OMIM:128980 IEA O 2009-02-17 HPO:curators OMIM 128980 %128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIALABNORMALITIES HP:0200111 OMIM:128980 IEA O 2013-06-05 HPO:skoehler OMIM 129000 EARRING HOLES, NATURAL HP:0000006 OMIM:129000 IEA I 2009-02-17 HPO:curators OMIM 129000 EARRING HOLES, NATURAL HP:0004461 OMIM:129000 IEA O 2009-02-17 HPO:curators OMIM 129100 EARS, ABILITY TO MOVE HP:0000006 OMIM:129100 IEA I 2017-07-13 HPO:skoehler OMIM 129150 ECHO VIRUS 11 SENSITIVITY HP:0000006 OMIM:129150 IEA I 2009-02-17 HPO:curators OMIM 129150 ECHO VIRUS 11 SENSITIVITY HP:0002715 OMIM:129150 IEA O 2009-02-17 HPO:curators OMIM 129200 BASAN SYNDROME HP:0000006 OMIM:129200 IEA I 2009-02-17 HPO:curators OMIM 129200 BASAN SYNDROME HP:0000954 OMIM:129200 IEA O 2009-02-17 HPO:curators OMIM 129200 BASAN SYNDROME HP:0000968 OMIM:129200 IEA O 2015-01-14 HPO:skoehler OMIM 129200 BASAN SYNDROME HP:0001056 OMIM:129200 IEA O 2010-06-20 HPO:skoehler OMIM 129200 BASAN SYNDROME HP:0001182 OMIM:129200 IEA O 2009-02-17 HPO:curators OMIM 129200 BASAN SYNDROME HP:0001371 OMIM:129200 IEA O 2013-01-22 HPO:skoehler OMIM 129200 BASAN SYNDROME HP:0007455 OMIM:129200 IEA O 2015-01-19 HPO:skoehler OMIM 129200 BASAN SYNDROME HP:0010621 OMIM:129200 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 129200 BASAN SYNDROME HP:0025092 OMIM:129200 IEA O 2017-07-13 HPO:skoehler OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000047 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000059 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000160 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000175 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000193 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000204 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000220 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000327 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000348 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000365 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000403 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000430 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000460 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000508 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000668 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000691 OMIM:129400 TAS O 2013-08-10 HPO:skoehler OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000698 OMIM:129400 TAS O 2013-06-13 HPO:skoehler OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000963 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0000966 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0001092 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0001159 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0001792 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0001805 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0002213 OMIM:129400 PCS O 2012-03-01 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0002235 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0002287 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0004322 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0005280 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0007476 OMIM:129400 IEA O 2015-01-14 HPO:skoehler OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0007500 IEA O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0008070 OMIM:129400 PCS O 2009-02-17 HPO:curators OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0008070 OMIM:129400 TAS O 2013-06-11 HPO:skoehler OMIM 129400 #129400 RAPP-HODGKIN SYNDROME; RHS;;ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED HP:0200141 OMIM:129400 IEA O 2013-08-18 HPO:skoehler OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000535 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000653 IEA O 2012-03-01 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000668 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000674 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000691 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000958 OMIM:129490 IEA O 2013-01-22 HPO:skoehler OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000966 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0000968 OMIM:129490 IEA O 2015-01-14 HPO:skoehler OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0001006 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0001425 OMIM:129490 IEA I 2013-01-22 HPO:skoehler OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0002046 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0002164 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0002213 IEA O 2009-02-17 HPO:curators OMIM 129490 #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED HP:0002217 IEA O 2012-03-01 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000164 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000486 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000498 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000509 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000518 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000535 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000613 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000653 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000953 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000968 OMIM:129500 IEA O 2015-01-14 HPO:skoehler OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0000972 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0001792 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0001806 IEA O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0002164 OMIM:129500 PCS O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0002213 OMIM:129500 PCS O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0002217 OMIM:129500 PCS O 2012-03-01 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0002221 OMIM:129500 PCS O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0002299 OMIM:129500 PCS O 2012-03-01 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0002555 OMIM:129500 PCS O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0003828 OMIM:129500 IEA C 2013-01-22 HPO:skoehler OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0004322 OMIM:129500 PCS O 2009-02-17 HPO:curators OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY HP:0007418 OMIM:129500 IEA O 2015-12-30 HPO:skoehler OMIM 129500 #129500 CLOUSTON SYNDROME;;ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;;CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;;ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY SEVERE HP:0008404 OMIM:129500 IEA O 2013-06-06 HPO:skoehler OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0000006 OMIM:129510 IEA I 2009-02-17 HPO:curators OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0000668 OMIM:129510 IEA O 2009-02-17 HPO:curators OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0000765 OMIM:129510 IEA O 2009-02-17 HPO:curators OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0000968 OMIM:129510 IEA O 2009-02-17 HPO:curators OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0001006 OMIM:129510 IEA O 2009-02-17 HPO:curators OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0002561 OMIM:129510 IEA O 2015-01-04 HPO:skoehler OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0007521 OMIM:129510 IEA O 2009-02-17 HPO:curators OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE HP:0008587 OMIM:129510 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000219 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000272 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000319 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000347 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000506 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000535 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000653 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000670 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000750 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0000968 OMIM:129540 IEA O 2015-01-14 HPO:skoehler OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0001596 OMIM:129540 IEA O 2010-06-20 HPO:skoehler OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0001597 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0003745 OMIM:129540 IEA I 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0004209 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0005280 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0006297 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0009084 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0010098 OMIM:129540 IEA O 2009-02-17 HPO:curators OMIM 129540 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET HP:0100258 OMIM:129540 IEA O 2012-10-17 HPO:skoehler OMIM 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0000006 OMIM:129550 IEA I 2009-02-17 HPO:curators OMIM 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0000684 OMIM:129550 IEA O 2009-02-17 HPO:curators OMIM 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0000818 OMIM:129550 IEA O 2009-02-17 HPO:curators OMIM 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0000966 OMIM:129550 IEA O 2009-02-17 HPO:curators OMIM 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0000968 OMIM:129550 IEA O 2015-01-14 HPO:skoehler OMIM 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0002164 OMIM:129550 IEA O 2009-02-17 HPO:curators OMIM 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0002557 OMIM:129550 IEA O 2009-02-17 HPO:curators OMIM 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST HP:0003187 OMIM:129550 IEA O 2009-02-17 HPO:curators OMIM 129600 ECTOPIA LENTIS, ISOLATED HP:0000006 OMIM:129600 IEA I 2009-02-17 HPO:curators OMIM 129600 ECTOPIA LENTIS, ISOLATED HP:0001083 OMIM:129600 IEA O 2009-02-17 HPO:curators OMIM 129750 ECTOPIA PUPILLAE HP:0000006 OMIM:129750 IEA I 2009-02-17 HPO:curators OMIM 129750 ECTOPIA PUPILLAE HP:0009918 OMIM:129750 IEA O 2015-01-21 HPO:skoehler OMIM 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE HP:0000006 OMIM:129810 IEA I 2009-02-17 HPO:curators OMIM 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE HP:0000164 OMIM:129810 IEA O 2009-02-17 HPO:curators OMIM 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE HP:0000968 OMIM:129810 IEA O 2009-02-17 HPO:curators OMIM 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE HP:0001006 OMIM:129810 IEA O 2009-02-17 HPO:curators OMIM 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE HP:0001171 OMIM:129810 IEA O 2010-06-20 HPO:skoehler OMIM 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE HP:0001839 OMIM:129810 IEA O 2010-06-20 HPO:skoehler OMIM 129830 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME;;ECP SYNDROME HP:0000006 OMIM:129830 IEA I 2009-02-17 HPO:curators OMIM 129830 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME;;ECP SYNDROME HP:0000175 OMIM:129830 IEA O 2009-02-17 HPO:curators OMIM 129830 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME;;ECP SYNDROME HP:0000951 OMIM:129830 IEA O 2009-02-17 HPO:curators OMIM 129830 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME;;ECP SYNDROME HP:0001171 OMIM:129830 IEA O 2009-02-17 HPO:curators OMIM 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL HP:0000006 OMIM:129840 IEA I 2009-02-17 HPO:curators OMIM 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL HP:0000119 OMIM:129840 IEA O 2009-02-17 HPO:curators OMIM 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL HP:0000737 OMIM:129840 IEA O 2009-02-17 HPO:curators OMIM 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL HP:0000819 OMIM:129840 IEA O 2009-02-17 HPO:curators OMIM 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL HP:0000969 OMIM:129840 IEA O 2010-06-20 HPO:skoehler OMIM 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL HP:0002013 OMIM:129840 IEA O 2010-06-20 HPO:skoehler OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0000006 OMIM:129850 IEA I 2009-02-17 HPO:curators OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0000238 OMIM:129850 IEA O 2009-02-17 HPO:curators OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0000271 OMIM:129850 IEA O 2009-02-17 HPO:curators OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0000952 OMIM:129850 IEA O 2009-02-17 HPO:curators OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0001249 OMIM:129850 IEA O 2010-06-18 HPO:skoehler OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0001270 OMIM:129850 IEA O 2009-02-17 HPO:curators OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0001508 OMIM:129850 IEA O 2009-02-17 HPO:curators OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0001522 OMIM:129850 IEA M 2009-02-17 HPO:curators OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0003265 OMIM:129850 IEA O 2009-02-17 HPO:curators OMIM 129850 EDINBURGH MALFORMATION SYNDROME HP:0005616 OMIM:129850 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000015 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000023 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000028 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000044 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000054 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000070 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000072 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000076 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000081 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000104 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000110 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000126 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000143 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000145 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000175 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000198 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000204 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000217 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000252 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000272 OMIM:129900 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000316 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000327 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000405 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000437 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000453 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000455 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000498 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000506 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000535 OMIM:129900 PCS O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000581 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000613 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000620 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000635 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000653 OMIM:129900 PCS O 2012-03-01 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000670 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000677 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000691 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000824 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000863 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000962 OMIM:129900 PCS O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000963 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0000968 OMIM:129900 IEA O 2015-01-14 HPO:skoehler OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001161 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001171 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001249 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001425 OMIM:129900 IEA I 2012-10-17 HPO:skoehler OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001592 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001739 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001770 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001803 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0001839 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002023 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002205 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002209 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002215 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002225 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002286 OMIM:129900 IEA O 2012-10-17 HPO:skoehler OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002507 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0002557 IEA O 2009-02-17 HPO:curators OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0007513 OMIM:129900 IEA O 2012-10-17 HPO:skoehler OMIM 129900 %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1 HP:0008551 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000006 PMID:9557891 PCS I 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000023 PMID:9557891 PCS O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000286 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000394 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000545 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000592 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000974 PMID:9557891 PCS O 2017-06-16 HPO:probinson OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000977 PMID:9557891 PCS O 2010-06-18 HPO:skoehler OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000978 PMID:9557891 PCS O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0000993 PMID:9557891PMID:9557891 PCS O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001030 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001058 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001073 OMIM:130000,PMID:9557891 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001083 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001187 PMID:9557891 PCS O 2017-06-16 HPO:probinson OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001373 OMIM:130000 IEA O 2010-06-20 HPO:skoehler OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001537 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001634 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0001763 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0002010 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0002616 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0002758 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0004322 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0005100 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0005222 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0006316 OMIM:130000 IEA O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0008947 PMID:9557891 PCS O 2009-02-17 HPO:curators OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0010485 PMID:9557891 PCS O 2017-06-16 HPO:probinson OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0010500 PMID:9557891 PCS O 2017-06-16 HPO:probinson OMIM 130000 EHLERS-DANLOS SYNDROME, TYPE I HP:0025014 PMID:9557891 PCS O 2017-06-16 HPO:probinson OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0000006 OMIM:130020 IEA I 2009-02-17 HPO:curators OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0000974 OMIM:130020 IEA O 2009-02-17 HPO:curators OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0000977 OMIM:130020 IEA O 2009-02-17 HPO:curators OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0001065 OMIM:130020 IEA O 2010-06-20 HPO:skoehler OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0001373 OMIM:130020 IEA O 2009-02-17 HPO:curators OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0001382 OMIM:130020 IEA O 2017-07-13 HPO:skoehler OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0001388 OMIM:130020 IEA O 2010-06-20 HPO:skoehler OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0001634 OMIM:130020 IEA O 2009-02-17 HPO:curators OMIM 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE HP:0002758 OMIM:130020 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000006 OMIM:130050 IEA I 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000023 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000079 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000139 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000233 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000387 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000563 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000704 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000978 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0000993 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0001030 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0001073 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0001634 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0001762 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0001842 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0002105 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0002108 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0002293 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0004322 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0004944 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0005267 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0006201 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0006480 OMIM:130050 IEA O 2010-06-20 HPO:skoehler OMIM 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT HP:0009771 OMIM:130050 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0000006 OMIM:130060 IEA I 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0000272 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0000938 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0000974 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0000977 OMIM:130060 IEA O 2010-06-20 HPO:skoehler OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0000978 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0001058 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0001075 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0001290 OMIM:130060 IEA O 2017-07-13 HPO:skoehler OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0001388 OMIM:130060 IEA O 2010-06-20 HPO:skoehler OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0001623 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0002194 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0002650 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0002659 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0002808 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0003088 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0003502 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0008780 OMIM:130060 IEA O 2009-02-17 HPO:curators OMIM 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT HP:0011800 OMIM:130060 IEA O 2013-11-28 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000007 OMIM:130070 IEA I 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000160 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000175 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000193 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000256 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000274 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000316 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000369 OMIM:130070 IEA O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000387 OMIM:130070 TAS O 2015-02-02 HPO:probinson OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000431 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000520 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000592 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000768 OMIM:130070 IEA O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000774 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000894 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000938 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0000954 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0001075 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0001166 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0001290 OMIM:130070 IEA O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0001388 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0001508 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0001762 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0001763 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0001772 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0002209 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0002650 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0002673 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0002816 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0002974 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0004322 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0005616 OMIM:130070 IEA O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0006243 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0006487 OMIM:130070 IEA O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0007469 OMIM:130070 IEA O 2009-02-17 HPO:curators OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0010511 OMIM:130070 TAS O 2013-08-10 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0011308 OMIM:130070 TAS O 2013-08-10 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0011342 OMIM:130070 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130070 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES HP:0011800 OMIM:130070 IEA O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000006 OMIM:130080 IEA I 2009-02-17 HPO:curators OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000023 OMIM:130080 IEA O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000098 OMIM:130080 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000225 OMIM:130080 IEA O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000592 OMIM:130080 IEA O 2009-02-17 HPO:curators OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000704 OMIM:130080 IEA O 2009-02-17 HPO:curators OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000963 OMIM:130080 IEA O 2009-02-17 HPO:curators OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000974 OMIM:130080 IEA O 2012-10-17 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000977 OMIM:130080 IEA O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000978 OMIM:130080 IEA O 2010-06-20 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0001058 OMIM:130080 IEA O 2009-02-17 HPO:curators OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0001075 OMIM:130080 IEA O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0001166 OMIM:130080 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0001388 OMIM:130080 IEA O 2009-02-17 HPO:curators OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0001609 OMIM:130080 IEA O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0002650 OMIM:130080 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0002719 OMIM:130080 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0002761 OMIM:130080 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0002960 OMIM:130080 IEA O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0006480 OMIM:130080 IEA O 2009-02-17 HPO:curators OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0007517 OMIM:130080 IEA O 2010-06-18 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0030816 OMIM:130080 IEA O 2017-07-13 HPO:skoehler OMIM 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0410027 OMIM:130080 IEA O 2017-07-13 HPO:skoehler OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0000006 TAS I 2015-12-30 HPO:skoehler OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0000324 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0000347 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0000426 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0000974 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0000976 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0001073 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0001388 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0001425 OMIM:130090 IEA I 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0001438 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0001654 OMIM:130090 IEA O 2009-02-17 HPO:skoehler OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0002099 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0002622 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0003423 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0005656 OMIM:130090 IEA O 2009-02-17 HPO:curators OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0100790 OMIM:130090 IEA O 2013-05-29 HPO:skoehler OMIM 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED HP:0200146 OMIM:130090 IEA O 2013-06-13 HPO:skoehler OMIM 130100 ELASTOSIS PERFORANS SERPIGINOSA HP:0000006 OMIM:130100 IEA I 2009-02-17 HPO:curators OMIM 130100 ELASTOSIS PERFORANS SERPIGINOSA HP:0003764 OMIM:130100 IEA O 2009-02-17 HPO:skoehler OMIM 130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE HP:0000006 OMIM:130180 TAS I 2009-02-17 HPO:curators OMIM 130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE HP:0011181 OMIM:130180 TAS O 2017-06-16 HPO:probinson OMIM 130190 ELECTROENCEPHALOGRAPHIC PATTERNS HP:0000006 OMIM:130190 IEA I 2009-02-17 HPO:curators OMIM 130190 ELECTROENCEPHALOGRAPHIC PATTERNS HP:0002353 OMIM:130190 IEA O 2009-02-17 HPO:skoehler OMIM 130200 ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKEPHENOMENON HP:0000006 OMIM:130200 IEA I 2009-02-17 HPO:curators OMIM 130200 ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKEPHENOMENON HP:0002353 OMIM:130200 IEA O 2009-02-17 HPO:skoehler OMIM 130300 ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS HP:0000006 OMIM:130300 IEA I 2009-02-17 HPO:curators OMIM 130300 ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS HP:0002353 OMIM:130300 IEA O 2009-02-17 HPO:skoehler OMIM 130400 ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES HP:0000006 OMIM:130400 IEA I 2009-02-17 HPO:curators OMIM 130400 ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES HP:0002353 OMIM:130400 IEA O 2009-02-17 HPO:skoehler OMIM 130600 #130600 ELLIPTOCYTOSIS 2; EL2;;ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE HP:0000006 OMIM:130600 TAS I 2009-02-17 HPO:probinson OMIM 130600 #130600 ELLIPTOCYTOSIS 2; EL2;;ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE HP:0001425 OMIM:130600 IEA I 2012-10-17 HPO:skoehler OMIM 130600 #130600 ELLIPTOCYTOSIS 2; EL2;;ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE HP:0004445 OMIM:130600 TAS O 2009-02-17 HPO:probinson OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000006 OMIM:130650 TAS I 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000028 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000076 OMIM:130650 IEA O 2017-07-13 HPO:skoehler OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000105 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000121 OMIM:130650 IEA O 2017-07-13 HPO:skoehler OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000150 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000158 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000239 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000269 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000280 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000520 PMID:23511928 PCS O 2009-02-17 HPO:probinson OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000787 OMIM:130650 IEA O 2017-07-13 HPO:skoehler OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0000803 OMIM:130650 IEA O 2017-07-13 HPO:skoehler OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001052 OMIM:130650 IEA O 2017-07-13 HPO:skoehler OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001305 OMIM:130650 IEA O 2012-11-18 HPO:skoehler OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001528 OMIM:130650 TAS O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001539 OMIM:130650 TAS O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001540 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001548 OMIM:130650 TAS O 2010-06-20 HPO:skoehler OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001638 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001640 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0001998 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0002240 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0002667 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0002884 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0003247 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0005487 OMIM:130650 TAS O 0030-11-07 HPO:probinson OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0005616 OMIM:130650 IEA O 2010-06-20 HPO:skoehler OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0006277 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0006744 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0008186 OMIM:130650 IEA O 2009-02-17 HPO:curators OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0008523 PMID: 17223397 PCS O 2009-02-17 HPO:probinson OMIM 130650 BECKWITH-WIEDEMANN SYNDROME HP:0011800 OMIM:130650 IEA O 2017-07-13 HPO:skoehler OMIM 130700 EMPHYSEMA, HEREDITARY PULMONARY HP:0002097 OMIM:130700 IEA O 2009-02-17 HPO:curators OMIM 130700 EMPHYSEMA, HEREDITARY PULMONARY HP:0004469 OMIM:130700 IEA O 2009-02-17 HPO:curators OMIM 130700 EMPHYSEMA, HEREDITARY PULMONARY HP:0006510 OMIM:130700 IEA O 2009-02-17 HPO:curators OMIM 130710 EMPHYSEMA, CONGENITAL LOBAR HP:0000006 OMIM:130710 IEA I 2009-02-17 HPO:curators OMIM 130710 EMPHYSEMA, CONGENITAL LOBAR HP:0002098 OMIM:130710 IEA O 2010-06-20 HPO:skoehler OMIM 130710 EMPHYSEMA, CONGENITAL LOBAR HP:0006539 OMIM:130710 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000006 OMIM:130720 IEA I 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000023 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000028 OMIM:130720 IEA O 2015-12-30 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000218 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000268 OMIM:130720 IEA O 2015-12-30 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000272 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000316 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000319 OMIM:130720 TAS O 2012-05-01 HPO:probinson OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000343 OMIM:130720 TAS O 2012-05-01 HPO:probinson OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000347 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000358 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000369 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000405 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000470 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000494 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000508 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000678 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000767 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0000951 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0001270 OMIM:130720 IEA O 2015-12-30 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0001290 OMIM:130720 IEA O 2017-07-13 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0001382 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0001537 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0001547 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0001643 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0001647 OMIM:130720 IEA HP:0040283 O 2015-12-30 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0002208 OMIM:130720 IEA O 2015-12-30 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0002435 OMIM:130720 IEA O 2010-06-20 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0002645 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0002650 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0002691 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0002694 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0002808 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0002948 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0003194 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0003396 OMIM:130720 IEA O 2015-12-30 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0004322 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0004452 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0004586 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0007099 OMIM:130720 IEA O 2009-02-17 HPO:curators OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0100702 OMIM:130720 IEA O 2012-10-17 HPO:skoehler OMIM 130720 LATERAL MENINGOCELE SYNDROME HP:0100775 OMIM:130720 IEA O 2012-10-17 HPO:skoehler OMIM 130900 #130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3;;AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT;ADHCAI;;AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE HP:0000006 OMIM:130900 IEA I 2009-02-17 HPO:curators OMIM 130900 #130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3;;AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT;ADHCAI;;AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE HP:0000689 OMIM:130900 IEA O 2010-06-20 HPO:skoehler OMIM 130900 #130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3;;AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT;ADHCAI;;AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE HP:0000705 OMIM:130900 IEA O 2010-06-20 HPO:skoehler OMIM 130900 #130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3;;AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT;ADHCAI;;AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE HP:0200095 OMIM:130900 IEA O 2013-06-04 HPO:skoehler OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0000006 OMIM:130950 IEA I 2009-02-17 HPO:curators OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0001254 OMIM:130950 IEA O 2009-02-17 HPO:curators OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0001260 OMIM:130950 IEA O 2012-10-17 HPO:skoehler OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0001266 OMIM:130950 IEA O 2012-10-17 HPO:skoehler OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0001284 OMIM:130950 IEA O 2009-02-17 HPO:curators OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0001290 OMIM:130950 IEA O 2017-07-13 HPO:skoehler OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0002078 OMIM:130950 IEA O 2009-02-17 HPO:curators OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0002080 OMIM:130950 IEA O 2012-10-17 HPO:skoehler OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0002305 OMIM:130950 IEA O 2009-02-17 HPO:curators OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0002311 OMIM:130950 IEA O 2012-10-17 HPO:skoehler OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0003487 OMIM:130950 IEA HP:0040282 O 2012-11-28 HPO:skoehler OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0007335 OMIM:130950 TAS O 2012-06-18 HPO:probinson OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0000006 OMIM:131100 IEA I 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0000820 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0000845 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0000957 OMIM:131100 IEA O 2012-10-17 HPO:skoehler OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0001031 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0001943 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0002014 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0002044 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0002893 OMIM:131100 IEA O 2010-06-18 HPO:skoehler OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0002897 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0003072 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0003118 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0004398 OMIM:131100 IEA O 2010-06-20 HPO:skoehler OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0006767 OMIM:131100 TAS O 2009-02-17 HPO:probinson OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0007449 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0008256 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0009720 OMIM:131100 IEA O 2009-02-17 HPO:curators OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0012197 OMIM:131100 IEA O 2013-03-15 HPO:skoehler OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0030404 OMIM:131100 IEA O 2015-06-22 HPO:skoehler OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0040278 OMIM:131100 IEA O 2017-07-13 HPO:skoehler OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0100570 OMIM:131100 IEA O 2013-05-31 HPO:skoehler OMIM 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I HP:0100633 OMIM:131100 IEA O 2012-10-17 HPO:skoehler OMIM 131200 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1 HP:0000007 OMIM:131200 IEA I 2009-02-17 HPO:curators OMIM 131200 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1 HP:0000144 OMIM:131200 IEA O 2009-02-17 HPO:curators OMIM 131200 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1 HP:0001426 OMIM:131200 IEA I 2009-02-17 HPO:curators OMIM 131200 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1 HP:0030127 OMIM:131200 IEA O 2014-09-21 HPO:skoehler OMIM 131200 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1 SEVERE HP:0100607 OMIM:131200 IEA O 2013-06-06 HPO:skoehler OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0000006 PMID:15894597 TAS I 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0000303 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ced TAS HP:0003581 O 2009-12-02 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0000365 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0000520 PMID:15894597 TAS HP:0003581 O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0000651 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0000670 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ced TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0000823 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0001324 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0001533 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0001903 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ced TAS HP:0040283 O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0002315 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0002515 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ced TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0002650 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ced TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0002694 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0002857 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0003034 ISBN-13:978-3437214301 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0003202 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0003388 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0003621 PMID:15894597 TAS C 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0003758 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0004396 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0005528 OMIM:131300 IEA O 2012-10-17 HPO:skoehler OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0005791 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0007807 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ced TAS O 2009-02-17 HPO:curators OMIM 131300 #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD HP:0009763 PMID:15894597 TAS O 2009-02-17 HPO:curators OMIM 131400 EOSINOPHILIA, FAMILIAL HP:0000006 OMIM:131400 IEA I 2009-02-17 HPO:curators OMIM 131400 EOSINOPHILIA, FAMILIAL HP:0001880 OMIM:131400 IEA O 2009-02-17 HPO:curators OMIM 131430 EOSINOPHILOPENIA HP:0001871 OMIM:131430 IEA O 2009-02-17 HPO:curators OMIM 131430 EOSINOPHILOPENIA HP:0002715 OMIM:131430 IEA O 2009-02-17 HPO:curators OMIM 131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA HP:0000006 OMIM:131440 TAS I 2009-02-17 HPO:skoehler OMIM 131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA HP:0001880 OMIM:131440 IEA O 2015-01-27 HPO:skoehler OMIM 131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA HP:0005547 OMIM:131440 TAS O 2009-02-17 HPO:skoehler OMIM 131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA HP:0006782 OMIM:131440 TAS O 2009-02-17 HPO:skoehler OMIM 131450 EPIBLEPHARON OF LOWER LID HP:0000006 OMIM:131450 IEA I 2009-02-17 HPO:curators OMIM 131450 EPIBLEPHARON OF LOWER LID HP:0011225 OMIM:131450 TAS O 2015-01-21 HPO:skoehler OMIM 131450 EPIBLEPHARON OF LOWER LID HP:0040151 OMIM:131450 IEA O 2015-01-27 HPO:skoehler OMIM 131460 EPIBLEPHARON OF UPPER LID HP:0000006 OMIM:131460 IEA I 2009-02-17 HPO:curators OMIM 131460 EPIBLEPHARON OF UPPER LID HP:0000478 OMIM:131460 IEA O 2009-02-17 HPO:curators OMIM 131460 EPIBLEPHARON OF UPPER LID HP:0040150 OMIM:131460 IEA O 2015-01-27 HPO:skoehler OMIM 131500 EPICANTHUS HP:0000006 OMIM:131500 TAS I 2009-02-17 HPO:probinson OMIM 131500 EPICANTHUS HP:0000286 OMIM:131500 TAS O 2009-02-17 HPO:probinson OMIM 131600 131600 EPIDERMOID CYSTS HP:0000006 OMIM:131600 IEA I 2009-02-17 HPO:curators OMIM 131600 131600 EPIDERMOID CYSTS HP:0200040 OMIM:131600 IEA O 2014-02-06 HPO:skoehler OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0000006 OMIM:131705 TAS I 2009-02-17 HPO:probinson OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0000007 OMIM:131705 TAS I 2009-02-17 HPO:probinson OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001030 OMIM:131705 TAS O 2009-02-17 HPO:probinson OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001056 OMIM:131705 TAS O 2009-02-17 HPO:probinson OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001075 OMIM:131705 TAS O 2015-02-02 HPO:probinson OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0001939 OMIM:131705 IEA O 2009-02-17 HPO:probinson OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0003577 OMIM:131705 TAS C 2009-02-17 HPO:probinson OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0008066 OMIM:131705 TAS O 2012-10-17 HPO:skoehler OMIM 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN HP:0008404 OMIM:131705 TAS O 2013-05-03 HPO:skoehler OMIM 131750 #131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;;ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDDEPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED;EBDSC, INCLUDED HP:0000006 OMIM:131750 TAS I 2009-02-17 HPO:probinson OMIM 131750 #131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;;ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDDEPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED;EBDSC, INCLUDED HP:0001056 OMIM:131750 TAS O 2009-02-17 HPO:probinson OMIM 131750 #131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;;ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDDEPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED;EBDSC, INCLUDED HP:0001075 OMIM:131750 TAS O 2009-02-17 HPO:probinson OMIM 131750 #131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;;ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDDEPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED;EBDSC, INCLUDED HP:0002164 OMIM:131750 TAS O 2012-07-31 HPO:probinson OMIM 131750 #131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;;ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDDEPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED;EBDSC, INCLUDED HP:0003577 OMIM:131750 TAS C 2009-02-17 HPO:probinson OMIM 131750 #131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;;ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDDEPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED;EBDSC, INCLUDED HP:0008066 OMIM:131750 TAS O 2012-07-31 HPO:probinson OMIM 131750 #131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;;ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDDEPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED;EBDSC, INCLUDED HP:0008404 OMIM:131750 IEA O 2013-05-03 HPO:skoehler OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0000006 OMIM:131760 TAS I 2009-02-17 HPO:probinson OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0000972 OMIM:131760 TAS O 2009-02-17 HPO:probinson OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001056 OMIM:131760 TAS O 2009-02-17 HPO:probinson OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001075 OMIM:131760 TAS HP:0040283 O 2015-02-15 HPO:skoehler OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0001510 OMIM:131760 TAS O 2010-06-18 HPO:skoehler OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0002164 OMIM:131760 TAS O 2010-06-18 HPO:skoehler OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0003623 OMIM:131760 TAS C 2015-02-15 HPO:probinson OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0008066 OMIM:131760 TAS O 2010-06-20 HPO:skoehler OMIM 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE HP:0008404 OMIM:131760 TAS O 2013-05-03 HPO:skoehler OMIM 131800 EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE HP:0000006 OMIM:131800 IEA I 2009-02-17 HPO:curators OMIM 131800 EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE HP:0000962 OMIM:131800 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 131800 EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE HP:0001056 OMIM:131800 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 131800 EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE HP:0007446 OMIM:131800 IEA O 2009-02-17 HPO:curators OMIM 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL HP:0000006 OMIM:131850 IEA I 2009-02-17 HPO:curators OMIM 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL HP:0000007 OMIM:131850 IEA I 2017-07-13 HPO:skoehler OMIM 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL HP:0000962 OMIM:131850 IEA O 2017-07-13 HPO:skoehler OMIM 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL HP:0000989 OMIM:131850 IEA O 2017-07-13 HPO:skoehler OMIM 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL HP:0008404 OMIM:131850 IEA O 2017-07-13 HPO:skoehler OMIM 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL HP:0012221 OMIM:131850 IEA O 2013-04-02 HPO:skoehler OMIM 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE HP:0000006 OMIM:131880 TAS I 2009-02-17 HPO:probinson OMIM 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE HP:0003593 OMIM:131880 TAS C 2009-02-17 HPO:probinson OMIM 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE HP:0008066 OMIM:131880 TAS O 2013-12-16 HPO:probinson OMIM 131900 #131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED;;EBS, GENERALIZED;;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE HP:0000006 OMIM:131900 IEA I 2009-02-17 HPO:curators OMIM 131900 #131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED;;EBS, GENERALIZED;;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE HP:0000972 OMIM:131900 IEA O 2010-06-18 HPO:skoehler OMIM 131900 #131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED;;EBS, GENERALIZED;;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE HP:0001056 OMIM:131900 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 131900 #131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED;;EBS, GENERALIZED;;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE HP:0002164 OMIM:131900 IEA HP:0040283 O 2010-06-20 HPO:skoehler OMIM 131900 #131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED;;EBS, GENERALIZED;;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE HP:0008066 OMIM:131900 IEA O 2010-06-20 HPO:skoehler OMIM 131900 #131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED;;EBS, GENERALIZED;;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE HP:0008404 OMIM:131900 IEA HP:0040283 O 2013-05-03 HPO:skoehler OMIM 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE HP:0000006 OMIM:131950 IEA I 2009-02-17 HPO:curators OMIM 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE HP:0000978 OMIM:131950 IEA O 2009-02-17 HPO:curators OMIM 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE HP:0007585 OMIM:131950 IEA O 2009-02-17 HPO:curators OMIM 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE HP:0008401 OMIM:131950 IEA O 2009-02-17 HPO:curators OMIM 131960 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING HP:0000006 OMIM:131960 IEA I 2009-02-17 HPO:curators OMIM 131960 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING HP:0001805 OMIM:131960 IEA O 2009-02-17 HPO:curators OMIM 131960 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING HP:0002164 OMIM:131960 IEA O 2009-02-17 HPO:curators OMIM 131960 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING HP:0007438 OMIM:131960 IEA O 2009-02-17 HPO:curators OMIM 131960 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING HP:0007494 OMIM:131960 IEA O 2009-02-17 HPO:curators OMIM 131960 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING HP:0007530 OMIM:131960 IEA O 2009-02-17 HPO:curators OMIM 131960 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING HP:0008066 OMIM:131960 TAS O 2012-07-19 HPO:probinson OMIM 131960 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING HP:0008404 OMIM:131960 IEA O 2013-05-03 HPO:skoehler OMIM 132000 #132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN ANDDEFORMITY OF NAILS;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE HP:0000006 OMIM:132000 IEA I 2009-02-17 HPO:curators OMIM 132000 #132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN ANDDEFORMITY OF NAILS;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE HP:0001030 OMIM:132000 IEA O 2009-02-17 HPO:curators OMIM 132000 #132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN ANDDEFORMITY OF NAILS;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE HP:0002164 OMIM:132000 IEA O 2009-02-17 HPO:curators OMIM 132000 #132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN ANDDEFORMITY OF NAILS;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE HP:0007383 OMIM:132000 IEA O 2009-02-17 HPO:curators OMIM 132000 #132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN ANDDEFORMITY OF NAILS;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE HP:0008404 OMIM:132000 IEA O 2013-05-03 HPO:skoehler OMIM 132090 EPILEPSY, BENIGN OCCIPITAL HP:0000006 OMIM:132090 TAS I 2009-02-17 HPO:skoehler OMIM 132090 EPILEPSY, BENIGN OCCIPITAL HP:0001250 OMIM:132090 TAS O 2009-02-17 HPO:skoehler OMIM 132090 EPILEPSY, BENIGN OCCIPITAL HP:0002353 OMIM:132090 TAS O 2009-02-17 HPO:skoehler OMIM 132100 PHOTOPAROXYSMAL RESPONSE 1; PPR1 HP:0000006 OMIM:132100 TAS I 2013-04-05 HPO:probinson OMIM 132100 PHOTOPAROXYSMAL RESPONSE 1; PPR1 HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 132100 PHOTOPAROXYSMAL RESPONSE 1; PPR1 HP:0003831 OMIM:132100 TAS C 2012-10-17 HPO:skoehler OMIM 132100 PHOTOPAROXYSMAL RESPONSE 1; PPR1 HP:0010852 OMIM:132100 TAS O 2013-04-05 HPO:probinson OMIM 132300 EPILEPSY, READING HP:0000006 OMIM:132300 TAS I 2009-02-17 HPO:curators OMIM 132300 EPILEPSY, READING HP:0001250 OMIM:132300 TAS O 2009-02-17 HPO:probinson OMIM 132300 EPILEPSY, READING HP:0002353 OMIM:132300 TAS O 2015-02-15 HPO:probinson OMIM 132300 EPILEPSY, READING HP:0003621 OMIM:132300 TAS C 2009-02-17 HPO:curators OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0000006 OMIM:132400 TAS I 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0001387 OMIM:132400 TAS O 2010-06-20 HPO:skoehler OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0001425 TAS I 2015-12-30 HPO:skoehler OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0002515 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0002656 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0002663 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0002761 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0002857 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0003300 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0003301 OMIM:132400 TAS O 2012-05-05 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0003502 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0003510 OMIM:132400 IEA O 2017-07-13 HPO:skoehler OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0005743 OMIM:132400 TAS O 2012-07-28 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0006429 OMIM:132400 TAS O 2012-06-08 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0008800 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0008843 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0008873 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0009803 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0010049 OMIM:132400 TAS O 2009-02-17 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0010582 OMIM:132400 TAS O 2012-06-18 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0010585 OMIM:132400 TAS O 2012-06-18 HPO:probinson OMIM 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 HP:0100864 OMIM:132400 TAS O 2012-06-08 HPO:probinson OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0000006 OMIM:132450 IEA I 2009-02-17 HPO:curators OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0000160 OMIM:132450 IEA O 2014-11-26 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0000311 OMIM:132450 TAS O 2013-02-25 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0000405 OMIM:132450 IEA O 2009-02-17 HPO:curators OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0000518 OMIM:132450 TAS O 2009-02-17 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0000545 OMIM:132450 IEA O 2009-02-17 HPO:curators OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0001156 OMIM:132450 IEA O 2014-11-26 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0002656 OMIM:132450 IEA O 2009-02-17 HPO:curators OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0002673 OMIM:132450 TAS O 2013-05-31 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0002857 OMIM:132450 TAS O 2013-02-25 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0004322 OMIM:132450 TAS O 2013-02-25 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0009803 OMIM:132450 TAS O 2013-02-25 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0012368 OMIM:132450 TAS O 2013-10-22 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0030329 OMIM:132450 IEA O 2015-04-26 HPO:skoehler OMIM 132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0030672 OMIM:132450 IEA O 2015-12-30 HPO:skoehler OMIM 132500 EPISTAXIS, HEREDITARY HP:0000006 OMIM:132500 IEA I 2009-02-17 HPO:curators OMIM 132500 EPISTAXIS, HEREDITARY HP:0000421 OMIM:132500 IEA O 2009-02-17 HPO:curators OMIM 132600 #132600 PILOMATRIXOMA;;PILOMATRICOMA; PTR;;EPITHELIOMA CALCIFICANS OF MALHERBE HP:0000006 OMIM:132600 IEA I 2009-02-17 HPO:curators OMIM 132600 #132600 PILOMATRIXOMA;;PILOMATRICOMA; PTR;;EPITHELIOMA CALCIFICANS OF MALHERBE HP:0001428 OMIM:132600 IEA I 2009-02-17 HPO:curators OMIM 132600 #132600 PILOMATRIXOMA;;PILOMATRICOMA; PTR;;EPITHELIOMA CALCIFICANS OF MALHERBE HP:0030434 OMIM:132600 IEA O 2015-07-26 HPO:skoehler OMIM 132700 CYLINDROMATOSIS, FAMILIAL HP:0000006 OMIM:132700 IEA I 2009-02-17 HPO:curators OMIM 132700 CYLINDROMATOSIS, FAMILIAL HP:0003581 OMIM:132700 IEA C 2009-02-17 HPO:curators OMIM 132700 CYLINDROMATOSIS, FAMILIAL HP:0008069 OMIM:132700 IEA O 2009-02-17 HPO:skoehler OMIM 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA HP:0000006 OMIM:132800 IEA I 2009-02-17 HPO:curators OMIM 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA HP:0000951 OMIM:132800 IEA O 2009-02-17 HPO:curators OMIM 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA HP:0002664 OMIM:132800 IEA O 2009-02-17 HPO:curators OMIM 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA HP:0003674 OMIM:132800 IEA C 2009-02-17 HPO:curators OMIM 132810 EPOXIDE HYDROLASE 1, MICROSOMAL HP:0000006 OMIM:132810 IEA I 2009-02-17 HPO:curators OMIM 132810 EPOXIDE HYDROLASE 1, MICROSOMAL HP:0001939 OMIM:132810 IEA O 2009-02-17 HPO:curators OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0000006 OMIM:132900 TAS I 2009-02-17 HPO:probinson OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0001297 OMIM:132900 IEA HP:0040283 O 2013-04-18 HPO:skoehler OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0001643 OMIM:132900 IEA O 2013-04-18 HPO:skoehler OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0001647 OMIM:132900 TAS O 2010-06-20 HPO:skoehler OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0001659 OMIM:132900 IEA O 2013-04-18 HPO:skoehler OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0001677 OMIM:132900 IEA HP:0040283 O 2013-04-18 HPO:skoehler OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0002622 OMIM:132900 TAS O 2009-02-17 HPO:probinson OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0005162 OMIM:132900 IEA O 2017-07-13 HPO:skoehler OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0008034 OMIM:132900 TAS O 2012-07-25 HPO:probinson OMIM 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 HP:0012180 OMIM:132900 TAS O 2013-02-24 HPO:probinson OMIM 132990 ERYTHEMA NODOSUM, FAMILIAL HP:0000006 OMIM:132990 IEA I 2009-02-17 HPO:curators OMIM 132990 ERYTHEMA NODOSUM, FAMILIAL HP:0010783 OMIM:132990 IEA O 2010-06-20 HPO:skoehler OMIM 132990 ERYTHEMA NODOSUM, FAMILIAL HP:0012219 OMIM:132990 IEA O 2015-01-27 HPO:skoehler OMIM 133000 ERYTHEMA PALMARE HEREDITARIUM HP:0000006 OMIM:133000 IEA I 2009-02-17 HPO:curators OMIM 133000 ERYTHEMA PALMARE HEREDITARIUM HP:0010783 OMIM:133000 IEA O 2010-06-20 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0000006 OMIM:133020 IEA I 2009-02-17 HPO:curators OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0000217 OMIM:133020 TAS O 2012-10-17 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0000622 OMIM:133020 TAS O 2012-10-17 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0000975 OMIM:133020 TAS O 2012-10-17 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0001097 OMIM:133020 IEA O 2017-07-13 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0001962 OMIM:133020 TAS O 2012-10-17 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0002014 OMIM:133020 TAS O 2012-10-17 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0002019 OMIM:133020 TAS O 2012-10-17 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0002459 OMIM:133020 IEA HP:0040283 O 2014-11-26 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0003011 OMIM:133020 IEA O 2009-02-17 HPO:curators OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0003326 OMIM:133020 TAS O 2012-10-17 HPO:skoehler OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0003621 OMIM:133020 IEA C 2009-02-17 HPO:curators OMIM 133020 ERYTHERMALGIA, PRIMARY HP:0040264 OMIM:133020 IEA O 2017-07-13 HPO:skoehler OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0000006 OMIM:133100 IEA I 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0000822 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0001050 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0001342 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0001658 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0001744 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0001898 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0001899 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0001900 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0002315 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0002321 OMIM:133100 IEA O 2012-10-17 HPO:skoehler OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0002641 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0002875 OMIM:133100 IEA O 2009-02-17 HPO:curators OMIM 133100 #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN HP:0012378 OMIM:133100 IEA O 2013-10-22 HPO:skoehler OMIM 133180 ERYTHROLEUKEMIA, FAMILIAL HP:0000006 OMIM:133180 IEA I 2009-02-17 HPO:curators OMIM 133180 ERYTHROLEUKEMIA, FAMILIAL HP:0001909 OMIM:133180 IEA O 2010-06-20 HPO:skoehler OMIM 133180 ERYTHROLEUKEMIA, FAMILIAL HP:0004828 OMIM:133180 IEA O 2009-02-17 HPO:curators OMIM 133180 ERYTHROLEUKEMIA, FAMILIAL HP:0004828 OMIM:133180 TAS O 2013-04-05 HPO:probinson OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0000006 OMIM:133190 IEA I 2009-02-17 HPO:curators OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0000639 OMIM:133190 IEA O 2009-02-17 HPO:curators OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0000962 OMIM:133190 IEA O 2012-10-17 HPO:skoehler OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0001257 OMIM:133190 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0001260 OMIM:133190 IEA O 2009-02-17 HPO:curators OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0001265 OMIM:133190 IEA O 2009-02-17 HPO:curators OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0001272 OMIM:133190 IEA O 2014-08-24 HPO:skoehler OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0002066 OMIM:133190 IEA O 2012-10-17 HPO:skoehler OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0002075 OMIM:133190 IEA O 2012-10-17 HPO:skoehler OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0002080 OMIM:133190 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0002380 OMIM:133190 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 133190 SPINOCEREBELLAR ATAXIA 34 HP:0003829 TAS C 2015-12-30 HPO:skoehler OMIM 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 HP:0000006 OMIM:133200 TAS I 2009-02-17 HPO:curators OMIM 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 HP:0000007 OMIM:133200 TAS I 2012-10-17 HPO:skoehler OMIM 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 HP:0003593 OMIM:133200 TAS C 2009-02-17 HPO:curators OMIM 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 HP:0005588 OMIM:133200 TAS O 2009-02-17 HPO:curators OMIM 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 HP:0005595 OMIM:133200 TAS O 2009-02-17 HPO:curators OMIM 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 HP:0010783 OMIM:133200 TAS O 2010-06-20 HPO:skoehler OMIM 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 HP:0025092 OMIM:133200 IEA O 2017-07-13 HPO:skoehler OMIM 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 HP:0025114 OMIM:133200 IEA O 2017-07-13 HPO:skoehler OMIM 133239 ESOPHAGEAL CANCERESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED HP:0000006 OMIM:133239 IEA I 2009-02-17 HPO:curators OMIM 133239 ESOPHAGEAL CANCERESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED HP:0002860 OMIM:133239 IEA O 2015-01-27 HPO:skoehler OMIM 133240 ESOPHAGEAL RING, LOWER HP:0000006 OMIM:133240 IEA I 2009-02-17 HPO:curators OMIM 133240 ESOPHAGEAL RING, LOWER HP:0002015 OMIM:133240 IEA O 2009-02-17 HPO:curators OMIM 133240 ESOPHAGEAL RING, LOWER HP:0002036 OMIM:133240 IEA O 2009-02-17 HPO:curators OMIM 133500 EXCHONDROSIS OF PINNA, POSTERIOR HP:0000006 OMIM:133500 IEA I 2009-02-17 HPO:curators OMIM 133500 EXCHONDROSIS OF PINNA, POSTERIOR HP:0000598 OMIM:133500 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000007 OMIM:133540 IEA I 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000028 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000054 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000083 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000093 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000252 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000292 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000303 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000377 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000407 OMIM:133540 TAS O 2012-03-17 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000417 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000482 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000486 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000518 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000540 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000568 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000580 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000633 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000639 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000648 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000649 OMIM:133540 IEA O 2012-03-18 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000670 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000680 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000685 OMIM:133540 PCS O 2012-03-17 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000689 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000762 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000822 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000939 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000958 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000970 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000987 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0000992 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001000 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001249 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001250 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001251 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001271 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001324 OMIM:133540 TAS O 2012-04-11 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001337 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001376 OMIM:133540 PCS O 2012-03-17 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001511 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001518 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001525 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001595 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0001744 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0002059 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0002135 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0002240 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0002343 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0002545 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0002684 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0002808 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0002866 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0003130 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0003224 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0003278 OMIM:133540 TAS O 2013-04-08 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0003469 OMIM:133540 PCS O 2012-04-11 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0003510 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0003758 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0004334 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0005328 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0006958 OMIM:133540 IEA O 2012-03-18 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0007346 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0007352 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0007676 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0007759 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0008070 OMIM:133540 TAS O 2013-08-07 HPO:skoehler OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0008839 OMIM:133540 TAS O 2013-04-08 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0008897 OMIM:133540 PCS O 2012-03-17 HPO:probinson OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0010234 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0011359 OMIM:133540 TAS O 2013-08-07 HPO:skoehler OMIM 133540 #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2 HP:0011675 OMIM:133540 IEA O 2009-02-17 HPO:curators OMIM 133600 EXOSTOSES OF HEEL HP:0000006 OMIM:133600 IEA I 2009-02-17 HPO:curators OMIM 133600 EXOSTOSES OF HEEL HP:0100777 OMIM:133600 IEA O 2015-01-27 HPO:skoehler OMIM 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E HP:0000006 OMIM:133690 IEA I 2009-02-17 HPO:curators OMIM 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E HP:0002762 OMIM:133690 IEA O 2009-02-17 HPO:curators OMIM 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E HP:0004334 OMIM:133690 IEA O 2010-06-20 HPO:skoehler OMIM 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E HP:0005863 OMIM:133690 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0000006 OMIM:133700 IEA I 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0000896 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0000918 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0001760 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0002318 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0002812 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0002857 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0003068 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0003105 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0003276 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0003406 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0003621 OMIM:133700 IEA C 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0004322 OMIM:133700 IEA HP:0040282 O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0006765 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133700 EXOSTOSES, MULTIPLE, TYPE I HP:0010049 OMIM:133700 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0000006 OMIM:133701 IEA I 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0000896 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0000918 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0002318 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0002812 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0002857 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0003068 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0003105 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0003276 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0003406 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0003621 OMIM:133701 IEA C 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0004322 OMIM:133701 IEA HP:0040282 O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0006765 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133701 EXOSTOSES, MULTIPLE, TYPE II HP:0010049 OMIM:133701 IEA O 2009-02-17 HPO:curators OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0000006 OMIM:133705 IEA I 2009-02-17 HPO:curators OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0000286 OMIM:133705 IEA O 2015-12-30 HPO:skoehler OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0000405 OMIM:133705 IEA O 2015-12-30 HPO:skoehler OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0000413 OMIM:133705 IEA O 2009-02-17 HPO:curators OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0001374 OMIM:133705 IEA O 2015-12-30 HPO:skoehler OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0001838 OMIM:133705 IEA O 2009-02-17 HPO:curators OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0002021 OMIM:133705 IEA O 2009-02-17 HPO:curators OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0007598 OMIM:133705 IEA O 2012-10-17 HPO:skoehler OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0008033 OMIM:133705 IEA O 2009-02-17 HPO:curators OMIM 133705 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME HP:0009237 OMIM:133705 IEA O 2009-02-17 HPO:curators OMIM 133750 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 133750 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0000252 IEA O 2009-02-17 HPO:curators OMIM 133750 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0000953 OMIM:133750 PCS O 2012-03-18 HPO:probinson OMIM 133750 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0004322 OMIM:133750 PCS O 2012-03-18 HPO:probinson OMIM 133750 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0006682 OMIM:133750 IEA O 2012-10-17 HPO:skoehler OMIM 133750 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY HP:0006889 OMIM:133750 PCS O 2012-03-18 HPO:probinson OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0000006 OMIM:133780 IEA I 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0000523 OMIM:133780 IEA O 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0000541 OMIM:133780 IEA O 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0000618 OMIM:133780 IEA O 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0001146 OMIM:133780 IEA O 2014-05-09 HPO:skoehler OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0001147 OMIM:133780 IEA O 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0001489 OMIM:133780 IEA O 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0001493 OMIM:133780 IEA O 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0002757 OMIM:133780 IEA O 2012-10-17 HPO:skoehler OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0003593 OMIM:133780 IEA C 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0003677 OMIM:133780 IEA C 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0007663 OMIM:133780 IEA O 2015-07-26 HPO:skoehler OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0007685 OMIM:133780 IEA O 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0007902 OMIM:133780 IEA O 2009-02-17 HPO:curators OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0030490 OMIM:133780 IEA O 2015-08-05 HPO:skoehler OMIM 133780 #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED HP:0030666 OMIM:133780 IEA O 2015-12-30 HPO:skoehler OMIM 133800 EYEBROW, WHORL IN HP:0000006 OMIM:133800 IEA I 2017-07-13 HPO:skoehler OMIM 133900 HEMIFACIAL HYPERPLASIA HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 133900 HEMIFACIAL HYPERPLASIA HP:0000324 IEA O 2009-02-17 HPO:curators OMIM 133900 HEMIFACIAL HYPERPLASIA HP:0000327 IEA O 2009-02-17 HPO:curators OMIM 133900 HEMIFACIAL HYPERPLASIA HP:0000689 IEA O 2009-02-17 HPO:curators OMIM 134000 FACIAL HYPERTRICHOSIS HP:0000006 OMIM:134000 IEA I 2009-02-17 HPO:curators OMIM 134000 FACIAL HYPERTRICHOSIS HP:0002219 OMIM:134000 IEA O 2009-02-17 HPO:curators OMIM 134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL HP:0000006 OMIM:134200 IEA I 2009-02-17 HPO:curators OMIM 134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL HP:0010628 OMIM:134200 IEA O 2009-02-17 HPO:curators OMIM 134300 FACIAL SPASM HP:0000006 OMIM:134300 IEA I 2009-02-17 HPO:curators OMIM 134300 FACIAL SPASM HP:0001265 OMIM:134300 IEA O 2009-02-17 HPO:curators OMIM 134300 FACIAL SPASM HP:0009916 OMIM:134300 IEA O 2010-06-18 HPO:skoehler OMIM 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS HP:0000006 OMIM:134400 TAS I 2009-02-17 HPO:curators OMIM 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS HP:0002204 OMIM:134400 TAS O 2009-02-17 HPO:curators OMIM 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS HP:0004419 OMIM:134400 TAS O 2009-02-17 HPO:curators OMIM 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS HP:0004950 OMIM:134400 TAS O 2009-02-17 HPO:curators OMIM 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS HP:0011996 OMIM:134400 TAS O 2012-07-21 HPO:curators OMIM 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF HP:0000006 OMIM:134430 TAS I 2009-02-17 HPO:probinson OMIM 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF HP:0002584 OMIM:134430 TAS O 2010-06-20 HPO:skoehler OMIM 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF HP:0003125 OMIM:134430 TAS O 2012-05-26 HPO:probinson OMIM 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF HP:0008169 OMIM:134430 TAS O 2012-05-26 HPO:probinson OMIM 134500 FACTOR VIII DEFICIENCY HP:0000006 OMIM:134500 IEA I 2009-02-17 HPO:curators OMIM 134500 FACTOR VIII DEFICIENCY HP:0001892 OMIM:134500 IEA O 2009-02-17 HPO:curators OMIM 134500 FACTOR VIII DEFICIENCY HP:0003125 OMIM:134500 IEA O 2009-02-17 HPO:curators OMIM 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF HP:0000006 OMIM:134510 TAS I 2009-02-17 HPO:probinson OMIM 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF HP:0003125 OMIM:134510 TAS O 2012-05-26 HPO:probinson OMIM 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF HP:0011858 OMIM:134510 TAS O 2012-05-26 HPO:probinson OMIM 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF HP:0000006 OMIM:134520 IEA I 2009-02-17 HPO:curators OMIM 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF HP:0000978 OMIM:134520 IEA O 2009-02-17 HPO:curators OMIM 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF HP:0001373 OMIM:134520 IEA O 2009-02-17 HPO:curators OMIM 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF HP:0003645 OMIM:134520 IEA O 2009-02-17 HPO:curators OMIM 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF HP:0005261 OMIM:134520 IEA O 2009-02-17 HPO:curators OMIM 134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF HP:0000006 OMIM:134540 IEA I 2015-02-15 HPO:probinson OMIM 134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF HP:0001929 OMIM:134540 IEA O 2015-02-15 HPO:probinson OMIM 134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF HP:0011858 OMIM:134540 IEA O 2015-02-15 HPO:probinson OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0000006 OMIM:134600 IEA I 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0000083 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0000093 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0000124 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0001324 OMIM:134600 TAS HP:0003581 O 2010-06-20 HPO:skoehler OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0002148 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0002748 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0002749 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0002900 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0003076 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0003648 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134600 FANCONI RENOTUBULAR SYNDROME HP:0004322 OMIM:134600 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0000006 OMIM:134610 IEA I 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0000083 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0000093 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0001369 OMIM:134610 IEA O 2010-06-20 HPO:skoehler OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0001917 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0001954 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0002027 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0002102 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0002586 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0002829 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0003621 OMIM:134610 IEA C 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0005764 OMIM:134610 IEA O 2009-02-17 HPO:curators OMIM 134610 #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT HP:0100749 OMIM:134610 IEA O 2015-01-04 HPO:skoehler OMIM 134700 FAVISM, SUSCEPTIBILITY TO HP:0000006 OMIM:134700 TAS I 2009-02-17 HPO:probinson OMIM 134700 FAVISM, SUSCEPTIBILITY TO HP:0004814 OMIM:134700 TAS O 2009-02-17 HPO:probinson OMIM 134750 FELTY SYNDROME HP:0000006 OMIM:134750 IEA I 2009-02-17 HPO:curators OMIM 134750 FELTY SYNDROME HP:0001370 OMIM:134750 IEA O 2009-02-17 HPO:curators OMIM 134750 FELTY SYNDROME HP:0001744 OMIM:134750 IEA O 2009-02-17 HPO:curators OMIM 134750 FELTY SYNDROME HP:0001875 OMIM:134750 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000023 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000028 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000054 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000059 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000104 OMIM:134780 TAS O 2009-02-17 HPO:probinson OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000113 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000175 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000219 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000319 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000343 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000347 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000369 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000377 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000430 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000565 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000582 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000902 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000912 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0000921 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001177 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001629 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001642 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001660 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001762 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001770 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001841 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0001999 OMIM:134780 IEA O 2015-01-19 HPO:skoehler OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0002020 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0002650 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0002937 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0002974 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0002996 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0003041 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0003196 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0003274 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0003745 OMIM:134780 IEA I 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0004322 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0004686 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0004689 OMIM:134780 TAS O 2012-05-08 HPO:probinson OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0004704 OMIM:134780 TAS O 2012-05-08 HPO:probinson OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0004742 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0005613 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0005792 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0006467 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0008455 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0008465 OMIM:134780 IEA O 2009-02-17 HPO:curators OMIM 134780 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS HP:0009800 OMIM:134780 IEA HP:0040282 O 2010-06-20 HPO:skoehler OMIM 134900 FIBRINOLYTIC DEFECT HP:0000006 OMIM:134900 IEA I 2009-02-17 HPO:curators OMIM 134900 FIBRINOLYTIC DEFECT HP:0000974 OMIM:134900 IEA O 2009-02-17 HPO:curators OMIM 134900 FIBRINOLYTIC DEFECT HP:0007420 OMIM:134900 IEA O 2009-02-17 HPO:curators OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0000006 OMIM:135100 TAS I 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0000405 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0000407 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0000687 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0001249 OMIM:135100 TAS HP:0040284 O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0001596 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0001822 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0002093 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0002650 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0002878 OMIM:135100 IEA O 2014-06-24 HPO:skoehler OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0003016 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0004209 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0004629 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0006429 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0008449 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0010034 OMIM:135100 TAS O 2009-02-17 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0010054 OMIM:135100 TAS O 2013-04-07 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0010109 OMIM:135100 IEA O 2013-10-22 HPO:skoehler OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0011987 OMIM:135100 TAS O 2012-07-19 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0011988 OMIM:135100 TAS O 2012-07-19 HPO:probinson OMIM 135100 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP HP:0011989 OMIM:135100 TAS O 2012-07-19 HPO:probinson OMIM 135150 #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS HP:0000006 OMIM:135150 IEA I 2009-02-17 HPO:curators OMIM 135150 #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS HP:0000107 OMIM:135150 IEA O 2012-10-17 HPO:skoehler OMIM 135150 #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS HP:0001012 OMIM:135150 IEA O 2012-10-17 HPO:skoehler OMIM 135150 #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS HP:0001438 OMIM:135150 IEA O 2009-02-17 HPO:curators OMIM 135150 #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS HP:0001595 OMIM:135150 IEA O 2009-02-17 HPO:curators OMIM 135150 #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS HP:0002108 OMIM:135150 IEA O 2009-02-17 HPO:curators OMIM 135150 #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS HP:0005584 OMIM:135150 IEA O 2012-10-17 HPO:skoehler OMIM 135150 #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS HP:0030436 OMIM:135150 IEA O 2015-08-05 HPO:skoehler OMIM 135290 DESMOID DISEASE, HEREDITARY HP:0000006 OMIM:135290 PCS I 2009-02-17 HPO:curators OMIM 135290 DESMOID DISEASE, HEREDITARY HP:0003003 PMID:1078292 PCS HP:0040283 O 2010-07-08 HPO:curators OMIM 135290 DESMOID DISEASE, HEREDITARY HP:0100245 OMIM:135290 PCS HP:0003593 HP:0040281 O 2009-02-17 HPO:curators OMIM 135290 DESMOID DISEASE, HEREDITARY HP:0200040 PMID:1078292;PMID:8940264 PCS HP:0040282 O 2010-07-08 HPO:curators OMIM 135300 FIBROMATOSIS, GINGIVAL, 1 HP:0000006 OMIM:135300 TAS I 2009-02-17 HPO:probinson OMIM 135300 FIBROMATOSIS, GINGIVAL, 1 HP:0000169 OMIM:135300 TAS O 2009-02-17 HPO:probinson OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000006 OMIM:135400 IEA I 2009-02-17 HPO:curators OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000007 TAS I 2015-12-30 HPO:skoehler OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000169 OMIM:135400 IEA O 2009-02-17 HPO:curators OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000286 OMIM:135400 IEA HP:0040283 O 2014-08-24 HPO:skoehler OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000414 OMIM:135400 IEA HP:0040283 O 2014-08-24 HPO:skoehler OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0000494 OMIM:135400 IEA HP:0040283 O 2014-08-24 HPO:skoehler OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0001007 OMIM:135400 IEA O 2009-02-17 HPO:curators OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0004540 OMIM:135400 IEA O 2015-01-21 HPO:skoehler OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0009928 OMIM:135400 IEA HP:0040283 O 2014-08-24 HPO:skoehler OMIM 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0012810 OMIM:135400 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000006 OMIM:135500 IEA I 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000040 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000169 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000179 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000212 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000218 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000280 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000303 OMIM:135500 IEA O 2017-07-13 HPO:skoehler OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000358 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000365 OMIM:135500 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000431 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000518 OMIM:135500 IEA O 2012-10-17 HPO:skoehler OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000545 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000574 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000664 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000684 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0000787 OMIM:135500 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001007 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001187 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001250 OMIM:135500 IEA O 2015-07-26 HPO:skoehler OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001290 OMIM:135500 IEA O 2017-07-13 HPO:skoehler OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001507 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001537 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001638 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001643 OMIM:135500 IEA O 2012-10-17 HPO:skoehler OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001744 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001792 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0001857 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0002240 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0002616 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0002650 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0003298 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0005113 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0006887 OMIM:135500 IEA HP:0040283 O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0009882 OMIM:135500 IEA O 2009-02-17 HPO:curators OMIM 135500 ZIMMERMANN-LABAND SYNDROME 1 HP:0010864 OMIM:135500 IEA HP:0040283 O 2013-06-16 HPO:skoehler OMIM 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS HP:0000006 OMIM:135550 IEA I 2009-02-17 HPO:curators OMIM 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS HP:0000169 OMIM:135550 IEA O 2009-02-17 HPO:curators OMIM 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS HP:0000408 OMIM:135550 IEA O 2009-02-17 HPO:curators OMIM 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES HP:0000006 OMIM:135580 TAS I 2009-02-17 HPO:curators OMIM 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES HP:0001297 OMIM:135580 TAS O 2009-02-17 HPO:curators OMIM 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES HP:0001658 OMIM:135580 TAS O 2009-02-17 HPO:curators OMIM 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES HP:0002647 OMIM:135580 TAS O 2009-02-17 HPO:curators OMIM 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES HP:0004417 OMIM:135580 TAS O 2013-03-12 HPO:probinson OMIM 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES HP:0005313 OMIM:135580 TAS O 2009-02-17 HPO:curators OMIM 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES HP:0100817 OMIM:135580 TAS O 2009-02-17 HPO:curators OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0000006 OMIM:135700 TAS I 2009-02-17 HPO:probinson OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0000565 OMIM:135700 TAS O 2010-06-20 HPO:skoehler OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0000577 OMIM:135700 TAS O 2010-06-20 HPO:skoehler OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0001477 OMIM:135700 TAS O 2009-02-17 HPO:probinson OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0001488 OMIM:135700 TAS O 2009-02-17 HPO:probinson OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0001491 OMIM:135700 TAS O 2009-02-17 HPO:probinson OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0007936 OMIM:135700 TAS O 2009-02-17 HPO:probinson OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0012241 OMIM:135700 TAS O 2013-04-02 HPO:probinson OMIM 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 HP:0012242 OMIM:135700 TAS O 2013-04-02 HPO:probinson OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0000006 OMIM:135750 IEA I 2009-02-17 HPO:curators OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0000271 OMIM:135750 IEA O 2009-02-17 HPO:curators OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0000430 OMIM:135750 TAS O 2012-10-17 HPO:skoehler OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0001159 OMIM:135750 IEA O 2009-02-17 HPO:curators OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0001161 OMIM:135750 IEA O 2009-02-17 HPO:curators OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0001199 OMIM:135750 TAS O 2012-10-17 HPO:skoehler OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0001769 OMIM:135750 TAS O 2013-04-08 HPO:probinson OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0001773 OMIM:135750 TAS O 2013-04-08 HPO:probinson OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0003974 OMIM:135750 IEA O 2009-02-17 HPO:curators OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0006443 OMIM:135750 TAS O 2012-10-17 HPO:skoehler OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0009556 OMIM:135750 IEA O 2013-10-22 HPO:skoehler OMIM 135750 %135750 LAURIN-SANDROW SYNDROME;;LSS;;SANDROW SYNDROME;;MIRROR HANDS AND FEET WITH NASAL DEFECTS;;TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;;MIRROR-IMAGE POLYDACTYLY; MIP;;FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUSLAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED HP:0010503 OMIM:135750 IEA O 2010-06-18 HPO:skoehler OMIM 135800 135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF HP:0000006 OMIM:135800 IEA I 2009-02-17 HPO:curators OMIM 135800 135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF HP:0002991 OMIM:135800 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000006 OMIM:135900 IEA I 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000007 OMIM:135900 IEA I 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000023 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000028 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000047 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000086 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000089 OMIM:135900 TAS O 2009-02-17 HPO:probinson OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000126 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000151 OMIM:135900 TAS O 2009-02-17 HPO:probinson OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000154 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000175 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000179 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000218 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000219 OMIM:135900 IEA O 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000252 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000280 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000358 OMIM:135900 IEA O 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000365 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000369 OMIM:135900 IEA O 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000384 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000453 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000455 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000483 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000486 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000494 OMIM:135900 IEA O 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000505 OMIM:135900 IEA O 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000508 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000527 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000545 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000574 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000601 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000639 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000684 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000718 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000729 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000776 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000879 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000954 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000960 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0000965 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001028 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001249 OMIM:135900 IEA O 2012-10-17 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001250 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001252 OMIM:135900 IEA O 2010-06-20 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001263 OMIM:135900 IEA O 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001305 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001338 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001388 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001511 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001537 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001629 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001631 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001636 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0001643 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002079 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002205 OMIM:135900 TAS O 2009-02-17 HPO:probinson OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002209 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002219 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002566 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002576 OMIM:135900 IEA O 2010-06-20 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002588 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002592 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002650 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002673 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002750 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0002808 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0003083 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0003298 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0003812 OMIM:135900 IEA C 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0004227 OMIM:135900 TAS O 2012-06-10 HPO:probinson OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0004322 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0005280 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0006237 OMIM:135900 IEA O 2017-07-13 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0006498 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0006863 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0008398 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0008872 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0008897 OMIM:135900 IEA O 2012-10-17 HPO:skoehler OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0009747 OMIM:135900 IEA O 2009-02-17 HPO:curators OMIM 135900 COFFIN-SIRIS SYNDROME 1 HP:0100391 OMIM:135900 TAS O 2012-06-10 HPO:probinson OMIM 135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE HP:0000006 OMIM:135950 IEA I 2009-02-17 HPO:curators OMIM 135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE HP:0001511 OMIM:135950 TAS O 2013-02-25 HPO:probinson OMIM 135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE HP:0004322 OMIM:135950 IEA O 2009-02-17 HPO:curators OMIM 136000 FINGERPRINTS, ABSENCE OF HP:0000006 OMIM:136000 TAS I 2009-02-17 HPO:probinson OMIM 136000 FINGERPRINTS, ABSENCE OF HP:0001217 OMIM:136000 TAS O 2012-06-04 HPO:probinson OMIM 136000 FINGERPRINTS, ABSENCE OF HP:0007455 OMIM:136000 TAS O 2012-06-04 HPO:probinson OMIM 136000 FINGERPRINTS, ABSENCE OF HP:0010765 OMIM:136000 TAS O 2012-06-04 HPO:probinson OMIM 136100 FINGERS, RELATIVE LENGTH OF HP:0000006 OMIM:136100 IEA I 2009-02-17 HPO:curators OMIM 136100 FINGERS, RELATIVE LENGTH OF HP:0009536 OMIM:136100 IEA O 2009-02-17 HPO:curators OMIM 136120 FISH-EYE DISEASE HP:0000007 OMIM:136120 TAS I 2012-10-17 HPO:skoehler OMIM 136120 FISH-EYE DISEASE HP:0002155 OMIM:136120 TAS O 2009-02-17 HPO:skoehler OMIM 136120 FISH-EYE DISEASE HP:0003141 OMIM:136120 TAS O 2013-12-15 HPO:probinson OMIM 136120 FISH-EYE DISEASE HP:0003233 OMIM:136120 TAS O 2013-02-25 HPO:skoehler OMIM 136120 FISH-EYE DISEASE HP:0003362 OMIM:136120 TAS O 2009-02-17 HPO:probinson OMIM 136120 FISH-EYE DISEASE HP:0007759 OMIM:136120 TAS O 2009-02-17 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000006 OMIM:136140 IEA I 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000023 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000028 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000047 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000121 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000126 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000154 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000233 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000319 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000325 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000358 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000403 OMIM:136140 IEA HP:0040283 O 2012-11-21 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000405 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000448 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000470 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000486 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000490 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000527 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0000540 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0001007 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0001388 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0001537 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0001631 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0001680 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0002162 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0002474 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0002608 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0002714 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0002750 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0004209 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0004322 OMIM:136140 TAS O 2009-02-17 HPO:probinson OMIM 136140 FLOATING-HARBOR SYNDROME HP:0005301 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0010230 OMIM:136140 IEA O 2009-02-17 HPO:curators OMIM 136140 FLOATING-HARBOR SYNDROME HP:0010957 OMIM:136140 IEA HP:0040283 O 2013-05-31 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0011599 OMIM:136140 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0012871 OMIM:136140 IEA HP:0040283 O 2014-06-24 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0030424 OMIM:136140 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 136140 FLOATING-HARBOR SYNDROME HP:0100543 OMIM:136140 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 136150 FLOOD FACTOR DEFICIENCY HP:0000006 OMIM:136150 IEA I 2009-02-17 HPO:curators OMIM 136150 FLOOD FACTOR DEFICIENCY HP:0001871 OMIM:136150 IEA O 2009-02-17 HPO:curators OMIM 136150 FLOOD FACTOR DEFICIENCY HP:0001939 OMIM:136150 IEA O 2009-02-17 HPO:curators OMIM 136200 FLUSHING OF EARS AND SOMNOLENCE HP:0000006 OMIM:136200 IEA I 2009-02-17 HPO:curators OMIM 136200 FLUSHING OF EARS AND SOMNOLENCE HP:0000951 OMIM:136200 IEA O 2009-02-17 HPO:curators OMIM 136200 FLUSHING OF EARS AND SOMNOLENCE HP:0001262 OMIM:136200 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000006 OMIM:136300 IEA I 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000408 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000510 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000518 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000545 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000670 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000726 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000939 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0000962 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0001250 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0001251 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0001387 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0001596 OMIM:136300 TAS O 2009-02-17 HPO:skoehler OMIM 136300 FLYNN-AIRD SYNDROME HP:0002293 OMIM:136300 IEA O 2015-12-30 HPO:skoehler OMIM 136300 FLYNN-AIRD SYNDROME HP:0002381 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0002751 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0002922 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0004334 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0005700 OMIM:136300 IEA O 2009-02-17 HPO:curators OMIM 136300 FLYNN-AIRD SYNDROME HP:0009830 OMIM:136300 IEA O 2017-07-13 HPO:skoehler OMIM 136400 FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA HP:0000153 OMIM:136400 IEA O 2009-02-17 HPO:curators OMIM 136480 FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL HP:0000006 OMIM:136480 IEA I 2009-02-17 HPO:curators OMIM 136480 FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL HP:0007011 OMIM:136480 IEA O 2009-02-17 HPO:curators OMIM 136500 FOCAL FACIAL DERMAL DYSPLASIA HP:0000006 OMIM:136500 IEA I 2009-02-17 HPO:curators OMIM 136500 FOCAL FACIAL DERMAL DYSPLASIA HP:0003758 OMIM:136500 TAS O 2009-02-17 HPO:skoehler OMIM 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROMEFOVEAL HYPOPLASIA, ISOLATED, INCLUDED HP:0000006 OMIM:136520 IEA I 2009-02-17 HPO:curators OMIM 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROMEFOVEAL HYPOPLASIA, ISOLATED, INCLUDED HP:0000505 OMIM:136520 IEA O 2009-02-17 HPO:curators OMIM 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROMEFOVEAL HYPOPLASIA, ISOLATED, INCLUDED HP:0006934 OMIM:136520 IEA O 2009-02-17 HPO:curators OMIM 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROMEFOVEAL HYPOPLASIA, ISOLATED, INCLUDED HP:0007750 OMIM:136520 IEA O 2009-02-17 HPO:curators OMIM 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROMEFOVEAL HYPOPLASIA, ISOLATED, INCLUDED HP:0007819 OMIM:136520 IEA O 2009-02-17 HPO:curators OMIM 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0000006 OMIM:136550 TAS I 2009-02-17 HPO:probinson OMIM 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0000603 OMIM:136550 IEA O 2017-07-13 HPO:skoehler OMIM 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0002909 OMIM:136550 TAS O 2009-02-17 HPO:probinson OMIM 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0007663 OMIM:136550 IEA O 2017-07-13 HPO:skoehler OMIM 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0007754 OMIM:136550 TAS O 2009-02-17 HPO:probinson OMIM 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0008002 OMIM:136550 TAS O 2010-06-20 HPO:skoehler OMIM 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0011510 OMIM:136550 TAS O 2015-07-19 HPO:probinson OMIM 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0200070 OMIM:136550 IEA O 2017-07-13 HPO:skoehler OMIM 136570 #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16p12, INCLUDED HP:0000708 OMIM:136570 IEA HP:0040284 O #136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED 2013-01-10 HPO:skoehler OMIM 136570 #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16p12, INCLUDED HP:0000750 OMIM:136570 IEA HP:0040281 O #136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED 2013-01-10 HPO:skoehler OMIM 136570 #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16p12, INCLUDED HP:0001250 OMIM:136570 IEA HP:0040284 O #136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED 2013-01-10 HPO:skoehler OMIM 136570 #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16p12, INCLUDED HP:0001263 OMIM:136570 IEA HP:0040281 O #136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED 2013-01-09 HPO:skoehler OMIM 136570 #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16p12, INCLUDED HP:0001290 OMIM:136570 IEA HP:0040284 O #136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED 2013-01-10 HPO:skoehler OMIM 136570 #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16p12, INCLUDED HP:0001999 OMIM:136570 IEA HP:0040281 O #136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED 2013-01-10 HPO:skoehler OMIM 136570 #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16p12, INCLUDED HP:0030680 OMIM:136570 IEA HP:0040281 O #136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED 2013-01-10 HPO:skoehler OMIM 136580 #136580 FRAGILE SITE 16q22; FRA16A HP:0000789 OMIM:136580 IEA O #136580 FRAGILE SITE 16Q22; FRA16A 2013-01-09 HPO:skoehler OMIM 136580 #136580 FRAGILE SITE 16q22; FRA16A HP:0002733 OMIM:136580 IEA O #136580 FRAGILE SITE 16Q22; FRA16A 2013-01-10 HPO:skoehler OMIM 136580 #136580 FRAGILE SITE 16q22; FRA16A HP:0002916 OMIM:136580 IEA O #136580 FRAGILE SITE 16Q22; FRA16A 2013-01-10 HPO:skoehler OMIM 136580 #136580 FRAGILE SITE 16q22; FRA16A HP:0005268 OMIM:136580 IEA O #136580 FRAGILE SITE 16Q22; FRA16A 2013-01-10 HPO:skoehler OMIM 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS HP:0000006 OMIM:136600 IEA I 2009-02-17 HPO:curators OMIM 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS HP:0000407 OMIM:136600 IEA O 2009-02-17 HPO:curators OMIM 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS HP:0000648 OMIM:136600 IEA O 2009-02-17 HPO:curators OMIM 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS HP:0001251 OMIM:136600 IEA O 2009-02-17 HPO:curators OMIM 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS HP:0001265 OMIM:136600 IEA O 2009-02-17 HPO:curators OMIM 136610 #136610 FRAGILE SITE 2q11 HP:0001249 OMIM:136610 IEA O #136610 FRAGILE SITE 2Q11 2013-01-09 HPO:skoehler OMIM 136630 MENTAL RETARDATION, FRA12A TYPE HP:0000006 OMIM:136630 IEA I 2017-07-13 HPO:skoehler OMIM 136630 MENTAL RETARDATION, FRA12A TYPE HP:0000962 OMIM:136630 IEA O 2017-07-13 HPO:skoehler OMIM 136630 MENTAL RETARDATION, FRA12A TYPE HP:0001249 OMIM:136630 IEA O 2013-01-09 HPO:skoehler OMIM 136630 MENTAL RETARDATION, FRA12A TYPE HP:0001250 OMIM:136630 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 136630 MENTAL RETARDATION, FRA12A TYPE HP:0003812 OMIM:136630 IEA C 2017-07-13 HPO:skoehler OMIM 136680 FRASIER SYNDROME HP:0000006 OMIM:136680 IEA I 2009-02-17 HPO:curators OMIM 136680 FRASIER SYNDROME HP:0000037 OMIM:136680 IEA O 2009-02-17 HPO:curators OMIM 136680 FRASIER SYNDROME HP:0000097 OMIM:136680 IEA O 2009-02-17 HPO:curators OMIM 136680 FRASIER SYNDROME HP:0000100 OMIM:136680 IEA O 2009-02-17 HPO:curators OMIM 136680 FRASIER SYNDROME HP:0000133 OMIM:136680 IEA O 2009-02-17 HPO:curators OMIM 136680 FRASIER SYNDROME HP:0000149 OMIM:136680 IEA O 2009-02-17 HPO:curators OMIM 136680 FRASIER SYNDROME HP:0000786 OMIM:136680 IEA O 2009-02-17 HPO:curators OMIM 136680 FRASIER SYNDROME HP:0001428 OMIM:136680 IEA I 2009-02-17 HPO:curators OMIM 136680 FRASIER SYNDROME HP:0003774 OMIM:136680 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000007 TAS I 2015-12-30 HPO:skoehler OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000161 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000286 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000316 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000327 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000349 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000369 OMIM:136760 TAS O 2009-02-17 HPO:skoehler OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000384 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000405 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000431 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000431 OMIM:136760 TAS O 2009-02-17 HPO:skoehler OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000455 OMIM:136760 TAS O 2009-02-17 HPO:probinson OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000456 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000508 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000518 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000568 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0000589 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0001156 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0001162 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0001249 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0001274 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0001566 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0001636 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0002000 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0002738 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0003745 OMIM:136760 IEA I 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0004423 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0005258 OMIM:136760 TAS O 2009-02-17 HPO:probinson OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0006931 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0006992 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0007541 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0009099 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0009466 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0009473 OMIM:136760 IEA O 2009-02-17 HPO:curators OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0012385 OMIM:136760 TAS O 2013-10-22 HPO:skoehler OMIM 136760 FRONTONASAL DYSPLASIA 1; FND1 HP:0030084 OMIM:136760 IEA O 2014-09-21 HPO:skoehler OMIM 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 HP:0000006 OMIM:136800 TAS I 2009-02-17 HPO:probinson OMIM 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 HP:0001131 OMIM:136800 TAS O 2009-02-17 HPO:probinson OMIM 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 HP:0007705 OMIM:136800 TAS O 2011-02-10 HPO:probinson OMIM 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 HP:0012038 OMIM:136800 TAS O 2012-07-22 HPO:probinson OMIM 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 HP:0012039 OMIM:136800 TAS O 2012-07-27 HPO:probinson OMIM 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 HP:0012040 OMIM:136800 TAS O 2012-07-27 HPO:probinson OMIM 136820 FUCOSIDASE, ALPHA-L, 2 HP:0001939 OMIM:136820 IEA O 2009-02-17 HPO:curators OMIM 136880 FUNDUS ALBIPUNCTATUS HP:0000006 OMIM:136880 TAS I 2012-09-16 HPO:probinson OMIM 136880 FUNDUS ALBIPUNCTATUS HP:0000007 OMIM:136880 IEA I 2017-07-13 HPO:skoehler OMIM 136880 FUNDUS ALBIPUNCTATUS HP:0000662 OMIM:136880 TAS O 2009-02-17 HPO:probinson OMIM 136880 FUNDUS ALBIPUNCTATUS HP:0012045 OMIM:136880 TAS O 2012-09-16 HPO:probinson OMIM 136880 FUNDUS ALBIPUNCTATUS HP:0030642 OMIM:136880 IEA O 2017-07-13 HPO:skoehler OMIM 136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY HP:0000006 OMIM:136900 IEA I 2009-02-17 HPO:curators OMIM 136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY HP:0007754 OMIM:136900 IEA O 2009-02-17 HPO:curators OMIM 137000 FUTCHER LINE HP:0000006 OMIM:137000 IEA I 2009-02-17 HPO:curators OMIM 137000 FUTCHER LINE HP:0000951 OMIM:137000 IEA O 2009-02-17 HPO:curators OMIM 137040 GALLBLADDER, AGENESIS OF HP:0000006 OMIM:137040 IEA I 2009-02-17 HPO:curators OMIM 137040 GALLBLADDER, AGENESIS OF HP:0001438 OMIM:137040 IEA O 2009-02-17 HPO:curators OMIM 137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0000006 OMIM:137050 TAS I 2009-02-17 HPO:probinson OMIM 137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0002205 OMIM:137050 TAS O 2009-02-17 HPO:probinson OMIM 137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF HP:0002720 OMIM:137050 TAS O 2015-02-15 HPO:probinson OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0000006 OMIM:137100 IEA I 2012-10-17 HPO:skoehler OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0000007 OMIM:137100 IEA I 2012-10-17 HPO:skoehler OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0001425 OMIM:137100 IEA I 2009-02-17 HPO:curators OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0002024 OMIM:137100 IEA O 2009-02-17 HPO:curators OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0002205 OMIM:137100 IEA O 2012-11-21 HPO:skoehler OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0002720 OMIM:137100 IEA O 2009-02-17 HPO:curators OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0002960 OMIM:137100 IEA O 2009-02-17 HPO:curators OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0003745 TAS I 2015-12-30 HPO:skoehler OMIM 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 HP:0004798 OMIM:137100 IEA O 2013-05-29 HPO:skoehler OMIM 137130 GASTRIC SNEEZING HP:0000006 OMIM:137130 IEA I 2009-02-17 HPO:curators OMIM 137130 GASTRIC SNEEZING HP:0001438 OMIM:137130 IEA O 2009-02-17 HPO:curators OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0000007 OMIM:137200 IEA I 2012-11-16 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0000975 OMIM:137200 IEA O 2009-02-17 HPO:curators OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0001760 OMIM:137200 IEA O 2012-11-16 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0002380 OMIM:137200 IEA O 2012-11-16 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0002411 OMIM:137200 IEA O 2009-02-17 HPO:curators OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0002486 OMIM:137200 IEA O 2009-02-17 HPO:curators OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0002936 OMIM:137200 IEA O 2017-07-13 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0003202 OMIM:137200 IEA O 2015-01-21 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0003236 OMIM:137200 IEA O 2012-11-16 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0003390 OMIM:137200 IEA O 2012-11-16 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0003394 OMIM:137200 IEA O 2012-11-16 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0003552 OMIM:137200 IEA O 2012-11-16 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0003676 OMIM:137200 IEA C 2012-11-16 HPO:skoehler OMIM 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0009027 OMIM:137200 IEA O 2012-11-16 HPO:skoehler OMIM 137210 137210 GASTRIC VOLVULUS, INTRATHORACIC HP:0000006 OMIM:137210 IEA I 2014-05-04 HPO:skoehler OMIM 137210 137210 GASTRIC VOLVULUS, INTRATHORACIC HP:0002036 OMIM:137210 IEA O 2009-02-17 HPO:curators OMIM 137210 137210 GASTRIC VOLVULUS, INTRATHORACIC HP:0002580 OMIM:137210 IEA O 2010-06-20 HPO:skoehler OMIM 137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0000006 OMIM:137215 IEA I 2012-10-17 HPO:skoehler OMIM 137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0000175 OMIM:137215 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0000204 OMIM:137215 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0002582 OMIM:137215 IEA O 2009-02-17 HPO:curators OMIM 137215 #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED HP:0012126 OMIM:137215 IEA O 2015-01-27 HPO:skoehler OMIM 137245 137245 GASTRIC LYMPHOMA, PRIMARY HP:0045038 OMIM:137245 IEA O 2015-08-22 HPO:skoehler OMIM 137270 GASTROCUTANEOUS SYNDROME HP:0000006 OMIM:137270 IEA I 2009-02-17 HPO:curators OMIM 137270 GASTROCUTANEOUS SYNDROME HP:0000316 OMIM:137270 IEA O 2009-02-17 HPO:curators OMIM 137270 GASTROCUTANEOUS SYNDROME HP:0000545 OMIM:137270 IEA O 2009-02-17 HPO:curators OMIM 137270 GASTROCUTANEOUS SYNDROME HP:0000957 OMIM:137270 IEA O 2009-02-17 HPO:curators OMIM 137270 GASTROCUTANEOUS SYNDROME HP:0001003 OMIM:137270 IEA O 2009-02-17 HPO:curators OMIM 137270 GASTROCUTANEOUS SYNDROME HP:0002036 OMIM:137270 IEA O 2009-02-17 HPO:curators OMIM 137270 GASTROCUTANEOUS SYNDROME HP:0004398 OMIM:137270 IEA O 2009-02-17 HPO:curators OMIM 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC HP:0000007 OMIM:137280 IEA I 2017-07-13 HPO:skoehler OMIM 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC HP:0003075 OMIM:137280 IEA O 2009-02-17 HPO:curators OMIM 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC HP:0005246 OMIM:137280 IEA O 2009-02-17 HPO:curators OMIM 137360 GENOCHONDROMATOSIS HP:0000006 OMIM:137360 IEA I 2009-02-17 HPO:curators OMIM 137360 GENOCHONDROMATOSIS HP:0000924 OMIM:137360 IEA O 2009-02-17 HPO:curators OMIM 137370 137370 GENU VALGUM, ST. HELENA FAMILIAL;;GENU VALGUM, HEREDITARY PUBERTAL HP:0000006 OMIM:137370 IEA I 2014-01-28 HPO:skoehler OMIM 137370 137370 GENU VALGUM, ST. HELENA FAMILIAL;;GENU VALGUM, HEREDITARY PUBERTAL HP:0002857 OMIM:137370 IEA O 2009-02-17 HPO:curators OMIM 137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE HP:0000006 OMIM:137400 IEA I 2009-02-17 HPO:curators OMIM 137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE HP:0000221 OMIM:137400 IEA O 2009-02-17 HPO:curators OMIM 137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE HP:0025252 OMIM:137400 IEA O 2017-07-13 HPO:skoehler OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0000006 OMIM:137440 TAS I 2009-02-17 HPO:probinson OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0000709 OMIM:137440 TAS O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0000712 OMIM:137440 TAS O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0000716 OMIM:137440 TAS O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0000718 OMIM:137440 TAS O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0000726 OMIM:137440 TAS HP:0003584 O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0000751 OMIM:137440 TAS O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001257 OMIM:137440 TAS O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001260 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001272 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001284 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001300 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001336 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001337 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001347 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0001824 OMIM:137440 TAS O 2009-02-17 HPO:skoehler OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0002063 OMIM:137440 TAS O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0002066 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0002067 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0002070 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0002078 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0002185 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0002186 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0002354 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0003581 OMIM:137440 TAS C 2009-02-17 HPO:skoehler OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0003678 OMIM:137440 TAS C 2009-02-17 HPO:skoehler OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0003812 OMIM:137440 IEA C 2014-01-28 HPO:skoehler OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0007340 OMIM:137440 IEA O 2009-02-17 HPO:curators OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0007772 OMIM:137440 IEA O 2010-06-18 HPO:skoehler OMIM 137440 #137440 GERSTMANN-STRAUSSLER DISEASE; GSD;;ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;;GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;;CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;;AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;;PRION DEMENTIACEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED HP:0030223 OMIM:137440 IEA O 2015-01-04 HPO:skoehler OMIM 137500 GIANT NEUTROPHIL LEUKOCYTES HP:0000006 OMIM:137500 IEA I 2009-02-17 HPO:curators OMIM 137500 GIANT NEUTROPHIL LEUKOCYTES HP:0001871 OMIM:137500 IEA O 2009-02-17 HPO:curators OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000006 OMIM:137550 IEA I 2009-02-17 HPO:curators OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000194 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000232 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000293 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000311 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000337 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000343 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000418 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000455 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0000629 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0002002 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0003196 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0003577 TAS C 2015-12-30 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0005600 OMIM:137550 TAS O 2012-08-01 HPO:probinson OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0010759 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0011220 OMIM:137550 IEA O 2014-08-24 HPO:skoehler OMIM 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS HP:0012056 OMIM:137550 TAS O 2012-08-01 HPO:probinson OMIM 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA HP:0000006 OMIM:137560 IEA I 2009-02-17 HPO:curators OMIM 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA HP:0000978 OMIM:137560 IEA O 2009-02-17 HPO:curators OMIM 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA HP:0001873 OMIM:137560 IEA O 2009-02-17 HPO:curators OMIM 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA HP:0001902 OMIM:137560 IEA O 2009-02-17 HPO:curators OMIM 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA HP:0002239 OMIM:137560 IEA O 2009-02-17 HPO:curators OMIM 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA HP:0006298 OMIM:137560 TAS O 2013-03-11 HPO:probinson OMIM 137575 GIGANTIFORM CEMENTOMA, FAMILIAL HP:0000006 OMIM:137575 TAS I 2009-02-17 HPO:probinson OMIM 137575 GIGANTIFORM CEMENTOMA, FAMILIAL HP:0000692 OMIM:137575 TAS O 2009-02-17 HPO:probinson OMIM 137575 GIGANTIFORM CEMENTOMA, FAMILIAL HP:0001571 OMIM:137575 TAS O 2009-02-17 HPO:probinson OMIM 137575 GIGANTIFORM CEMENTOMA, FAMILIAL HP:0012328 OMIM:137575 TAS O 2013-08-13 HPO:probinson OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0000006 OMIM:137580 IEA I 2009-02-17 HPO:curators OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0000718 OMIM:137580 IEA O 2013-02-25 HPO:skoehler OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0000722 OMIM:137580 IEA O 2009-02-17 HPO:curators OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0000742 OMIM:137580 IEA O 2009-02-17 HPO:curators OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0002360 OMIM:137580 IEA O 2009-02-17 HPO:curators OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0007018 OMIM:137580 IEA O 2009-02-17 HPO:curators OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0010529 OMIM:137580 IEA O 2010-06-18 HPO:skoehler OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0100034 OMIM:137580 TAS O 2015-01-21 HPO:skoehler OMIM 137580 #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED HP:0100035 OMIM:137580 IEA O 2010-06-20 HPO:skoehler OMIM 137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0000006 PMID:5804028;PMID:9618168 PCS I 2009-02-17 HPO:curators OMIM 137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0000164 PMID:9618168 PCS HP:0040281 O 2012-04-19 HPO:curators OMIM 137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0000501 PMID:6881141;PMID:9618168 PCS HP:0040281 O 2009-02-17 HPO:curators OMIM 137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0001999 PMID:8942889;PMID:9618168 PCS O 2012-04-19 HPO:curators OMIM 137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0007730 PMID:5804028;PMID:9618168 PCS HP:0040281 O 2012-04-19 HPO:curators OMIM 137600 IRIDOGONIODYSGENESIS, TYPE 2 HP:0007990 PMID:5804028;PMID:9618168 PCS HP:0040281 O 2009-02-17 HPO:curators OMIM 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE HP:0000006 OMIM:137700 TAS I 2009-02-17 HPO:probinson OMIM 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE HP:0000501 OMIM:137700 TAS O 2012-07-16 HPO:probinson OMIM 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE HP:0012108 OMIM:137700 IEA O 2017-07-13 HPO:skoehler OMIM 137750 GLAUCOMA 1, OPEN ANGLE, A HP:0000006 OMIM:137750 IEA I 2009-02-17 HPO:curators OMIM 137750 GLAUCOMA 1, OPEN ANGLE, A HP:0000501 OMIM:137750 IEA O 2009-02-17 HPO:curators OMIM 137750 GLAUCOMA 1, OPEN ANGLE, A HP:0000545 OMIM:137750 IEA O 2009-02-17 HPO:curators OMIM 137750 GLAUCOMA 1, OPEN ANGLE, A HP:0007905 OMIM:137750 IEA O 2009-02-17 HPO:curators OMIM 137760 GLAUCOMA, PRIMARY OPEN ANGLE HP:0000006 OMIM:137760 IEA I 2009-02-17 HPO:curators OMIM 137760 GLAUCOMA, PRIMARY OPEN ANGLE HP:0000545 OMIM:137760 IEA O 2009-02-17 HPO:curators OMIM 137760 GLAUCOMA, PRIMARY OPEN ANGLE HP:0012108 OMIM:137760 TAS O 2009-02-17 HPO:skoehler OMIM 137763 GLAUCOMA - SLEEP APNEA HP:0010535 OMIM:137763 IEA O 2015-01-27 HPO:skoehler OMIM 137800 #137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED HP:0000006 OMIM:137800 TAS I 2013-01-21 HPO:skoehler OMIM 137800 #137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED HP:0001428 OMIM:137800 TAS I 2013-01-21 HPO:skoehler OMIM 137800 #137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED HP:0002888 OMIM:137800 TAS O 2013-01-22 HPO:skoehler OMIM 137800 #137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED HP:0012174 OMIM:137800 TAS O 2009-02-17 HPO:probinson OMIM 137800 #137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED HP:0100843 OMIM:137800 TAS O 2013-01-22 HPO:skoehler OMIM 137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN HP:0000006 OMIM:137900 IEA I 2009-02-17 HPO:curators OMIM 137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN HP:0002715 OMIM:137900 IEA O 2009-02-17 HPO:curators OMIM 137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN HP:0003256 OMIM:137900 TAS O 2009-02-17 HPO:probinson OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000006 OMIM:137920 PCS I 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000013 PMID:15930087 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000047 OMIM:137920 IEA O 2012-10-17 HPO:skoehler OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000074 OMIM:137920 IEA O 2012-10-17 HPO:skoehler OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000089 PMID:15930087 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000093 PMID:15930087 PCS HP:0040282 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000107 PMID:15930087 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000122 PMID:15930087 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000787 OMIM:137920 IEA O 2012-10-17 HPO:skoehler OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000813 PMID:15930087 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0000833 PMID:15930087 PCS HP:0040282 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0001080 PMID:15930087 PCS HP:0040282 O 2010-12-28 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0001738 PMID:15068978 PCS HP:0040284 O 2010-12-28 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0001997 PMID:15930087 PCS HP:0040282 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0002120 OMIM:137920 IEA O 2012-10-17 HPO:skoehler OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0002594 PMID:15068978 PCS HP:0040284 O 2010-12-28 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0002910 PMID:15930087 PCS HP:0040282 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0003076 OMIM:137920 PCS HP:0040282 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0003259 OMIM:137920 PCS HP:0040282 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0003674 OMIM:137920 PCS C 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0003774 OMIM:137920 PCS HP:0040282 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0003812 OMIM:137920 PCS C 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0004379 PMID:15930087 PCS HP:0040284 O 2010-12-28 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0004904 PMID:15068978 PCS HP:0040284 O 2009-02-17 HPO:curators OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0005563 OMIM:137920 IEA O 2012-10-17 HPO:skoehler OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0012207 OMIM:137920 IEA O 2017-07-13 HPO:skoehler OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0030424 OMIM:137920 IEA O 2015-08-05 HPO:skoehler OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0030997 OMIM:137920 IEA O 2017-07-13 HPO:skoehler OMIM 137920 RENAL CYSTS AND DIABETES SYNDROME HP:0100611 PMID:15930087 PCS HP:0040284 O 2010-12-28 HPO:curators OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000006 OMIM:137940 TAS I 2009-02-17 HPO:probinson OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000034 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000286 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000300 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000303 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000426 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000431 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000535 OMIM:137940 TAS O 2009-02-17 HPO:probinson OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000561 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000653 OMIM:137940 TAS O 2012-03-01 HPO:probinson OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0000793 OMIM:137940 TAS O 2009-02-17 HPO:probinson OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0001004 OMIM:137940 IEA O 2015-12-30 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0001006 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0001263 OMIM:137940 IEA HP:0040283 O 2017-07-13 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0001596 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0002223 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0003189 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0003577 TAS C 2015-12-30 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0003676 TAS C 2015-12-30 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0003758 OMIM:137940 TAS O 2009-02-17 HPO:probinson OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0003758 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0005598 OMIM:137940 TAS O 2009-02-17 HPO:probinson OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0006521 TAS O 2015-12-30 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0007543 OMIM:137940 TAS O 2009-02-17 HPO:probinson OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0007621 OMIM:137940 TAS O 2009-02-17 HPO:probinson OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0012471 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0012622 TAS O 2015-12-30 HPO:skoehler OMIM 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HP:0100540 OMIM:137940 IEA O 2015-06-22 HPO:skoehler OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0000006 OMIM:137950 IEA I 2009-02-17 HPO:curators OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0000093 OMIM:137950 IEA O 2009-02-17 HPO:curators OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0000100 OMIM:137950 IEA O 2009-02-17 HPO:curators OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0000112 OMIM:137950 IEA O 2009-02-17 HPO:curators OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0000822 OMIM:137950 IEA O 2009-02-17 HPO:curators OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0002907 OMIM:137950 TAS O 2009-02-17 HPO:probinson OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0003677 OMIM:137950 IEA C 2012-10-17 HPO:skoehler OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0003774 OMIM:137950 IEA O 2012-10-17 HPO:skoehler OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0008636 OMIM:137950 IEA O 2015-01-21 HPO:skoehler OMIM 137950 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL HP:0100820 OMIM:137950 IEA O 2015-01-27 HPO:skoehler OMIM 138000 GLOMUVENOUS MALFORMATIONS HP:0000006 OMIM:138000 IEA I 2009-02-17 HPO:curators OMIM 138000 GLOMUVENOUS MALFORMATIONS HP:0000951 OMIM:138000 IEA O 2009-02-17 HPO:curators OMIM 138000 GLOMUVENOUS MALFORMATIONS HP:0001939 OMIM:138000 IEA O 2009-02-17 HPO:curators OMIM 138070 GLUCOGLYCINURIA HP:0000006 OMIM:138070 IEA I 2009-02-17 HPO:curators OMIM 138070 GLUCOGLYCINURIA HP:0003076 OMIM:138070 IEA O 2010-06-20 HPO:skoehler OMIM 138070 GLUCOGLYCINURIA HP:0003108 OMIM:138070 IEA O 2009-02-17 HPO:curators OMIM 138300 GLUTATHIONE REDUCTASE HP:0000007 OMIM:138300 IEA I 2009-02-17 HPO:curators OMIM 138300 GLUTATHIONE REDUCTASE HP:0001878 OMIM:138300 IEA O 2009-02-17 HPO:curators OMIM 138300 GLUTATHIONE REDUCTASE HP:0001939 OMIM:138300 IEA O 2009-02-17 HPO:curators OMIM 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS HP:0000006 OMIM:138500 TAS I 2009-02-17 HPO:probinson OMIM 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS HP:0003108 OMIM:138500 TAS O 2009-02-17 HPO:probinson OMIM 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS HP:0008672 OMIM:138500 TAS O 2014-05-24 HPO:probinson OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0000006 OMIM:138770 IEA I 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0000252 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0000286 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0000322 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0000369 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0000494 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0000558 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0001249 OMIM:138770 IEA O 2010-06-20 HPO:skoehler OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0003196 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0003508 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0004279 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0004467 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0005180 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0005280 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0008551 OMIM:138770 IEA O 2009-02-17 HPO:curators OMIM 138770 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME HP:0200055 OMIM:138770 IEA O 2012-10-17 HPO:skoehler OMIM 138790 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES;;MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;;MNG/CRD/DA HP:0000006 OMIM:138790 IEA I 2009-02-17 HPO:curators OMIM 138790 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES;;MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;;MNG/CRD/DA HP:0000107 OMIM:138790 IEA O 2013-03-15 HPO:skoehler OMIM 138790 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES;;MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;;MNG/CRD/DA HP:0001162 OMIM:138790 IEA O 2009-02-17 HPO:curators OMIM 138790 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES;;MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;;MNG/CRD/DA HP:0001841 OMIM:138790 IEA O 2009-02-17 HPO:curators OMIM 138790 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES;;MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;;MNG/CRD/DA HP:0005707 OMIM:138790 IEA O 2009-02-17 HPO:curators OMIM 138790 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES;;MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;;MNG/CRD/DA HP:0005987 OMIM:138790 IEA O 2009-02-17 HPO:curators OMIM 138800 GOITER, MULTINODULAR 1 HP:0000006 OMIM:138800 IEA I 2009-02-17 HPO:curators OMIM 138800 GOITER, MULTINODULAR 1 HP:0000866 OMIM:138800 IEA O 2009-02-17 HPO:curators OMIM 138800 GOITER, MULTINODULAR 1 HP:0002895 OMIM:138800 IEA O 2009-02-17 HPO:curators OMIM 138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 HP:0000951 OMIM:138900 IEA O 2009-02-17 HPO:curators OMIM 138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 HP:0001369 OMIM:138900 IEA O 2009-02-17 HPO:curators OMIM 138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 HP:0002149 OMIM:138900 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0000006 OMIM:138920 IEA I 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0000233 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0000325 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0000411 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0000430 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0000490 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0001511 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0001595 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0002007 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0003758 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0005322 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0005328 OMIM:138920 IEA O 2009-02-17 HPO:curators OMIM 138920 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE HP:0011220 OMIM:138920 IEA O 2012-10-17 HPO:skoehler OMIM 138930 GRANT SYNDROME HP:0000006 OMIM:138930 IEA I 2009-02-17 HPO:curators OMIM 138930 GRANT SYNDROME HP:0000347 OMIM:138930 IEA O 2009-02-17 HPO:curators OMIM 138930 GRANT SYNDROME HP:0000592 OMIM:138930 IEA O 2009-02-17 HPO:curators OMIM 138930 GRANT SYNDROME HP:0002645 OMIM:138930 IEA O 2010-06-20 HPO:skoehler OMIM 138930 GRANT SYNDROME HP:0002982 OMIM:138930 IEA O 2010-06-20 HPO:skoehler OMIM 138930 GRANT SYNDROME HP:0200021 OMIM:138930 IEA O 2009-02-17 HPO:curators OMIM 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE HP:0000006 OMIM:138990 TAS I 2013-05-29 HPO:skoehler OMIM 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE HP:0002955 OMIM:138990 TAS O 2015-02-15 HPO:probinson OMIM 139000 GRANULOSIS RUBRA NASI HP:0000006 OMIM:139000 TAS I 2009-02-17 HPO:probinson OMIM 139000 GRANULOSIS RUBRA NASI HP:0000975 OMIM:139000 TAS O 2009-02-17 HPO:probinson OMIM 139000 GRANULOSIS RUBRA NASI HP:0011463 OMIM:139000 TAS C 2012-07-17 HPO:probinson OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0000006 OMIM:139090 IEA I 2009-02-17 HPO:curators OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0000007 OMIM:139090 IEA I 2012-10-17 HPO:skoehler OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0000132 OMIM:139090 IEA O 2010-06-20 HPO:skoehler OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0000421 OMIM:139090 TAS O 2009-02-17 HPO:probinson OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0000978 OMIM:139090 TAS O 2009-02-17 HPO:skoehler OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0001744 OMIM:139090 IEA O 2009-02-17 HPO:curators OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0001873 OMIM:139090 IEA O 2009-02-17 HPO:curators OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0003010 OMIM:139090 IEA O 2009-02-17 HPO:curators OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0003676 OMIM:139090 IEA C 2012-10-17 HPO:skoehler OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0008320 OMIM:139090 TAS O 2012-05-30 HPO:probinson OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0008330 OMIM:139090 IEA O 2009-02-17 HPO:curators OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0011872 OMIM:139090 TAS O 2012-05-30 HPO:probinson OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0011974 OMIM:139090 IEA O 2012-10-17 HPO:skoehler OMIM 139090 #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY HP:0012147 OMIM:139090 IEA O 2012-10-17 HPO:skoehler OMIM 139100 %139100 GRAYING OF HAIR, PRECOCIOUS;;WHITE HAIR, PREMATURE HP:0000006 OMIM:139100 IEA I 2013-05-29 HPO:skoehler OMIM 139100 %139100 GRAYING OF HAIR, PRECOCIOUS;;WHITE HAIR, PREMATURE HP:0002216 OMIM:139100 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000006 OMIM:139210 IEA I 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000028 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000160 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000202 OMIM:139210 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000219 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000252 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000272 OMIM:139210 IEA O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000303 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000316 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000322 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000327 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000365 OMIM:139210 IEA O 2010-06-20 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000369 OMIM:139210 IEA O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000426 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000470 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000486 OMIM:139210 TAS O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000490 OMIM:139210 TAS O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000540 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000568 OMIM:139210 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000574 OMIM:139210 IEA O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000581 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000717 OMIM:139210 IEA O 2010-06-20 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000822 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000885 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0000926 OMIM:139210 TAS O 2013-04-14 HPO:probinson OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001072 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001156 OMIM:139210 IEA O 2014-11-26 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001249 OMIM:139210 TAS O 2009-02-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001250 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001251 OMIM:139210 TAS HP:0040283 O 2012-11-18 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001376 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001511 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001513 OMIM:139210 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001608 OMIM:139210 TAS O 2013-03-10 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001643 OMIM:139210 IEA O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001650 OMIM:139210 TAS O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001671 OMIM:139210 IEA O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001680 OMIM:139210 TAS O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001698 OMIM:139210 IEA O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001831 OMIM:139210 TAS O 2012-06-10 HPO:probinson OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0001845 OMIM:139210 IEA O 2012-11-21 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0002093 OMIM:139210 TAS HP:0040283 O 2012-11-18 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0002213 OMIM:139210 TAS O 2012-11-21 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0002684 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0002866 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0002878 OMIM:139210 IEA HP:0040283 O 2014-06-24 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0002948 OMIM:139210 IEA O 2012-11-21 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0003026 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0003720 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0004322 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0004621 OMIM:139210 TAS O 2013-04-14 HPO:probinson OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0004691 OMIM:139210 TAS O 2012-11-21 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0004894 OMIM:139210 IEA O 2012-11-21 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0008070 OMIM:139210 TAS O 2012-11-26 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0008551 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0009381 OMIM:139210 TAS O 2012-06-10 HPO:probinson OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0009466 OMIM:139210 IEA O 2009-02-17 HPO:curators OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0010579 OMIM:139210 TAS O 2012-10-17 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0011800 OMIM:139210 IEA O 2013-11-28 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0012385 OMIM:139210 IEA O 2013-10-22 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0030053 OMIM:139210 IEA O 2014-09-21 HPO:skoehler OMIM 139210 #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME HP:0030084 OMIM:139210 IEA O 2014-09-21 HPO:skoehler OMIM 139300 AROMATASE EXCESS SYNDROME HP:0000006 OMIM:139300 TAS I 2013-02-23 HPO:probinson OMIM 139300 AROMATASE EXCESS SYNDROME HP:0000771 OMIM:139300 TAS O 2009-02-17 HPO:probinson OMIM 139300 AROMATASE EXCESS SYNDROME HP:0004322 OMIM:139300 TAS O 2013-02-23 HPO:probinson OMIM 139300 AROMATASE EXCESS SYNDROME HP:0005616 OMIM:139300 TAS O 2013-02-23 HPO:probinson OMIM 139393 GUILLAIN-BARRE SYNDROME, FAMILIAL HP:0007131 OMIM:139393 IEA O 2009-02-17 HPO:curators OMIM 139400 HAIR WHORL HP:0000006 OMIM:139400 IEA I 2009-02-17 HPO:curators OMIM 139400 HAIR WHORL HP:0001595 OMIM:139400 IEA O 2009-02-17 HPO:curators OMIM 139450 HAIR, CURLY HP:0000006 OMIM:139450 IEA I 2009-02-17 HPO:curators OMIM 139450 HAIR, CURLY HP:0002212 OMIM:139450 IEA O 2009-02-17 HPO:curators OMIM 139500 HAIRY EARS HP:0008528 OMIM:139500 IEA O 2009-02-17 HPO:curators OMIM 139600 HAIRY ELBOWS HP:0000006 OMIM:139600 IEA I 2009-02-17 HPO:curators OMIM 139600 HAIRY ELBOWS HP:0004322 OMIM:139600 IEA O 2009-02-17 HPO:curators OMIM 139600 HAIRY ELBOWS HP:0004780 OMIM:139600 IEA O 2009-02-17 HPO:curators OMIM 139630 HAIRY NOSE TIP HP:0001595 OMIM:139630 IEA O 2009-02-17 HPO:curators OMIM 139650 HAIRY PALMS AND SOLES HP:0000006 OMIM:139650 IEA I 2009-02-17 HPO:curators OMIM 139650 HAIRY PALMS AND SOLES HP:0001034 OMIM:139650 IEA O 2010-06-20 HPO:skoehler OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0000006 OMIM:139750 IEA I 2009-02-17 HPO:curators OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0000272 OMIM:139750 IEA O 2009-02-17 HPO:curators OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0001249 OMIM:139750 IEA O 2009-02-17 HPO:curators OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0001319 OMIM:139750 IEA O 2009-02-17 HPO:curators OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0001760 OMIM:139750 IEA O 2015-01-19 HPO:skoehler OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0004322 OMIM:139750 IEA O 2009-02-17 HPO:curators OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0006070 OMIM:139750 TAS O 2013-03-31 HPO:probinson OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0009626 OMIM:139750 TAS O 2009-02-17 HPO:probinson OMIM 139750 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES HP:0012368 OMIM:139750 IEA O 2013-10-22 HPO:skoehler OMIM 139900 %139900 HAND SKILL, RELATIVE; HSR;;HANDEDNESS HP:0000006 OMIM:139900 IEA I 2012-10-16 HPO:skoehler OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0000006 OMIM:140000 IEA I 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0000041 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0000047 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0000048 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0000054 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0000074 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0000076 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0000083 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0001156 TAS O 2015-12-30 HPO:skoehler OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0001216 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0001245 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0001885 OMIM:140000 TAS O 2009-02-17 HPO:probinson OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0003762 OMIM:140000 IEA O 2012-10-17 HPO:skoehler OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0004209 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0006110 OMIM:140000 TAS O 2012-06-09 HPO:probinson OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0008080 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0008103 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0008740 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0009237 OMIM:140000 TAS O 2009-02-17 HPO:probinson OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0009237 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0009464 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0009623 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0010034 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0010105 OMIM:140000 IEA O 2009-02-17 HPO:curators OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0010109 OMIM:140000 IEA O 2012-10-17 HPO:skoehler OMIM 140000 HAND-FOOT-GENITAL SYNDROME; HFG HP:0010584 OMIM:140000 IEA O 2010-06-18 HPO:skoehler OMIM 140300 HASHIMOTO THYROIDITIS HP:0000006 OMIM:140300 TAS I 2009-02-17 HPO:probinson OMIM 140300 HASHIMOTO THYROIDITIS HP:0000872 OMIM:140300 TAS O 2009-02-17 HPO:probinson OMIM 140300 HASHIMOTO THYROIDITIS HP:0030057 OMIM:140300 TAS O 2015-02-15 HPO:probinson OMIM 140350 HAWKINSINURIA HP:0000006 OMIM:140350 IEA I 2009-02-17 HPO:curators OMIM 140350 HAWKINSINURIA HP:0001508 OMIM:140350 IEA O 2009-02-17 HPO:curators OMIM 140350 HAWKINSINURIA HP:0001942 OMIM:140350 IEA O 2009-02-17 HPO:curators OMIM 140350 HAWKINSINURIA HP:0003161 OMIM:140350 IEA O 2009-02-17 HPO:curators OMIM 140350 HAWKINSINURIA HP:0003231 OMIM:140350 IEA O 2009-02-17 HPO:curators OMIM 140350 HAWKINSINURIA HP:0003607 OMIM:140350 IEA O 2009-02-17 HPO:curators OMIM 140400 %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII HP:0000006 OMIM:140400 PCS I 2012-04-11 HPO:probinson OMIM 140400 %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII HP:0001279 OMIM:140400 PCS O 2012-04-11 HPO:probinson OMIM 140400 %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII HP:0001645 OMIM:140400 PCS O 2012-04-11 HPO:probinson OMIM 140400 %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII HP:0001688 OMIM:140400 PCS O 2012-04-11 HPO:probinson OMIM 140400 %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII HP:0001699 OMIM:140400 IEA M 2012-10-17 HPO:skoehler OMIM 140400 %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII HP:0005178 OMIM:140400 PCS O 2012-04-11 HPO:probinson OMIM 140450 140450 HEART-HAND SYNDROME, SPANISH TYPE HP:0000006 OMIM:140450 IEA I 2009-02-17 HPO:curators OMIM 140450 140450 HEART-HAND SYNDROME, SPANISH TYPE HP:0001156 OMIM:140450 IEA O 2009-02-17 HPO:curators OMIM 140450 140450 HEART-HAND SYNDROME, SPANISH TYPE HP:0001626 OMIM:140450 IEA O 2009-02-17 HPO:curators OMIM 140450 140450 HEART-HAND SYNDROME, SPANISH TYPE HP:0005819 OMIM:140450 TAS O 2009-02-17 HPO:skoehler OMIM 140450 140450 HEART-HAND SYNDROME, SPANISH TYPE HP:0009464 OMIM:140450 IEA O 2009-02-17 HPO:curators OMIM 140450 140450 HEART-HAND SYNDROME, SPANISH TYPE HP:0011704 OMIM:140450 TAS O 2012-10-17 HPO:skoehler OMIM 140500 HEART, MALFORMATION OF HP:0004383 OMIM:140500 IEA O 2010-06-20 HPO:skoehler OMIM 140600 OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS HP:0000006 OMIM:140600 TAS I 2013-04-01 HPO:probinson OMIM 140600 OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS HP:0002758 OMIM:140600 TAS O 2009-02-17 HPO:probinson OMIM 140600 OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS HP:0012313 OMIM:140600 TAS O 2013-08-10 HPO:probinson OMIM 140700 HEINZ BODY ANEMIAS HP:0000006 OMIM:140700 IEA I 2009-02-17 HPO:curators OMIM 140700 HEINZ BODY ANEMIAS HP:0001930 OMIM:140700 IEA O 2009-02-17 HPO:curators OMIM 140700 HEINZ BODY ANEMIAS HP:0001939 OMIM:140700 IEA O 2009-02-17 HPO:curators OMIM 140700 HEINZ BODY ANEMIAS HP:0005511 OMIM:140700 IEA O 2015-01-21 HPO:skoehler OMIM 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE HP:0000006 OMIM:140850 IEA I 2009-02-17 HPO:curators OMIM 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE HP:0007486 OMIM:140850 IEA O 2009-02-17 HPO:curators OMIM 140900 HEMANGIOMAS OF SMALL INTESTINE HP:0000006 OMIM:140900 IEA I 2009-02-17 HPO:curators OMIM 140900 HEMANGIOMAS OF SMALL INTESTINE HP:0001048 OMIM:140900 TAS O 2009-02-17 HPO:curators OMIM 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME HP:0000006 OMIM:141000 IEA I 2009-02-17 HPO:curators OMIM 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME HP:0001028 OMIM:141000 IEA O 2010-06-20 HPO:skoehler OMIM 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME HP:0001873 OMIM:141000 IEA O 2009-02-17 HPO:curators OMIM 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME HP:0001937 OMIM:141000 IEA O 2009-02-17 HPO:curators OMIM 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME HP:0002153 OMIM:141000 IEA O 2009-02-17 HPO:curators OMIM 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME HP:0004308 OMIM:141000 IEA O 2010-06-20 HPO:skoehler OMIM 141200 #141200 HEMATURIA, BENIGN FAMILIAL; BFH;;THIN-BASEMENT-MEMBRANE NEPHROPATHY;;THIN MEMBRANE NEPHROPATHY; TMN HP:0000006 OMIM:141200 IEA I 2009-02-17 HPO:curators OMIM 141200 #141200 HEMATURIA, BENIGN FAMILIAL; BFH;;THIN-BASEMENT-MEMBRANE NEPHROPATHY;;THIN MEMBRANE NEPHROPATHY; TMN HP:0000790 OMIM:141200 IEA O 2009-02-17 HPO:curators OMIM 141200 #141200 HEMATURIA, BENIGN FAMILIAL; BFH;;THIN-BASEMENT-MEMBRANE NEPHROPATHY;;THIN MEMBRANE NEPHROPATHY; TMN HP:0003680 OMIM:141200 IEA C 2012-10-17 HPO:skoehler OMIM 141200 #141200 HEMATURIA, BENIGN FAMILIAL; BFH;;THIN-BASEMENT-MEMBRANE NEPHROPATHY;;THIN MEMBRANE NEPHROPATHY; TMN HP:0012577 OMIM:141200 IEA O 2014-01-28 HPO:skoehler OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0000490 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0000581 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0000684 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0000689 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0001250 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0001251 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0002076 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0002229 OMIM:141300 TAS O 2009-02-17 HPO:skoehler OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0002277 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0002290 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0002808 OMIM:141300 IEA O 2010-06-20 HPO:skoehler OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0003674 OMIM:141300 IEA C 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0003745 OMIM:141300 IEA I 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0003778 OMIM:141300 IEA O 2009-02-17 HPO:curators OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0008551 OMIM:141300 TAS O 2009-02-17 HPO:skoehler OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0011331 OMIM:141300 TAS O 2015-01-21 HPO:skoehler OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0012473 TAS O 2015-12-30 HPO:skoehler OMIM 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA HP:0100661 OMIM:141300 TAS O 2012-10-17 HPO:skoehler OMIM 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS HP:0000006 OMIM:141350 IEA I 2009-02-17 HPO:curators OMIM 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS HP:0000176 OMIM:141350 IEA O 2009-02-17 HPO:curators OMIM 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS HP:0000486 OMIM:141350 IEA O 2009-02-17 HPO:curators OMIM 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS HP:0000646 OMIM:141350 IEA O 2009-02-17 HPO:curators OMIM 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS HP:0005323 OMIM:141350 IEA O 2009-02-17 HPO:curators OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0000006 OMIM:141400 TAS I 2009-02-17 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0000175 OMIM:141400 TAS O 2012-03-31 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0000324 OMIM:141400 TAS O 2009-02-17 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0000384 OMIM:141400 TAS O 2012-03-31 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0000405 OMIM:141400 TAS O 2009-02-17 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0000413 OMIM:141400 TAS O 2009-02-17 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0001199 OMIM:141400 TAS O 2009-02-17 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0003778 OMIM:141400 TAS O 2009-02-17 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0004467 OMIM:141400 TAS O 2012-03-31 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0008551 OMIM:141400 TAS O 2012-03-31 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0009943 OMIM:141400 TAS O 2009-02-17 HPO:probinson OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0011332 OMIM:141400 IEA O 2017-07-13 HPO:skoehler OMIM 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS HP:0100335 OMIM:141400 TAS O 2012-03-31 HPO:probinson OMIM 141405 141405 HEMIFACIAL SPASM, FAMILIAL HP:0000006 OMIM:141405 IEA I 2009-02-17 HPO:curators OMIM 141405 141405 HEMIFACIAL SPASM, FAMILIAL HP:0010828 OMIM:141405 IEA O 2012-10-17 HPO:skoehler OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0000006 IEA I 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0000639 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0000709 OMIM:141500 IEA O 2013-01-22 HPO:skoehler OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0000713 OMIM:141500 IEA O 2013-01-22 HPO:skoehler OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0000739 OMIM:141500 IEA O 2013-01-22 HPO:skoehler OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001125 OMIM:141500 PCS O 2012-04-06 HPO:probinson OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001250 OMIM:141500 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001251 OMIM:141500 PCS O 2012-04-06 HPO:probinson OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001259 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001269 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001272 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001289 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001337 OMIM:141500 IEA HP:0040283 O 2012-11-18 HPO:skoehler OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001425 OMIM:141500 IEA I 2012-10-17 HPO:skoehler OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0001945 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0002077 OMIM:141500 IEA O 2013-01-22 HPO:skoehler OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0002301 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0002329 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0002357 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0002367 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0002442 IEA O 2009-02-17 HPO:curators OMIM 141500 #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED HP:0008765 IEA O 2009-02-17 HPO:curators OMIM 141700 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES HP:0000006 OMIM:141700 TAS I 2009-02-17 HPO:curators OMIM 141700 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES HP:0001930 OMIM:141700 TAS O 2009-02-17 HPO:curators OMIM 141700 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES HP:0004445 OMIM:141700 IEA O 2013-02-25 HPO:skoehler OMIM 141700 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES HP:0005511 OMIM:141700 TAS O 2009-02-17 HPO:curators OMIM 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 HP:0000006 OMIM:141749 TAS I 2009-02-17 HPO:probinson OMIM 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 HP:0011904 OMIM:141749 TAS O 2013-12-15 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000006 OMIM:141750 TAS I 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000028 OMIM:141750 TAS O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000047 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000054 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000158 OMIM:141750 IEA O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000218 OMIM:141750 TAS O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000252 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000278 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000286 OMIM:141750 TAS O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000316 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000337 OMIM:141750 TAS O 2012-05-01 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000343 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000431 OMIM:141750 TAS O 2012-05-01 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000451 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000463 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000465 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000470 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000494 OMIM:141750 TAS O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000508 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0000678 OMIM:141750 TAS O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0001249 OMIM:141750 IEA O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0001250 OMIM:141750 TAS HP:0040283 O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0001466 OMIM:141750 IEA I 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0001513 OMIM:141750 IEA O 2017-07-13 HPO:skoehler OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0001555 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0001643 OMIM:141750 IEA O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0001762 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0002558 OMIM:141750 IEA O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0003812 OMIM:141750 IEA C 2012-10-17 HPO:skoehler OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0004322 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0004425 OMIM:141750 TAS O 2012-05-01 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0004840 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0005280 OMIM:141750 TAS O 2012-05-01 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0008551 OMIM:141750 TAS O 2009-02-17 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0009466 OMIM:141750 IEA O 2009-02-17 HPO:curators OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0010808 OMIM:141750 TAS O 2012-06-03 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0011903 OMIM:141750 TAS O 2012-06-03 HPO:probinson OMIM 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED HP:0011907 OMIM:141750 TAS O 2012-06-03 HPO:probinson OMIM 141800 +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED HP:0000006 OMIM:141800 IEA I 2009-02-17 HPO:curators OMIM 141800 +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED HP:0000952 OMIM:141800 IEA O 2012-10-17 HPO:skoehler OMIM 141800 +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED HP:0000961 OMIM:141800 IEA O 2012-10-17 HPO:skoehler OMIM 141800 +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED HP:0001901 OMIM:141800 IEA O 2013-01-22 HPO:skoehler OMIM 141800 +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED HP:0004840 OMIM:141800 TAS O 2012-06-03 HPO:probinson OMIM 141800 +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED HP:0005511 OMIM:141800 IEA O 2013-01-22 HPO:skoehler OMIM 141800 +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED HP:0011907 OMIM:141800 TAS O 2012-06-03 HPO:probinson OMIM 141800 +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED HP:0012119 OMIM:141800 IEA O 2013-01-22 HPO:skoehler OMIM 141860 HEMOGLOBIN--ALPHA LOCUS 3 HP:0000006 OMIM:141860 IEA I 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0000790 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0000952 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0000961 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0001081 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0001744 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0001878 OMIM:141900 TAS O 2009-02-17 HPO:probinson OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0001901 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0001935 OMIM:141900 TAS O 2009-02-17 HPO:probinson OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0002754 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0004727 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0004810 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0005511 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0005524 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0008346 OMIM:141900 IEA O 2009-02-17 HPO:curators OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0010885 OMIM:141900 IEA O 2012-10-17 HPO:skoehler OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0011904 OMIM:141900 TAS O 2012-06-03 HPO:probinson OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0025066 OMIM:141900 IEA O 2017-07-13 HPO:skoehler OMIM 141900 HEMOGLOBIN--BETA LOCUS HP:0200023 OMIM:141900 IEA O 2010-06-18 HPO:skoehler OMIM 142000 HEMOGLOBIN--DELTA LOCUS HP:0000006 OMIM:142000 IEA I 2009-02-17 HPO:curators OMIM 142000 HEMOGLOBIN--DELTA LOCUS HP:0001903 OMIM:142000 TAS O 2015-02-15 HPO:curators OMIM 142000 HEMOGLOBIN--DELTA LOCUS HP:0005560 OMIM:142000 TAS O 2015-02-15 HPO:curators OMIM 142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION ISUNKNOWN OR UNCERTAIN HP:0000006 OMIM:142309 IEA I 2009-02-17 HPO:curators OMIM 142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION ISUNKNOWN OR UNCERTAIN HP:0004825 OMIM:142309 IEA O 2009-02-17 HPO:curators OMIM 142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION ISUNKNOWN OR UNCERTAIN HP:0004863 OMIM:142309 TAS O 2009-02-17 HPO:probinson OMIM 142310 HEMOGLOBIN--ZETA LOCUS HP:0000006 OMIM:142310 IEA I 2009-02-17 HPO:curators OMIM 142310 HEMOGLOBIN--ZETA LOCUS HP:0003826 OMIM:142310 IEA M 2009-02-17 HPO:curators OMIM 142310 HEMOGLOBIN--ZETA LOCUS HP:0011902 OMIM:142310 IEA O 2009-02-17 HPO:curators OMIM 142330 HEPATIC ADENOMAS, FAMILIAL HP:0000006 OMIM:142330 IEA I 2009-02-17 HPO:curators OMIM 142330 HEPATIC ADENOMAS, FAMILIAL HP:0000147 OMIM:142330 IEA O 2009-02-17 HPO:curators OMIM 142330 HEPATIC ADENOMAS, FAMILIAL HP:0004904 OMIM:142330 IEA O 2009-02-17 HPO:curators OMIM 142330 HEPATIC ADENOMAS, FAMILIAL HP:0012028 OMIM:142330 TAS O 2009-02-17 HPO:probinson OMIM 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5 HP:0000006 OMIM:142335 IEA I 2009-02-17 HPO:curators OMIM 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5 HP:0001871 OMIM:142335 IEA O 2009-02-17 HPO:curators OMIM 142340 DIAPHRAGMATIC HERNIA, CONGENITAL HP:0000776 OMIM:142340 IEA O 2009-02-17 HPO:curators OMIM 142340 DIAPHRAGMATIC HERNIA, CONGENITAL HP:0001426 OMIM:142340 IEA I 2009-02-17 HPO:curators OMIM 142350 HERNIA, DOUBLE INGUINAL HP:0000023 OMIM:142350 IEA O 2010-06-20 HPO:skoehler OMIM 142395 HEPATITIS B VACCINE, RESPONSE TO HP:0000006 OMIM:142395 IEA I 2009-02-17 HPO:curators OMIM 142395 HEPATITIS B VACCINE, RESPONSE TO HP:0012115 OMIM:142395 IEA O 2015-01-27 HPO:skoehler OMIM 142400 HERNIA, HIATUS HP:0000006 OMIM:142400 IEA I 2009-02-17 HPO:curators OMIM 142400 HERNIA, HIATUS HP:0000765 OMIM:142400 IEA O 2009-02-17 HPO:curators OMIM 142400 HERNIA, HIATUS HP:0002036 OMIM:142400 IEA O 2009-02-17 HPO:curators OMIM 142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2 HP:0000006 OMIM:142470 IEA I 2009-02-17 HPO:curators OMIM 142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2 HP:0001871 OMIM:142470 IEA O 2009-02-17 HPO:curators OMIM 142500 142500 HETEROCHROMIA IRIDIS HP:0000006 OMIM:142500 IEA I 2009-02-17 HPO:curators OMIM 142500 142500 HETEROCHROMIA IRIDIS HP:0001100 OMIM:142500 IEA O 2009-02-17 HPO:curators OMIM 142500 142500 HETEROCHROMIA IRIDIS HP:0200064 OMIM:142500 IEA O 2013-05-31 HPO:skoehler OMIM 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HP:0000006 OMIM:142623 IEA I 2009-02-17 HPO:curators OMIM 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HP:0002013 OMIM:142623 IEA O 2009-02-17 HPO:curators OMIM 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HP:0002019 OMIM:142623 IEA O 2009-02-17 HPO:curators OMIM 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HP:0002251 OMIM:142623 IEA O 2009-02-17 HPO:curators OMIM 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HP:0003270 OMIM:142623 IEA O 2009-02-17 HPO:curators OMIM 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HP:0004362 OMIM:142623 TAS O 2015-05-23 HPO:curators OMIM 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HP:0004387 OMIM:142623 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0000006 OMIM:142625 IEA I 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0000232 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0000248 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0000286 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0000316 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0000431 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0000472 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0000494 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0001007 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0001249 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0001761 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0002149 OMIM:142625 TAS O 2013-03-11 HPO:probinson OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0002652 OMIM:142625 IEA O 2015-01-27 HPO:skoehler OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0002673 OMIM:142625 IEA O 2009-02-17 HPO:curators OMIM 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME HP:0200021 OMIM:142625 TAS O 2009-02-17 HPO:probinson OMIM 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS HP:0000006 OMIM:142630 IEA I 2009-02-17 HPO:curators OMIM 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS HP:0008069 OMIM:142630 IEA O 2010-06-20 HPO:skoehler OMIM 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS HP:0040138 OMIM:142630 IEA O 2015-01-21 HPO:skoehler OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0000006 OMIM:142669 TAS I 2009-02-17 HPO:probinson OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0001385 OMIM:142669 TAS O 2009-02-17 HPO:probinson OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0002758 OMIM TAS O 2015-12-30 HPO:skoehler OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0003182 OMIM:142669 TAS O 2009-02-17 HPO:probinson OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0003370 OMIM:142669 TAS O 2015-02-28 HPO:probinson OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0005041 OMIM:142669 TAS O 2015-02-28 HPO:probinson OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0005743 OMIM:142669 TAS O 2013-04-07 HPO:probinson OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0006429 OMIM:142669 TAS O 2009-02-17 HPO:probinson OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0008783 OMIM:142669 TAS O 2009-02-17 HPO:probinson OMIM 142669 HIP DYSPLASIA, BEUKES TYPE HP:0011463 OMIM:142669 TAS C 2012-07-28 HPO:probinson OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0000006 OMIM:142680 IEA I 2009-02-17 HPO:curators OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0000969 OMIM:142680 IEA O 2010-06-20 HPO:skoehler OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0000988 OMIM:142680 TAS O 2009-02-17 HPO:curators OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0001954 OMIM:142680 TAS O 2009-02-17 HPO:curators OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0002027 OMIM:142680 IEA O 2010-06-20 HPO:skoehler OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0002829 OMIM:142680 IEA O 2009-02-17 HPO:curators OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0003326 OMIM:142680 TAS O 2009-02-17 HPO:curators OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0003552 OMIM:142680 IEA O 2009-02-17 HPO:curators OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0003565 OMIM:142680 IEA O 2009-02-17 HPO:curators OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0011034 OMIM:142680 IEA O 2009-02-17 HPO:curators OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0012280 OMIM:142680 TAS O 2013-04-07 HPO:probinson OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0030953 OMIM:142680 IEA O 2017-07-13 HPO:skoehler OMIM 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0100539 OMIM:142680 TAS O 2012-10-17 HPO:skoehler OMIM 142690 ACNE INVERSA, FAMILIAL HP:0000006 OMIM:142690 IEA I 2009-02-17 HPO:curators OMIM 142690 ACNE INVERSA, FAMILIAL HP:0000987 OMIM:142690 IEA O 2009-02-17 HPO:curators OMIM 142690 ACNE INVERSA, FAMILIAL HP:0040154 OMIM:142690 IEA O 2015-08-05 HPO:skoehler OMIM 142700 ACETABULAR DYSPLASIAHIP, DISLOCATION OF, CONGENITAL, INCLUDED HP:0001374 OMIM:142700 IEA O 2009-02-17 HPO:curators OMIM 142700 ACETABULAR DYSPLASIAHIP, DISLOCATION OF, CONGENITAL, INCLUDED HP:0001426 OMIM:142700 IEA I 2009-02-17 HPO:curators OMIM 142700 ACETABULAR DYSPLASIAHIP, DISLOCATION OF, CONGENITAL, INCLUDED HP:0008807 OMIM:142700 IEA O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0000006 OMIM:142900 IEA I 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0000766 OMIM:142900 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0001191 OMIM:142900 IEA O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0001199 OMIM:142900 IEA O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0001629 OMIM:142900 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0001631 OMIM:142900 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0001643 OMIM:142900 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0002943 OMIM:142900 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0002984 OMIM:142900 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0003468 OMIM:142900 IEA O 2012-10-17 HPO:skoehler OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0004383 OMIM:142900 IEA O 2010-06-20 HPO:skoehler OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0009751 OMIM:142900 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0009777 OMIM:142900 IEA O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0009829 OMIM:142900 IEA HP:0040284 O 2009-02-17 HPO:curators OMIM 142900 #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA HP:0009944 OMIM:142900 IEA O 2009-02-17 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0000006 OMIM:142945 TAS I 2012-04-24 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0000126 OMIM:142945 TAS O 2012-04-24 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0000272 OMIM:142945 TAS O 2012-04-24 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0000366 OMIM:142945 TAS O 2012-04-24 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0000601 OMIM:142945 TAS O 2012-04-24 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0001360 OMIM:142945 TAS O 2012-04-24 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0003829 OMIM:142945 TAS C 2010-03-10 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0009914 OMIM:142945 TAS O 2012-04-24 HPO:curators OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0011800 OMIM:142945 IEA O 2013-11-28 HPO:skoehler OMIM 142945 #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3 HP:0012806 OMIM:142945 IEA O 2014-06-24 HPO:skoehler OMIM 142946 HOLOPROSENCEPHALY 4 HP:0000006 OMIM:142946 IEA I 2009-02-17 HPO:curators OMIM 142946 HOLOPROSENCEPHALY 4 HP:0000161 OMIM:142946 TAS O 2009-02-17 HPO:skoehler OMIM 142946 HOLOPROSENCEPHALY 4 HP:0000437 OMIM:142946 IEA O 2009-02-17 HPO:curators OMIM 142946 HOLOPROSENCEPHALY 4 HP:0000508 OMIM:142946 IEA O 2009-02-17 HPO:curators OMIM 142946 HOLOPROSENCEPHALY 4 HP:0000601 OMIM:142946 IEA O 2009-02-17 HPO:curators OMIM 142946 HOLOPROSENCEPHALY 4 HP:0002507 OMIM:142946 IEA O 2009-02-17 HPO:curators OMIM 142946 HOLOPROSENCEPHALY 4 HP:0005273 OMIM:142946 IEA O 2009-02-17 HPO:curators OMIM 142946 HOLOPROSENCEPHALY 4 HP:0005280 OMIM:142946 IEA O 2009-02-17 HPO:curators OMIM 142946 HOLOPROSENCEPHALY 4 HP:0008501 OMIM:142946 IEA O 2009-02-17 HPO:curators OMIM 143000 HORNER SYNDROME, CONGENITAL HP:0000006 OMIM:143000 IEA I 2009-02-17 HPO:curators OMIM 143000 HORNER SYNDROME, CONGENITAL HP:0000490 OMIM:143000 IEA O 2009-02-17 HPO:curators OMIM 143000 HORNER SYNDROME, CONGENITAL HP:0001100 OMIM:143000 IEA O 2009-02-17 HPO:curators OMIM 143000 HORNER SYNDROME, CONGENITAL HP:0006837 OMIM:143000 IEA O 2009-02-17 HPO:curators OMIM 143000 HORNER SYNDROME, CONGENITAL HP:0007451 OMIM:143000 IEA O 2009-02-17 HPO:curators OMIM 143050 HUMERORADIAL SYNOSTOSIS HP:0000006 OMIM:143050 IEA I 2009-02-17 HPO:curators OMIM 143050 HUMERORADIAL SYNOSTOSIS HP:0003041 OMIM:143050 IEA O 2009-02-17 HPO:curators OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000006 OMIM:143095 TAS I 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000007 OMIM:143095 IEA I 2012-10-17 HPO:skoehler OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000218 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000316 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000337 OMIM:143095 TAS HP:0040282 O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000343 OMIM:143095 TAS HP:0040282 O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000365 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000470 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000535 OMIM:143095 TAS HP:0040282 O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000684 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000687 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000691 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0000914 TAS O 2015-12-30 HPO:skoehler OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001156 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001552 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001629 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001642 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001650 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001653 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001659 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001714 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001718 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001762 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0001763 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002092 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002194 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002515 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002553 OMIM:143095 TAS HP:0040282 O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002655 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002750 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002751 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002829 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002857 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002938 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002945 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002967 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0002982 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003022 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003031 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003040 OMIM:143095 IEA O 2013-01-22 HPO:skoehler OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003042 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003071 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003090 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003093 OMIM:143095 TAS O 2012-05-28 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003184 OMIM:143095 IEA O 2013-01-22 HPO:skoehler OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003301 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003417 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0003834 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0004976 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0005180 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0006067 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0006462 OMIM:143095 TAS O 2012-05-27 HPO:probinson OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0006471 OMIM:143095 IEA O 2013-01-22 HPO:skoehler OMIM 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HP:0006610 OMIM:143095