SuccessConsole Output

Started by user koehler
Building in workspace /var/lib/jenkins/jobs/hpo.annotations.monthly/workspace
Cleaning local Directory .
Checking out https://github.com/monarch-initiative/hpo-annotation-data/trunk/util@HEAD at revision HEAD
A         annotation
A         annotation/.gitignore
A         annotation/external_data.txt
A         annotation/makefile
A         tools
A         tools/annotationupdate
A         tools/annotationupdate/external_data.txt
A         tools/annotationupdate/jar
A         tools/annotationupdate/jar/SuggestAnnotations.jar
A         tools/annotationupdate/makefile
A         tools/gene2phenotype
A         tools/gene2phenotype/createGene2Phenotype.jar
A         tools/hpo_mysqldb
A         tools/hpo_mysqldb/createMysqlHPODbVersion.jar
A         tools/hpo_mysqldb/schemabackup_2010-06-18.sql
At revision 4591
[workspace] $ /bin/sh -xe /tmp/hudson4981898182766568064.sh
+ make -C annotation
make: Entering directory '/var/lib/jenkins/jobs/hpo.annotations.monthly/workspace/annotation'
mkdir -p data
#some cleanup beforehand
rm -f data/hp.obo
rm -f data/phenotype_annotation.tab
# Employ wget to retrieve data from NCBI/OMIM, Orphanet, HPO stuff. 
# File are listed in data.txt. We also ignore lines starting with "#"
cd data ; cat ../external_data.txt | sed "/^#.*$/d" | wget --retry-connrefused -N -i -
--2017-03-10 13:18:43--  ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen
Resolving proxy.charite.de (proxy.charite.de)... 141.42.1.215
Connecting to proxy.charite.de (proxy.charite.de)|141.42.1.215|:8080... connected.
Proxy request sent, awaiting response... 200 OK
Length: 743621 (726K) [text/plain]
Saving to: ‘mim2gene_medgen’

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   700K .......... .......... ......                          100% 71.6M=0.04s

2017-03-10 13:18:46 (19.2 MB/s) - ‘mim2gene_medgen’ saved [743621/743621]

--2017-03-10 13:18:46--  ftp://ftp.ncbi.nih.gov/gene/DATA/GENE_INFO/Mammalia/Homo_sapiens.gene_info.gz
Reusing existing connection to proxy.charite.de:8080.
Proxy request sent, awaiting response... 200 OK
Length: 2817120 (2.7M) [text/plain]
Saving to: ‘Homo_sapiens.gene_info.gz’

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  2750K .                                                     100% 2086G=0.6s

2017-03-10 13:18:51 (4.61 MB/s) - ‘Homo_sapiens.gene_info.gz’ saved [2817120/2817120]

--2017-03-10 13:18:51--  http://www.orphadata.org/data/xml/en_product6.xml
Reusing existing connection to proxy.charite.de:8080.
Proxy request sent, awaiting response... 200 OK
Length: 17676702 (17M) [text/xml]
Saving to: ‘en_product6.xml’

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 17250K .......... ..                                         100% 63.1M=1.7s

2017-03-10 13:18:52 (10.2 MB/s) - ‘en_product6.xml’ saved [17676702/17676702]

--2017-03-10 13:18:52--  http://compbio.charite.de/jenkins/job/hpo.annotations/lastSuccessfulBuild/artifact/misc/phenotype_annotation.tab
Reusing existing connection to proxy.charite.de:8080.
Proxy request sent, awaiting response... 200 OK
Length: 18593807 (18M) [application/octet-stream]
Saving to: ‘phenotype_annotation.tab’

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2017-03-10 13:18:53 (32.0 MB/s) - ‘phenotype_annotation.tab’ saved [18593807/18593807]

--2017-03-10 13:18:53--  http://purl.obolibrary.org/obo/hp.obo
Reusing existing connection to proxy.charite.de:8080.
Proxy request sent, awaiting response... 302 Found
Location: https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/hp.obo [following]
--2017-03-10 13:18:53--  https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/hp.obo
Connecting to proxy.charite.de (proxy.charite.de)|141.42.1.215|:8080... connected.
Proxy request sent, awaiting response... 200 OK
Length: 5213846 (5.0M) [text/plain]
Saving to: ‘hp.obo’

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  1550K .......... .......... .......... .......... .......... 31% 5.26M 1s
  1600K .......... .......... .......... .......... .......... 32% 13.0M 1s
  1650K .......... .......... .......... .......... .......... 33% 8.92M 1s
  1700K .......... .......... .......... .......... .......... 34% 10.2M 1s
  1750K .......... .......... .......... .......... .......... 35% 8.62M 1s
  1800K .......... .......... .......... .......... .......... 36% 8.47M 1s
  1850K .......... .......... .......... .......... .......... 37% 12.1M 1s
  1900K .......... .......... .......... .......... .......... 38% 10.6M 1s
  1950K .......... .......... .......... .......... .......... 39% 7.58M 1s
  2000K .......... .......... .......... .......... .......... 40% 10.9M 1s
  2050K .......... .......... .......... .......... .......... 41% 8.98M 1s
  2100K .......... .......... .......... .......... .......... 42% 9.14M 0s
  2150K .......... .......... .......... .......... .......... 43% 13.5M 0s
  2200K .......... .......... .......... .......... .......... 44% 5.26M 0s
  2250K .......... .......... .......... .......... .......... 45% 15.1M 0s
  2300K .......... .......... .......... .......... .......... 46% 22.0M 0s
  2350K .......... .......... .......... .......... .......... 47% 7.48M 0s
  2400K .......... .......... .......... .......... .......... 48% 15.2M 0s
  2450K .......... .......... .......... .......... .......... 49% 12.0M 0s
  2500K .......... .......... .......... .......... .......... 50% 13.7M 0s
  2550K .......... .......... .......... .......... .......... 51% 9.26M 0s
  2600K .......... .......... .......... .......... .......... 52% 15.4M 0s
  2650K .......... .......... .......... .......... .......... 53% 11.9M 0s
  2700K .......... .......... .......... .......... .......... 54% 13.9M 0s
  2750K .......... .......... .......... .......... .......... 54% 6.49M 0s
  2800K .......... .......... .......... .......... .......... 55% 15.4M 0s
  2850K .......... .......... .......... .......... .......... 56% 31.6M 0s
  2900K .......... .......... .......... .......... .......... 57% 13.9M 0s
  2950K .......... .......... .......... .......... .......... 58% 10.5M 0s
  3000K .......... .......... .......... .......... .......... 59% 15.8M 0s
  3050K .......... .......... .......... .......... .......... 60% 12.5M 0s
  3100K .......... .......... .......... .......... .......... 61% 21.5M 0s
  3150K .......... .......... .......... .......... .......... 62% 7.68M 0s
  3200K .......... .......... .......... .......... .......... 63% 14.9M 0s
  3250K .......... .......... .......... .......... .......... 64% 22.7M 0s
  3300K .......... .......... .......... .......... .......... 65% 10.9M 0s
  3350K .......... .......... .......... .......... .......... 66% 13.9M 0s
  3400K .......... .......... .......... .......... .......... 67% 17.5M 0s
  3450K .......... .......... .......... .......... .......... 68% 16.7M 0s
  3500K .......... .......... .......... .......... .......... 69% 10.3M 0s
  3550K .......... .......... .......... .......... .......... 70% 12.7M 0s
  3600K .......... .......... .......... .......... .......... 71% 9.08M 0s
  3650K .......... .......... .......... .......... .......... 72% 9.98M 0s
  3700K .......... .......... .......... .......... .......... 73% 29.3M 0s
  3750K .......... .......... .......... .......... .......... 74% 10.5M 0s
  3800K .......... .......... .......... .......... .......... 75% 19.8M 0s
  3850K .......... .......... .......... .......... .......... 76% 39.9M 0s
  3900K .......... .......... .......... .......... .......... 77% 42.3M 0s
  3950K .......... .......... .......... .......... .......... 78% 12.7M 0s
  4000K .......... .......... .......... .......... .......... 79% 10.6M 0s
  4050K .......... .......... .......... .......... .......... 80% 11.4M 0s
  4100K .......... .......... .......... .......... .......... 81% 19.8M 0s
  4150K .......... .......... .......... .......... .......... 82% 42.5M 0s
  4200K .......... .......... .......... .......... .......... 83% 9.05M 0s
  4250K .......... .......... .......... .......... .......... 84% 23.1M 0s
  4300K .......... .......... .......... .......... .......... 85% 18.4M 0s
  4350K .......... .......... .......... .......... .......... 86% 18.2M 0s
  4400K .......... .......... .......... .......... .......... 87% 11.8M 0s
  4450K .......... .......... .......... .......... .......... 88% 32.6M 0s
  4500K .......... .......... .......... .......... .......... 89% 8.74M 0s
  4550K .......... .......... .......... .......... .......... 90% 28.5M 0s
  4600K .......... .......... .......... .......... .......... 91% 39.9M 0s
  4650K .......... .......... .......... .......... .......... 92% 31.5M 0s
  4700K .......... .......... .......... .......... .......... 93% 16.0M 0s
  4750K .......... .......... .......... .......... .......... 94% 8.09M 0s
  4800K .......... .......... .......... .......... .......... 95% 33.1M 0s
  4850K .......... .......... .......... .......... .......... 96% 28.8M 0s
  4900K .......... .......... .......... .......... .......... 97% 9.23M 0s
  4950K .......... .......... .......... .......... .......... 98% 56.2M 0s
  5000K .......... .......... .......... .......... .......... 99% 18.2M 0s
  5050K .......... .......... .......... .......... .         100% 15.3M=0.6s

Last-modified header missing -- time-stamps turned off.
2017-03-10 13:18:54 (8.83 MB/s) - ‘hp.obo’ saved [5213846/5213846]

FINISHED --2017-03-10 13:18:54--
Total wall clock time: 11s
Downloaded: 5 files, 43M in 3.4s (12.7 MB/s)
java -Xmx1G -jar ../tools/gene2phenotype/createGene2Phenotype.jar --data "data" --out-folder "."
User defined parameters set to:
hpo path: /var/lib/jenkins/jobs/hpo.annotations.monthly/workspace/annotation/data/hp.obo (exists: true)
out path: /var/lib/jenkins/jobs/hpo.annotations.monthly/workspace/annotation/. (exists: true)
 data path: /var/lib/jenkins/jobs/hpo.annotations.monthly/workspace/annotation/data (exists: true)
parse: /var/lib/jenkins/jobs/hpo.annotations.monthly/workspace/annotation/data/hp.obo
Mar 10, 2017 1:18:54 PM ontologizer.go.OBOParser doParse
INFO: Got 12299 terms and 15974 relations in 122 ms
Details of parsed obo file:
  data-version:		releases/2017-03-09
  format:		1.2
  term definitions:	12299
Mar 10, 2017 1:18:54 PM ontologizer.go.Ontology assignLevel1TermsAndFixRoot
INFO: Ontology contains a single level-one term (All (HP:0000001)
Mar 10, 2017 1:18:55 PM ontologizer.go.Ontology assignLevel1TermsAndFixRoot
INFO: Ontology contains a single level-one term (Phenotypic abnormality (HP:0000118)
WARN: Frequency of 3539 terms was zero!!
Set IC of these to : 9.158625936289503
mims:9539 with inh: 6392
parse NCBI
summary of gene_info-file
  other: 861
  tRNA: 599
  rRNA: 39
  scRNA: 4
  protein-coding: 20673
  ncRNA: 18123
  pseudo: 16386
  snRNA: 64
  snoRNA: 541
  unknown: 2472
entrez2symbol size: 40904
there were 1 unidentified gene-IDs: [2439]
diseaseid-to-entrezid: 4403
ORPHANETPARSING: orphadisease2HGNCgenes:3569
ORPHANETPARSING: hgncid2entrez:26770
there were 31 unmappable HGNC-IDs: [3082, 14252, 37475, 21340, 3101, 33472, 30161, 22993, 34382, 22433, 23448, 35416, 31376, 39436, 32944, 17204, 3777, 12599, 26071, 20684, 14260, 33240, 43726, 25855, 8141, 43724, 32314, 33445, 16706, 33485, 13730]
diseaseId2entry.size(): 9539
 omim: 6918
 orphanet: 2574
 others: 47
Disease entries with at least one known disease gene: 5285
Disease entries with at least 1 HPO term(s) (from phenotypic abn.): 9496
generating files for source-filter: OMIM and frequency-filter: FREQUENT_FEATURES
debug disease = hpo.DiseaseEntry@6c99dbca
annotations was null
generating files for source-filter: OMIM and frequency-filter: ALL_FREQUENCIES
debug disease = hpo.DiseaseEntry@6c99dbca
annotations was null
generating files for source-filter: ORPHANET and frequency-filter: FREQUENT_FEATURES
debug disease = hpo.DiseaseEntry@6c99dbca
annotations was null
generating files for source-filter: ORPHANET and frequency-filter: ALL_FREQUENCIES
debug disease = hpo.DiseaseEntry@6c99dbca
annotations was null
generating files for source-filter: ALL_SOURCES and frequency-filter: FREQUENT_FEATURES
debug disease = hpo.DiseaseEntry@6c99dbca
annotations was null
generating files for source-filter: ALL_SOURCES and frequency-filter: ALL_FREQUENCIES
debug disease = hpo.DiseaseEntry@6c99dbca
annotations was null
java -Xmx1G -jar ../tools/hpo_mysqldb/createMysqlHPODbVersion.jar --data "data" --out-folder "." --database-schema "../tools/hpo_mysqldb/schemabackup_2010-06-18.sql"  --mysql-user "hudson_mysql" --mysql-password "hpo_hudson" --mysql-host "localhost" --mysql-port "3306"
loading ontology and annotations
loading: data/hp.obo
parse: data/hp.obo
Mar 10, 2017 1:19:09 PM ontologizer.go.OBOParser doParse
INFO: Got 12299 terms and 15974 relations in 150 ms
Details of parsed obo file:
  data-version:		releases/2017-03-09
  format:		1.2
  term definitions:	12299
Mar 10, 2017 1:19:09 PM ontologizer.go.Ontology assignLevel1TermsAndFixRoot
INFO: Ontology contains a single level-one term (All (HP:0000001)
Mar 10, 2017 1:19:10 PM ontologizer.go.Ontology assignLevel1TermsAndFixRoot
INFO: Ontology contains a single level-one term (Phenotypic abnormality (HP:0000118)
WARN: Frequency of 3539 terms was zero!!
Set IC of these to : 9.158625936289503
mims:9539 with inh: 6392
parse NCBI
summary of gene_info-file
  other: 861
  tRNA: 599
  rRNA: 39
  scRNA: 4
  protein-coding: 20673
  ncRNA: 18123
  pseudo: 16386
  snRNA: 64
  snoRNA: 541
  unknown: 2472
entrez2symbol size: 40904
there were 1 unidentified gene-IDs: [2439]
diseaseid-to-entrezid: 4403
ORPHANETPARSING: orphadisease2HGNCgenes:3569
ORPHANETPARSING: hgncid2entrez:26770
there were 31 unmappable HGNC-IDs: [3082, 14252, 37475, 21340, 3101, 33472, 30161, 22993, 34382, 22433, 23448, 35416, 31376, 39436, 32944, 17204, 3777, 12599, 26071, 20684, 14260, 33240, 43726, 25855, 8141, 43724, 32314, 33445, 16706, 33485, 13730]
diseaseId2entry.size(): 9539
 omim: 6918
 orphanet: 2574
 others: 47
Disease entries with at least one known disease gene: 5285
Disease entries with at least 1 HPO term(s) (from phenotypic abn.): 9496
03_2017
make connection / created db
connecting to jdbc:mysql://localhost:3306/mysql
dropping database: MYHPO_03_2017 (if exists)
creating database: MYHPO_03_2017
create schema (tables, relations)
Execute: [mysql, --user=hudson_mysql, --password=hpo_hudson, --host=localhost, --port=3306, MYHPO_03_2017, -e, source ../tools/hpo_mysqldb/schemabackup_2010-06-18.sql]
Done restore.
insert terms
WARN: invalid external object: 0003795 / MP
WARN: invalid external object: 10.1007/978-0-387-79948-3_2046 / DOI
WARN: invalid external object: 0005291 / MP
WARN: invalid external object: 39462005 / v
WARN: invalid external object: 0005555 / MP
WARN: invalid external object: 0010210 / MP
WARN: invalid external object: 0003009 / MP
WARN: invalid external object: 0008556 / MP
WARN: invalid external object: 0004947 / MP
WARN: invalid external object: 0011478 / MP
WARN: invalid external object: 0008271 / MP
WARN: invalid external object: G44.0 / ICD10
WARN: invalid external object: G44.2 / ICD10
WARN: invalid external object: 3632007 / PMID
WARN: invalid external object: 0001764 / MP
WARN: invalid external object: 0005257 / MP
WARN: invalid external object: 20590416 / pmid
WARN: invalid external object: 16671223 / pmid
WARN: invalid external object: 24618488 / pmid
WARN: invalid external object: 24467750 / pmid
WARN: invalid external object: 24808988 / pmid
WARN: invalid external object: HTrang / UToronto
WARN: invalid external object: 15961866 / pmid
WARN: invalid external object: 17490914 / pmid
WARN: invalid external object: 20643692 / pmid
WARN: invalid external object: 24046799 / pmid
WARN: invalid external object: 24822139 / pmid
WARN: invalid external object: 20573927 / pmid
WARN: invalid external object: 16391543 / pmid
WARN: invalid external object: 10199473 / pmid
WARN: invalid external object: 12089752 / pmid
WARN: invalid external object: 23513084 / pmid
WARN: invalid external object: 22544358 / pmid
WARN: invalid external object: 21712856 / pmid
WARN: invalid external object: 3409932 / pmid
WARN: invalid external object: 18691338 / pmid
WARN: invalid external object: 4058748 / pmid
WARN: invalid external object: 21931493 / pmid
WARN: invalid external object: //emedicine.medscape.com/article/281484-overview / http
WARN: invalid external object: C6438 / NCI
insert graph-path
  allpathes.size() = 191232
insert term2term
Insert annotations:
inserted disease: 187400 OMIM 187400 TESTICULAR TORSION;;TORSION OF TESTICULAR CORD
id in db is: 287549
inserted disease: 191530 OMIM URATE-BINDING GLOBULIN, DECREASE IN
id in db is: 287550
inserted disease: 300652 OMIM ANGIOMA SERPIGINOSUM, X-LINKED
id in db is: 287551
inserted disease: 157640 OMIM PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1
id in db is: 287552
inserted disease: 613723 OMIM #613723 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q; LGMD2Q
id in db is: 287553
inserted disease: 616118 OMIM MACULAR DEGENERATION, EARLY-ONSET; EOMD
id in db is: 287554
inserted disease: 306930 OMIM HEMOPOIETIC PROLIFERATION
id in db is: 287555
inserted disease: 614226 OMIM #614226 HOLOPROSENCEPHALY 11; HPE11
id in db is: 287556
inserted disease: 52022 ORPHA Potocki-Shaffer syndrome
id in db is: 287557
inserted disease: 615615 OMIM #615615 IMMUNODEFICIENCY 18; IMD18;;CD3-EPSILON DEFICIENCYIMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;;IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED
id in db is: 287558
inserted disease: 615264 OMIM #615264 BLOOD GROUP, VEL SYSTEM; VELVEL-NULL PHENOTYPE, INCLUDED
id in db is: 287559
inserted disease: 739 ORPHA Prader-Willi syndrome
id in db is: 287560
inserted disease: 607677 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I
id in db is: 287561
inserted disease: 273150 OMIM TESTES, RUDIMENTARY
id in db is: 287562
inserted disease: 3454 ORPHA Intellectual disability-developmental delay-contractures syndrome
id in db is: 287563
inserted disease: 270220 OMIM 270220 SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT;;ICHTHYOSIS, SJOGREN-LARSSON-LIKE, WITHOUT CNS OR EYE INVOLVEMENT
id in db is: 287564
inserted disease: 309860 OMIM MONOAMINE OXIDASE B
id in db is: 287565
inserted disease: 233400 OMIM #233400 PERRAULT SYNDROME 1; PRLTS1;;OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS;;GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS
id in db is: 287566
inserted disease: 206570 OMIM ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT
id in db is: 287567
inserted disease: 175100 OMIM #175100 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1;;ADENOMATOUS POLYPOSIS OF THE COLON; APC;;FAMILIAL POLYPOSIS OF THE COLON; FPC;;POLYPOSIS, ADENOMATOUS INTESTINALGARDNER SYNDROME, INCLUDED; GS, INCLUDED;;BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED; BTPS2, INCLUDED;;FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED; AFAP, INCLUDED;;ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED; AAPC, INCLUDED
id in db is: 287568
inserted disease: 1278 ORPHA Brachydactyly-preaxial hallux varus syndrome
id in db is: 287569
inserted disease: 882 ORPHA Tyrosinemia type 1
id in db is: 287570
inserted disease: 500 ORPHA Noonan syndrome with multiple lentigines
id in db is: 287571
inserted disease: 253220 OMIM #253220 MUCOPOLYSACCHARIDOSIS TYPE VII;;MPS VII; MPS7;;SLY SYNDROME;;BETA-GLUCURONIDASE DEFICIENCY;;GUSB DEFICIENCY
id in db is: 287572
inserted disease: 603358 OMIM #603358 GRACILE SYNDROME;;GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTICACIDOSIS, AND EARLY DEATH;;FINNISH LETHAL NEONATAL METABOLIC SYNDROME; FLNMS;;LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS;;FELLMAN SYNDROME
id in db is: 287573
inserted disease: 601072 OMIM DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
id in db is: 287574
inserted disease: 615658 OMIM #615658 SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE; SPG57
id in db is: 287575
inserted disease: 604286 OMIM #604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
id in db is: 287576
inserted disease: 610442 OMIM SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
id in db is: 287577
inserted disease: 616586 OMIM SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B
id in db is: 287578
inserted disease: 125520 OMIM CAYLER CARDIOFACIAL SYNDROME
id in db is: 287579
inserted disease: 1667 ORPHA Wolcott-Rallison syndrome
id in db is: 287580
inserted disease: 184095 OMIM #184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE;;SED, MAROTEAUX TYPE;;PSEUDO-MORQUIO SYNDROME, TYPE 2
id in db is: 287581
inserted disease: 256150 OMIM NEPHROSIALIDOSIS
id in db is: 287582
inserted disease: 186830 OMIM CD3 ANTIGEN, EPSILON SUBUNIT
id in db is: 287583
inserted disease: 204100 OMIM LEBER CONGENITAL AMAUROSIS, TYPE II
id in db is: 287584
inserted disease: 231090 OMIM HYDATIDIFORM MOLE
id in db is: 287585
inserted disease: 601466 OMIM PATENT DUCTUS VENOSUS
id in db is: 287586
inserted disease: 179 ORPHA Birdshot chorioretinopathy
id in db is: 287587
inserted disease: 398073 ORPHA Prader-Willi-like syndrome
id in db is: 287588
inserted disease: 52056 ORPHA Ulnar/fibula ray defect-brachydactyly syndrome
id in db is: 287589
inserted disease: 124950 OMIM DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE
id in db is: 287590
inserted disease: 609636 OMIM ALZHEIMER DISEASE 10
id in db is: 287591
inserted disease: 600920 OMIM #600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS;;MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION;;BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES
id in db is: 287592
inserted disease: 601399 OMIM #601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM;;PLATELET DISORDER, ASPIRIN-LIKE;;THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA;FPD/AML
id in db is: 287593
inserted disease: 616720 OMIM #616720 MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19
id in db is: 287594
inserted disease: 100025 ORPHA Alpha-heavy chain disease
id in db is: 287595
inserted disease: 96129 ORPHA Distal monosomy 19p13.3
id in db is: 287596
inserted disease: 611721 OMIM #611721 COMBINED SAPOSIN DEFICIENCY;;PROSAPOSIN DEFICIENCY; PSAPD;;COMBINED SAP DEFICIENCY
id in db is: 287597
inserted disease: 130000 OMIM EHLERS-DANLOS SYNDROME, TYPE I
id in db is: 287598
inserted disease: 252650 OMIM MUCOLIPIDOSIS IV; ML4
id in db is: 287599
inserted disease: 250400 OMIM METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE
id in db is: 287600
inserted disease: 192100 OMIM UVULA, BIFID
id in db is: 287601
inserted disease: 616228 OMIM MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14
id in db is: 287602
inserted disease: 307500 OMIM HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES
id in db is: 287603
inserted disease: 203750 OMIM ALPHA-METHYLACETOACETIC ACIDURIA
id in db is: 287604
inserted disease: 610265 OMIM #610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
id in db is: 287605
inserted disease: 615505 OMIM CILIARY DYSKINESIA, PRIMARY, 28; CILD28
id in db is: 287606
inserted disease: 612444 OMIM #612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9;;CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS
id in db is: 287607
inserted disease: 157788 ORPHA Hypospadias-hypertelorism-coloboma and deafness syndrome
id in db is: 287608
inserted disease: 609242 OMIM #609242 KANZAKI DISEASE;;ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II;;ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, ADULT-ONSET;;NAGA DEFICIENCY, TYPE II;;SCHINDLER DISEASE, TYPE II
id in db is: 287609
inserted disease: 601927 OMIM %601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES;;IRONS-BIANCHI SYNDROME;;LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND CHARACTERISTIC FACIES
id in db is: 287610
inserted disease: 2584 ORPHA Classic mycosis fungoides
id in db is: 287611
inserted disease: 111 ORPHA Barth syndrome
id in db is: 287612
inserted disease: 71289 ORPHA Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
id in db is: 287613
inserted disease: 37 ORPHA Acrodermatitis enteropathica
id in db is: 287614
inserted disease: 705 ORPHA Pendred syndrome
id in db is: 287615
inserted disease: 187510 OMIM TETRAMELIC MONODACTYLY
id in db is: 287616
inserted disease: 191420 OMIM ULNA METAPHYSEAL DYSPLASIA SYNDROME
id in db is: 287617
inserted disease: 3283 ORPHA His bundle tachycardia
id in db is: 287618
inserted disease: 568 ORPHA Microphthalmia, Lenz type
id in db is: 287619
inserted disease: 154600 OMIM MARCUS GUNN PHENOMENON
id in db is: 287620
inserted disease: 615548 OMIM #615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7;;HSAN VII;;INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTIONAND HYPERHIDROSIS
id in db is: 287621
inserted disease: 616192 OMIM ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD
id in db is: 287622
inserted disease: 50 ORPHA Aicardi syndrome
id in db is: 287623
inserted disease: 79324 ORPHA ALG12-CDG
id in db is: 287624
inserted disease: 614651 OMIM #614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2
id in db is: 287625
inserted disease: 219550 OMIM CYSTEINE PEPTIDURIA
id in db is: 287626
inserted disease: 614379 OMIM #614379 COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD ;;C4B DEFICIENCY
id in db is: 287627
inserted disease: 600208 OMIM #600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
id in db is: 287628
inserted disease: 615438 OMIM #615438 INFANTILE LIVER FAILURE SYNDROME 1; ILFS1
id in db is: 287629
inserted disease: 96176 ORPHA Ring chromosome 13
id in db is: 287630
inserted disease: 177350 OMIM PSEUDOATROPHODERMA COLLI
id in db is: 287631
inserted disease: 125300 OMIM 125300 DENS IN DENTE AND PALATAL INVAGINATIONS
id in db is: 287632
inserted disease: 247950 OMIM LYSINE MALABSORPTION SYNDROME
id in db is: 287633
inserted disease: 611590 OMIM #611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA;;RTA, DISTAL, AUTOSOMAL RECESSIVE, WITH HEMOLYTIC ANEMIARENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED
id in db is: 287634
inserted disease: 613546 OMIM AROMATASE DEFICIENCY
id in db is: 287635
inserted disease: 397 ORPHA Giant cell arteritis
id in db is: 287636
inserted disease: 249310 OMIM MEGALOCORNEA-MENTAL RETARDATION SYNDROME
id in db is: 287637
inserted disease: 3236 ORPHA Conductive deafness-ptosis-skeletal anomalies syndrome
id in db is: 287638
inserted disease: 664 ORPHA Ornithine transcarbamylase deficiency
id in db is: 287639
inserted disease: 606071 OMIM HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
id in db is: 287640
inserted disease: 113000 OMIM #113000 BRACHYDACTYLY, TYPE B1; BDB1;;BRACHYDACTYLY, TYPE B; BDB
id in db is: 287641
inserted disease: 602079 OMIM TRIMETHYLAMINURIA
id in db is: 287642
inserted disease: 256040 OMIM #256040 AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD;;NAKAJO-NISHIMURA SYNDROME; NKJO;;JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCEDLIPODYSTROPHY; JMP SYNDROME;;CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATEDTEMPERATURE SYNDROME; CANDLE
id in db is: 287643
inserted disease: 615374 OMIM #615374 CONE-ROD DYSTROPHY 18; CORD18
id in db is: 287644
inserted disease: 218650 OMIM CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME
id in db is: 287645
inserted disease: 616433 OMIM IMMUNODEFICIENCY 40; IMD40
id in db is: 287646
inserted disease: 608027 OMIM #608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY
id in db is: 287647
inserted disease: 614052 OMIM #614052 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2;MC5DN2;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE;;ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASEDEFICIENCY
id in db is: 287648
inserted disease: 610017 OMIM #610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2
id in db is: 287649
inserted disease: 173850 OMIM POLIOVIRUS RECEPTOR
id in db is: 287650
inserted disease: 614541 OMIM CHROMOSOME 16q22 DELETION SYNDROME
id in db is: 287651
inserted disease: 2680 ORPHA Hypomyelination neuropathy-arthrogryposis syndrome
id in db is: 287652
inserted disease: 608030 OMIM #608030 AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS6AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE, INCLUDED
id in db is: 287653
inserted disease: 493 ORPHA Familial keratoacanthoma
id in db is: 287654
inserted disease: 786 ORPHA Glucocorticoid resistance
id in db is: 287655
inserted disease: 612582 OMIM #612582 CHROMOSOME 6pter-p24 DELETION SYNDROME
id in db is: 287656
inserted disease: 300475 OMIM DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH
id in db is: 287657
inserted disease: 192 ORPHA Coffin-Lowry syndrome
id in db is: 287658
inserted disease: 79106 ORPHA Eiken syndrome
id in db is: 287659
inserted disease: 309545 OMIM %309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12
id in db is: 287660
inserted disease: 609285 OMIM NEMALINE MYOPATHY 4; NEM4
id in db is: 287661
inserted disease: 614116 OMIM #614116 NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E;;HSN IE;;NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
id in db is: 287662
inserted disease: 311300 OMIM #311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1;;OPD I SYNDROME;;OPD SYNDROME 1OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED;;FRONTOOTOPALATODIGITAL OSTEODYSPLASIA, INCLUDED
id in db is: 287663
inserted disease: 253000 OMIM #253000 MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A;;MORQUIO SYNDROME A;;MPS IVA;;MORQUIO A DISEASE;;GALACTOSAMINE-6-SULFATASE DEFICIENCY;;GALNS DEFICIENCY
id in db is: 287664
inserted disease: 611544 OMIM #611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3
id in db is: 287665
inserted disease: 79283 ORPHA Methylmalonic acidemia with homocystinuria, type cblD
id in db is: 287666
inserted disease: 235555 OMIM BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
id in db is: 287667
inserted disease: 600101 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2
id in db is: 287668
inserted disease: 261272 ORPHA 17q12 microduplication syndrome
id in db is: 287669
inserted disease: 869 ORPHA Triple A syndrome
id in db is: 287670
inserted disease: 200600 OMIM #200600 ACHONDROGENESIS, TYPE IA; ACG1A;;ACHONDROGENESIS, HOUSTON-HARRIS TYPE
id in db is: 287671
inserted disease: 516030 OMIM COMPLEX IV, CYTOCHROME C OXIDASE SUBUNIT I
id in db is: 287672
inserted disease: 115470 OMIM #115470 CAT EYE SYNDROME; CES;;SCHMID-FRACCARO SYNDROME;;CHROMOSOME 22 PARTIAL TETRASOMY;;INV DUP(22)(q11)
id in db is: 287673
inserted disease: 615328 OMIM #615328 SHAHEEN SYNDROME; SHNS
id in db is: 287674
inserted disease: 79099 ORPHA Interstitial granulomatous dermatitis with arthritis
id in db is: 287675
inserted disease: 93404 ORPHA Syndactyly type 3
id in db is: 287676
inserted disease: 121201 OMIM EPILEPSY, BENIGN NEONATAL, 2
id in db is: 287677
inserted disease: 2031 ORPHA Hepatic fibrosis-renal cysts-intellectual disability syndrome
id in db is: 287678
inserted disease: 612160 OMIM #612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS
id in db is: 287679
inserted disease: 53697 ORPHA Gnathodiaphyseal dysplasia
id in db is: 287680
inserted disease: 215720 OMIM CITRULLINE TRANSPORT DEFECT
id in db is: 287681
inserted disease: 216400 OMIM COCKAYNE SYNDROME A; CSA
id in db is: 287682
inserted disease: 609813 OMIM #609813 SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3
id in db is: 287683
inserted disease: 612692 OMIM #612692 AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT
id in db is: 287684
inserted disease: 112430 OMIM BRACHYDACTYLY, LONG-THUMB TYPE
id in db is: 287685
inserted disease: 158100 OMIM MONOPHALANGY OF GREAT TOE
id in db is: 287686
inserted disease: 235760 OMIM HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIALFEATURES
id in db is: 287687
inserted disease: 601356 OMIM %601356 LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE
id in db is: 287688
inserted disease: 404 ORPHA Familial hyperaldosteronism type II
id in db is: 287689
inserted disease: 607921 OMIM #607921 RETINITIS PIGMENTOSA 30; RP30
id in db is: 287690
inserted disease: 84 ORPHA Fanconi anemia
id in db is: 287691
inserted disease: 250620 OMIM 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD
id in db is: 287692
inserted disease: 603563 OMIM #603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8
id in db is: 287693
inserted disease: 300322 OMIM LESCH-NYHAN SYNDROME
id in db is: 287694
inserted disease: 2885 ORPHA Piebald trait-neurologic defects syndrome
id in db is: 287695
inserted disease: 160980 OMIM CARNEY COMPLEX, TYPE 1; CNC1
id in db is: 287696
inserted disease: 262700 OMIM PITUITARY DWARFISM WITH SMALL SELLA TURCICA
id in db is: 287697
inserted disease: 2291 ORPHA Congenital velopharyngeal incompetence
id in db is: 287698
inserted disease: 176780 OMIM PELVIC ORGAN PROLAPSE
id in db is: 287699
inserted disease: 610127 OMIM #610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10;;CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT;;NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCYNEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED
id in db is: 287700
inserted disease: 128230 OMIM DYSTONIA, DOPA-RESPONSIVE; DRD
id in db is: 287701
inserted disease: 86822 ORPHA Lissencephaly type 3-metacarpal bone dysplasia syndrome
id in db is: 287702
inserted disease: 212060 OMIM CARBIMAZOLE SENSITIVITY
id in db is: 287703
inserted disease: 217300 OMIM #217300 CORNEA PLANA 2; CNA2
id in db is: 287704
inserted disease: 88643 ORPHA Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
id in db is: 287705
inserted disease: 278720 OMIM #278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC;;XPCC;;XP, GROUP C;;XERODERMA PIGMENTOSUM III; XP3
id in db is: 287706
inserted disease: 169610 OMIM PEMPHIGUS VULGARIS, FAMILIAL
id in db is: 287707
inserted disease: 176670 OMIM HUTCHINSON-GILFORD PROGERIA SYNDROME
id in db is: 287708
inserted disease: 67 DECIPHER 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)
id in db is: 287709
inserted disease: 88635 ORPHA Myopathy due to calsequestrin and SERCA1 protein overload
id in db is: 287710
inserted disease: 163596 ORPHA Hb Bart's hydrops fetalis
id in db is: 287711
inserted disease: 184800 OMIM 184800 STERNUM, PREMATURE OBLITERATION OF SUTURES OF
id in db is: 287712
inserted disease: 603688 OMIM #603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY;;PCBC;;CAPB
id in db is: 287713
inserted disease: 607078 OMIM EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
id in db is: 287714
inserted disease: 616515 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 104; DFNB104
id in db is: 287715
inserted disease: 60040 ORPHA Megalencephaly-capillary malformation-polymicrogyria syndrome
id in db is: 287716
inserted disease: 191200 OMIM TUNE DEAFNESS
id in db is: 287717
inserted disease: 609923 OMIM #609923 RETINITIS PIGMENTOSA 31; RP31
id in db is: 287718
inserted disease: 609037 OMIM MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE
id in db is: 287719
inserted disease: 614162 OMIM IMMUNODEFICIENCY 31C; IMD31C
id in db is: 287720
inserted disease: 308960 OMIM LEUKEMIA, ACUTE, ?X-LINKED
id in db is: 287721
inserted disease: 1926 ORPHA Diabetic embryopathy
id in db is: 287722
inserted disease: 243060 OMIM MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA
id in db is: 287723
inserted disease: 614431 OMIM #614431 VENTRICULAR SEPTAL DEFECT 2; VSD2
id in db is: 287724
inserted disease: 174200 OMIM POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1
id in db is: 287725
inserted disease: 248300 OMIM MAL DE MELEDA
id in db is: 287726
inserted disease: 312420 OMIM RENIN-BINDING PROTEIN
id in db is: 287727
inserted disease: 90153 ORPHA Mandibuloacral dysplasia with type A lipodystrophy
id in db is: 287728
inserted disease: 300514 OMIM #300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB;;FACB;;FANCONI PANCYTOPENIA, TYPE 2; FA2
id in db is: 287729
inserted disease: 615945 OMIM SPINOCEREBELLAR ATAXIA 37; SCA37
id in db is: 287730
inserted disease: 186500 OMIM #186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1;;SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY;;SYMPHALANGISM-BRACHYDACTYLY SYNDROME;;WL SYNDROME;;DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN;;FACIOAUDIOSYMPHALANGISM SYNDROME
id in db is: 287731
inserted disease: 605253 OMIM NEUROPATHY, CONGENITAL HYPOMYELINATING
id in db is: 287732
inserted disease: 258900 OMIM #258900 OROTIC ACIDURIA;;OROTIC ACIDURIA I;;OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;;OPRT AND ODC DEFICIENCY;;OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;;URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY;;UMP SYNTHASE DEFICIENCY;;UMPS DEFICIENCYOROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA, INCLUDED; OAWA, INCLUDED
id in db is: 287733
inserted disease: 2065 ORPHA Galloway-Mowat syndrome
id in db is: 287734
inserted disease: 270685 OMIM #270685 SPASTIC PARAPLEGIA 17; SPG17;;SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET;;SILVER SYNDROME;;SILVER SPASTIC PARAPLEGIA SYNDROME
id in db is: 287735
inserted disease: 612004 OMIM #612004 THROMBOCYTOPENIA 4; THC4;;THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
id in db is: 287736
inserted disease: 613124 OMIM HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES
id in db is: 287737
inserted disease: 1366 ORPHA Autosomal recessive palmoplantar keratoderma and congenital alopecia
id in db is: 287738
inserted disease: 1545 ORPHA Crisponi syndrome
id in db is: 287739
inserted disease: 85174 ORPHA Pseudodiastrophic dysplasia
id in db is: 287740
inserted disease: 157151 OMIM MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA
id in db is: 287741
inserted disease: 150260 OMIM LARYNGEAL ABDUCTOR PARALYSIS
id in db is: 287742
inserted disease: 219000 OMIM #219000 FRASER SYNDROME;;CRYPTOPHTHALMOS WITH OTHER MALFORMATIONSCRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED
id in db is: 287743
inserted disease: 612933 OMIM GLYCOGEN STORAGE DISEASE XI; GSD11
id in db is: 287744
inserted disease: 615988 OMIM BARDET-BIEDL SYNDROME 11; BBS11
id in db is: 287745
inserted disease: 601561 OMIM DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA
id in db is: 287746
inserted disease: 604307 OMIM #604307 CATARACT 2, MULTIPLE TYPES; CTRCT2;;CATARACT 2, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;;CATARACT, COPPOCK-LIKE; CCL
id in db is: 287747
inserted disease: 125850 OMIM MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I
id in db is: 287748
inserted disease: 601820 OMIM HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2
id in db is: 287749
inserted disease: 172500 OMIM 172500 PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRALDYSFUNCTION;;HERRMANN SYNDROME
id in db is: 287750
inserted disease: 249420 OMIM FRANK-TER HAAR SYNDROME; FTHS
id in db is: 287751
inserted disease: 611040 OMIM #611040 MICROPHTHALMIA, ISOLATED 5; MCOP5;;MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS,AND OPTIC DISC DRUSEN
id in db is: 287752
inserted disease: 616299 OMIM LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D
id in db is: 287753
inserted disease: 614474 OMIM #614474 ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5
id in db is: 287754
inserted disease: 157200 OMIM MIDPHALANGEAL HAIR
id in db is: 287755
inserted disease: 612948 OMIM 612948 STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES
id in db is: 287756
inserted disease: 277600 OMIM WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
id in db is: 287757
inserted disease: 613986 OMIM #613986 PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6
id in db is: 287758
inserted disease: 193670 OMIM WHIM SYNDROME
id in db is: 287759
inserted disease: 609129 OMIM AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
id in db is: 287760
inserted disease: 615710 OMIM #615710 MITCHELL-RILEY SYNDROME; MTCHRS;;DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,AND GALLBLADDER APLASIA OR HYPOPLASIA
id in db is: 287761
inserted disease: 143200 OMIM #143200 WAGNER VITREORETINOPATHY; WGVRP;;EROSIVE VITREORETINOPATHY; ERVR;;WAGNER VITREORETINAL DEGENERATION;;HYALOIDEORETINAL DEGENERATION OF WAGNER;;WAGNER SYNDROME 1; WGN1
id in db is: 287762
inserted disease: 265850 OMIM PYGMY
id in db is: 287763
inserted disease: 221320 OMIM DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES
id in db is: 287764
inserted disease: 93111 ORPHA Renal cysts and diabetes syndrome
id in db is: 287765
inserted disease: 167800 OMIM PANCREATITIS, HEREDITARY
id in db is: 287766
inserted disease: 606685 OMIM #606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L
id in db is: 287767
inserted disease: 2114 ORPHA Hip dysplasia, Beukes type
id in db is: 287768
inserted disease: 827 ORPHA Stargardt disease
id in db is: 287769
inserted disease: 970 ORPHA Hereditary sensory and autonomic neuropathy type 2
id in db is: 287770
inserted disease: 241 ORPHA Dyschromatosis universalis
id in db is: 287771
inserted disease: 613943 OMIM #613943 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8;;LAMELLAR ICHTHYOSIS, LATE-ONSET;;ICHTHYOSIS, LAMELLAR, 4, FORMERLY; LI4, FORMERLY
id in db is: 287772
inserted disease: 161550 OMIM NASOPHARYNGEAL CARCINOMA
id in db is: 287773
inserted disease: 600807 OMIM ASTHMA, SUSCEPTIBILITY TO
id in db is: 287774
inserted disease: 2454 ORPHA Familial intestinal malrotation-facial anomalies syndrome
id in db is: 287775
inserted disease: 57782 ORPHA Mazabraud syndrome
id in db is: 287776
inserted disease: 581 ORPHA Mucopolysaccharidosis type 3
id in db is: 287777
inserted disease: 609621 OMIM #609621 SHORT QT SYNDROME 2; SQT2
id in db is: 287778
inserted disease: 178509 ORPHA Perry syndrome
id in db is: 287779
inserted disease: 307830 OMIM HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION
id in db is: 287780
inserted disease: 601001 OMIM #601001 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
id in db is: 287781
inserted disease: 1885 ORPHA Isolated ectopia lentis
id in db is: 287782
inserted disease: 1900 ORPHA Ehlers-Danlos syndrome, kyphoscoliotic type
id in db is: 287783
inserted disease: 216950 OMIM COMPLEMENT COMPONENT C1R DEFICIENCY
id in db is: 287784
inserted disease: 115250 OMIM 115250 COLLAGENOMA, FAMILIAL CUTANEOUS
id in db is: 287785
inserted disease: 263600 OMIM POLYSACCHARIDE, STORAGE OF UNUSUAL
id in db is: 287786
inserted disease: 236000 OMIM #236000 LYMPHOMA, HODGKIN;;HODGKIN DISEASE
id in db is: 287787
inserted disease: 89936 ORPHA X-linked hypophosphatemia
id in db is: 287788
inserted disease: 612731 OMIM %612731 FACIOCARDIOMELIC SYNDROME
id in db is: 287789
inserted disease: 605388 OMIM CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE
id in db is: 287790
inserted disease: 616500 OMIM CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3; CEMCOX3
id in db is: 287791
inserted disease: 615973 OMIM CONE-ROD DYSTROPHY 20; CORD20
id in db is: 287792
inserted disease: 109200 OMIM ALOPECIA, ANDROGENETIC, 1
id in db is: 287793
inserted disease: 158320 OMIM #158320 MUIR-TORRE SYNDROME; MRTES;;CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITHGASTROINTESTINAL AND OTHER CARCINOMAS
id in db is: 287794
inserted disease: 603471 OMIM #603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2;;CITRIN DEFICIENCY
id in db is: 287795
inserted disease: 614935 OMIM #614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19;;CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
id in db is: 287796
inserted disease: 104290 OMIM #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1
id in db is: 287797
inserted disease: 616079 OMIM RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES; RDGCA
id in db is: 287798
inserted disease: 601438 OMIM RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE
id in db is: 287799
inserted disease: 602433 OMIM #602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4;;NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES
id in db is: 287800
inserted disease: 615768 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16
id in db is: 287801
inserted disease: 92 ORPHA Juvenile idiopathic arthritis
id in db is: 287802
inserted disease: 45 DECIPHER Xq28 (MECP2) duplication
id in db is: 287803
inserted disease: 63455 ORPHA Paraneoplastic pemphigus
id in db is: 287804
inserted disease: 1496 ORPHA Corpus callosum agenesis-neuronopathy syndrome
id in db is: 287805
inserted disease: 3023 ORPHA External auditory canal atresia-vertical talus-hypertelorism syndrome
id in db is: 287806
inserted disease: 125630 OMIM DERMODISTORTIVE URTICARIA
id in db is: 287807
inserted disease: 135290 OMIM DESMOID DISEASE, HEREDITARY
id in db is: 287808
inserted disease: 293807 ORPHA Ketamine-induced biliary dilatation
id in db is: 287809
inserted disease: 203655 OMIM #203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC;;ATRICHIA, GENERALIZED
id in db is: 287810
inserted disease: 204650 OMIM AMELOGENESIS IMPERFECTA, TYPE IC
id in db is: 287811
inserted disease: 752 ORPHA 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
id in db is: 287812
inserted disease: 142630 OMIM HISTIOCYTOSIS, PROGRESSIVE MUCINOUS
id in db is: 287813
inserted disease: 608219 OMIM DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38
id in db is: 287814
inserted disease: 300337 OMIM #300337 HYPOMELANOSIS OF ITO; HMI;;INCONTINENTIA PIGMENTI ACHROMIANS; IPA;;ITO HYPOMELANOSIS; ITO;;INCONTINENTIA PIGMENTI, TYPE I, FORMERLY; IP1, FORMERLY
id in db is: 287815
inserted disease: 604381 OMIM 604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES
id in db is: 287816
inserted disease: 121800 OMIM CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
id in db is: 287817
inserted disease: 126200 OMIM MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO
id in db is: 287818
inserted disease: 616341 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30
id in db is: 287819
inserted disease: 168593 ORPHA Sudden infant death-dysgenesis of the testes syndrome
id in db is: 287820
inserted disease: 138500 OMIM GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS
id in db is: 287821
inserted disease: 193450 OMIM VULVOVAGINITIS, ALLERGIC SEMINAL
id in db is: 287822
inserted disease: 614049 OMIM #614049 ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11
id in db is: 287823
inserted disease: 157850 ORPHA Pantothenate kinase-associated neurodegeneration
id in db is: 287824
inserted disease: 610687 OMIM #610687 NEMALINE MYOPATHY 7; NEM7
id in db is: 287825
inserted disease: 611938 OMIM #611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2;;VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP
id in db is: 287826
inserted disease: 609257 OMIM %609257 MYOPIA 8; MYP8
id in db is: 287827
inserted disease: 613387 OMIM %613387 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2; NAFLD2
id in db is: 287828
inserted disease: 316 ORPHA Progressive symmetric erythrokeratodermia
id in db is: 287829
inserted disease: 613216 OMIM #613216 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C;;CSNB, COMPLETE, AUTOSOMAL RECESSIVE
id in db is: 287830
inserted disease: 614211 OMIM %614211 DEAFNESS, AUTOSOMAL DOMINANT 33; DFNA33
id in db is: 287831
inserted disease: 312200 OMIM RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER
id in db is: 287832
inserted disease: 485 ORPHA Kniest dysplasia
id in db is: 287833
inserted disease: 615725 OMIM #615725 RETINITIS PIGMENTOSA 68; RP68
id in db is: 287834
inserted disease: 265300 OMIM %265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL;;LYMPHANGIOMATOSIS, PULMONARY;;PULMONARY CYSTIC LYMPHANGIECTASIS
id in db is: 287835
inserted disease: 3099 ORPHA Rheumatic fever
id in db is: 287836
inserted disease: 3366 ORPHA Isolated trigonocephaly
id in db is: 287837
inserted disease: 275900 OMIM #275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20;;TROYER SYNDROME;;SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE
id in db is: 287838
inserted disease: 615346 OMIM #615346 PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2
id in db is: 287839
inserted disease: 79358 ORPHA Porokeratosis
id in db is: 287840
inserted disease: 250950 OMIM #250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1;;MGA, TYPE I; MGA1;;3-@METHYLGLUTACONYL-COA HYDRATASE DEFICIENCY;;3-@MG-COA-HYDRATASE DEFICIENCY
id in db is: 287841
inserted disease: 601341 OMIM ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL
id in db is: 287842
inserted disease: 614080 OMIM #614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
id in db is: 287843
inserted disease: 614254 OMIM #614254 MENTAL RETARDATION, AUTOSOMAL DOMINANT 8; MRD8
id in db is: 287844
inserted disease: 75374 ORPHA Bradyopsia
id in db is: 287845
inserted disease: 86814 ORPHA Benign adult familial myoclonic epilepsy
id in db is: 287846
inserted disease: 1319 ORPHA Camptobrachydactyly
id in db is: 287847
inserted disease: 412 ORPHA Hyperlipoproteinemia type 3
id in db is: 287848
inserted disease: 217520 OMIM 217520 CORNEAL DEGENERATION, BAND-SHAPED SPHEROID
id in db is: 287849
inserted disease: 534 ORPHA Oculocerebrorenal syndrome of Lowe
id in db is: 287850
inserted disease: 300716 OMIM #300716 MENTAL RETARDATION, X-LINKED 95; MRX95
id in db is: 287851
inserted disease: 606217 OMIM ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2
id in db is: 287852
inserted disease: 801 ORPHA Scleroderma
id in db is: 287853
inserted disease: 176450 OMIM #176450 CURRARINO SYNDROME;;CURRARINO TRIADSACRAL AGENESIS SYNDROME, INCLUDED;;SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE,AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED;;SCRA1, INCLUDED
id in db is: 287854
inserted disease: 309530 OMIM MENTAL RETARDATION, X-LINKED 1
id in db is: 287855
inserted disease: 131460 OMIM EPIBLEPHARON OF UPPER LID
id in db is: 287856
inserted disease: 7 ORPHA 3C syndrome
id in db is: 287857
inserted disease: 223350 OMIM DOHLE BODIES AND LEUKEMIA
id in db is: 287858
inserted disease: 155500 OMIM MEGALODACTYLY
id in db is: 287859
inserted disease: 229600 OMIM #229600 FRUCTOSE INTOLERANCE, HEREDITARY;;FRUCTOSEMIA;;FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY;;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY;;ALDOLASE B DEFICIENCY;;ALDOB DEFICIENCY
id in db is: 287860
inserted disease: 243185 OMIM NATAL TEETH - INTESTINAL PSEUDOOBSTRUCTION - PATENT DUCTUS
id in db is: 287861
inserted disease: 615551 OMIM #615551 EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2
id in db is: 287862
inserted disease: 607634 OMIM OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1
id in db is: 287863
inserted disease: 999 ORPHA Ermine phenotype
id in db is: 287864
inserted disease: 614034 OMIM #614034 HEME OXYGENASE 1 DEFICIENCY; HMOX1D
id in db is: 287865
inserted disease: 607091 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID
id in db is: 287866
inserted disease: 3319 ORPHA Congenital amegakaryocytic thrombocytopenia
id in db is: 287867
inserted disease: 612132 OMIM #612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT
id in db is: 287868
inserted disease: 615817 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43
id in db is: 287869
inserted disease: 300844 OMIM #300844 MENTAL RETARDATION, X-LINKED 19; MRX19
id in db is: 287870
inserted disease: 206484 ORPHA Ovarian gonadoblastoma
id in db is: 287871
inserted disease: 185700 OMIM SYMPHALANGISM, DISTAL
id in db is: 287872
inserted disease: 221770 OMIM POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
id in db is: 287873
inserted disease: 190300 OMIM TREMOR, HEREDITARY ESSENTIAL, 1
id in db is: 287874
inserted disease: 103900 OMIM GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
id in db is: 287875
inserted disease: 614963 OMIM #614963 LEPTIN RECEPTOR DEFICIENCY;;OBESITY, MORBID, NONSYNDROMIC 2
id in db is: 287876
inserted disease: 221760 OMIM DERMATOGLYPHICS--PALMAR TRIRADIUS D, ABSENCE OF
id in db is: 287877
inserted disease: 615072 OMIM BRACHYDACTYLY, TYPE A1, C; BDA1C
id in db is: 287878
inserted disease: 615413 OMIM #615413 SPERMATOGENIC FAILURE 12; SPGF12
id in db is: 287879
inserted disease: 890 ORPHA Hepatic veno-occlusive disease
id in db is: 287880
inserted disease: 614896 OMIM #614896 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD
id in db is: 287881
inserted disease: 161100 OMIM NAILBEDS, PIGMENTATION OF
id in db is: 287882
inserted disease: 1065 ORPHA Aniridia-cerebellar ataxia-intellectual disability syndrome
id in db is: 287883
inserted disease: 609040 OMIM ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
id in db is: 287884
inserted disease: 99824 ORPHA Lassa fever
id in db is: 287885
inserted disease: 189100 OMIM TOE, MISSHAPEN
id in db is: 287886
inserted disease: 252100 OMIM %252100 MOHR SYNDROME;;OROFACIODIGITAL SYNDROME II; OFD2;;OFDS II;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE II
id in db is: 287887
inserted disease: 1812 ORPHA Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
id in db is: 287888
inserted disease: 1659 ORPHA Dermatoleukodystrophy
id in db is: 287889
inserted disease: 21 DECIPHER Miller-Dieker syndrome (MDS)
id in db is: 287890
inserted disease: 607432 OMIM LISSENCEPHALY 1; LIS1
id in db is: 287891
inserted disease: 612526 OMIM #612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3;;BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3; BSCL3;;LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3
id in db is: 287892
inserted disease: 218100 OMIM CRANIAL NERVES, CONGENITAL PARESIS OF
id in db is: 287893
inserted disease: 613454 OMIM RETT SYNDROME, CONGENITAL VARIANT
id in db is: 287894
inserted disease: 607552 OMIM 607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS;;MULTICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS;;MULTIMINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS
id in db is: 287895
inserted disease: 607903 OMIM #607903 HYPOTRICHOSIS 6; HYPT6;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;;HTL
id in db is: 287896
inserted disease: 615991 OMIM BARDET-BIEDL SYNDROME 14; BBS14
id in db is: 287897
inserted disease: 600116 OMIM #600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2;;PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ;;PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION; EPDF
id in db is: 287898
inserted disease: 610140 OMIM #610140 HEART-HAND SYNDROME, SLOVENIAN TYPE
id in db is: 287899
inserted disease: 173400 OMIM 173400 PLATELET AGGREGATION, SPONTANEOUS
id in db is: 287900
inserted disease: 310400 OMIM #310400 MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX;;MYOTUBULAR MYOPATHY, X-LINKED; MTMX; XLMTM;;MYOTUBULAR MYOPATHY 1; MTM1
id in db is: 287901
inserted disease: 1236 ORPHA Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
id in db is: 287902
inserted disease: 613925 OMIM #613925 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A
id in db is: 287903
inserted disease: 616394 OMIM RETINITIS PIGMENTOSA 71; RP71
id in db is: 287904
inserted disease: 610293 OMIM #610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY;;GPI DEFICIENCY
id in db is: 287905
inserted disease: 1420 ORPHA Lethal chondrodysplasia, Moerman type
id in db is: 287906
inserted disease: 140600 OMIM OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS
id in db is: 287907
inserted disease: 610283 OMIM #610283 CONE-ROD DYSTROPHY 10; CORD10
id in db is: 287908
inserted disease: 237450 OMIM HYPERBILIRUBINEMIA, ROTOR TYPE
id in db is: 287909
inserted disease: 105835 OMIM ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA
id in db is: 287910
inserted disease: 601331 OMIM RENAL DYSPLASIA, DIFFUSE CYSTIC
id in db is: 287911
inserted disease: 178029 ORPHA Central diabetes insipidus
id in db is: 287912
inserted disease: 235200 OMIM #235200 HEMOCHROMATOSIS; HFE;;HLAH;;HEMOCHROMATOSIS, HEREDITARY; HH
id in db is: 287913
inserted disease: 612416 OMIM #612416 FACTOR XI DEFICIENCY;;F11 DEFICIENCY;;PLASMA THROMBOPLASTIN ANTECEDENT DEFICIENCY;;PTA DEFICIENCY;;ROSENTHAL SYNDROME
id in db is: 287914
inserted disease: 601154 OMIM CARDIOMYOPATHY, DILATED, 1E; CMD1E
id in db is: 287915
inserted disease: 612359 OMIM #612359 COWDEN-LIKE SYNDROME
id in db is: 287916
inserted disease: 1488 ORPHA Cooper-Jabs syndrome
id in db is: 287917
inserted disease: 178377 ORPHA Osteosclerosis-developmental delay-craniosynostosis syndrome
id in db is: 287918
inserted disease: 2576 ORPHA MULIBREY nanism
id in db is: 287919
inserted disease: 306955 OMIM HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1
id in db is: 287920
inserted disease: 608470 OMIM #608470 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1;;CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; CDRB;;REIS-BUCKLERS CORNEAL DYSTROPHY; RBCD;;CORNEAL DYSTROPHY, GEOGRAPHIC;;GRANULAR CORNEAL DYSTROPHY, TYPE III
id in db is: 287921
inserted disease: 606053 OMIM AUTISM, SUSCEPTIBILITY TO, 5
id in db is: 287922
inserted disease: 214700 OMIM #214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1;;CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE;;CHLORIDORRHEA, CONGENITAL
id in db is: 287923
inserted disease: 274270 OMIM #274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY;;DPD DEFICIENCY;;DPYD DEFICIENCY;;THYMINE-URACILURIA, HEREDITARY;;PYRIMIDINEMIA, FAMILIAL5-@FLUOROURACIL TOXICITY, INCLUDED
id in db is: 287924
inserted disease: 611147 OMIM PAROXYSMAL NONKINESIGENIC DYSKINESIA 2
id in db is: 287925
inserted disease: 79319 ORPHA MPI-CDG
id in db is: 287926
inserted disease: 168600 OMIM PARKINSON DISEASE, LATE-ONSET; PD
id in db is: 287927
inserted disease: 616451 OMIM SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74
id in db is: 287928
inserted disease: 96264 ORPHA 49,XXXXY syndrome
id in db is: 287929
inserted disease: 840 ORPHA Syringocystadenoma papilliferum
id in db is: 287930
inserted disease: 545000 OMIM MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
id in db is: 287931
inserted disease: 42775 ORPHA PHACE syndrome
id in db is: 287932
inserted disease: 225040 OMIM 225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESISOF THE CORPUS CALLOSUM
id in db is: 287933
inserted disease: 529 ORPHA Roch-Leri mesosomatous lipomatosis
id in db is: 287934
inserted disease: 612703 OMIM #612703 MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7
id in db is: 287935
inserted disease: 2156 ORPHA Hirsutism-skeletal dysplasia-intellectual disability syndrome
id in db is: 287936
inserted disease: 965 ORPHA Acromegaloid facial appearance syndrome
id in db is: 287937
inserted disease: 250850 OMIM #250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY;;MAT DEFICIENCY;;MAT I/III DEFICIENCY;;HYPERMETHIONINEMIA, ISOLATED PERSISTENT
id in db is: 287938
inserted disease: 614201 OMIM #614201 BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11;;GLYCOPROTEIN VI DEFICIENCY;;GP VI DEFICIENCY
id in db is: 287939
inserted disease: 209900 OMIM #209900 BARDET-BIEDL SYNDROME 1; BBS1
id in db is: 287940
inserted disease: 613684 OMIM RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
id in db is: 287941
inserted disease: 158022 ORPHA Progressive nodular histiocytosis
id in db is: 287942
inserted disease: 371 ORPHA Glycogen storage disease due to muscle phosphofructokinase deficiency
id in db is: 287943
inserted disease: 602082 OMIM CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II
id in db is: 287944
inserted disease: 44 DECIPHER 2q37 monosomy
id in db is: 287945
inserted disease: 600881 OMIM #600881 CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS
id in db is: 287946
inserted disease: 106600 OMIM TOOTH AGENESIS, SELECTIVE, 1
id in db is: 287947
inserted disease: 155720 OMIM MELANOMA, UVEAL
id in db is: 287948
inserted disease: 612713 OMIM #612713 KAHRIZI SYNDROME; KHRZ;;MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
id in db is: 287949
inserted disease: 156620 OMIM 156620 MICROCEPHALY-DEAFNESS SYNDROME
id in db is: 287950
inserted disease: 400044 OMIM #400044 46,XY SEX REVERSAL 1; SRXY1;;46,XY SEX REVERSAL, SRY-RELATED;;46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED46,XY TRUE HERMAPHRODITISM, SRY-RELATED, INCLUDED;;TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY, INCLUDED; TDFX,FORMERLY, INCLUDED;;SEX-REVERSING LOCUS ON X, FORMERLY, INCLUDED; SRVX, FORMERLY, INCLUDED
id in db is: 287951
inserted disease: 29 ORPHA Mevalonic aciduria
id in db is: 287952
inserted disease: 744 ORPHA Proteus syndrome
id in db is: 287953
inserted disease: 139630 OMIM HAIRY NOSE TIP
id in db is: 287954
inserted disease: 616625 OMIM #616625 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W; CMT2W;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W
id in db is: 287955
inserted disease: 609597 OMIM #609597 PARIETAL FORAMINA 2; PFM2
id in db is: 287956
inserted disease: 228390 ORPHA Frontonasal dysplasia with alopecia and genital anomaly
id in db is: 287957
inserted disease: 613287 OMIM #613287 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N
id in db is: 287958
inserted disease: 949 ORPHA Acrocraniofacial dysostosis
id in db is: 287959
inserted disease: 268000 OMIM RETINITIS PIGMENTOSA
id in db is: 287960
inserted disease: 93259 ORPHA Pfeiffer syndrome type 2
id in db is: 287961
inserted disease: 616681 OMIM #616681 MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16
id in db is: 287962
inserted disease: 124400 OMIM DARWINIAN TUBERCLE OF PINNA
id in db is: 287963
inserted disease: 312530 OMIM RETINAL DETACHMENT
id in db is: 287964
inserted disease: 202300 OMIM ADRENOCORTICAL CARCINOMA, HEREDITARY
id in db is: 287965
inserted disease: 187950 OMIM THROMBOCYTHEMIA, ESSENTIAL
id in db is: 287966
inserted disease: 608644 OMIM #608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3;;CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS
id in db is: 287967
inserted disease: 143860 OMIM #143860 HYPERCHLORHIDROSIS, ISOLATED
id in db is: 287968
inserted disease: 613805 OMIM #613805 MEIER-GORLIN SYNDROME 5; MGORS5
id in db is: 287969
inserted disease: 321 ORPHA Multiple osteochondromas
id in db is: 287970
inserted disease: 170700 OMIM PERIPHERAL DYSOSTOSIS
id in db is: 287971
inserted disease: 220393 ORPHA Diffuse cutaneous systemic sclerosis
id in db is: 287972
inserted disease: 915 ORPHA Aarskog-Scott syndrome
id in db is: 287973
inserted disease: 139400 OMIM HAIR WHORL
id in db is: 287974
inserted disease: 600991 OMIM 600991 HYDROCEPHALUS, SPRENGEL ANOMALY, AND COSTOVERTEBRAL DYSPLASIA
id in db is: 287975
inserted disease: 152900 OMIM LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY
id in db is: 287976
inserted disease: 615523 OMIM #615523 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8
id in db is: 287977
inserted disease: 289916 ORPHA Vitamin B12-unresponsive methylmalonic acidemia type mut0
id in db is: 287978
inserted disease: 245190 OMIM KNIEST-LIKE DYSPLASIA, LETHAL
id in db is: 287979
inserted disease: 612390 OMIM #612390 PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C
id in db is: 287980
inserted disease: 135800 OMIM 135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF
id in db is: 287981
inserted disease: 181030 OMIM SALIVARY GLAND ADENOMA, PLEOMORPHIC
id in db is: 287982
inserted disease: 251300 OMIM GALLOWAY-MOWAT SYNDROME; GAMOS
id in db is: 287983
inserted disease: 193000 OMIM VESICOURETERAL REFLUX 1
id in db is: 287984
inserted disease: 147892 OMIM DEIODINASE, IODOTHYRONINE, TYPE I; DIO1
id in db is: 287985
inserted disease: 615707 OMIM IMMUNODEFICIENCY 20; IMD20
id in db is: 287986
inserted disease: 615179 OMIM #615179 ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5
id in db is: 287987
inserted disease: 141500 OMIM #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED
id in db is: 287988
inserted disease: 151050 OMIM #151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD;;LENZ-MAJEWSKI SYNDROME
id in db is: 287989
inserted disease: 1716 ORPHA Distal trisomy 18q
id in db is: 287990
inserted disease: 137 ORPHA Congenital disorder of glycosylation
id in db is: 287991
inserted disease: 65250 ORPHA Perineural cyst
id in db is: 287992
inserted disease: 612075 OMIM #612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITHRENAL TUBULOPATHY); MTDPS8A;;MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENALTUBULOPATHY, AUTOSOMAL RECESSIVEMITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED; MTDPS8B,INCLUDED;;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED,INCLUDED;;MNGIE, RRM2B-RELATED, INCLUDED
id in db is: 287993
inserted disease: 276580 ORPHA Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
id in db is: 287994
inserted disease: 605714 OMIM #605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED;;AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED;;AMYLOIDOSIS, HEREDITARY, WITH CEREBRAL HEMORRHAGE, DUTCH VARIANT;HCHWAD;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT
id in db is: 287995
inserted disease: 615643 OMIM NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6
id in db is: 287996
inserted disease: 159550 OMIM MYELOCEREBELLAR DISORDER
id in db is: 287997
inserted disease: 613751 OMIM #613751 HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4
id in db is: 287998
inserted disease: 312760 OMIM RIBOSOMAL PROTEIN S4, X-LINKED
id in db is: 287999
inserted disease: 1000 ORPHA Ocular albinism with late-onset sensorineural deafness
id in db is: 288000
inserted disease: 90794 ORPHA Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
id in db is: 288001
inserted disease: 308205 OMIM #308205 IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME;;ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUTBRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS,HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM,AND KIDNEY DYSPLASIA/HYPOPLASIA
id in db is: 288002
inserted disease: 600059 OMIM RETINITIS PIGMENTOSA 13; RP13
id in db is: 288003
inserted disease: 143870 OMIM #143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2;;HYPERCALCIURIA, FAMILIAL IDIOPATHIC
id in db is: 288004
inserted disease: 205000 OMIM AMYOTONIA CONGENITA
id in db is: 288005
inserted disease: 254120 OMIM 254120 MUSCULAR HYPERTONIA, LETHAL
id in db is: 288006
inserted disease: 158901 OMIM #158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2;;FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC;;FSHD2, DIGENIC;;MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 2;;MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B; FSHD1B
id in db is: 288007
inserted disease: 615059 OMIM #615059 HYPOTRICHOSIS 11; HYPT11
id in db is: 288008
inserted disease: 614748 OMIM INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB
id in db is: 288009
inserted disease: 159000 OMIM #159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A;;LGMD1;;MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1A
id in db is: 288010
inserted disease: 312612 OMIM %312612 RETINITIS PIGMENTOSA 6; RP6;;RETINITIS PIGMENTOSA, X-LINKED RECESSIVE, 6
id in db is: 288011
inserted disease: 454 ORPHA Acquired ichthyosis
id in db is: 288012
inserted disease: 145680 OMIM DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA
id in db is: 288013
inserted disease: 1918 ORPHA Fetal minoxidil syndrome
id in db is: 288014
inserted disease: 446 ORPHA Neonatal hemochromatosis
id in db is: 288015
inserted disease: 203300 OMIM #203300 HERMANSKY-PUDLAK SYNDROME 1; HPS1;;ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIALCELLS;;DELTA STORAGE POOL DISEASE
id in db is: 288016
inserted disease: 1332 ORPHA Medullary thyroid carcinoma
id in db is: 288017
inserted disease: 1553 ORPHA Curry-Jones syndrome
id in db is: 288018
inserted disease: 606777 OMIM #606777 GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1;;GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIERGLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED
id in db is: 288019
inserted disease: 225 ORPHA Maternally-inherited diabetes and deafness
id in db is: 288020
inserted disease: 232500 OMIM #232500 GLYCOGEN STORAGE DISEASE IV; GSD4;;GSD IV;;GLYCOGEN BRANCHING ENZYME DEFICIENCY;;GBE1 DEFICIENCY;;ANDERSEN DISEASE;;BRANCHER DEFICIENCY;;GLYCOGENOSIS IV;;AMYLOPECTINOSIS;;CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGENGSD IV, CLASSIC HEPATIC, INCLUDED;;GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED;;GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED;;GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED;;GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED;;GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED
id in db is: 288021
inserted disease: 169600 OMIM BENIGN CHRONIC PEMPHIGUS
id in db is: 288022
inserted disease: 1340 ORPHA Cardiofaciocutaneous syndrome
id in db is: 288023
inserted disease: 261222 ORPHA Distal 16p11.2 microdeletion syndrome
id in db is: 288024
inserted disease: 102370 OMIM ACROMICRIC DYSPLASIA
id in db is: 288025
inserted disease: 192430 OMIM #192430 VELOCARDIOFACIAL SYNDROME;;CHROMOSOME 22q11.2 DELETION SYNDROME;;VCF SYNDROME; VCFS;;SHPRINTZEN VCF SYNDROME
id in db is: 288026
inserted disease: 236795 OMIM %236795 3-@HYDROXYISOBUTYRIC ACIDURIA
id in db is: 288027
inserted disease: 615561 OMIM #615561 COMPLEMENT FACTOR B DEFICIENCY; CFBD
id in db is: 288028
inserted disease: 99736 ORPHA Acetazolamide-responsive myotonia
id in db is: 288029
inserted disease: 613861 OMIM #613861 RETINITIS PIGMENTOSA 59; RP59
id in db is: 288030
inserted disease: 612621 OMIM #612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
id in db is: 288031
inserted disease: 610921 OMIM #610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3;;PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3;;INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY
id in db is: 288032
inserted disease: 253550 OMIM SPINAL MUSCULAR ATROPHY, TYPE II
id in db is: 288033
inserted disease: 157980 OMIM 157980 MOMO SYNDROME;;MACROSOMIA, OBESITY, MACROCEPHALY, AND OCULAR ABNORMALITIES
id in db is: 288034
inserted disease: 1968 ORPHA Flat face-microstomia-ear anomaly syndrome
id in db is: 288035
inserted disease: 1672 ORPHA Diencephalic syndrome
id in db is: 288036
inserted disease: 2081 ORPHA Cerebral gigantism-jaw cysts syndrome
id in db is: 288037
inserted disease: 271245 OMIM #271245 MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7;;SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET; IOSCA;;OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPACUSIS, AND ATHETOSIS;;OHAHA SYNDROME;;SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY;;SPINOCEREBELLAR ATAXIA 8, FORMERLY; SCA8, FORMERLY
id in db is: 288038
inserted disease: 230800 OMIM #230800 GAUCHER DISEASE, TYPE I;;GD I;;GAUCHER DISEASE, NONCEREBRAL JUVENILE;;GLUCOCEREBROSIDASE DEFICIENCY;;ACID BETA-GLUCOSIDASE DEFICIENCY;;GBA DEFICIENCY
id in db is: 288039
inserted disease: 304900 OMIM DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
id in db is: 288040
inserted disease: 2073 ORPHA Narcolepsy-cataplexy syndrome
id in db is: 288041
inserted disease: 2801 ORPHA Juvenile Paget disease
id in db is: 288042
inserted disease: 615878 OMIM CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4
id in db is: 288043
inserted disease: 613628 OMIM %613628 ODONTOID HYPOPLASIA
id in db is: 288044
inserted disease: 609306 OMIM SPINOCEREBELLAR ATAXIA 26
id in db is: 288045
inserted disease: 616366 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32
id in db is: 288046
inserted disease: 614321 OMIM #614321 MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT
id in db is: 288047
inserted disease: 614868 OMIM #614868 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS; TIIAC;;STK4 DEFICIENCY;;MST1 DEFICIENCY
id in db is: 288048
inserted disease: 607616 OMIM NIEMANN-PICK DISEASE, TYPE B
id in db is: 288049
inserted disease: 602199 OMIM MEDIUM CHAIN 3-KETOACYL-COA THIOLASE DEFICIENCY
id in db is: 288050
inserted disease: 2252 ORPHA Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
id in db is: 288051
inserted disease: 69063 ORPHA Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
id in db is: 288052
inserted disease: 180020 OMIM RETINAL CONE DYSTROPHY 1; RCD1
id in db is: 288053
inserted disease: 609654 OMIM SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS
id in db is: 288054
inserted disease: 614700 OMIM #614700 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8
id in db is: 288055
inserted disease: 300872 OMIM #300872 EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY; TMLHED;;AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6
id in db is: 288056
inserted disease: 108300 OMIM #108300 STICKLER SYNDROME, TYPE I; STL1;;STICKLER SYNDROME, VITREOUS TYPE 1;;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM
id in db is: 288057
inserted disease: 573 ORPHA Monilethrix
id in db is: 288058
inserted disease: 233 ORPHA Duane retraction syndrome
id in db is: 288059
inserted disease: 251850 OMIM DIARRHEA 2, WITH MICROVILLOUS ATROPHY
id in db is: 288060
inserted disease: 156850 OMIM MICROPHTHALMIA, ISOLATED, WITH CATARACT 1
id in db is: 288061
inserted disease: 220200 OMIM %220200 DANDY-WALKER SYNDROME; DWSDANDY-WALKER MALFORMATION, INCLUDED; DWM, INCLUDED
id in db is: 288062
inserted disease: 234200 OMIM #234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1;;PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN;;PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET;;HALLERVORDEN-SPATZ DISEASE
id in db is: 288063
inserted disease: 308300 OMIM #308300 INCONTINENTIA PIGMENTI; IP;;INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE;;BLOCH-SULZBERGER SYNDROME;;INCONTINENTIA PIGMENTI, TYPE II, FORMERLY; IP2, FORMERLY
id in db is: 288064
inserted disease: 608654 OMIM #608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5;;HSAN V;;INSENSITIVITY TO PAIN, CONGENITAL
id in db is: 288065
inserted disease: 610460 OMIM THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
id in db is: 288066
inserted disease: 610198 OMIM #610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5;;CARDIOMYOPATHY, DILATED, WITH ATAXIA; DCMA;;MGA, TYPE V; MGA5
id in db is: 288067
inserted disease: 193235 OMIM VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
id in db is: 288068
inserted disease: 615963 OMIM VESICOURETERAL REFLUX 8; VUR8
id in db is: 288069
inserted disease: 125640 OMIM DERMOODONTODYSPLASIA
id in db is: 288070
inserted disease: 85169 ORPHA Familial digital arthropathy-brachydactyly
id in db is: 288071
inserted disease: 122700 OMIM COUMARIN RESISTANCE
id in db is: 288072
inserted disease: 137940 OMIM HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS
id in db is: 288073
inserted disease: 615441 OMIM #615441 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH ORWITHOUT MUSCLE WEAKNESS; CPVT5
id in db is: 288074
inserted disease: 256370 OMIM NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS
id in db is: 288075
inserted disease: 311400 OMIM PAINE SYNDROME
id in db is: 288076
inserted disease: 616069 OMIM INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2
id in db is: 288077
inserted disease: 96168 ORPHA Monosomy 13q34
id in db is: 288078
inserted disease: 26137 ORPHA Juvenile temporal arteritis
id in db is: 288079
inserted disease: 272460 OMIM #272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT;;SPONDYLOCARPOTARSAL SYNDROME;;SYNSPONDYLISM, CONGENITAL;;VERTEBRAL FUSION WITH CARPAL COALITION;;SCOLIOSIS, CONGENITAL, WITH UNILATERAL UNSEGMENTED BAR
id in db is: 288080
inserted disease: 97280 ORPHA Glucagonoma
id in db is: 288081
inserted disease: 158014 ORPHA Rosaï-Dorfman disease
id in db is: 288082
inserted disease: 131450 OMIM EPIBLEPHARON OF LOWER LID
id in db is: 288083
inserted disease: 309300 OMIM #309300 MEGALOCORNEA; MGC1;;MGCN
id in db is: 288084
inserted disease: 615236 OMIM MICROCEPHALY - INTELLECTUAL DISABILITY - PHALANGEAL AND NEUROLOGICAL ANOMALIES
id in db is: 288085
inserted disease: 1797 ORPHA Autosomal dominant spondylocostal dysostosis
id in db is: 288086
inserted disease: 957 ORPHA Acropectorovertebral dysplasia
id in db is: 288087
inserted disease: 613953 OMIM #613953 CANDIDIASIS, FAMILIAL, 5; CANDF5;;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE
id in db is: 288088
inserted disease: 615182 OMIM #615182 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD
id in db is: 288089
inserted disease: 118900 OMIM 118900 CIRRHOSIS, FAMILIAL
id in db is: 288090
inserted disease: 90291 ORPHA Systemic sclerosis
id in db is: 288091
inserted disease: 613195 OMIM #613195 WEILL-MARCHESANI-LIKE SYNDROME
id in db is: 288092
inserted disease: 137817 ORPHA Arachnoiditis
id in db is: 288093
inserted disease: 613075 OMIM #613075 MACS SYNDROME;;MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS;;TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
id in db is: 288094
inserted disease: 617 ORPHA Congenital primary megaureter
id in db is: 288095
inserted disease: 223340 OMIM DK PHOCOMELIA SYNDROME
id in db is: 288096
inserted disease: 55881 ORPHA Adamantinoma
id in db is: 288097
inserted disease: 603233 OMIM PSEUDOHYPOPARATHYROIDISM, TYPE IB
id in db is: 288098
inserted disease: 228415 ORPHA 5q35 microduplication syndrome
id in db is: 288099
inserted disease: 601707 OMIM CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMALSKIN AND GUT DEVELOPMENT
id in db is: 288100
inserted disease: 794 ORPHA Saethre-Chotzen syndrome
id in db is: 288101
inserted disease: 550 ORPHA MELAS
id in db is: 288102
inserted disease: 127100 OMIM DWARFISM, LEVI TYPE
id in db is: 288103
inserted disease: 615735 OMIM #615735 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD
id in db is: 288104
inserted disease: 250410 OMIM METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA
id in db is: 288105
inserted disease: 300749 OMIM MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH
id in db is: 288106
inserted disease: 270450 OMIM INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
id in db is: 288107
inserted disease: 268025 OMIM RETINITIS PIGMENTOSA, LATE-ADULT ONSET
id in db is: 288108
inserted disease: 604271 OMIM SHORT STATURE, IDIOPATHIC, AUTOSOMAL
id in db is: 288109
inserted disease: 300695 OMIM #300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM;;SCAPULOPERONEAL MYOPATHY, FHL1-RELATED
id in db is: 288110
inserted disease: 166900 OMIM OVALOCYTOSIS, HEREDITARY HEMOLYTIC
id in db is: 288111
inserted disease: 614871 OMIM PEROXISOME BIOGENESIS DISORDER 6B; PBD6B
id in db is: 288112
inserted disease: 615356 OMIM #615356 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S
id in db is: 288113
inserted disease: 93267 ORPHA Cloverleaf skull-multiple congenital anomalies syndrome
id in db is: 288114
inserted disease: 607872 OMIM CHROMOSOME 1p36 DELETION SYNDROME
id in db is: 288115
inserted disease: 614492 OMIM #614492 PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C
id in db is: 288116
inserted disease: 276700 OMIM TYROSINEMIA, TYPE I; TYRSN1
id in db is: 288117
inserted disease: 178481 ORPHA Intestinal botulism
id in db is: 288118
inserted disease: 308850 OMIM LARYNGEAL ABDUCTOR PARALYSIS
id in db is: 288119
inserted disease: 300869 OMIM #300869 CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
id in db is: 288120
inserted disease: 129 ORPHA Pseudopelade of Brocq
id in db is: 288121
inserted disease: 1457 ORPHA Aorta coarctation
id in db is: 288122
inserted disease: 151900 OMIM LIPOMATOSIS, MULTIPLE
id in db is: 288123
inserted disease: 158345 OMIM MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS
id in db is: 288124
inserted disease: 602400 OMIM ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11
id in db is: 288125
inserted disease: 193007 OMIM VESTIBULOPATHY, FAMILIAL
id in db is: 288126
inserted disease: 613280 OMIM %613280 HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC
id in db is: 288127
inserted disease: 2148 ORPHA Lissencephaly type 1 due to doublecortin gene mutation
id in db is: 288128
inserted disease: 130100 OMIM ELASTOSIS PERFORANS SERPIGINOSA
id in db is: 288129
inserted disease: 105600 OMIM ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III
id in db is: 288130
inserted disease: 613689 OMIM %613689 MAMMARY-DIGITAL-NAIL SYNDROME; MDNS
id in db is: 288131
inserted disease: 610759 OMIM #610759 CORNELIA DE LANGE SYNDROME 3; CDLS3
id in db is: 288132
inserted disease: 142400 OMIM HERNIA, HIATUS
id in db is: 288133
inserted disease: 191520 OMIM UPINGTON DISEASE
id in db is: 288134
inserted disease: 2239 ORPHA Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
id in db is: 288135
inserted disease: 212067 OMIM 212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx;;CDG-x
id in db is: 288136
inserted disease: 99977 ORPHA Squamous cell carcinoma of esophagus
id in db is: 288137
inserted disease: 182170 OMIM ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT
id in db is: 288138
inserted disease: 3233 ORPHA Cochleosaccular degeneration-cataract syndrome
id in db is: 288139
inserted disease: 194470 OMIM ZINC, ELEVATED PLASMA
id in db is: 288140
inserted disease: 601389 OMIM CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION
id in db is: 288141
inserted disease: 182150 OMIM 182150 SIMOSA CRANIOFACIAL SYNDROME
id in db is: 288142
inserted disease: 1794 ORPHA Oculomaxillofacial dysostosis
id in db is: 288143
inserted disease: 1117 ORPHA Aplasia cutis-myopia syndrome
id in db is: 288144
inserted disease: 661 ORPHA Ondine syndrome
id in db is: 288145
inserted disease: 52183 ORPHA Premature chromosome condensation with microcephaly and intellectual disability
id in db is: 288146
inserted disease: 99832 ORPHA Resistance to thyrotropin-releasing hormone syndrome
id in db is: 288147
inserted disease: 154700 OMIM #154700 MARFAN SYNDROME; MFS;;MARFAN SYNDROME, TYPE I; MFS1
id in db is: 288148
inserted disease: 77301 ORPHA Monosomy 9q22.3
id in db is: 288149
inserted disease: 2705 ORPHA Oculocerebral dysplasia
id in db is: 288150
inserted disease: 312100 OMIM PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I
id in db is: 288151
inserted disease: 211170 OMIM %211170 BORRONE DERMATOCARDIOSKELETAL SYNDROME
id in db is: 288152
inserted disease: 615274 OMIM CATARACT 15, MULTIPLE TYPES; CTRCT15
id in db is: 288153
inserted disease: 192000 OMIM UTERINE ANOMALIES
id in db is: 288154
inserted disease: 607624 OMIM GRISCELLI SYNDROME, TYPE 2
id in db is: 288155
inserted disease: 614684 OMIM %614684 HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES
id in db is: 288156
inserted disease: 262600 OMIM #262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2;;PANHYPOPITUITARISM;;ATELIOTIC DWARFISM WITH HYPOGONADISM;;PITUITARY DWARFISM III;;HANHART DWARFISM
id in db is: 288157
inserted disease: 300291 OMIM #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY;;HED-IDECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED;;EDA-ID, INCLUDED;;HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMALDYSPLASIA, INCLUDED;;XHM-ED, INCLUDED
id in db is: 288158
inserted disease: 122600 OMIM #122600 SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT; SCDO5;;SPONDYLOCOSTAL DYSPLASIA, DOMINANT FORM;;SPONDYLOTHORACIC DYSOSTOSIS, AUTOSOMAL DOMINANT;;COSTOVERTEBRAL SEGMENTATION ANOMALIESPOLYDYSSPONDYLY, INCLUDED
id in db is: 288159
inserted disease: 611490 OMIM #611490 OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4; OPTB4;;OSTEOPETROSIS, INFANTILE MALIGNANT 2
id in db is: 288160
inserted disease: 113100 OMIM #113100 BRACHYDACTYLY, TYPE C; BDC;;BRACHYDACTYLY, HAWS TYPE
id in db is: 288161
inserted disease: 607644 OMIM %607644 CANDIDIASIS, FAMILIAL, 3; CANDF3;;CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1;;FCNC
id in db is: 288162
inserted disease: 125400 OMIM #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
id in db is: 288163
inserted disease: 134900 OMIM FIBRINOLYTIC DEFECT
id in db is: 288164
inserted disease: 311510 OMIM WAISMAN SYNDROME; WSMN
id in db is: 288165
inserted disease: 1506 ORPHA Thin ribs-tubular bones-dysmorphism syndrome
id in db is: 288166
inserted disease: 615605 OMIM #615605 FANCONI RENOTUBULAR SYNDROME 3; FRTS3
id in db is: 288167
inserted disease: 266100 OMIM EPILEPSY, PYRIDOXINE-DEPENDENT; EPD
id in db is: 288168
inserted disease: 615538 OMIM CHROMOSOME 22q13 DUPLICATION SYNDROME
id in db is: 288169
inserted disease: 171720 OMIM ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
id in db is: 288170
inserted disease: 609165 OMIM #609165 ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE;;ICHTHYOSIS WITH CONFETTI; IWC;;ICHTHYOSIS VARIEGATAERYTHROKERATODERMA, RETICULAR, INCLUDED;;AARAU DISEASE, INCLUDED
id in db is: 288171
inserted disease: 145350 OMIM HYPERTAURINURIC CARDIOMYOPATHY
id in db is: 288172
inserted disease: 250300 OMIM METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE
id in db is: 288173
inserted disease: 602361 OMIM #602361 GRACILE BONE DYSPLASIA; GCLEB;;SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;;OSTEOCRANIOSPLENIC SYNDROME;;OSTEOCRANIOSTENOSIS;;HABRODYSPLASIA
id in db is: 288174
inserted disease: 603041 OMIM #603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1;;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED;;MNGIE, TYMP-RELATED;;MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME;;POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINALPSEUDOOBSTRUCTION;;POLIP SYNDROME
id in db is: 288175
inserted disease: 178382 ORPHA Congenital vertical talus
id in db is: 288176
inserted disease: 3156 ORPHA Senior-Loken syndrome
id in db is: 288177
inserted disease: 85212 ORPHA Fetal Gaucher disease
id in db is: 288178
inserted disease: 613823 OMIM #613823 SECKEL SYNDROME 5; SCKL5
id in db is: 288179
inserted disease: 270100 OMIM #270100 HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5;;SITUS INVERSUS VISCERUM; SIV
id in db is: 288180
inserted disease: 1228 ORPHA Banki syndrome
id in db is: 288181
inserted disease: 249210 OMIM %249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME;;MMIH SYNDROME;;BERDON SYNDROME
id in db is: 288182
inserted disease: 611884 OMIM CILIARY DYSKINESIA, PRIMARY, 7; CILD7
id in db is: 288183
inserted disease: 203740 OMIM ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
id in db is: 288184
inserted disease: 90970 ORPHA Primary lipodystrophy
id in db is: 288185
inserted disease: 300752 OMIM #300752 PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP;;PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT; XLDPP;;ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED;
id in db is: 288186
inserted disease: 611022 OMIM DEAFNESS, AUTOSOMAL RECESSIVE, 24
id in db is: 288187
inserted disease: 600776 OMIM 600776 FRYNS MICROPHTHALMIA SYNDROME;;MICROPHTHALMIA WITH FACIAL CLEFTING;;ANOPHTHALMIA-PLUS SYNDROME
id in db is: 288188
inserted disease: 303900 OMIM COLORBLINDNESS, PARTIAL, PROTAN SERIES
id in db is: 288189
inserted disease: 245600 OMIM #245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
id in db is: 288190
inserted disease: 281090 ORPHA Syndromic X-linked ichthyosis
id in db is: 288191
inserted disease: 601499 OMIM %601499 AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2;;RIEGER SYNDROME, TYPE 2
id in db is: 288192
inserted disease: 142310 OMIM HEMOGLOBIN--ZETA LOCUS
id in db is: 288193
inserted disease: 182260 OMIM SLIPPED FEMORAL CAPITAL EPIPHYSES
id in db is: 288194
inserted disease: 236450 OMIM 236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME;;COND;;CEREBROOSTEONEPHOSIS SYNDROME
id in db is: 288195
inserted disease: 607821 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37
id in db is: 288196
inserted disease: 165150 OMIM OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY
id in db is: 288197
inserted disease: 312210 OMIM RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY
id in db is: 288198
inserted disease: 121900 OMIM GROENOUW TYPE I CORNEAL DYSTROPHY
id in db is: 288199
inserted disease: 92 DECIPHER Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
id in db is: 288200
inserted disease: 148370 OMIM KERATOLYTIC WINTER ERYTHEMA
id in db is: 288201
inserted disease: 253320 OMIM 253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPICHYPOGONADISM;;CHUDLEY SYNDROME
id in db is: 288202
inserted disease: 162350 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
id in db is: 288203
inserted disease: 53271 ORPHA Muenke syndrome
id in db is: 288204
inserted disease: 265400 OMIM 265400 PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE
id in db is: 288205
inserted disease: 231080 OMIM 231080 GERMAN SYNDROME
id in db is: 288206
inserted disease: 125530 OMIM DERMAL RIDGES, NELSON SYNDROME
id in db is: 288207
inserted disease: 613776 OMIM #613776 CHROMOSOME 17p13.1 DELETION SYNDROME
id in db is: 288208
inserted disease: 609579 OMIM FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE
id in db is: 288209
inserted disease: 53 ORPHA Albers-Schönberg osteopetrosis
id in db is: 288210
inserted disease: 614180 OMIM #614180 RETINITIS PIGMENTOSA 61; RP61
id in db is: 288211
inserted disease: 191540 OMIM URATE OXIDASE
id in db is: 288212
inserted disease: 143100 OMIM HUNTINGTON DISEASE; HD
id in db is: 288213
inserted disease: 249300 OMIM 249300 MEGALOCORNEA
id in db is: 288214
inserted disease: 1369 ORPHA Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
id in db is: 288215
inserted disease: 144650 OMIM HYPERLIPOPROTEINEMIA, TYPE V
id in db is: 288216
inserted disease: 158330 OMIM #158330 MULLERIAN APLASIA AND HYPERANDROGENISM;;MULLERIAN DUCT FAILURE AND HYPERANDROGENISM
id in db is: 288217
inserted disease: 612518 OMIM #612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10
id in db is: 288218
inserted disease: 192200 OMIM VARICOSE VEINS
id in db is: 288219
inserted disease: 300071 OMIM #300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A;;CSNB, INCOMPLETE, X-LINKED;;NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2
id in db is: 288220
inserted disease: 236 ORPHA Trisomy 9p
id in db is: 288221
inserted disease: 277700 OMIM #277700 WERNER SYNDROME; WRN
id in db is: 288222
inserted disease: 609941 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 51
id in db is: 288223
inserted disease: 2070 ORPHA Eosinophilic gastroenteritis
id in db is: 288224
inserted disease: 440727 ORPHA Combined hamartoma of the retina and retinal pigment epithelium
id in db is: 288225
inserted disease: 614389 OMIM #614389 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1;;RPRGL;;RPL;;ABORTION, SPONTANEOUS, RECURRENT;;FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO;;MISCARRIAGE, RECURRENT;;EMBRYONIC LOSS, RECURRENT;;STILLBIRTH, RECURRENT
id in db is: 288226
inserted disease: 613024 OMIM FOLLICULAR LYMPHOMA
id in db is: 288227
inserted disease: 202 ORPHA Crandall syndrome
id in db is: 288228
inserted disease: 604537 OMIM #604537 LEBER CONGENITAL AMAUROSIS 5; LCA5
id in db is: 288229
inserted disease: 615034 OMIM #615034 DYSTONIA 24; DYT24
id in db is: 288230
inserted disease: 302380 OMIM %302380 CATEL-MANZKE SYNDROME;;HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME;;PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY;;INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME;;PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE;;MICROGNATHIA DIGITAL SYNDROME
id in db is: 288231
inserted disease: 125310 OMIM #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL
id in db is: 288232
inserted disease: 614042 OMIM #614042 MOYAMOYA DISEASE 5; MYMY5
id in db is: 288233
inserted disease: 237000 OMIM HYDROXYPROLINEMIA
id in db is: 288234
inserted disease: 330021 ORPHA Mercury poisoning
id in db is: 288235
inserted disease: 2698 ORPHA Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
id in db is: 288236
inserted disease: 616399 OMIM BRUGADA SYNDROME 9; BRGDA9
id in db is: 288237
inserted disease: 79280 ORPHA Alpha-N-acetylgalactosaminidase deficiency type 2
id in db is: 288238
inserted disease: 43 DECIPHER 7q11.23 duplication syndrome
id in db is: 288239
inserted disease: 477 ORPHA KID syndrome
id in db is: 288240
inserted disease: 610539 OMIM #610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
id in db is: 288241
inserted disease: 105800 OMIM ANEURYSM, INTRACRANIAL BERRY, 1
id in db is: 288242
inserted disease: 352723 ORPHA Attenuated Chédiak-Higashi syndrome
id in db is: 288243
inserted disease: 615515 OMIM AMYOTROPHIC LATERAL SCLEROSIS 19; ALS19
id in db is: 288244
inserted disease: 648 ORPHA Noonan syndrome
id in db is: 288245
inserted disease: 206583 ORPHA Adult polyglucosan body disease
id in db is: 288246
inserted disease: 217200 OMIM CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET
id in db is: 288247
inserted disease: 93394 ORPHA Brachydactyly type A4
id in db is: 288248
inserted disease: 613308 OMIM #613308 DIAMOND-BLACKFAN ANEMIA 9; DBA9
id in db is: 288249
inserted disease: 306700 OMIM HEMOPHILIA A
id in db is: 288250
inserted disease: 614594 OMIM #614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES;;OLMSTED SYNDROME; OLMS
id in db is: 288251
inserted disease: 183800 OMIM 183800 SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS;;NYSTAGMUS-SPLIT HAND SYNDROME;;KARSCH-NEUGEBAUER SYNDROME; KNS
id in db is: 288252
inserted disease: 175200 OMIM #175200 PEUTZ-JEGHERS SYNDROME; PJS;;POLYPOSIS, HAMARTOMATOUS INTESTINAL;;POLYPS-AND-SPOTS SYNDROME
id in db is: 288253
inserted disease: 272370 OMIM SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS
id in db is: 288254
inserted disease: 1198 ORPHA Colonic atresia
id in db is: 288255
inserted disease: 1931 ORPHA Frontal encephalocele
id in db is: 288256
inserted disease: 273050 OMIM TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM
id in db is: 288257
inserted disease: 608257 OMIM MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT
id in db is: 288258
inserted disease: 87 ORPHA Apert syndrome
id in db is: 288259
inserted disease: 612572 OMIM #612572 RETINITIS PIGMENTOSA 46; RP46;;RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED
id in db is: 288260
inserted disease: 615297 OMIM #615297 ADAMS-OLIVER SYNDROME 4; AOS4
id in db is: 288261
inserted disease: 2500 ORPHA Acrogeria
id in db is: 288262
inserted disease: 613252 OMIM #613252 CARDIOMYOPATHY, DILATED, 1EE; CMD1EE
id in db is: 288263
inserted disease: 407 ORPHA Glycine encephalopathy
id in db is: 288264
inserted disease: 253010 OMIM #253010 MUCOPOLYSACCHARIDOSIS TYPE IVB;;MORQUIO SYNDROME B;;MPS IVB; MPS4B
id in db is: 288265
inserted disease: 613426 OMIM #613426 CARDIOMYOPATHY, DILATED, 1S; CMD1SLEFT VENTRICULAR NONCOMPACTION 5, INCLUDED; LVNC5, INCLUDED
id in db is: 288266
inserted disease: 248510 OMIM MANNOSIDOSIS, BETA A, LYSOSOMAL
id in db is: 288267
inserted disease: 211480 OMIM 211480 BUERGER DISEASE;;THROMBOANGIITIS OBLITERANS
id in db is: 288268
inserted disease: 606483 OMIM CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; CMTDIA
id in db is: 288269
inserted disease: 204200 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 3
id in db is: 288270
inserted disease: 604233 OMIM #604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1;;GEFS+, TYPE 1; GEFS+1
id in db is: 288271
inserted disease: 615558 OMIM #615558 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1;;HYPOBETALIPOPROTEINEMIA, FAMILIAL; FHBL;;ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA;;HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
id in db is: 288272
inserted disease: 291 ORPHA Congenital varicella syndrome
id in db is: 288273
inserted disease: 246500 OMIM LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS
id in db is: 288274
inserted disease: 1713 ORPHA 17p11.2 microduplication syndrome
id in db is: 288275
inserted disease: 212800 OMIM CEPHALIN LIPIDOSIS
id in db is: 288276
inserted disease: 310468 OMIM NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE
id in db is: 288277
inserted disease: 614149 OMIM %614149 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9; NDNC9;;ANONYCHIA-ONYCHOLYSIS, ISOLATED;;ONYCHODYSTROPHY;;NAIL DYSPLASIA
id in db is: 288278
inserted disease: 261900 OMIM PILI TORTI, EARLY-ONSET
id in db is: 288279
inserted disease: 274900 OMIM THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5
id in db is: 288280
inserted disease: 2869 ORPHA Peutz-Jeghers syndrome
id in db is: 288281
inserted disease: 203760 OMIM ALPHA-2-DEFICIENT COLLAGEN DISEASE
id in db is: 288282
inserted disease: 256050 OMIM #256050 ATELOSTEOGENESIS, TYPE II; AOII;;AO2;;NEONATAL OSSEOUS DYSPLASIA IDE LA CHAPELLE DYSPLASIA, INCLUDED; DLCD, INCLUDED
id in db is: 288283
inserted disease: 411629 ORPHA Nephropathic infantile cystinosis
id in db is: 288284
inserted disease: 610984 OMIM #610984 COMPLEMENT FACTOR I DEFICIENCY; CFID;;COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY;;C3 INACTIVATOR DEFICIENCY
id in db is: 288285
inserted disease: 580000 OMIM DEAFNESS, AMINOGLYCOSIDE-INDUCED
id in db is: 288286
inserted disease: 137920 OMIM #137920 RENAL CYSTS AND DIABETES SYNDROME; RCAD;;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; MODY5;;HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL;;FJHN, ATYPICAL;;GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE;;GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC;;CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES;;CAKUT WITH DIABETES
id in db is: 288287
inserted disease: 272 ORPHA Congenital muscular dystrophy, Fukuyama type
id in db is: 288288
inserted disease: 266300 OMIM SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
id in db is: 288289
inserted disease: 112310 OMIM BOOMERANG DYSPLASIA
id in db is: 288290
inserted disease: 256731 OMIM #256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5;;CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSETNEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED;;FINNISH vLINCL, INCLUDED
id in db is: 288291
inserted disease: 616400 OMIM PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2; FNEPPK2
id in db is: 288292
inserted disease: 95713 ORPHA Athyreosis
id in db is: 288293
inserted disease: 155755 OMIM MELANOMA-ASTROCYTOMA SYNDROME
id in db is: 288294
inserted disease: 254110 OMIM MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
id in db is: 288295
inserted disease: 238329 ORPHA Severe X-linked mitochondrial encephalomyopathy
id in db is: 288296
inserted disease: 227280 OMIM 227280 FACIOCARDIORENAL SYNDROME;;EASTMAN-BIXLER SYNDROME
id in db is: 288297
inserted disease: 126320 OMIM DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL
id in db is: 288298
inserted disease: 114000 OMIM CAFFEY DISEASE
id in db is: 288299
inserted disease: 126300 OMIM DISTICHIASIS
id in db is: 288300
inserted disease: 133239 OMIM ESOPHAGEAL CANCERESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED
id in db is: 288301
inserted disease: 1587 ORPHA Monosomy 13q14
id in db is: 288302
inserted disease: 169090 ORPHA Combined immunodeficiency due to CRAC channel dysfunction
id in db is: 288303
inserted disease: 108200 OMIM ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS
id in db is: 288304
inserted disease: 218530 OMIM 218530 CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS
id in db is: 288305
inserted disease: 300659 OMIM #300659 MENTAL RETARDATION, X-LINKED 93; MRX93;;MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY
id in db is: 288306
inserted disease: 217 ORPHA Isolated Dandy-Walker malformation
id in db is: 288307
inserted disease: 311200 OMIM #311200 OROFACIODIGITAL SYNDROME I; OFD1;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE I;;OFDS I;;PAPILLON-LEAGE AND PSAUME SYNDROME
id in db is: 288308
inserted disease: 101041 ORPHA Familial hypofibrinogenemia
id in db is: 288309
inserted disease: 603463 OMIM 603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARINGLOSS
id in db is: 288310
inserted disease: 600513 OMIM #600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1
id in db is: 288311
inserted disease: 600331 OMIM PARC SYNDROME
id in db is: 288312
inserted disease: 612813 OMIM SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE
id in db is: 288313
inserted disease: 607155 OMIM #607155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I;;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
id in db is: 288314
inserted disease: 243050 OMIM INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION
id in db is: 288315
inserted disease: 128000 OMIM DYSTELEPHALANGY
id in db is: 288316
inserted disease: 217980 OMIM %217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE;;TORIELLO-CAREY SYNDROME
id in db is: 288317
inserted disease: 181250 OMIM SCALP DEFECTS AND POSTAXIAL POLYDACTYLY
id in db is: 288318
inserted disease: 258800 OMIM ORAL SENSIBILITY, DISTURBANCE OF
id in db is: 288319
inserted disease: 220210 OMIM #220210 RITSCHER-SCHINZEL SYNDROME; RTSC;;CRANIOCEREBELLOCARDIAC DYSPLASIA;;3@C SYNDROME;;DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
id in db is: 288320
inserted disease: 267000 OMIM #267000 PERLMAN SYNDROME; PRLMNS;;RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM;;NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR
id in db is: 288321
inserted disease: 611818 OMIM #611818 LONG QT SYNDROME 9; LQT9;;LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED
id in db is: 288322
inserted disease: 613618 OMIM #613618 CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
id in db is: 288323
inserted disease: 614262 OMIM 614262 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG
id in db is: 288324
inserted disease: 614331 OMIM #614331 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6;;COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
id in db is: 288325
inserted disease: 608265 OMIM DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39
id in db is: 288326
inserted disease: 920 ORPHA Ablepharon macrostomia syndrome
id in db is: 288327
inserted disease: 612674 OMIM #612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;PHARC
id in db is: 288328
inserted disease: 99889 ORPHA Cushing syndrome due to ectopic ACTH secretion
id in db is: 288329
inserted disease: 118651 OMIM %118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE
id in db is: 288330
inserted disease: 268240 OMIM RHEUMATIC FEVER-RELATED ANTIGENRHEUMATIC FEVER, ACUTE, SUSCEPTIBILITY TO, INCLUDED
id in db is: 288331
inserted disease: 851 ORPHA Paris-Trousseau thrombocytopenia
id in db is: 288332
inserted disease: 609508 OMIM #609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR;;STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR;;STICKLER SYNDROME, ATYPICALRHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD,INCLUDED
id in db is: 288333
inserted disease: 1882 ORPHA Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
id in db is: 288334
inserted disease: 2117 ORPHA Hartsfield-Bixler-Demyer syndrome
id in db is: 288335
inserted disease: 227810 OMIM #227810 FANCONI-BICKEL SYNDROME; FBS;;HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME;;HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY;;HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIA;;FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCE;;PSEUDO-PHLORIZIN DIABETES;;GLYCOGENOSIS, FANCONI TYPE;;GLYCOGEN STORAGE DISEASE XI
id in db is: 288336
inserted disease: 608808 OMIM TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1
id in db is: 288337
inserted disease: 1145 ORPHA Infantile-onset X-linked spinal muscular atrophy
id in db is: 288338
inserted disease: 272350 OMIM SUMMITT SYNDROME
id in db is: 288339
inserted disease: 633 ORPHA Laron syndrome
id in db is: 288340
inserted disease: 136820 OMIM FUCOSIDASE, ALPHA-L, 2
id in db is: 288341
inserted disease: 143880 OMIM #143880 HYPERCALCEMIA, INFANTILE;;HYPERCALCEMIA, IDIOPATHIC, OF INFANCY
id in db is: 288342
inserted disease: 2835 ORPHA Pectus excavatum-macrocephaly-dysplastic nails syndrome
id in db is: 288343
inserted disease: 229500 OMIM FRUCTOSE AND GALACTOSE INTOLERANCE
id in db is: 288344
inserted disease: 516020 OMIM CYTOCHROME B OF COMPLEX III
id in db is: 288345
inserted disease: 109300 OMIM 109300 BANKI SYNDROME
id in db is: 288346
inserted disease: 608567 OMIM #608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1;;SINUS RHYTHM, CONGENITAL ABSENCE OF;;SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE;;SICK SINUS SYNDROME, CONGENITAL;;SINUS BRADYCARDIA SYNDROME, FAMILIAL
id in db is: 288347
inserted disease: 271110 OMIM SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY
id in db is: 288348
inserted disease: 614456 OMIM #614456 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8;;MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
id in db is: 288349
inserted disease: 604765 OMIM #604765 CARDIOMYOPATHY, DILATED, 1I; CMD1I
id in db is: 288350
inserted disease: 300220 OMIM #300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10;;CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR; CAMR;;MENTAL RETARDATION WITH CHORIOATHETOSIS AND ABNORMAL BEHAVIOR
id in db is: 288351
inserted disease: 615651 OMIM #615651 LEUKOENCEPHALOPATHY WITH ATAXIA; LKPAT
id in db is: 288352
inserted disease: 608703 OMIM %608703 SPINOCEREBELLAR ATAXIA 25; SCA25
id in db is: 288353
inserted disease: 606762 OMIM HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6
id in db is: 288354
inserted disease: 103050 OMIM #103050 ADENYLOSUCCINASE DEFICIENCY;;ADENYLOSUCCINATE LYASE DEFICIENCY;;ADSL DEFICIENCY
id in db is: 288355
inserted disease: 106500 OMIM ANNULAR ERYTHEMA
id in db is: 288356
inserted disease: 70476 ORPHA Vernal keratoconjunctivitis
id in db is: 288357
inserted disease: 616044 OMIM DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65
id in db is: 288358
inserted disease: 819 ORPHA Smith-Magenis syndrome
id in db is: 288359
inserted disease: 309630 OMIM #309630 METACARPAL 4-5 FUSION; MF4
id in db is: 288360
inserted disease: 247610 OMIM LYMPHOID INTERSTITIAL PNEUMONIA
id in db is: 288361
inserted disease: 2716 ORPHA Oculo-skeletal-renal syndrome
id in db is: 288362
inserted disease: 85293 ORPHA X-linked intellectual disability, Cabezas type
id in db is: 288363
inserted disease: 614699 OMIM #614699 IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7
id in db is: 288364
inserted disease: 611597 OMIM CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1
id in db is: 288365
inserted disease: 608091 OMIM #608091 JOUBERT SYNDROME 2; JBTS2;;CEREBELLOOCULORENAL SYNDROME 2; CORS2
id in db is: 288366
inserted disease: 274150 OMIM #274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP;;MICROANGIOPATHIC HEMOLYTIC ANEMIA;;THROMBOTIC MICROANGIOPATHY, FAMILIAL;;UPSHAW-SCHULMAN SYNDROME; USS;;SCHULMAN-UPSHAW SYNDROME;;UPSHAW FACTOR, DEFICIENCY OF;;MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL;;THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL
id in db is: 288367
inserted disease: 248200 OMIM STARGARDT DISEASE 1
id in db is: 288368
inserted disease: 610102 OMIM #610102 COMPLEMENT COMPONENT 7 DEFICIENCY; C7D;;C7 DEFICIENCY
id in db is: 288369
inserted disease: 3145 ORPHA Nephrogenic diabetes insipidus-intracranial calcification syndrome
id in db is: 288370
inserted disease: 973 ORPHA Congenital absence/hypoplasia of fingers excluding thumb, unilateral
id in db is: 288371
inserted disease: 702 ORPHA Pelizaeus-Merzbacher disease
id in db is: 288372
inserted disease: 114890 OMIM CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5
id in db is: 288373
inserted disease: 2431 ORPHA Central bilateral macrogyria
id in db is: 288374
inserted disease: 119800 OMIM #119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/ORMIRROR-IMAGE POLYDACTYLY; CCF
id in db is: 288375
inserted disease: 189990 OMIM V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG
id in db is: 288376
inserted disease: 602089 OMIM #602089 HEMANGIOMA, CAPILLARY INFANTILE;;HCI;;HEMANGIOMA, HEREDITARY CAPILLARY
id in db is: 288377
inserted disease: 609029 OMIM #609029 EMANUEL SYNDROME;;SUPERNUMERARY DER(22)t(11;22) SYNDROME
id in db is: 288378
inserted disease: 1801 ORPHA Kyphomelic dysplasia
id in db is: 288379
inserted disease: 605373 OMIM PARAGANGLIOMAS 3
id in db is: 288380
inserted disease: 615226 OMIM #615226 POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6
id in db is: 288381
inserted disease: 612124 OMIM CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
id in db is: 288382
inserted disease: 114580 OMIM CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
id in db is: 288383
inserted disease: 151380 OMIM LEUKEMIA, ACUTE MONOCYTIC
id in db is: 288384
inserted disease: 616113 OMIM POLYENDOCRINE-POLYNEUROPATHY SYNDROME; PEPNS
id in db is: 288385
inserted disease: 107500 OMIM AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION
id in db is: 288386
inserted disease: 169400 OMIM PELGER-HUET ANOMALY; PHA
id in db is: 288387
inserted disease: 615802 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42
id in db is: 288388
inserted disease: 1877 ORPHA Muscular dystrophy-white matter spongiosis syndrome
id in db is: 288389
inserted disease: 186400 OMIM SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL
id in db is: 288390
inserted disease: 79404 ORPHA Junctional epidermolysis bullosa, Herlitz type
id in db is: 288391
inserted disease: 614881 OMIM #614881 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5; DSMA5
id in db is: 288392
inserted disease: 206780 OMIM ANODONTIA OF PERMANENT DENTITION
id in db is: 288393
inserted disease: 600996 OMIM ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2
id in db is: 288394
inserted disease: 120050 OMIM %120050 COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S;;CB3S
id in db is: 288395
inserted disease: 250989 ORPHA 1q21.1 microdeletion syndrome
id in db is: 288396
inserted disease: 261534 ORPHA 49,XXXYY syndrome
id in db is: 288397
inserted disease: 778 ORPHA Rett syndrome
id in db is: 288398
inserted disease: 184700 OMIM POLYCYSTIC OVARY SYNDROME 1
id in db is: 288399
inserted disease: 602248 OMIM %602248 MALIGNANT ATROPHIC PAPULOSIS;;DEGOS DISEASE;;PAPULOSIS, MALIGNANT ATROPHIC
id in db is: 288400
inserted disease: 215510 OMIM CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY
id in db is: 288401
inserted disease: 189200 OMIM TOES, RELATIVE LENGTH OF FIRST AND SECOND
id in db is: 288402
inserted disease: 531 ORPHA Miller-Dieker syndrome
id in db is: 288403
inserted disease: 235550 OMIM HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY
id in db is: 288404
inserted disease: 83472 ORPHA CAMOS syndrome
id in db is: 288405
inserted disease: 2286 ORPHA Solitary median maxillary central incisor syndrome
id in db is: 288406
inserted disease: 148 ORPHA Multiple carboxylase deficiency
id in db is: 288407
inserted disease: 276575 ORPHA Autosomal dominant hyperinsulinism due to SUR1 deficiency
id in db is: 288408
inserted disease: 269250 OMIM #269250 SCHNECKENBECKEN DYSPLASIA;;CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
id in db is: 288409
inserted disease: 601144 OMIM BRUGADA SYNDROME 1
id in db is: 288410
inserted disease: 187500 OMIM TETRALOGY OF FALLOT
id in db is: 288411
inserted disease: 614134 OMIM #614134 STICKLER SYNDROME, TYPE IV; STL4
id in db is: 288412
inserted disease: 611377 OMIM BRACHYDACTYLY, TYPE B2
id in db is: 288413
inserted disease: 612229 OMIM COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
id in db is: 288414
inserted disease: 614858 OMIM #614858 HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA; HH14
id in db is: 288415
inserted disease: 2617 ORPHA Bird headed-dwarfism, Montreal type
id in db is: 288416
inserted disease: 166910 OMIM OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS
id in db is: 288417
inserted disease: 607936 OMIM #607936 PEELING SKIN SYNDROME 4; PSS4;;ICHTHYOSIS BULLOSA OF SIEMENS-LIKE;;ICHTHYOSIS, EXFOLIATIVE, AUTOSOMAL RECESSIVE; AREI
id in db is: 288418
inserted disease: 612631 OMIM #612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
id in db is: 288419
inserted disease: 2771 ORPHA Bruck syndrome
id in db is: 288420
inserted disease: 613800 OMIM #613800 MEIER-GORLIN SYNDROME 2; MGORS2
id in db is: 288421
inserted disease: 614815 OMIM #614815 JOUBERT SYNDROME 18; JBTS18
id in db is: 288422
inserted disease: 602097 OMIM USHER SYNDROME, TYPE IE
id in db is: 288423
inserted disease: 265950 OMIM PYLORIC ATRESIA
id in db is: 288424
inserted disease: 300155 OMIM %300155 RETINITIS PIGMENTOSA 24; RP24
id in db is: 288425
inserted disease: 263700 OMIM #263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC;;CEP;;GUNTHER DISEASE;;UROPORPHYRINOGEN III SYNTHASE DEFICIENCY;;UROS DEFICIENCY
id in db is: 288426
inserted disease: 242050 OMIM HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY
id in db is: 288427
inserted disease: 79088 ORPHA Localized lipodystrophy
id in db is: 288428
inserted disease: 185069 OMIM STORM SYNDROME
id in db is: 288429
inserted disease: 191850 OMIM URTICARIA, AQUAGENIC
id in db is: 288430
inserted disease: 260900 OMIM PERICARDIAL EFFUSION, CHRONIC
id in db is: 288431
inserted disease: 166705 OMIM OSTEOPOIKILOSIS AND DACRYOCYSTITIS
id in db is: 288432
inserted disease: 167700 OMIM PALMOMENTAL REFLEX
id in db is: 288433
inserted disease: 233300 OMIM OVARIAN DYSGENESIS 1
id in db is: 288434
inserted disease: 600907 OMIM 600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS
id in db is: 288435
inserted disease: 614676 OMIM %614676 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21; CMH21
id in db is: 288436
inserted disease: 121390 OMIM CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS
id in db is: 288437
inserted disease: 470000 OMIM RIBOSOMAL PROTEIN S4, Y-LINKED
id in db is: 288438
inserted disease: 614436 OMIM #614436 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P
id in db is: 288439
inserted disease: 615431 OMIM #615431 MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23
id in db is: 288440
inserted disease: 3301 ORPHA Tetraamelia-multiple malformations syndrome
id in db is: 288441
inserted disease: 300864 OMIM 300864 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
id in db is: 288442
inserted disease: 2840 ORPHA Pelvic dysplasia-arthrogryposis of lower limbs syndrome
id in db is: 288443
inserted disease: 607475 OMIM BOTHNIA RETINAL DYSTROPHY
id in db is: 288444
inserted disease: 312750 OMIM #312750 RETT SYNDROME; RTT;;RTS;;AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USERETT SYNDROME, ZAPPELLA VARIANT, INCLUDED;;RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED;;RETT SYNDROME, ATYPICAL, INCLUDED
id in db is: 288445
inserted disease: 608864 OMIM OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
id in db is: 288446
inserted disease: 614044 OMIM 614044 TRYPSINOGEN DEFICIENCY
id in db is: 288447
inserted disease: 1031 ORPHA Amelogenesis imperfecta-nephrocalcinosis syndrome
id in db is: 288448
inserted disease: 221780 OMIM DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH
id in db is: 288449
inserted disease: 610193 OMIM #610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 10; ARVC10
id in db is: 288450
inserted disease: 260910 OMIM PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL
id in db is: 288451
inserted disease: 144110 OMIM HYPERHIDROSIS PALMARIS ET PLANTARIS
id in db is: 288452
inserted disease: 193230 OMIM VITREORETINAL DEGENERATION, SNOWFLAKE TYPE
id in db is: 288453
inserted disease: 144100 OMIM HYPERHIDROSIS, GUSTATORY
id in db is: 288454
inserted disease: 140700 OMIM HEINZ BODY ANEMIAS
id in db is: 288455
inserted disease: 173420 OMIM PLATELET DISORDER, UNDEFINED
id in db is: 288456
inserted disease: 608931 OMIM #608931 MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY; CMS4C;;MYASTHENIC SYNDROME, CONGENITAL, TYPE Id; CMS1D, FORMERLY;;CMS Id, FORMERLY;;MYASTHENIA, FAMILIAL INFANTILE, 1, FORMERLY; FIM1, FORMERLY
id in db is: 288457
inserted disease: 305700 OMIM SERTOLI CELL-ONLY SYNDROME
id in db is: 288458
inserted disease: 797 ORPHA Sarcoidosis
id in db is: 288459
inserted disease: 146590 OMIM ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE
id in db is: 288460
inserted disease: 613180 OMIM #613180 POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
id in db is: 288461
inserted disease: 608874 OMIM #608874 OROFACIAL CLEFT 5; OFC5;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5
id in db is: 288462
inserted disease: 79503 ORPHA Ichthyosis hystrix of Curth-Macklin
id in db is: 288463
inserted disease: 147050 OMIM IgE RESPONSIVENESS, ATOPIC; IGER
id in db is: 288464
inserted disease: 600159 OMIM PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES
id in db is: 288465
inserted disease: 138930 OMIM GRANT SYNDROME
id in db is: 288466
inserted disease: 93389 ORPHA Brachydactyly type A5
id in db is: 288467
inserted disease: 614592 OMIM #614592 BENT BONE DYSPLASIA SYNDROME; BBDS
id in db is: 288468
inserted disease: 608406 OMIM 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, ANDGROWTH DEFICIENCY
id in db is: 288469
inserted disease: 1252 ORPHA Blepharonasofacial malformation syndrome
id in db is: 288470
inserted disease: 237550 OMIM HYPERBILIRUBINEMIA, CONJUGATED, TYPE III
id in db is: 288471
inserted disease: 136600 OMIM FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS
id in db is: 288472
inserted disease: 604498 OMIM AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
id in db is: 288473
inserted disease: 175750 OMIM POPLITEAL CYST
id in db is: 288474
inserted disease: 264300 OMIM 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
id in db is: 288475
inserted disease: 607485 OMIM #607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED;;FTLD-TDP, GRN-RELATED;;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED;;FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;FTLDU;;FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE; FTDU;;DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDDAPHASIA, PRIMARY PROGRESSIVE, INCLUDED; PPA, INCLUDED
id in db is: 288476
inserted disease: 615513 OMIM IMMUNODEFICIENCY 14; IMD14
id in db is: 288477
inserted disease: 300854 OMIM #300854 RENAL CELL CARCINOMA, Xp11-ASSOCIATED; RCCX1
id in db is: 288478
inserted disease: 2374 ORPHA Congenital laryngeal web
id in db is: 288479
inserted disease: 411593 ORPHA Insulin autoimmune syndrome
id in db is: 288480
inserted disease: 615399 OMIM #615399 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2; PNH2
id in db is: 288481
inserted disease: 204750 OMIM 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD
id in db is: 288482
inserted disease: 2308 ORPHA Jacobsen syndrome
id in db is: 288483
inserted disease: 608393 OMIM #608393 MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
id in db is: 288484
inserted disease: 79332 ORPHA B4GALT1-CDG
id in db is: 288485
inserted disease: 273395 OMIM #273395 TETRAAMELIA, AUTOSOMAL RECESSIVE
id in db is: 288486
inserted disease: 2579 ORPHA Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
id in db is: 288487
inserted disease: 576 ORPHA Mucolipidosis type II
id in db is: 288488
inserted disease: 605670 OMIM LATE-ONSET RETINAL DEGENERATION
id in db is: 288489
inserted disease: 613641 OMIM #613641 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB;;CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B; RI-CMTB
id in db is: 288490
inserted disease: 230839 ORPHA Ehlers-Danlos syndrome due to tenascin-X deficiency
id in db is: 288491
inserted disease: 314802 ORPHA Short stature due to partial GHR deficiency
id in db is: 288492
inserted disease: 609324 OMIM EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA
id in db is: 288493
inserted disease: 300887 OMIM #300887 APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES; APLCC
id in db is: 288494
inserted disease: 276600 OMIM TYROSINE TRANSAMINASE DEFICIENCY
id in db is: 288495
inserted disease: 614077 OMIM #614077 HERMANSKY-PUDLAK SYNDROME 8; HPS8
id in db is: 288496
inserted disease: 616361 OMIM PARKINSON DISEASE 21; PARK21
id in db is: 288497
inserted disease: 613838 OMIM #613838 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16
id in db is: 288498
inserted disease: 614067 OMIM #614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY
id in db is: 288499
inserted disease: 251510 ORPHA 46,XY partial gonadal dysgenesis
id in db is: 288500
inserted disease: 614111 OMIM #614111 PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD
id in db is: 288501
inserted disease: 613825 OMIM #613825 COMPLEMENT COMPONENT 9 DEFICIENCY; C9D;;C9 DEFICIENCY
id in db is: 288502
inserted disease: 613411 OMIM #613411 OGUCHI DISEASE 2;;NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2
id in db is: 288503
inserted disease: 185800 OMIM #185800 SYMPHALANGISM, PROXIMAL, 1A; SYM1A;;SYM1;;CUSHING SYMPHALANGISM;;HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS
id in db is: 288504
inserted disease: 251400 OMIM MICROCOLON
id in db is: 288505
inserted disease: 225250 OMIM #225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5
id in db is: 288506
inserted disease: 968 ORPHA Acromesomelic dysplasia, Hunter-Thompson type
id in db is: 288507
inserted disease: 610250 OMIM #610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31
id in db is: 288508
inserted disease: 615981 OMIM BARDET-BIEDL SYNDROME 2; BBS2
id in db is: 288509
inserted disease: 1423 ORPHA Lethal recessive chondrodysplasia
id in db is: 288510
inserted disease: 66631 ORPHA CEDNIK syndrome
id in db is: 288511
inserted disease: 607706 OMIM #607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMALRECESSIVE;;CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE;;CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMALRECESSIVE
id in db is: 288512
inserted disease: 374 ORPHA Goldenhar syndrome
id in db is: 288513
inserted disease: 1896 ORPHA EEC syndrome
id in db is: 288514
inserted disease: 193220 OMIM VITREORETINOCHOROIDOPATHY
id in db is: 288515
inserted disease: 164150 OMIM NYSTAGMUS, HEREDITARY VERTICAL
id in db is: 288516
inserted disease: 156400 OMIM METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
id in db is: 288517
inserted disease: 329228 ORPHA Microcephalic primordial dwarfism due to ZNF335 deficiency
id in db is: 288518
inserted disease: 130650 OMIM #130650 BECKWITH-WIEDEMANN SYNDROME; BWS;;EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME;;EMG SYNDROME;;WIEDEMANN-BECKWITH SYNDROME; WBSBECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED
id in db is: 288519
inserted disease: 613159 OMIM #613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1
id in db is: 288520
inserted disease: 601812 OMIM PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT
id in db is: 288521
inserted disease: 111620 OMIM #111620 RADIN BLOOD GROUP ANTIGEN; RD;;BLOOD GROUP--RADIN ANTIGEN
id in db is: 288522
inserted disease: 603855 OMIM %603855 CYSTIC FIBROSIS, MODIFIER OF, 1; CFM1MECONIUM ILEUS IN CYSTIC FIBROSIS, SUSCEPTIBILITY TO, INCLUDED
id in db is: 288523
inserted disease: 613364 OMIM %613364 SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41
id in db is: 288524
inserted disease: 616089 OMIM #616089 BLOOD GROUP, GERBICH SYSTEM; GE ;;GERBICH BLOOD GROUP SYSTEM
id in db is: 288525
inserted disease: 135900 OMIM #135900 COFFIN-SIRIS SYNDROME; CSS;;FIFTH DIGIT SYNDROME
id in db is: 288526
inserted disease: 613674 OMIM #613674 VESICOURETERAL REFLUX 3; VUR3
id in db is: 288527
inserted disease: 99827 ORPHA Crimean-Congo hemorrhagic fever
id in db is: 288528
inserted disease: 3316 ORPHA Thomas syndrome
id in db is: 288529
inserted disease: 616294 OMIM COLE-CARPENTER SYNDROME 2; CLCRP2
id in db is: 288530
inserted disease: 310500 OMIM #310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A;;CSNB, COMPLETE, X-LINKED;;NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA;;HEMERALOPIA-MYOPIA;;MYOPIA-NIGHT BLINDNESS; NBM1NYCTALOPIA, INCLUDED
id in db is: 288531
inserted disease: 190200 OMIM TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS
id in db is: 288532
inserted disease: 300614 OMIM #300614 DEAFNESS, X-LINKED 5; DFNX5;;AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY;AUNX1
id in db is: 288533
inserted disease: 268020 OMIM RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM
id in db is: 288534
inserted disease: 610357 OMIM #610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30
id in db is: 288535
inserted disease: 272120 OMIM SUDDEN INFANT DEATH SYNDROME
id in db is: 288536
inserted disease: 3332 ORPHA Hypoplastic tibiae-postaxial polydactyly syndrome
id in db is: 288537
inserted disease: 202200 OMIM #202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1;;FAMILIAL GLUCOCORTICOID DEFICIENCY 1; FGD1;;ADRENAL UNRESPONSIVENESS TO ACTH;;ACTH RESISTANCE
id in db is: 288538
inserted disease: 355 ORPHA Gaucher disease
id in db is: 288539
inserted disease: 176430 OMIM PREMATURE CHROMATID SEPARATION TRAIT
id in db is: 288540
inserted disease: 257270 OMIM #257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B;;NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE;;CSNB, COMPLETE, AUTOSOMAL RECESSIVE
id in db is: 288541
inserted disease: 214500 OMIM #214500 CHEDIAK-HIGASHI SYNDROME; CHS
id in db is: 288542
inserted disease: 614800 OMIM #614800 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH
id in db is: 288543
inserted disease: 324 ORPHA Fabry disease
id in db is: 288544
inserted disease: 278850 OMIM #278850 46,XX SEX REVERSAL 2; SRXX2;;CHROMOSOME 17Q24 DUPLICATION SYNDROME
id in db is: 288545
inserted disease: 212065 OMIM #212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A;;CDG Ia; CDGIa;;JAEKEN SYNDROME;;PHOSPHOMANNOMUTASE 2 DEFICIENCY;;CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY
id in db is: 288546
inserted disease: 783 ORPHA Rubinstein-Taybi syndrome
id in db is: 288547
inserted disease: 605258 OMIM #605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2;;HYPER-IgM SYNDROME 2
id in db is: 288548
inserted disease: 160750 OMIM MYOSITIS
id in db is: 288549
inserted disease: 2343 ORPHA Isolated cloverleaf skull syndrome
id in db is: 288550
inserted disease: 208150 OMIM FETAL AKINESIA DEFORMATION SEQUENCE; FADS
id in db is: 288551
inserted disease: 609140 OMIM #609140 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2
id in db is: 288552
inserted disease: 3130 ORPHA Satoyoshi syndrome
id in db is: 288553
inserted disease: 250994 ORPHA 1q21.1 microduplication syndrome
id in db is: 288554
inserted disease: 340 ORPHA Hemorrhagic fever-renal syndrome
id in db is: 288555
inserted disease: 1202 ORPHA Larynx atresia
id in db is: 288556
inserted disease: 214800 OMIM #214800 CHARGE SYNDROME;;CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION,GENITAL AND EAR ANOMALIES;;HALL-HITTNER SYNDROME; HHS
id in db is: 288557
inserted disease: 608636 OMIM CHROMOSOME 15q11-q13 DUPLICATION SYNDROME
id in db is: 288558
inserted disease: 612961 OMIM #612961 MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3
id in db is: 288559
inserted disease: 615686 OMIM #615686 SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63
id in db is: 288560
inserted disease: 3111 ORPHA Rotor syndrome
id in db is: 288561
inserted disease: 313200 OMIM SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
id in db is: 288562
inserted disease: 263610 OMIM POLYHYDRAMNIOS, CHRONIC IDIOPATHIC
id in db is: 288563
inserted disease: 608634 OMIM NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
id in db is: 288564
inserted disease: 616617 OMIM #616617 HEIMLER SYNDROME 2; HMLR2;;PEROXISOME BIOGENESIS DISORDER 4C; PBD4C
id in db is: 288565
inserted disease: 515000 OMIM CHLORAMPHENICOL TOXICITY
id in db is: 288566
inserted disease: 199267 ORPHA Infantile digital fibromatosis
id in db is: 288567
inserted disease: 612951 OMIM #612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
id in db is: 288568
inserted disease: 300419 OMIM #300419 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED;MRXARX;;MENTAL RETARDATION, X-LINKED 29; MRX29;;MENTAL RETARDATION, X-LINKED 32; MRX32;;MENTAL RETARDATION, X-LINKED 33; MRX33;;MENTAL RETARDATION, X-LINKED 38; MRX38;;MENTAL RETARDATION, X-LINKED 43; MRX43;;MENTAL RETARDATION, X-LINKED 54; MRX54;;MENTAL RETARDATION, X-LINKED 76; MRX76;;MENTAL RETARDATION, X-LINKED 87; MRX87
id in db is: 288569
inserted disease: 188740 OMIM #188740 TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP;;TIBIAL HEMIMELIA-POLYDACTYLY-TRIPHALANGEAL THUMBS WITH FIBULAR DIMELIA
id in db is: 288570
inserted disease: 1195 ORPHA Congenital atransferrinemia
id in db is: 288571
inserted disease: 147350 OMIM INCISORS, ROTATION OF UPPER CENTRAL
id in db is: 288572
inserted disease: 600858 OMIM CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6
id in db is: 288573
inserted disease: 268010 OMIM 268010 RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS
id in db is: 288574
inserted disease: 613848 OMIM #613848 OSTEOGENESIS IMPERFECTA, TYPE X;;OI, TYPE X; OI10
id in db is: 288575
inserted disease: 118800 OMIM #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1;;PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;;CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;;MOUNT-REBACK SYNDROME;;CHOREOATHETOSIS, NONKINESIGENIC;;DYSTONIA 8; DYT8
id in db is: 288576
inserted disease: 526 ORPHA Liddle syndrome
id in db is: 288577
inserted disease: 90797 ORPHA Partial androgen insensitivity syndrome
id in db is: 288578
inserted disease: 300624 OMIM FRAGILE X MENTAL RETARDATION SYNDROME
id in db is: 288579
inserted disease: 545 ORPHA Follicular lymphoma
id in db is: 288580
inserted disease: 155950 OMIM MELORHEOSTOSIS, ISOLATED
id in db is: 288581
inserted disease: 153700 OMIM #153700 MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2;;VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET;;VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET;;BEST MACULAR DYSTROPHY; BMD;;MACULAR DEGENERATION, POLYMORPHIC VITELLINE;;BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL
id in db is: 288582
inserted disease: 70 DECIPHER 2p15-16.1 microdeletion syndrome
id in db is: 288583
inserted disease: 606785 OMIM CRIGLER-NAJJAR SYNDROME, TYPE II
id in db is: 288584
inserted disease: 1179 ORPHA Benign paroxysmal tonic upgaze of childhood with ataxia
id in db is: 288585
inserted disease: 308940 OMIM #308940 LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS;;LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY;;ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS; ATS-DL;;CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME
id in db is: 288586
inserted disease: 2412 ORPHA Dislocation of the hip-dysmorphism syndrome
id in db is: 288587
inserted disease: 73224 ORPHA Tubular renal disease-cardiomyopathy syndrome
id in db is: 288588
inserted disease: 178370 OMIM PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT
id in db is: 288589
inserted disease: 2514 ORPHA Autosomal dominant microcephaly
id in db is: 288590
inserted disease: 601238 OMIM #601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY
id in db is: 288591
inserted disease: 615190 OMIM DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5
id in db is: 288592
inserted disease: 616468 OMIM EXUDATIVE VITREORETINOPATHY 6; EVR6
id in db is: 288593
inserted disease: 127550 OMIM #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1;;DYSKERATOSIS CONGENITA, SCOGGINS TYPE
id in db is: 288594
inserted disease: 300245 OMIM %300245 PTOSIS, HEREDITARY CONGENITAL 2;;PTOS2;;PTOSIS, X-LINKED; PTOSX
id in db is: 288595
inserted disease: 79397 ORPHA Epidermolysis bullosa simplex with mottled pigmentation
id in db is: 288596
inserted disease: 608716 OMIM #608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
id in db is: 288597
inserted disease: 616111 OMIM MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9; MC3DN9
id in db is: 288598
inserted disease: 293843 ORPHA 3MC syndrome
id in db is: 288599
inserted disease: 615228 OMIM #615228 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4;MC5DN4;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5A1 TYPE
id in db is: 288600
inserted disease: 602087 OMIM %602087 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; ARVC4
id in db is: 288601
inserted disease: 605637 OMIM MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA; MYPOP
id in db is: 288602
inserted disease: 300706 OMIM #300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST;;MENTAL RETARDATION AND MACROCEPHALY SYNDROME
id in db is: 288603
inserted disease: 602535 OMIM #602535 MARSHALL-SMITH SYNDROME; MRSHSS
id in db is: 288604
inserted disease: 308950 OMIM LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT
id in db is: 288605
inserted disease: 79278 ORPHA Autosomal erythropoietic protoporphyria
id in db is: 288606
inserted disease: 2633 ORPHA Mesomelic dwarfism, Nievergelt type
id in db is: 288607
inserted disease: 276608 ORPHA Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
id in db is: 288608
inserted disease: 601228 OMIM POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
id in db is: 288609
inserted disease: 160990 OMIM MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS
id in db is: 288610
inserted disease: 2099 ORPHA Grix-Blankenship-Peterson syndrome
id in db is: 288611
inserted disease: 121070 OMIM 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E;;CONTRACTURES OF FINGERS AND JAW
id in db is: 288612
inserted disease: 85329 ORPHA X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
id in db is: 288613
inserted disease: 232600 OMIM GLYCOGEN STORAGE DISEASE V
id in db is: 288614
inserted disease: 609943 OMIM 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES
id in db is: 288615
inserted disease: 309400 OMIM MENKES DISEASE
id in db is: 288616
inserted disease: 3042 ORPHA Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
id in db is: 288617
inserted disease: 436182 ORPHA Microcephalic primordial dwarfism-insulin resistance syndrome
id in db is: 288618
inserted disease: 210250 OMIM #210250 SITOSTEROLEMIA;;STSL;;PHYTOSTEROLEMIAMACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN, INCLUDED
id in db is: 288619
inserted disease: 215500 OMIM %215500 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1;;CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD;;CHOROIDAL SCLEROSIS
id in db is: 288620
inserted disease: 3347 ORPHA Mounier-Kühn syndrome
id in db is: 288621
inserted disease: 615696 OMIM #615696 DOWLING-DEGOS DISEASE 4; DDD4
id in db is: 288622
inserted disease: 2241 ORPHA Megacystis-microcolon-intestinal hypoperistalsis syndrome
id in db is: 288623
inserted disease: 300373 ORPHA Familial infantile gigantism
id in db is: 288624
inserted disease: 35098 ORPHA Isolated plagiocephaly
id in db is: 288625
inserted disease: 716 ORPHA Phenylketonuria
id in db is: 288626
inserted disease: 20 DECIPHER 22q13 deletion syndrome (Phelan-Mcdermid syndrome)
id in db is: 288627
inserted disease: 608232 OMIM #608232 LEUKEMIA, CHRONIC MYELOID; CML;;LEUKEMIA, CHRONIC MYELOGENOUS
id in db is: 288628
inserted disease: 608611 OMIM #608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
id in db is: 288629
inserted disease: 157400 OMIM MILIA, MULTIPLE ERUPTIVE
id in db is: 288630
inserted disease: 230900 OMIM #230900 GAUCHER DISEASE, TYPE II;;GD II;;GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE
id in db is: 288631
inserted disease: 90695 ORPHA Panhypopituitarism
id in db is: 288632
inserted disease: 252320 OMIM MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA
id in db is: 288633
inserted disease: 158025 ORPHA Hereditary progressive mucinous histiocytosis
id in db is: 288634
inserted disease: 608093 OMIM #608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J;;CDG Ij; CDGIj
id in db is: 288635
inserted disease: 613206 OMIM #613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44
id in db is: 288636
inserted disease: 93308 ORPHA Multiple epiphyseal dysplasia type 1
id in db is: 288637
inserted disease: 98375 ORPHA Autoimmune hemolytic anemia
id in db is: 288638
inserted disease: 614411 OMIM #614411 GLYCEROL QUANTITATIVE TRAIT LOCUS; GLYCQTL;;GLYCEROL RELEASE DURING EXERCISE, DEFECTIVEBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 17, INCLUDED; BMIQ17, INCLUDED
id in db is: 288639
inserted disease: 601696 OMIM NOVELTY SEEKING PERSONALITY TRAIT
id in db is: 288640
inserted disease: 614743 OMIM #614743 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2;PFBMFT2
id in db is: 288641
inserted disease: 158650 OMIM MUSCULAR ATROPHY, MALIGNANT NEUROGENIC
id in db is: 288642
inserted disease: 224250 OMIM 224250 DYSMYELINATION WITH JAUNDICE
id in db is: 288643
inserted disease: 604317 OMIM #604317 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS; MCPH2
id in db is: 288644
inserted disease: 1164 ORPHA Allergic bronchopulmonary aspergillosis
id in db is: 288645
inserted disease: 606854 OMIM POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
id in db is: 288646
inserted disease: 309583 OMIM MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
id in db is: 288647
inserted disease: 615983 OMIM BARDET-BIEDL SYNDROME 5; BBS5
id in db is: 288648
inserted disease: 3109 ORPHA Mayer-Rokitansky-Küster-Hauser syndrome
id in db is: 288649
inserted disease: 127000 OMIM #127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2;;DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;;KENNY SYNDROME
id in db is: 288650
inserted disease: 171829 ORPHA 6q16 deletion syndrome
id in db is: 288651
inserted disease: 614190 OMIM #614190 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3;;CUSHING SYNDROME, ADRENAL, DUE TO PPNAD3
id in db is: 288652
inserted disease: 607450 OMIM #607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8; ARVC8
id in db is: 288653
inserted disease: 607864 OMIM CAUDAL DUPLICATION ANOMALY
id in db is: 288654
inserted disease: 605750 OMIM EXUDATIVE VITREORETINOPATHY 3; EVR3
id in db is: 288655
inserted disease: 139300 OMIM AROMATASE EXCESS SYNDROME
id in db is: 288656
inserted disease: 137600 OMIM IRIDOGONIODYSGENESIS, TYPE 2
id in db is: 288657
inserted disease: 3176 ORPHA Spina bifida-hypospadias syndrome
id in db is: 288658
inserted disease: 93360 ORPHA Spondyloepimetaphyseal dysplasia with multiple dislocations
id in db is: 288659
inserted disease: 146350 OMIM HYPOPHOSPHATEMIC BONE DISEASE
id in db is: 288660
inserted disease: 141400 OMIM HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS
id in db is: 288661
inserted disease: 256030 OMIM NEMALINE MYOPATHY 2; NEM2
id in db is: 288662
inserted disease: 610828 OMIM HOLOPROSENCEPHALY 7
id in db is: 288663
inserted disease: 1114 ORPHA Aplasia cutis congenita
id in db is: 288664
inserted disease: 615812 OMIM ABDOMINAL OBESITY-METABOLIC SYNDROME 3; AOMS3
id in db is: 288665
inserted disease: 608175 OMIM AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
id in db is: 288666
inserted disease: 600399 OMIM %600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS
id in db is: 288667
inserted disease: 223000 OMIM LACTASE DEFICIENCY, CONGENITAL
id in db is: 288668
inserted disease: 189980 OMIM ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1
id in db is: 288669
inserted disease: 608728 OMIM #608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED;;SEMD, MATN3-RELATED
id in db is: 288670
inserted disease: 1335 ORPHA Pentalogy of Cantrell
id in db is: 288671
inserted disease: 148050 OMIM #148050 KBG SYNDROME; KBGS;;MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE,AND SKELETAL ANOMALIES
id in db is: 288672
inserted disease: 606772 OMIM %606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES;;MOMES SYNDROME
id in db is: 288673
inserted disease: 286 ORPHA Ehlers-Danlos syndrome, vascular type
id in db is: 288674
inserted disease: 2973 ORPHA 46,XX disorder of sex development-anorectal anomalies syndrome
id in db is: 288675
inserted disease: 604901 OMIM #604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC
id in db is: 288676
inserted disease: 608380 OMIM #608380 RETINITIS PIGMENTOSA 26; RP26
id in db is: 288677
inserted disease: 184 ORPHA Cherubism
id in db is: 288678
inserted disease: 3057 ORPHA Monoamine oxidase A deficiency
id in db is: 288679
inserted disease: 615607 OMIM #615607 IMMUNODEFICIENCY 17; IMD17;;CD3-GAMMA DEFICIENCY;;SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE
id in db is: 288680
inserted disease: 231095 OMIM #231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD;;GHOSAL SYNDROME
id in db is: 288681
inserted disease: 2084 ORPHA Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
id in db is: 288682
inserted disease: 200500 OMIM ACHEIROPODY ACHEIROPODIA ACHEIROPODY, BRAZILIAN TYPE
id in db is: 288683
inserted disease: 99725 ORPHA Pituitary gigantism
id in db is: 288684
inserted disease: 601351 OMIM GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMALDUCT OBSTRUCTION
id in db is: 288685
inserted disease: 615159 OMIM MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4
id in db is: 288686
inserted disease: 614 ORPHA Thomsen and Becker disease
id in db is: 288687
inserted disease: 610209 OMIM MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11
id in db is: 288688
inserted disease: 612838 OMIM #612838 BRUGADA SYNDROME 5; BRGDA5CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
id in db is: 288689
inserted disease: 615282 OMIM CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2
id in db is: 288690
inserted disease: 309640 OMIM MENTAL RETARDATION WITH SPASTIC PARAPLEGIA
id in db is: 288691
inserted disease: 600971 OMIM #600971 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6;;NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6; NSRD6
id in db is: 288692
inserted disease: 161200 OMIM #161200 NAIL-PATELLA SYNDROME; NPS;;NPS1;;ONYCHOOSTEODYSPLASIA;;TURNER-KIESER SYNDROME;;FONG DISEASE
id in db is: 288693
inserted disease: 457 ORPHA Harlequin ichthyosis
id in db is: 288694
inserted disease: 601374 OMIM APROSENCEPHALY AND CEREBELLAR DYSGENESIS
id in db is: 288695
inserted disease: 250940 OMIM #250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE; HMAG;;HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,CBLG COMPLEMENTATION TYPE;;METHYLCOBALAMIN DEFICIENCY, CBLG TYPE;;METHIONINE SYNTHASE DEFICIENCY
id in db is: 288696
inserted disease: 300946 OMIM DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14
id in db is: 288697
inserted disease: 608782 OMIM PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
id in db is: 288698
inserted disease: 3449 ORPHA Weill-Marchesani syndrome
id in db is: 288699
inserted disease: 277610 OMIM WEISSENBACHER-ZWEYMULLER SYNDROME
id in db is: 288700
inserted disease: 276556 ORPHA Hyperinsulinism due to UCP2 deficiency
id in db is: 288701
inserted disease: 615917 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20
id in db is: 288702
inserted disease: 203200 OMIM #203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2;;OCULOCUTANEOUS ALBINISM, TYPE II;;OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE;;ALBINISM IIALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED;;BROWN OCULOCUTANEOUS ALBINISM, INCLUDED
id in db is: 288703
inserted disease: 267010 OMIM #267010 MECKEL SYNDROME, TYPE 7; MKS7;;RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST;;GOLDSTON SYNDROME
id in db is: 288704
inserted disease: 1062 ORPHA Hereditary neurocutaneous malformation
id in db is: 288705
inserted disease: 220300 OMIM DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY
id in db is: 288706
inserted disease: 613582 OMIM #613582 RETINITIS PIGMENTOSA 57; RP57
id in db is: 288707
inserted disease: 228800 OMIM 228800 FIBROSCLEROSIS, MULTIFOCAL;;MEDIASTINAL FIBROSIS, FAMILIAL;;RETROPERITONEAL FIBROSIS, FAMILIAL
id in db is: 288708
inserted disease: 239711 OMIM HYPERTELORISM AND TETRALOGY OF FALLOT
id in db is: 288709
inserted disease: 616351 OMIM #616351 MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34
id in db is: 288710
inserted disease: 613756 OMIM #613756 RETINITIS PIGMENTOSA 49; RP49
id in db is: 288711
inserted disease: 108760 OMIM ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS
id in db is: 288712
inserted disease: 218200 OMIM CRANIAL NERVES, RECURRENT PARESIS OF
id in db is: 288713
inserted disease: 614674 OMIM PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
id in db is: 288714
inserted disease: 611572 OMIM OTOSCLEROSIS 7
id in db is: 288715
inserted disease: 126550 OMIM DOUGHNUT LESIONS OF SKULL, FAMILIAL
id in db is: 288716
inserted disease: 124300 OMIM DARWINIAN POINT OF PINNA
id in db is: 288717
inserted disease: 2020 ORPHA Congenital fiber-type disproportion myopathy
id in db is: 288718
inserted disease: 90340 ORPHA Blau syndrome
id in db is: 288719
inserted disease: 319600 ORPHA Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
id in db is: 288720
inserted disease: 90000 ORPHA Erythema elevatum diutinum
id in db is: 288721
inserted disease: 1454 ORPHA Joubert syndrome with hepatic defect
id in db is: 288722
inserted disease: 615433 OMIM #615433 CHROMOSOME 3q13.31 DELETION SYNDROME
id in db is: 288723
inserted disease: 607017 OMIM %607017 DEAFNESS, AUTOSOMAL DOMINANT 21; DFNA21
id in db is: 288724
inserted disease: 609646 OMIM DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 42
id in db is: 288725
inserted disease: 79301 ORPHA Congenital bile acid synthesis defect type 1
id in db is: 288726
inserted disease: 300911 OMIM #300911 PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS
id in db is: 288727
inserted disease: 602099 OMIM #602099 AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5
id in db is: 288728
inserted disease: 159100 OMIM 159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE
id in db is: 288729
inserted disease: 261344 ORPHA Trisomy 1q
id in db is: 288730
inserted disease: 612285 OMIM #612285 JOUBERT SYNDROME 9; JBTS9JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED
id in db is: 288731
inserted disease: 1727 ORPHA 22q11.2 microduplication syndrome
id in db is: 288732
inserted disease: 613743 OMIM #613743 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIALOR COMPLETE;;P450SCC DEFICIENCY
id in db is: 288733
inserted disease: 151800 OMIM LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
id in db is: 288734
inserted disease: 164185 OMIM OCULAR CICATRICIAL PEMPHIGOID
id in db is: 288735
inserted disease: 206550 OMIM ANGIOLIPOMATOSIS, FAMILIAL
id in db is: 288736
inserted disease: 601379 OMIM HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME
id in db is: 288737
inserted disease: 609549 OMIM #609549 NANOPHTHALMOS 2; NNO2;;NANOPHTHALMIA 2;;NANOPHTHALMOS, AUTOSOMAL RECESSIVE
id in db is: 288738
inserted disease: 106190 OMIM ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD
id in db is: 288739
inserted disease: 613679 OMIM #613679 PROTHROMBIN DEFICIENCY, CONGENITAL;;HYPOPROTHROMBINEMIADYSPROTHROMBINEMIA, INCLUDED
id in db is: 288740
inserted disease: 609195 OMIM SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26
id in db is: 288741
inserted disease: 108500 OMIM EPISODIC ATAXIA, TYPE 2
id in db is: 288742
inserted disease: 269000 OMIM #269000 SC PHOCOMELIA SYNDROME;;SC PSEUDOTHALIDOMIDE SYNDROME
id in db is: 288743
inserted disease: 270200 OMIM SJOGREN-LARSSON SYNDROME
id in db is: 288744
inserted disease: 208900 OMIM #208900 ATAXIA-TELANGIECTASIA; AT;;AT1;;LOUIS-BAR SYNDROMEAT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;;AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;;AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;;AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;;ATAXIA-TELANGIECTASIA VARIANT, INCLUDED
id in db is: 288745
inserted disease: 79401 ORPHA Epidermolysis bullosa simplex, Ogna type
id in db is: 288746
inserted disease: 191550 OMIM URETER, BIFID OR DOUBLE
id in db is: 288747
inserted disease: 77259 ORPHA Gaucher disease type 1
id in db is: 288748
inserted disease: 180104 OMIM #180104 RETINITIS PIGMENTOSA 9; RP9
id in db is: 288749
inserted disease: 614741 OMIM #614741 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD
id in db is: 288750
inserted disease: 602481 OMIM MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
id in db is: 288751
inserted disease: 315000 OMIM ^315000 MOVED TO 302200
id in db is: 288752
inserted disease: 352649 ORPHA Brain dopamine-serotonin vesicular transport disease
id in db is: 288753
inserted disease: 164680 OMIM 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR
id in db is: 288754
inserted disease: 607654 OMIM #607654 KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3;;STRIATE PALMOPLANTAR KERATODERMA III; SPPK3;;KERATODERMA, PALMOPLANTAR, STRIATE FORM III; KPPS3
id in db is: 288755
inserted disease: 2866 ORPHA Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
id in db is: 288756
inserted disease: 300672 OMIM #300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2;;INFANTILE SPASM SYNDROME, X-LINKED 2; ISSX2
id in db is: 288757
inserted disease: 109000 OMIM AURICULOOSTEODYSPLASIA
id in db is: 288758
inserted disease: 601376 OMIM CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONEDENSITY
id in db is: 288759
inserted disease: 85138 ORPHA Addison disease
id in db is: 288760
inserted disease: 628 ORPHA Diastrophic dwarfism
id in db is: 288761
inserted disease: 223550 OMIM DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION
id in db is: 288762
inserted disease: 97283 ORPHA Somatostatinoma
id in db is: 288763
inserted disease: 139406 ORPHA Encephalopathy due to prosaposin deficiency
id in db is: 288764
inserted disease: 224050 OMIM #224050 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1; CAMRQ1;;CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED;;CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDALLOCOMOTION 1;;CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE;;DYSEQUILIBRIUM SYNDROME; DES
id in db is: 288765
inserted disease: 253310 OMIM #253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1;;LCCS;;MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE
id in db is: 288766
inserted disease: 3360 ORPHA Trichodermal syndrome-intellectual disability syndrome
id in db is: 288767
inserted disease: 79435 ORPHA Oculocutaneous albinism type 4
id in db is: 288768
inserted disease: 250420 OMIM METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS
id in db is: 288769
inserted disease: 610422 OMIM ALOPECIA-MENTAL RETARDATION SYNDROME 2
id in db is: 288770
inserted disease: 261236 ORPHA 16p13.11 microdeletion syndrome
id in db is: 288771
inserted disease: 2695 ORPHA Bifid nose
id in db is: 288772
inserted disease: 278300 OMIM #278300 XANTHINURIA, TYPE I;;XANTHINE DEHYDROGENASE DEFICIENCY;;XDH DEFICIENCY;;XANTHINE OXIDASE DEFICIENCY
id in db is: 288773
inserted disease: 600121 OMIM RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3
id in db is: 288774
inserted disease: 79264 ORPHA Juvenile neuronal ceroid lipofuscinosis
id in db is: 288775
inserted disease: 105500 OMIM AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
id in db is: 288776
inserted disease: 602484 OMIM PELVIC DYSPLASIA - ARTHROGRYPOSIS OF LOWER LIMBS
id in db is: 288777
inserted disease: 248500 OMIM #248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA;;ALPHA-MANNOSIDOSIS;;LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY;;ALPHA-MANNOSIDASE B DEFICIENCY
id in db is: 288778
inserted disease: 1556 ORPHA Cutis marmorata telangiectatica congenita
id in db is: 288779
inserted disease: 611209 OMIM #611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G;;CDG IIg; CDGIIg;;CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME
id in db is: 288780
inserted disease: 186960 OMIM T-CELL LEUKEMIA/LYMPHOMA 1A
id in db is: 288781
inserted disease: 99927 ORPHA Hydatidiform mole
id in db is: 288782
inserted disease: 127750 OMIM DEMENTIA, LEWY BODY
id in db is: 288783
inserted disease: 615996 OMIM BARDET-BIEDL SYNDROME 19; BBS19
id in db is: 288784
inserted disease: 816 ORPHA Sjögren-Larsson syndrome
id in db is: 288785
inserted disease: 306800 OMIM HEMOPHILIA A WITH VASCULAR ABNORMALITY
id in db is: 288786
inserted disease: 239 ORPHA Dyggve-Melchior-Clausen disease
id in db is: 288787
inserted disease: 230600 OMIM #230600 GM1-GANGLIOSIDOSIS, TYPE II;;GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
id in db is: 288788
inserted disease: 1150 ORPHA Arthrogryposis multiplex congenita-whistling face syndrome
id in db is: 288789
inserted disease: 227050 OMIM TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD
id in db is: 288790
inserted disease: 276399 ORPHA Familial multinodular goiter
id in db is: 288791
inserted disease: 2255 ORPHA Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
id in db is: 288792
inserted disease: 440354 ORPHA Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
id in db is: 288793
inserted disease: 269150 OMIM #269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME;;SGS
id in db is: 288794
inserted disease: 265430 OMIM PULMONARY HYPOPLASIA, PRIMARY
id in db is: 288795
inserted disease: 2907 ORPHA Hereditary acrokeratotic poikiloderma, Weary type
id in db is: 288796
inserted disease: 130200 OMIM ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKEPHENOMENON
id in db is: 288797
inserted disease: 306950 OMIM HERNIA, ANTERIOR DIAPHRAGMATIC
id in db is: 288798
inserted disease: 312000 OMIM PANHYPOPITUITARISM, X-LINKED
id in db is: 288799
inserted disease: 309840 OMIM MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS
id in db is: 288800
inserted disease: 976 ORPHA Adenine phosphoribosyltransferase deficiency
id in db is: 288801
inserted disease: 181460 OMIM SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO
id in db is: 288802
inserted disease: 614170 OMIM #614170 BRITTLE CORNEA SYNDROME 2; BCS2
id in db is: 288803
inserted disease: 54251 ORPHA Corticosteroid-sensitive aseptic abscess syndrome
id in db is: 288804
inserted disease: 174770 OMIM %174770 ACTINIC PRURIGOPOLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE;;JUVENILE SPRING ERUPTION OF EARS, INCLUDED
id in db is: 288805
inserted disease: 427 ORPHA Familial hypoaldosteronism
id in db is: 288806
inserted disease: 223330 OMIM 223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT
id in db is: 288807
inserted disease: 300849 OMIM #300849 MENTAL RETARDATION, X-LINKED 41; MRX41;;MENTAL RETARDATION, X-LINKED 48; MRX48
id in db is: 288808
inserted disease: 1819 ORPHA Epimetaphyseal skeletal dysplasia
id in db is: 288809
inserted disease: 300495 OMIM AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
id in db is: 288810
inserted disease: 614915 OMIM LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4
id in db is: 288811
inserted disease: 602197 OMIM 602197 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3;;CDR3
id in db is: 288812
inserted disease: 615024 OMIM #615024 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10
id in db is: 288813
inserted disease: 268320 OMIM RODRIGUES BLINDNESS
id in db is: 288814
inserted disease: 249000 OMIM #249000 MECKEL SYNDROME, TYPE 1; MKS1;;MECKEL-GRUBER SYNDROME, TYPE 1;;MECKEL SYNDROME; MKS;;MES;;DYSENCEPHALIA SPLANCHNOCYSTICA;;GRUBER SYNDROME;;MECKEL-GRUBER SYNDROME
id in db is: 288815
inserted disease: 257800 OMIM OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION
id in db is: 288816
inserted disease: 302020 OMIM CALBINDIN 3
id in db is: 288817
inserted disease: 227090 OMIM ERYTHRODERMA, LETHAL CONGENITAL
id in db is: 288818
inserted disease: 324964 ORPHA Chronic recurrent multifocal osteomyelitis
id in db is: 288819
inserted disease: 108320 OMIM ARTICHOKE, MODIFICATION OF TASTE BY
id in db is: 288820
inserted disease: 223370 OMIM %223370 DUBOWITZ SYNDROME
id in db is: 288821
inserted disease: 300388 OMIM POLYMICROGYRIA, BILATERAL PERISYLVIAN
id in db is: 288822
inserted disease: 229400 OMIM %229400 FRONTOFACIONASAL DYSPLASIA;;FFND;;FRONTOFACIONASAL DYSOSTOSIS
id in db is: 288823
inserted disease: 616389 OMIM #616389 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G; CSNB1G
id in db is: 288824
inserted disease: 314360 OMIM ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET
id in db is: 288825
inserted disease: 614497 OMIM #614497 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7
id in db is: 288826
inserted disease: 1225 ORPHA Baller-Gerold syndrome
id in db is: 288827
inserted disease: 270420 OMIM #270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITALANOMALIES; DIAR3;;SODIUM DIARRHEA, CONGENITAL; CSD;;DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC
id in db is: 288828
inserted disease: 239350 OMIM HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES
id in db is: 288829
inserted disease: 1092 ORPHA Renal-genital-middle ear anomalies
id in db is: 288830
inserted disease: 189960 OMIM TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA
id in db is: 288831
inserted disease: 607501 OMIM MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4
id in db is: 288832
inserted disease: 601162 OMIM SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A
id in db is: 288833
inserted disease: 611631 OMIM EPILEPSY, FAMILIAL TEMPORAL LOBE, 4
id in db is: 288834
inserted disease: 154800 OMIM 154800 MAST CELL DISEASE;;MASTOCYTOSISURTICARIA PIGMENTOSA, INCLUDED
id in db is: 288835
inserted disease: 186740 OMIM CD3 ANTIGEN, GAMMA SUBUNIT
id in db is: 288836
inserted disease: 615067 OMIM #615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20;;CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS
id in db is: 288837
inserted disease: 1208 ORPHA Pulmonary atresia-intact ventricular septum syndrome
id in db is: 288838
inserted disease: 215850 OMIM CLEFT-LIMB-HEART MALFORMATION SYNDROME
id in db is: 288839
inserted disease: 163000 OMIM NEVI FLAMMEI, FAMILIAL MULTIPLE
id in db is: 288840
inserted disease: 236200 OMIM HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
id in db is: 288841
inserted disease: 2477 ORPHA Megalencephaly
id in db is: 288842
inserted disease: 300030 OMIM DEAFNESS, X-LINKED 3
id in db is: 288843
inserted disease: 474 ORPHA Jeune syndrome
id in db is: 288844
inserted disease: 615134 OMIM MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9
id in db is: 288845
inserted disease: 600057 OMIM EXSTROPHY OF BLADDERBLADDER EXSTROPHY AND EPISPADIAS COMPLEX, INCLUDED
id in db is: 288846
inserted disease: 613101 OMIM #613101 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5
id in db is: 288847
inserted disease: 93256 ORPHA Fragile X-associated tremor/ataxia syndrome
id in db is: 288848
inserted disease: 616172 OMIM GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9
id in db is: 288849
inserted disease: 257910 OMIM OCULOPALATOCEREBRAL SYNDROME
id in db is: 288850
inserted disease: 85322 ORPHA X-linked intellectual disability, Pai type
id in db is: 288851
inserted disease: 612953 OMIM PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14
id in db is: 288852
inserted disease: 256 ORPHA Early-onset generalized limb-onset dystonia
id in db is: 288853
inserted disease: 614280 OMIM %614280 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9; EJM9
id in db is: 288854
inserted disease: 182250 OMIM #182250 SINGLETON-MERTEN SYNDROME 1; SGMRT1
id in db is: 288855
inserted disease: 129150 OMIM ECHO VIRUS 11 SENSITIVITY
id in db is: 288856
inserted disease: 611283 OMIM #611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY;;IBD DEFICIENCY;;ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF;;ACAD8 DEFICIENCY
id in db is: 288857
inserted disease: 1263 ORPHA Boomerang dysplasia
id in db is: 288858
inserted disease: 191400 OMIM 191400 ULNA AND FIBULA, HYPOPLASIA OF;;MESOMELIC DWARFISM OF HYPOPLASTIC ULNA AND FIBULA TYPE;;REINHARDT-PFEIFFER MESOMELIC DYSPLASIA
id in db is: 288859
inserted disease: 242900 OMIM IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE
id in db is: 288860
inserted disease: 607196 OMIM #607196 MICROCEPHALY, AMISH TYPE; MCPHA;;AMISH LETHAL MICROCEPHALY;;THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE); THMD3
id in db is: 288861
inserted disease: 159595 OMIM MYELOPROLIFERATIVE SYNDROME, TRANSIENT
id in db is: 288862
inserted disease: 99852 ORPHA Ravine syndrome
id in db is: 288863
inserted disease: 203400 OMIM #203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY;;CMO I DEFICIENCY;;ALDOSTERONE DEFICIENCY I;;HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1A;;ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE;;18-@HYDROXYLASE DEFICIENCY;;STEROID 18-@HYDROXYLASE DEFICIENCY
id in db is: 288864
inserted disease: 145100 OMIM HYPERPIGMENTATION OF EYELIDS
id in db is: 288865
inserted disease: 267750 OMIM KNOBLOCH SYNDROME, TYPE I
id in db is: 288866
inserted disease: 613676 OMIM #613676 SECKEL SYNDROME 4; SCKL4
id in db is: 288867
inserted disease: 42 DECIPHER Cat-Eye Syndrome (Type I)
id in db is: 288868
inserted disease: 224230 OMIM DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1
id in db is: 288869
inserted disease: 141860 OMIM HEMOGLOBIN--ALPHA LOCUS 3
id in db is: 288870
inserted disease: 608224 OMIM DEAFNESS, AUTOSOMAL DOMINANT 41; DFNA41
id in db is: 288871
inserted disease: 614961 OMIM #614961 PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8
id in db is: 288872
inserted disease: 1054 ORPHA Aneurysm of sinus of Valsalva
id in db is: 288873
inserted disease: 133701 OMIM EXOSTOSES, MULTIPLE, TYPE II
id in db is: 288874
inserted disease: 93474 ORPHA Scheie syndrome
id in db is: 288875
inserted disease: 35612 ORPHA Nanophthalmia
id in db is: 288876
inserted disease: 812 ORPHA Sialidosis type 1
id in db is: 288877
inserted disease: 1321 ORPHA Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome
id in db is: 288878
inserted disease: 14 ORPHA Abetalipoproteinemia
id in db is: 288879
inserted disease: 136900 OMIM FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
id in db is: 288880
inserted disease: 66646 ORPHA Cutaneous mastocytosis
id in db is: 288881
inserted disease: 236680 OMIM #236680 HYDROLETHALUS SYNDROME 1; HLS1
id in db is: 288882
inserted disease: 175450 OMIM POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES
id in db is: 288883
inserted disease: 123400 OMIM CREUTZFELDT-JAKOB DISEASE
id in db is: 288884
inserted disease: 612290 OMIM #612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATEMICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, INCLUDED
id in db is: 288885
inserted disease: 266400 OMIM REESE RETINAL DYSPLASIA
id in db is: 288886
inserted disease: 112300 OMIM BOOK SYNDROME
id in db is: 288887
inserted disease: 135700 OMIM FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
id in db is: 288888
inserted disease: 212080 OMIM CARDIAC LIPIDOSIS, FAMILIAL
id in db is: 288889
inserted disease: 77297 ORPHA Majeed syndrome
id in db is: 288890
inserted disease: 278700 OMIM XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
id in db is: 288891
inserted disease: 613490 OMIM ALPHA-1-ANTITRYPSIN DEFICIENCY
id in db is: 288892
inserted disease: 220220 OMIM 220220 DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY;;DWM WITH POSTAXIAL POLYDACTYLY;;PIERQUIN SYNDROME
id in db is: 288893
inserted disease: 614185 OMIM #614185 GELEOPHYSIC DYSPLASIA 2; GPHYSD2
id in db is: 288894
inserted disease: 606824 OMIM #606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM;;MONOSACCHARIDE MALABSORPTION; GM
id in db is: 288895
inserted disease: 608096 OMIM EPILEPSY, FAMILIAL TEMPORAL LOBE
id in db is: 288896
inserted disease: 168486 ORPHA Congenital neuronal ceroid lipofuscinosis
id in db is: 288897
inserted disease: 2167 ORPHA Holzgreve-Wagner-Rehder syndrome
id in db is: 288898
inserted disease: 611497 OMIM #611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6;;OSTEOPETROSIS, AUTOSOMAL RECESSIVE, INTERMEDIATE FORM
id in db is: 288899
inserted disease: 31 ORPHA Oxoglutaricaciduria
id in db is: 288900
inserted disease: 107600 OMIM APLASIA CUTIS CONGENITA, NONSYNDROMIC
id in db is: 288901
inserted disease: 300073 OMIM FETAL AKINESIA SYNDROME, X-LINKED
id in db is: 288902
inserted disease: 600195 OMIM VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
id in db is: 288903
inserted disease: 119900 OMIM CLUBBING OF DIGITS
id in db is: 288904
inserted disease: 50944 ORPHA Schöpf-Schulz-Passarge syndrome
id in db is: 288905
inserted disease: 600802 OMIM #600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-POSITIVE, NK CELL-NEGATIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
id in db is: 288906
inserted disease: 42642 ORPHA PFAPA syndrome
id in db is: 288907
inserted disease: 912 ORPHA Zellweger syndrome
id in db is: 288908
inserted disease: 613951 OMIM FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP
id in db is: 288909
inserted disease: 2184 ORPHA Hydrocephaly-low insertion umbilicus syndrome
id in db is: 288910
inserted disease: 615922 OMIM RETINITIS PIGMENTOSA 70; RP70
id in db is: 288911
inserted disease: 600628 OMIM 600628 LOOSE ANAGEN HAIR SYNDROME
id in db is: 288912
inserted disease: 613456 OMIM #613456 FRONTONASAL DYSPLASIA 3; FND3
id in db is: 288913
inserted disease: 606867 OMIM *606867 GOLGI REASSEMBLY STACKING PROTEIN 1; GORASP1;;GOLGI PHOSPHOPROTEIN 5; GOLPH5;;GOLGI REASSEMBLY AND STACKING PROTEIN, 65-KD; GRASP65;;GOLGI PERIPHERAL MEMBRANE PROTEIN P65; P65
id in db is: 288914
inserted disease: 601666 OMIM %601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15;;INSULIN-DEPENDENT DIABETES MELLITUS 15
id in db is: 288915
inserted disease: 114100 OMIM %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET
id in db is: 288916
inserted disease: 609821 OMIM BLEEDING DISORDER DUE TO P2RY12 DEFECT
id in db is: 288917
inserted disease: 616346 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31
id in db is: 288918
inserted disease: 208155 OMIM ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE
id in db is: 288919
inserted disease: 143850 OMIM ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
id in db is: 288920
inserted disease: 2710 ORPHA Oculodentodigital dysplasia
id in db is: 288921
inserted disease: 612913 OMIM OROFACIODIGITAL SYNDROME XI; OFD11
id in db is: 288922
inserted disease: 1180 ORPHA Ataxia-hypogonadism-choroidal dystrophy syndrome
id in db is: 288923
inserted disease: 600668 OMIM CHONDROCALCINOSIS 1
id in db is: 288924
inserted disease: 1037 ORPHA Arthrogryposis multiplex congenita
id in db is: 288925
inserted disease: 112450 OMIM 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION;;CHRISTIAN BRACHYDACTYLY
id in db is: 288926
inserted disease: 66629 ORPHA Goldberg-Shprintzen megacolon syndrome
id in db is: 288927
inserted disease: 187600 OMIM THANATOPHORIC DYSPLASIA, TYPE I
id in db is: 288928
inserted disease: 219750 OMIM #219750 CYSTINOSIS, ADULT NONNEPHROPATHIC;;CYSTINOSIS, OCULAR NONNEPHROPATHIC;;CYSTINOSIS, BENIGN NONNEPHROPATHIC
id in db is: 288929
inserted disease: 614927 OMIM %614927 ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5
id in db is: 288930
inserted disease: 53719 ORPHA Wyburn-Mason syndrome
id in db is: 288931
inserted disease: 99015 ORPHA Spastic paraplegia type 2
id in db is: 288932
inserted disease: 137400 OMIM GEOGRAPHIC TONGUE AND FISSURED TONGUEGLOSSITIS, BENIGN MIGRATORY, INCLUDED
id in db is: 288933
inserted disease: 305390 OMIM #305390 EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2;;EVRX;;FEVR, X-LINKED; FEVRX
id in db is: 288934
inserted disease: 309510 OMIM #309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS;;PARTINGTON SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 1; MRXS1;;MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, ANDSEIZURES;;MENTAL RETARDATION, X-LINKED 36; MRX36
id in db is: 288935
inserted disease: 369 ORPHA Glycogen storage disease due to liver glycogen phosphorylase deficiency
id in db is: 288936
inserted disease: 122900 OMIM 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA;;OSTEOSCLEROSIS, STANESCU TYPE
id in db is: 288937
inserted disease: 97279 ORPHA Insulinoma
id in db is: 288938
inserted disease: 249620 OMIM MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS,AND HYPOPLASTIC TEETH
id in db is: 288939
inserted disease: 2719 ORPHA Oculocerebral hypopigmentation syndrome, Cross type
id in db is: 288940
inserted disease: 607944 OMIM #607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI;;COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEALDYSPLASIA
id in db is: 288941
inserted disease: 259900 OMIM #259900 HYPEROXALURIA, PRIMARY, TYPE I; HP1;;OXALOSIS I;;GLYCOLIC ACIDURIA;;ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY;;PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY;;HEPATIC AGT DEFICIENCY;;SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY
id in db is: 288942
inserted disease: 251880 OMIM #251880 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3
id in db is: 288943
inserted disease: 600625 OMIM OROFACIAL CLEFT 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED CONGENITAL HEALED CLEFT LIP, INCLUDED
id in db is: 288944
inserted disease: 607685 OMIM HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC
id in db is: 288945
inserted disease: 85414 ORPHA Systemic-onset juvenile idiopathic arthritis
id in db is: 288946
inserted disease: 516050 OMIM CYTOCHROME C OXIDASE III
id in db is: 288947
inserted disease: 241120 OMIM HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES
id in db is: 288948
inserted disease: 271250 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
id in db is: 288949
inserted disease: 612999 OMIM #612999 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5
id in db is: 288950
inserted disease: 897 ORPHA Waardenburg-Shah syndrome
id in db is: 288951
inserted disease: 605013 OMIM MICROHYDRANENCEPHALY; MHAC
id in db is: 288952
inserted disease: 302350 OMIM #302350 NANCE-HORAN SYNDROME; NHS;;CATARACT-DENTAL SYNDROME;;CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH;;MESIODENS-CATARACT SYNDROME
id in db is: 288953
inserted disease: 614753 OMIM #614753 SOTOS SYNDROME 2; SOTOS2
id in db is: 288954
inserted disease: 98292 ORPHA Mastocytosis
id in db is: 288955
inserted disease: 47 DECIPHER RCAD (renal cysts and diabetes)
id in db is: 288956
inserted disease: 612666 OMIM DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK
id in db is: 288957
inserted disease: 243800 OMIM #243800 JOHANSON-BLIZZARD SYNDROME; JBS;;NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITALDEAFNESS
id in db is: 288958
inserted disease: 168 ORPHA Loose anagen syndrome
id in db is: 288959
inserted disease: 113310 OMIM BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA
id in db is: 288960
inserted disease: 612925 OMIM #612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5;;AHUS, SUSCEPTIBILITY TO, 5
id in db is: 288961
inserted disease: 611102 OMIM DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY
id in db is: 288962
inserted disease: 613731 OMIM RETINITIS PIGMENTOSA 4
id in db is: 288963
inserted disease: 95716 ORPHA Familial thyroid dyshormonogenesis
id in db is: 288964
inserted disease: 314980 OMIM ZINC FINGER PROTEIN, X-LINKED
id in db is: 288965
inserted disease: 615663 OMIM #615663 WARBURG MICRO SYNDROME 4; WARBM4
id in db is: 288966
inserted disease: 300519 OMIM #300519 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; MRXSMP;;MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME
id in db is: 288967
inserted disease: 2678 ORPHA Neurofibromatosis type 6
id in db is: 288968
inserted disease: 302060 OMIM #302060 BARTH SYNDROME; BTHS;;CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA;;3-@METHYLGLUTACONIC ACIDURIA, TYPE II; MGCA2;;MGA, TYPE II; MGA2
id in db is: 288969
inserted disease: 607483 OMIM #607483 THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVETYPE); THMD2;;BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE; BBGD;;ENCEPHALOPATHY, THIAMINE-RESPONSIVE
id in db is: 288970
inserted disease: 607831 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K
id in db is: 288971
inserted disease: 601492 OMIM MUCOPOLYSACCHARIDOSIS TYPE IX
id in db is: 288972
inserted disease: 215700 OMIM CITRULLINEMIA, CLASSIC
id in db is: 288973
inserted disease: 2338 ORPHA Isolated punctate palmoplantar keratoderma
id in db is: 288974
inserted disease: 3180 ORPHA Spondylocamptodactyly syndrome
id in db is: 288975
inserted disease: 86309 ORPHA DPAGT1-CDG
id in db is: 288976
inserted disease: 608664 OMIM %608664 SECKEL SYNDROME 3; SCKL3
id in db is: 288977
inserted disease: 614069 OMIM #614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2; ICF2
id in db is: 288978
inserted disease: 2774 ORPHA Multicentric carpo-tarsal osteolysis with or without nephropathy
id in db is: 288979
inserted disease: 108650 OMIM %108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA
id in db is: 288980
inserted disease: 243150 OMIM #243150 GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME; GIDID;;INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITHOR WITHOUT IMMUNODEFICIENCY;;INTESTINAL ATRESIA, MULTIPLE; MINAT;;FAMILIAL INTESTINAL POLYATRESIA SYNDROME; FIPA
id in db is: 288981
inserted disease: 613270 OMIM #613270 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6;;CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
id in db is: 288982
inserted disease: 129000 OMIM EARRING HOLES, NATURAL
id in db is: 288983
inserted disease: 177000 OMIM PROTOPORPHYRIA, ERYTHROPOIETIC
id in db is: 288984
inserted disease: 300360 OMIM %300360 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE;;MRSS
id in db is: 288985
inserted disease: 613789 OMIM #613789 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2;;C8 DEFICIENCY, TYPE II;;COMPLEMENT COMPONENT 8B DEFICIENCY;;C8 BETA DEFICIENCY;;C8B DEFICIENCY
id in db is: 288986
inserted disease: 616059 OMIM MIRROR MOVEMENTS 3; MRMV3
id in db is: 288987
inserted disease: 601067 OMIM USHER SYNDROME, TYPE ID
id in db is: 288988
inserted disease: 255160 OMIM #255160 MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB;;MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE
id in db is: 288989
inserted disease: 48104 ORPHA Pyoderma gangrenosum
id in db is: 288990
inserted disease: 612794 OMIM #612794 ATRIAL SEPTAL DEFECT 5; ASD5
id in db is: 288991
inserted disease: 612956 OMIM VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2
id in db is: 288992
inserted disease: 114480 OMIM #114480 BREAST CANCER;;BREAST CANCER, FAMILIALBREAST CANCER, FAMILIAL MALE, INCLUDED
id in db is: 288993
inserted disease: 1389 ORPHA Cortical blindness-intellectual disability-polydactyly syndrome
id in db is: 288994
inserted disease: 310600 OMIM #310600 NORRIE DISEASE; ND;;ATROPHIA BULBORUM HEREDITARIA;;EPISKOPI BLINDNESS
id in db is: 288995
inserted disease: 607015 OMIM #607015 HURLER-SCHEIE SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH/S; MPS1-HS
id in db is: 288996
inserted disease: 603622 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17
id in db is: 288997
inserted disease: 482 ORPHA Kimura disease
id in db is: 288998
inserted disease: 173650 OMIM KINDLER SYNDROME
id in db is: 288999
inserted disease: 261279 ORPHA 17q23.1q23.2 microdeletion syndrome
id in db is: 289000
inserted disease: 79230 ORPHA Hemochromatosis type 2
id in db is: 289001
inserted disease: 1473 ORPHA Uveal coloboma-cleft lip and palate-intellectual disability
id in db is: 289002
inserted disease: 615528 OMIM #615528 PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19
id in db is: 289003
inserted disease: 306498 ORPHA PTEN hamartoma tumor syndrome
id in db is: 289004
inserted disease: 1522 ORPHA Craniometaphyseal dysplasia
id in db is: 289005
inserted disease: 309108 ORPHA Pancreatic colipase deficiency
id in db is: 289006
inserted disease: 440713 ORPHA Isolated sedoheptulokinase deficiency
id in db is: 289007
inserted disease: 182601 OMIM #182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4;;FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2; FSP2
id in db is: 289008
inserted disease: 616028 OMIM ADAMS-OLIVER SYNDROME 5; AOS5
id in db is: 289009
inserted disease: 226800 OMIM EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION
id in db is: 289010
inserted disease: 95 ORPHA Friedreich ataxia
id in db is: 289011
inserted disease: 203550 OMIM ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME
id in db is: 289012
inserted disease: 614494 OMIM %614494 RETINITIS PIGMENTOSA 63; RP63
id in db is: 289013
inserted disease: 616187 OMIM EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7
id in db is: 289014
inserted disease: 191440 OMIM ULNAR HYPOPLASIA
id in db is: 289015
inserted disease: 1313 ORPHA Infantile choroidocerebral calcification syndrome
id in db is: 289016
inserted disease: 79477 ORPHA Griscelli disease type 2
id in db is: 289017
inserted disease: 193005 OMIM VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE
id in db is: 289018
inserted disease: 159555 OMIM LYSINE-SPECIFIC METHYLTRANSFERASE 2A; KMT2A
id in db is: 289019
inserted disease: 188770 OMIM TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY
id in db is: 289020
inserted disease: 268100 OMIM #268100 ENHANCED S-CONE SYNDROME; ESCSGOLDMANN-FAVRE SYNDROME, INCLUDED;;RETINOSCHISIS WITH EARLY HEMERALOPIA, INCLUDED;;FAVRE HYALOIDEORETINAL DEGENERATION, INCLUDED
id in db is: 289021
inserted disease: 300770 OMIM #300770 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4;;PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4;;PAP DUE TO CSF2RA DEFICIENCY;;CSF2RA DEFICIENCY
id in db is: 289022
inserted disease: 600791 OMIM ENLARGED VESTIBULAR AQUEDUCT
id in db is: 289023
inserted disease: 435638 ORPHA 3p25.3 microdeletion syndrome
id in db is: 289024
inserted disease: 170900 OMIM PERNICIOUS ANEMIA
id in db is: 289025
inserted disease: 2614 ORPHA Nail-patella syndrome
id in db is: 289026
inserted disease: 613282 OMIM %613282 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1; NAFLD1LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1, INCLUDED
id in db is: 289027
inserted disease: 131100 OMIM #131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1;;MEN I;;ENDOCRINE ADENOMATOSIS, MULTIPLE;;MEA I;;WERMER SYNDROMEMEN1 SOMATIC MUTATIONS, INCLUDED
id in db is: 289028
inserted disease: 606693 OMIM #606693 KUFOR-RAKEB SYNDROME; KRS;;PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE; PARK9;;PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS ANDDEMENTIA; KRPPDCEROID LIPOFUSCINOSIS, NEURONAL, 12, INCLUDED; CLN12, INCLUDED
id in db is: 289029
inserted disease: 256020 OMIM 256020 NAIL-PATELLA-LIKE RENAL DISEASE;;GLOMERULAR BASEMENT MEMBRANE DISEASE, NAIL-PATELLA SYNDROME TYPE
id in db is: 289030
inserted disease: 610954 OMIM #610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION
id in db is: 289031
inserted disease: 3305 ORPHA Tetraploidy
id in db is: 289032
inserted disease: 313350 OMIM SPLIT-HAND/FOOT MALFORMATION 2
id in db is: 289033
inserted disease: 22 ORPHA Succinic semialdehyde dehydrogenase deficiency
id in db is: 289034
inserted disease: 300534 OMIM #300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; MRXSJ
id in db is: 289035
inserted disease: 610153 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 49
id in db is: 289036
inserted disease: 612782 OMIM #612782 IMMUNODEFICIENCY 9; IMD9;;IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT1
id in db is: 289037
inserted disease: 1133 ORPHA AREDYLD syndrome
id in db is: 289038
inserted disease: 608227 OMIM 608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRALNEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION
id in db is: 289039
inserted disease: 609222 OMIM DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT
id in db is: 289040
inserted disease: 1598 ORPHA Monosomy 18p
id in db is: 289041
inserted disease: 121270 OMIM COPPER DEFICIENCY, FAMILIAL BENIGN
id in db is: 289042
inserted disease: 2289 ORPHA Neuronal intranuclear inclusion disease
id in db is: 289043
inserted disease: 228312 ORPHA Autoimmune hemolytic anemia, cold type
id in db is: 289044
inserted disease: 601187 OMIM GURRIERI SYNDROME
id in db is: 289045
inserted disease: 1192 ORPHA Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
id in db is: 289046
inserted disease: 147060 OMIM #147060 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT;;HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT;;HIES, AUTOSOMAL DOMINANT;;JOB SYNDROME
id in db is: 289047
inserted disease: 613477 OMIM #613477 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5
id in db is: 289048
inserted disease: 193250 OMIM %193250 VOLVULUS OF MIDGUT;;INTESTINAL MALROTATION, FAMILIAL
id in db is: 289049
inserted disease: 653 ORPHA Multiple endocrine neoplasia type 2
id in db is: 289050
inserted disease: 2807 ORPHA Papilloma of choroid plexus
id in db is: 289051
inserted disease: 208250 OMIM CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
id in db is: 289052
inserted disease: 204850 OMIM AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION
id in db is: 289053
inserted disease: 608022 OMIM #608022 DIAPHANOSPONDYLODYSOSTOSIS;;VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS
id in db is: 289054
inserted disease: 175780 OMIM #175780 PORENCEPHALY 1; POREN1;;HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1; T1P;;PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT; ADT1P
id in db is: 289055
inserted disease: 615369 OMIM #615369 EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC
id in db is: 289056
inserted disease: 614940 OMIM #614940 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALDOMINANT; ECTD11A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED
id in db is: 289057
inserted disease: 2298 ORPHA Insulin-resistance syndrome type B
id in db is: 289058
inserted disease: 133690 OMIM EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E
id in db is: 289059
inserted disease: 193240 OMIM VOCAL CORD PARALYSIS AND PTOSIS
id in db is: 289060
inserted disease: 300834 OMIM #300834 MACULAR DEGENERATION, X-LINKED ATROPHIC
id in db is: 289061
inserted disease: 603 ORPHA Distal myopathy, Welander type
id in db is: 289062
inserted disease: 612580 OMIM #612580 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3
id in db is: 289063
inserted disease: 99027 ORPHA Adult-onset autosomal dominant leukodystrophy
id in db is: 289064
inserted disease: 614900 OMIM DIAMOND-BLACKFAN ANEMIA 11; DBA11
id in db is: 289065
inserted disease: 276710 OMIM #276710 TYROSINEMIA, TYPE III; TYRSN3;;4-@HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY;;4-@HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY
id in db is: 289066
inserted disease: 605967 OMIM %605967 ACROPECTORAL SYNDROME; ACRPS;;ACRP SYNDROME;;SYNDACTYLY, PREAXIAL POLYDACTYLY, AND STERNAL DEFORMITY
id in db is: 289067
inserted disease: 111400 OMIM #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
id in db is: 289068
inserted disease: 613978 OMIM #613978 HEMOGLOBIN H DISEASE; HBH;;ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE;;HEMOGLOBIN H DISEASE, DELETIONALHEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
id in db is: 289069
inserted disease: 613150 OMIM #613150 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2; MDDGA2;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
id in db is: 289070
inserted disease: 163634 ORPHA Maffucci syndrome
id in db is: 289071
inserted disease: 123740 OMIM CRYSTALLIN, MU; CRYM
id in db is: 289072
inserted disease: 610163 OMIM #610163 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA
id in db is: 289073
inserted disease: 163966 ORPHA X-linked dominant chondrodysplasia, Chassaing-Lacombe type
id in db is: 289074
inserted disease: 2824 ORPHA Paraplegia-intellectual disability-hyperkeratosis syndrome
id in db is: 289075
inserted disease: 125635 OMIM DERMOGRAPHISM, FAMILIAL
id in db is: 289076
inserted disease: 168800 OMIM PAROTIDOMEGALY, HEREDITARY BILATERAL
id in db is: 289077
inserted disease: 3386 ORPHA American trypanosomiasis
id in db is: 289078
inserted disease: 614328 OMIM #614328 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL; NISBD
id in db is: 289079
inserted disease: 616006 OMIM HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2
id in db is: 289080
inserted disease: 615008 OMIM #615008 NEPHROTIC SYNDROME, TYPE 7; NPHS7;;NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITISHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7, INCLUDED;AHUS7, INCLUDED;;AHUS, SUSCEPTIBILITY TO, 7, INCLUDED
id in db is: 289081
inserted disease: 144200 OMIM PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
id in db is: 289082
inserted disease: 900 ORPHA Granulomatosis with polyangiitis
id in db is: 289083
inserted disease: 33110 ORPHA Autosomal agammaglobulinemia
id in db is: 289084
inserted disease: 601321 OMIM #601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS;;NOONAN-NEUROFIBROMATOSIS SYNDROME;;NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE
id in db is: 289085
inserted disease: 301050 OMIM ALPORT SYNDROME, X-LINKED; ATS
id in db is: 289086
inserted disease: 301040 OMIM #301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE;;ATR-X SYNDROME;;ATR, NONDELETION TYPE
id in db is: 289087
inserted disease: 235000 OMIM HEMIHYPERPLASIA, ISOLATED
id in db is: 289088
inserted disease: 614482 OMIM #614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND
id in db is: 289089
inserted disease: 33314 ORPHA Jessner's lymphocytic infiltration of the skin
id in db is: 289090
inserted disease: 139414 ORPHA Congenital panfollicular nevus
id in db is: 289091
inserted disease: 85163 ORPHA Hypomyelination-congenital cataract syndrome
id in db is: 289092
inserted disease: 259600 OMIM TORG-WINCHESTER SYNDROME
id in db is: 289093
inserted disease: 190420 OMIM TRIGLYCERIDE STORAGE DISEASE, TYPE I
id in db is: 289094
inserted disease: 234500 OMIM HARTNUP DISORDER
id in db is: 289095
inserted disease: 611943 OMIM #611943 RIDDLE SYNDROME;;RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNINGDIFFICULTIES
id in db is: 289096
inserted disease: 75389 ORPHA Brain malformation-congenital heart disease-postaxial polydactyly syndrome
id in db is: 289097
inserted disease: 127300 OMIM LERI-WEILL DYSCHONDROSTEOSIS
id in db is: 289098
inserted disease: 607398 OMIM #607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2;;FAMILIAL GLUCOCORTICOID DEFICIENCY 2; FGD2
id in db is: 289099
inserted disease: 168491 ORPHA Late infantile neuronal ceroid lipofuscinosis
id in db is: 289100
inserted disease: 2305 ORPHA Isotretinoin syndrome
id in db is: 289101
inserted disease: 615486 OMIM INTERSTITIAL LUNG AND LIVER DISEASE; ILLD
id in db is: 289102
inserted disease: 432 ORPHA Normosmic congenital hypogonadotropic hypogonadism
id in db is: 289103
inserted disease: 609060 OMIM #609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1;;HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
id in db is: 289104
inserted disease: 614508 OMIM #614508 MIRROR MOVEMENTS 2; MRMV2
id in db is: 289105
inserted disease: 123700 OMIM #123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
id in db is: 289106
inserted disease: 150699 OMIM #150699 LEIOMYOMA, UTERINE; UL
id in db is: 289107
inserted disease: 300373 OMIM OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
id in db is: 289108
inserted disease: 255120 OMIM #255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY;;CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY;;CPT I DEFICIENCY;;CPT DEFICIENCY, HEPATIC, TYPE I
id in db is: 289109
inserted disease: 609180 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F
id in db is: 289110
inserted disease: 116790 OMIM CATECHOL-O-METHYLTRANSFERASE
id in db is: 289111
inserted disease: 244600 OMIM KERATOCONUS POSTICUS CIRCUMSCRIPTUS
id in db is: 289112
inserted disease: 300088 OMIM EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
id in db is: 289113
inserted disease: 613988 OMIM #613988 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3; DKCB3
id in db is: 289114
inserted disease: 616331 OMIM ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2
id in db is: 289115
inserted disease: 85334 ORPHA X-linked neurodegenerative syndrome, Bertini type
id in db is: 289116
inserted disease: 249670 OMIM MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION
id in db is: 289117
inserted disease: 612336 OMIM THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL
id in db is: 289118
inserted disease: 271220 OMIM SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL
id in db is: 289119
inserted disease: 304050 OMIM %304050 AICARDI SYNDROME; AIC;;CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY
id in db is: 289120
inserted disease: 610444 OMIM #610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3;;NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE
id in db is: 289121
inserted disease: 1970 ORPHA Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
id in db is: 289122
inserted disease: 596 ORPHA X-linked centronuclear myopathy
id in db is: 289123
inserted disease: 728 ORPHA Relapsing polychondritis
id in db is: 289124
inserted disease: 203100 OMIM #203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A;;OCULOCUTANEOUS ALBINISM, TYPE I; OCA1;;ALBINISM I;;OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE; ATN
id in db is: 289125
inserted disease: 614157 OMIM NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10; NDNC10
id in db is: 289126
inserted disease: 614615 OMIM #614615 JOUBERT SYNDROME 17; JBTS17
id in db is: 289127
inserted disease: 615761 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23
id in db is: 289128
inserted disease: 104600 OMIM 104600 AMENORRHEA-GALACTORRHEA SYNDROME
id in db is: 289129
inserted disease: 164170 OMIM NYSTAGMUS, VOLUNTARY
id in db is: 289130
inserted disease: 604348 OMIM ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1; FASPS1
id in db is: 289131
inserted disease: 2686 ORPHA Cyclic neutropenia
id in db is: 289132
inserted disease: 166024 ORPHA Multiple epiphyseal dysplasia, Al-Gazali type
id in db is: 289133
inserted disease: 616321 OMIM MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A
id in db is: 289134
inserted disease: 277400 OMIM #277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE;;METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblC TYPE;;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, VITAMIN B12-RESPONSIVE;;VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoAMUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE
id in db is: 289135
inserted disease: 2377 ORPHA Laurence-Moon syndrome
id in db is: 289136
inserted disease: 613792 OMIM #613792 CHROMOSOME 3pter-p25 DELETION SYNDROME;;3p- SYNDROME
id in db is: 289137
inserted disease: 99878 ORPHA Primary parathyroid hyperplasia
id in db is: 289138
inserted disease: 608569 OMIM #608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O;;CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
id in db is: 289139
inserted disease: 259610 OMIM 259610 OSTEOLYSIS SYNDROME, RECESSIVE;;OSTEOLYSIS, DISTAL, WITH SHORT STATURE, MENTAL RETARDATION, AND CHARACTERISTICFACIAL APPEARANCE
id in db is: 289140
inserted disease: 507 ORPHA Leishmaniasis
id in db is: 289141
inserted disease: 115000 OMIM CARDIAC ARRHYTHMIA
id in db is: 289142
inserted disease: 1517 ORPHA Hypertrichotic osteochondrodysplasia, Cantu type
id in db is: 289143
inserted disease: 114150 OMIM CAMPTOBRACHYDACTYLY
id in db is: 289144
inserted disease: 888 ORPHA Van der Woude syndrome
id in db is: 289145
inserted disease: 300048 OMIM #300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED;;IPOX;;CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; CIIP;;CIIP, X-LINKED; CIIPX;;INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRALNERVOUS SYSTEM INVOLVEMENTCONGENITAL SHORT BOWEL SYNDROME, INCLUDED; CSBS, INCLUDED
id in db is: 289146
inserted disease: 156 ORPHA Carnitine palmitoyl transferase 1A deficiency
id in db is: 289147
inserted disease: 615937 OMIM MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2
id in db is: 289148
inserted disease: 616507 OMIM OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17
id in db is: 289149
inserted disease: 606183 OMIM LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY
id in db is: 289150
inserted disease: 615751 OMIM CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD
id in db is: 289151
inserted disease: 168816 ORPHA Peritoneal cystic mesothelioma
id in db is: 289152
inserted disease: 614292 OMIM #614292 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD
id in db is: 289153
inserted disease: 168830 OMIM 168830 PASSOVOY FACTOR DEFECT
id in db is: 289154
inserted disease: 276900 OMIM #276900 USHER SYNDROME, TYPE I; USH1;;US1;;RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESSUSHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED;;USHER SYNDROME, TYPE IA, FORMERLY, INCLUDED; USH1A, FORMERLY, INCLUDED;;USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY, INCLUDED
id in db is: 289155
inserted disease: 190430 OMIM TRIGLYCERIDE STORAGE DISEASE, TYPE II
id in db is: 289156
inserted disease: 165098 OMIM OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION
id in db is: 289157
inserted disease: 667 ORPHA Autosomal recessive malignant osteopetrosis
id in db is: 289158
inserted disease: 615947 OMIM HYPERLIPOPROTEINEMIA, TYPE ID
id in db is: 289159
inserted disease: 1530 ORPHA Craniosynostosis-cataract syndrome
id in db is: 289160
inserted disease: 232300 OMIM GLYCOGEN STORAGE DISEASE II
id in db is: 289161
inserted disease: 616056 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26
id in db is: 289162
inserted disease: 156500 OMIM #156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS;;SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
id in db is: 289163
inserted disease: 139750 OMIM 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES
id in db is: 289164
inserted disease: 600631 OMIM %600631 ENURESIS, NOCTURNAL, 1; ENUR1;;BEDWETTING
id in db is: 289165
inserted disease: 301000 OMIM #301000 WISKOTT-ALDRICH SYNDROME; WAS;;WISKOTT-ALDRICH SYNDROME 1; WAS1;;ALDRICH SYNDROME;;ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME;;IMMUNODEFICIENCY 2; IMD2
id in db is: 289166
inserted disease: 615763 OMIM CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5
id in db is: 289167
inserted disease: 950 ORPHA Acrodysostosis
id in db is: 289168
inserted disease: 228371 ORPHA Foodborne botulism
id in db is: 289169
inserted disease: 988 ORPHA Absent tibia-polydactyly syndrome
id in db is: 289170
inserted disease: 609057 OMIM #609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
id in db is: 289171
inserted disease: 119600 OMIM #119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
id in db is: 289172
inserted disease: 91347 ORPHA TSH-secreting pituitary adenoma
id in db is: 289173
inserted disease: 600316 OMIM DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3
id in db is: 289174
inserted disease: 236690 OMIM HYDROCEPHALUS, NORMAL-PRESSURE
id in db is: 289175
inserted disease: 81 ORPHA Antisynthetase syndrome
id in db is: 289176
inserted disease: 212050 OMIM #212050 CANDIDIASIS, FAMILIAL, 2; CANDF2;;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE;;CARD9 IMMUNODEFICIENCY
id in db is: 289177
inserted disease: 610015 OMIM #610015 GLUTAMINE DEFICIENCY, CONGENITAL;;GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC
id in db is: 289178
inserted disease: 52417 ORPHA MALT lymphoma
id in db is: 289179
inserted disease: 612644 OMIM #612644 DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B
id in db is: 289180
inserted disease: 187750 OMIM THORACIC DYSOSTOSIS, ISOLATED
id in db is: 289181
inserted disease: 611808 OMIM TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS
id in db is: 289182
inserted disease: 613157 OMIM #613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O; LGMD2O;;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
id in db is: 289183
inserted disease: 2438 ORPHA Hand-foot-genital syndrome
id in db is: 289184
inserted disease: 178350 OMIM PUBIC BONE DYSPLASIA
id in db is: 289185
inserted disease: 214400 OMIM CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A
id in db is: 289186
inserted disease: 309500 OMIM #309500 RENPENNING SYNDROME 1; RENS1;;MENTAL RETARDATION, X-LINKED, RENPENNING TYPE;;SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS;;GOLABI-ITO-HALL SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 8; MRXS8;;MENTAL RETARDATION, X-LINKED 55; MRX55
id in db is: 289187
inserted disease: 210350 OMIM BIEMOND SYNDROME II
id in db is: 289188
inserted disease: 394 ORPHA Classic homocystinuria
id in db is: 289189
inserted disease: 530000 OMIM KEARNS-SAYRE SYNDROME
id in db is: 289190
inserted disease: 238340 OMIM HYPERLEUCINE-ISOLEUCINEMIA
id in db is: 289191
inserted disease: 614643 OMIM #614643 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7; MDDGA7;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
id in db is: 289192
inserted disease: 613807 OMIM #613807 CILIARY DYSKINESIA, PRIMARY, 14; CILD14;;CILIARY DYSKINESIA, PRIMARY, 14, WITH OR WITHOUT SITUS INVERSUS
id in db is: 289193
inserted disease: 616034 OMIM 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD
id in db is: 289194
inserted disease: 1782 ORPHA Dysosteosclerosis
id in db is: 289195
inserted disease: 200400 OMIM ACHALASIA, FAMILIAL ESOPHAGEAL
id in db is: 289196
inserted disease: 248310 OMIM PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL
id in db is: 289197
inserted disease: 605041 OMIM BROOKE-SPIEGLER SYNDROME; BSS
id in db is: 289198
inserted disease: 2386 ORPHA Leukoencephalopathy-palmoplantar keratoderma syndrome
id in db is: 289199
inserted disease: 613144 OMIM %613144 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 3; CACD3;;CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, WITH OR WITHOUT DRUSEN
id in db is: 289200
inserted disease: 614195 OMIM #614195 CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS
id in db is: 289201
inserted disease: 616505 OMIM NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B
id in db is: 289202
inserted disease: 616154 OMIM PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD
id in db is: 289203
inserted disease: 79142 ORPHA Familial Dupuytren contracture
id in db is: 289204
inserted disease: 212090 OMIM CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA
id in db is: 289205
inserted disease: 300076 OMIM IMMUNONEUROLOGIC DISORDER, X-LINKED
id in db is: 289206
inserted disease: 600142 OMIM #600142 CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CARASIL;;MAEDA SYNDROME;;SUBCORTICAL VASCULAR ENCEPHALOPATHY, PROGRESSIVE;;CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE
id in db is: 289207
inserted disease: 602771 OMIM RIGID SPINE MUSCULAR DYSTROPHY 1
id in db is: 289208
inserted disease: 609259 OMIM %609259 MYOPIA 10; MYP10
id in db is: 289209
inserted disease: 85201 ORPHA Genitopatellar syndrome
id in db is: 289210
inserted disease: 240000 OMIM HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINEGUANINE PHOSPHORIBOSYLTRANSFERASE
id in db is: 289211
inserted disease: 69028 ORPHA Syndrome with brachydactyly
id in db is: 289212
inserted disease: 600638 OMIM #600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT; CFEOM3A;;FEOM3 LOCUS
id in db is: 289213
inserted disease: 612776 OMIM HYPOGLOSSIA WITH SITUS INVERSUS
id in db is: 289214
inserted disease: 1221 ORPHA Cheilitis glandularis
id in db is: 289215
inserted disease: 616602 OMIM #616602 CRANIOSYNOSTOSIS 6; CRS6
id in db is: 289216
inserted disease: 264600 OMIM PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS
id in db is: 289217
inserted disease: 2598 ORPHA Mitochondrial myopathy and sideroblastic anemia
id in db is: 289218
inserted disease: 128100 OMIM DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
id in db is: 289219
inserted disease: 273390 OMIM TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES
id in db is: 289220
inserted disease: 759 ORPHA Central precocious puberty
id in db is: 289221
inserted disease: 226810 OMIM CELIAC DISEASE, EPILEPSY AND CEREBRAL CALCIFICATION SYNDROME
id in db is: 289222
inserted disease: 254000 OMIM MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM
id in db is: 289223
inserted disease: 79133 ORPHA Focal facial dermal dysplasia type I
id in db is: 289224
inserted disease: 112410 OMIM #112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB;;BRACHYDACTYLY WITH HYPERTENSION;;BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;;BILGINTURAN SYNDROME
id in db is: 289225
inserted disease: 251100 OMIM #251100 METHYLMALONIC ACIDURIA, cblA TYPE;;METHYLMALONIC ACIDEMIA, cblA TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblA TYPE
id in db is: 289226
inserted disease: 102900 OMIM ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
id in db is: 289227
inserted disease: 265100 OMIM PULMONARY ALVEOLAR MICROLITHIASIS
id in db is: 289228
inserted disease: 64 ORPHA Alström syndrome
id in db is: 289229
inserted disease: 615925 OMIM GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; GHDP
id in db is: 289230
inserted disease: 150360 OMIM LARYNGEAL WEB, FAMILIAL
id in db is: 289231
inserted disease: 616166 OMIM AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9
id in db is: 289232
inserted disease: 614441 OMIM #614441 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2;;PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE;;PDP, AUTOSOMAL RECESSIVE
id in db is: 289233
inserted disease: 614628 OMIM %614628 KERATOCONUS 8; KTCN8
id in db is: 289234
inserted disease: 83619 ORPHA Macrostomia-preauricular tags-external ophthalmoplegia syndrome
id in db is: 289235
inserted disease: 300818 OMIM #300818 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PNH
id in db is: 289236
inserted disease: 613489 OMIM #613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J;;CDG IIj; CDGIIj
id in db is: 289237
inserted disease: 65684 ORPHA Monomelic amyotrophy
id in db is: 289238
inserted disease: 79321 ORPHA ALG3-CDG
id in db is: 289239
inserted disease: 275766 ORPHA Idiopathic pulmonary arterial hypertension
id in db is: 289240
inserted disease: 614008 OMIM NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS
id in db is: 289241
inserted disease: 1434 ORPHA Choroideremia-hypopituitarism syndrome
id in db is: 289242
inserted disease: 565 ORPHA Menkes disease
id in db is: 289243
inserted disease: 612943 OMIM #612943 RETINITIS PIGMENTOSA 42; RP42
id in db is: 289244
inserted disease: 607941 OMIM #607941 ATRIAL SEPTAL DEFECT 2; ASD2
id in db is: 289245
inserted disease: 79473 ORPHA Porphyria variegata
id in db is: 289246
inserted disease: 838 ORPHA Susac syndrome
id in db is: 289247
inserted disease: 300559 OMIM MUSCLE GLYCOGENOSIS, X-LINKED
id in db is: 289248
inserted disease: 46485 ORPHA Superficial pemphigus
id in db is: 289249
inserted disease: 222690 OMIM DIBASIC AMINO ACIDURIA I
id in db is: 289250
inserted disease: 419 ORPHA Hyperprolinemia type 1
id in db is: 289251
inserted disease: 613172 OMIM #613172 CARDIOMYOPATHY, DILATED, 1DD; CMD1DD
id in db is: 289252
inserted disease: 614369 OMIM PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH
id in db is: 289253
inserted disease: 612989 OMIM OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7
id in db is: 289254
inserted disease: 616517 OMIM #616517 ACHROMATOPSIA 7; ACHM7
id in db is: 289255
inserted disease: 613930 OMIM %613930 ALOPECIA-MENTAL RETARDATION SYNDROME 3; APMR3
id in db is: 289256
inserted disease: 607682 OMIM #607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6, INCLUDED; EJM6,INCLUDED
id in db is: 289257
inserted disease: 249630 OMIM 249630 MENTAL RETARDATION, BUENOS AIRES TYPE;;MUTCHINICK SYNDROME
id in db is: 289258
inserted disease: 611634 OMIM FEBRILE CONVULSIONS, FAMILIAL, 9
id in db is: 289259
inserted disease: 614817 OMIM #614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN
id in db is: 289260
inserted disease: 1962 ORPHA Exostoses-anetodermia-brachydactyly type E syndrome
id in db is: 289261
inserted disease: 97332 ORPHA Kienbock disease
id in db is: 289262
inserted disease: 271109 OMIM SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION
id in db is: 289263
inserted disease: 612656 OMIM #612656 EPISODIC ATAXIA, TYPE 6; EA6
id in db is: 289264
inserted disease: 79394 ORPHA Congenital non-bullous ichthyosiform erythroderma
id in db is: 289265
inserted disease: 48 DECIPHER Early-onset Alzheimer disease with cerebral amyloid angiopathy
id in db is: 289266
inserted disease: 300660 OMIM %300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD
id in db is: 289267
inserted disease: 150170 OMIM LACTIC ACIDOSIS, CHRONIC ADULT FORM
id in db is: 289268
inserted disease: 579 ORPHA Mucopolysaccharidosis type 1
id in db is: 289269
inserted disease: 217100 OMIM %217100 CONSTRICTING BANDS, CONGENITAL;;AMNIOTIC BAND SEQUENCE; ABS;;STREETER ANOMALYADAM COMPLEX, INCLUDED;;TERMINAL TRANSVERSE DEFECTS OF ARM, INCLUDED;;AMPUTATION, CONGENITAL, INCLUDED
id in db is: 289270
inserted disease: 314795 ORPHA SHOX-related short stature
id in db is: 289271
inserted disease: 601815 OMIM PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
id in db is: 289272
inserted disease: 363705 ORPHA Craniofaciofrontodigital syndrome
id in db is: 289273
inserted disease: 231214 ORPHA Beta-thalassemia major
id in db is: 289274
inserted disease: 85317 ORPHA X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
id in db is: 289275
inserted disease: 215400 OMIM #215400 CHORDOMA, SUSCEPTIBILITY TO; CHDM
id in db is: 289276
inserted disease: 263400 OMIM #263400 ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2;;ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN;;POLYCYTHEMIA, VHL-DEPENDENT;;POLYCYTHEMIA, CHUVASH TYPE
id in db is: 289277
inserted disease: 600356 OMIM PACHYDERMODACTYLY, FAMILIAL
id in db is: 289278
inserted disease: 613001 OMIM ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL
id in db is: 289279
inserted disease: 608805 OMIM #608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY;;ANFH;;FEMORAL HEAD, AVASCULAR NECROSIS OF;;FEMORAL HEAD, ASEPTIC NECROSIS OF;;ISCHEMIC NECROSIS OF FEMORAL HEAD;;OSTEONECROSIS OF FEMORAL HEAD
id in db is: 289280
inserted disease: 140850 OMIM HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE
id in db is: 289281
inserted disease: 614167 OMIM #614167 MYOPIA 21, AUTOSOMAL DOMINANT; MYP21
id in db is: 289282
inserted disease: 166016 ORPHA Multiple epiphyseal dysplasia, Lowry type
id in db is: 289283
inserted disease: 245348 OMIM #245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD;;LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATEDEHYDROGENASE COMPLEX
id in db is: 289284
inserted disease: 615290 OMIM #615290 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMALDOMINANT; SMALED2
id in db is: 289285
inserted disease: 600131 OMIM EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1
id in db is: 289286
inserted disease: 252300 OMIM MORQUIO SYNDROME C
id in db is: 289287
inserted disease: 604809 OMIM %604809 PANBRONCHIOLITIS, DIFFUSE;;DPB;;PBLT
id in db is: 289288
inserted disease: 262900 OMIM 262900 PLEOCONIAL MYOPATHY WITH SALT CRAVING
id in db is: 289289
inserted disease: 243910 OMIM %243910 ARIMA SYNDROME;;DEKABAN-ARIMA SYNDROME;;JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA;;COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA;;CEREBROOCULOHEPATORENAL SYNDROME
id in db is: 289290
inserted disease: 1390 ORPHA Night blindness-skeletal anomalies-dysmorphism syndrome
id in db is: 289291
inserted disease: 616208 OMIM AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22
id in db is: 289292
inserted disease: 215520 OMIM CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES
id in db is: 289293
inserted disease: 245800 OMIM LAURENCE-MOON SYNDROME; LNMS
id in db is: 289294
inserted disease: 226307 ORPHA Hypothyroidism due to deficient transcription factors involved in pituitary development or function
id in db is: 289295
inserted disease: 607373 OMIM AUTISM, SUSCEPTIBILITY TO, 8; AUTS8
id in db is: 289296
inserted disease: 248 ORPHA Autosomal recessive hypohidrotic ectodermal dysplasia
id in db is: 289297
inserted disease: 142500 OMIM 142500 HETEROCHROMIA IRIDIS
id in db is: 289298
inserted disease: 101120 OMIM ACROCEPHALOPOLYSYNDACTYLY TYPE III
id in db is: 289299
inserted disease: 2267 ORPHA Ichthyosis-cheek-eyebrow syndrome
id in db is: 289300
inserted disease: 246300 OMIM #246300 LEPROSY, SUSCEPTIBILITY TO, 3; LPRS3
id in db is: 289301
inserted disease: 145250 OMIM #145250 HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE;FPHH;;MELANOSIS UNIVERSALIS HEREDITARIA; MUH;;HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2, FORMERLY; FPH2, FORMERLY
id in db is: 289302
inserted disease: 614976 OMIM CARPENTER SYNDROME 2; CRPT2
id in db is: 289303
inserted disease: 614937 OMIM #614937 MYOCLONUS, FAMILIAL CORTICAL; FCM
id in db is: 289304
inserted disease: 69078 ORPHA Liposarcoma
id in db is: 289305
inserted disease: 615476 OMIM #615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18
id in db is: 289306
inserted disease: 79156 ORPHA Seizures-intellectual disability due to hydroxylysinuria syndrome
id in db is: 289307
inserted disease: 267300 OMIM RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS
id in db is: 289308
inserted disease: 274265 OMIM THYMIC-RENAL-ANAL-LUNG DYSPLASIA
id in db is: 289309
inserted disease: 1791 ORPHA Frontofacionasal dysplasia
id in db is: 289310
inserted disease: 107970 OMIM #107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1UHL ANOMALY, INCLUDED;;CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED
id in db is: 289311
inserted disease: 131880 OMIM EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE
id in db is: 289312
inserted disease: 1451 ORPHA CINCA syndrome
id in db is: 289313
inserted disease: 616688 OMIM #616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z; CMT2Z;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z
id in db is: 289314
inserted disease: 606002 OMIM #606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1;;ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;;ATAXIA-OCULAR APRAXIA 2
id in db is: 289315
inserted disease: 588 ORPHA Muscle-eye-brain disease
id in db is: 289316
inserted disease: 608631 OMIM ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2; ASPG2
id in db is: 289317
inserted disease: 99966 ORPHA Atypical teratoid rhabdoid tumor
id in db is: 289318
inserted disease: 101075 ORPHA X-linked Charcot-Marie-Tooth disease type 1
id in db is: 289319
inserted disease: 613938 OMIM %613938 PARASOMNIA, SLEEPWALKING TYPE; PSMNSWPARASOMNIA, SLEEP TERRORS TYPE, INCLUDED; PSMNST, INCLUDED
id in db is: 289320
inserted disease: 204110 OMIM 204110 AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS
id in db is: 289321
inserted disease: 236640 OMIM 236640 HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS
id in db is: 289322
inserted disease: 605808 OMIM BIRDSHOT CHORIORETINOPATHY
id in db is: 289323
inserted disease: 72 DECIPHER 22q11.2 distal deletion syndrome
id in db is: 289324
inserted disease: 289 ORPHA Ellis Van Creveld syndrome
id in db is: 289325
inserted disease: 137763 OMIM GLAUCOMA - SLEEP APNEA
id in db is: 289326
inserted disease: 200700 OMIM #200700 CHONDRODYSPLASIA, GREBE TYPE;;ACHONDROGENESIS, BRAZILIAN;;GREBE CHONDRODYSPLASIA;;GREBE DYSPLASIA;;ACROMESOMELIC DYSPLASIA, GREBE TYPE; AMDG;;ACHONDROGENESIS, TYPE II, FORMERLY
id in db is: 289327
inserted disease: 755 ORPHA Leydig cell hypoplasia
id in db is: 289328
inserted disease: 178000 OMIM PTERYGIUM OF CONJUNCTIVA AND CORNEA
id in db is: 289329
inserted disease: 601369 OMIM #601369 DEAFNESS, AUTOSOMAL DOMINANT 9; DFNA9
id in db is: 289330
inserted disease: 1617 ORPHA 2q24 microdeletion syndrome
id in db is: 289331
inserted disease: 117900 OMIM CERVICAL RIB
id in db is: 289332
inserted disease: 293355 ORPHA Methylmalonic acidemia without homocystinuria
id in db is: 289333
inserted disease: 2976 ORPHA Pseudoleprechaunism syndrome, Patterson type
id in db is: 289334
inserted disease: 309850 OMIM MONOAMINE OXIDASE A
id in db is: 289335
inserted disease: 611777 OMIM #611777 BRUGADA SYNDROME 2; BRGDA2
id in db is: 289336
inserted disease: 2382 ORPHA Lennox-Gastaut syndrome
id in db is: 289337
inserted disease: 306960 OMIM 306960 HHHH SYNDROME;;HEREDITARY HEMIHYPOTROPHY HEMIPARESIS HEMIATHETOSIS SYNDROME
id in db is: 289338
inserted disease: 602471 OMIM #602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES; SAMS
id in db is: 289339
inserted disease: 600001 OMIM #600001 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE;;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD
id in db is: 289340
inserted disease: 610799 OMIM #610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST, INCLUDED
id in db is: 289341
inserted disease: 614751 OMIM #614751 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B;;HMN VB;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; DHMN5B;;DHMN VB;;SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VB; DSMAVB
id in db is: 289342
inserted disease: 615625 OMIM #615625 SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE; SPG72SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT
id in db is: 289343
inserted disease: 266120 OMIM URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIADUE TO
id in db is: 289344
inserted disease: 2111 ORPHA Cystic hamartoma of lung and kidney
id in db is: 289345
inserted disease: 155200 OMIM MEDIOSTERNAL DEPIGMENTATION LINE
id in db is: 289346
inserted disease: 276902 OMIM USHER SYNDROME, TYPE IIIA
id in db is: 289347
inserted disease: 610 ORPHA Bethlem myopathy
id in db is: 289348
inserted disease: 167500 OMIM PALATOPHARYNGEAL INCOMPETENCE
id in db is: 289349
inserted disease: 221995 OMIM NEPHROGENIC DIABETES INSIPIDUS - INTRACRANIAL CALCIFICATION
id in db is: 289350
inserted disease: 609536 OMIM #609536 COMPLEMENT COMPONENT 5 DEFICIENCY; C5D;;C5 DEFICIENCY
id in db is: 289351
inserted disease: 772 ORPHA Infantile Refsum disease
id in db is: 289352
inserted disease: 125420 OMIM DENTIN DYSPLASIA, TYPE II
id in db is: 289353
inserted disease: 601346 OMIM DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,AND GALLBLADDER APLASIA OR HYPOPLASIA
id in db is: 289354
inserted disease: 613646 OMIM #613646 METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT;;METHYLMALONIC ACIDEMIA, TCblR TYPE
id in db is: 289355
inserted disease: 604804 OMIM #604804 MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3
id in db is: 289356
inserted disease: 604801 OMIM MUSCULAR DYSTROPHY, CONGENITAL, 1B
id in db is: 289357
inserted disease: 614303 OMIM #614303 EDICT SYNDROME; EDICT;;ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMALTHINNING SYNDROME;;KERATOCONUS WITH CATARACT; KTCNCT;;KERATOCONUS, FAMILIAL, WITH EARLY-ONSET ANTERIOR POLAR CATARACT
id in db is: 289358
inserted disease: 605685 OMIM CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS
id in db is: 289359
inserted disease: 603218 OMIM HUNTINGTON DISEASE-LIKE 1
id in db is: 289360
inserted disease: 145701 OMIM HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE
id in db is: 289361
inserted disease: 175020 OMIM POLYPOSIS, GASTRIC
id in db is: 289362
inserted disease: 615184 OMIM #615184 CARDIOMYOPATHY, DILATED, 1II; CMD1II
id in db is: 289363
inserted disease: 313 ORPHA Lamellar ichthyosis
id in db is: 289364
inserted disease: 608217 OMIM EPILEPSY, BENIGN NEONATAL, 3
id in db is: 289365
inserted disease: 610475 OMIM PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
id in db is: 289366
inserted disease: 613328 OMIM 613328 ROIFMAN-CHITAYAT SYNDROME;;COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY,SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY
id in db is: 289367
inserted disease: 614323 OMIM NEVOID HYPERMELANOSIS, LINEAR AND WHORLED; LWNH
id in db is: 289368
inserted disease: 137700 OMIM GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE
id in db is: 289369
inserted disease: 262710 OMIM PITUITARY DWARFISM WITH LARGE SELLA TURCICA
id in db is: 289370
inserted disease: 614621 OMIM #614621 UV-SENSITIVE SYNDROME 2; UVSS2
id in db is: 289371
inserted disease: 613623 OMIM AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA
id in db is: 289372
inserted disease: 221200 OMIM #221200 DEAFNESS AND MYOPIA; DFNMYP
id in db is: 289373
inserted disease: 257920 OMIM 3MC SYNDROME 1
id in db is: 289374
inserted disease: 220500 OMIM #220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, ANDSEIZURES SYNDROME; DOORS;;DOOR SYNDROME;;DIGITORENOCEREBRAL SYNDROME;;DRC SYNDROME;;BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES;;ERONEN SYNDROME
id in db is: 289375
inserted disease: 187300 OMIM #187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;HHT;;OSLER-RENDU-WEBER DISEASE;;ORW DISEASETELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, INCLUDED; HHT1, INCLUDED
id in db is: 289376
inserted disease: 584 ORPHA Mucopolysaccharidosis type 7
id in db is: 289377
inserted disease: 160010 OMIM %160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT
id in db is: 289378
inserted disease: 602668 OMIM DYSTROPHIA MYOTONICA 2
id in db is: 289379
inserted disease: 615668 OMIM CHROMOSOME 5q12 DELETION SYNDROME
id in db is: 289380
inserted disease: 125440 OMIM DENTIN DYSPLASIA WITH SCLEROTIC BONES
id in db is: 289381
inserted disease: 141405 OMIM 141405 HEMIFACIAL SPASM, FAMILIAL
id in db is: 289382
inserted disease: 17 DECIPHER Sotos syndrome
id in db is: 289383
inserted disease: 3267 ORPHA Familial lambdoid synostosis
id in db is: 289384
inserted disease: 179800 OMIM RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
id in db is: 289385
inserted disease: 301790 OMIM 301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3;;SCAX3;;ATAXIA-DEAFNESS SYNDROME, X-LINKED
id in db is: 289386
inserted disease: 601152 OMIM #601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI;;HMSN6;;HMSN VI;;PERIPHERAL NEUROPATHY AND OPTIC ATROPHY;;CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; CMT6
id in db is: 289387
inserted disease: 609981 OMIM #609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT; NKGCD;;NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD
id in db is: 289388
inserted disease: 3286 ORPHA Catecholaminergic polymorphic ventricular tachycardia
id in db is: 289389
inserted disease: 241000 OMIM HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY
id in db is: 289390
inserted disease: 122400 OMIM #122400 EPITHELIAL RECURRENT EROSION DYSTROPHY; ERED;;CORNEAL EROSIONS, RECURRING HEREDITARY
id in db is: 289391
inserted disease: 277720 OMIM %277720 WHISTLING FACE SYNDROME, RECESSIVE FORM
id in db is: 289392
inserted disease: 52429 ORPHA Branchio-otic syndrome
id in db is: 289393
inserted disease: 186750 OMIM TALONAVICULAR COALITION
id in db is: 289394
inserted disease: 71493 ORPHA Familial thrombocytosis
id in db is: 289395
inserted disease: 1429 ORPHA Benign familial chorea
id in db is: 289396
inserted disease: 79327 ORPHA ALG1-CDG
id in db is: 289397
inserted disease: 612474 OMIM CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
id in db is: 289398
inserted disease: 219250 OMIM CUTIS MARMORATA TELANGIECTATICA CONGENITA
id in db is: 289399
inserted disease: 211370 OMIM BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM
id in db is: 289400
inserted disease: 213700 OMIM CEREBROTENDINOUS XANTHOMATOSIS
id in db is: 289401
inserted disease: 181450 OMIM #181450 ULNAR-MAMMARY SYNDROME; UMS;;PALLISTER ULNAR-MAMMARY SYNDROME;;SCHINZEL SYNDROME
id in db is: 289402
inserted disease: 614160 OMIM #614160 MUSCLE HYPERTROPHY; MSLHP
id in db is: 289403
inserted disease: 1636 ORPHA Distal monosomy 7q36
id in db is: 289404
inserted disease: 134700 OMIM FAVISM, SUSCEPTIBILITY TO
id in db is: 289405
inserted disease: 610168 OMIM LOEYS-DIETZ SYNDROME 2; LDS2
id in db is: 289406
inserted disease: 614019 OMIM #614019 LISSENCEPHALY 4; LIS4;;LISSENCEPHALY 4, WITH MICROCEPHALY
id in db is: 289407
inserted disease: 503 ORPHA Autosomal dominant Larsen syndrome
id in db is: 289408
inserted disease: 1275 ORPHA Brachydactyly-elbow wrist dysplasia syndrome
id in db is: 289409
inserted disease: 201400 OMIM #201400 ACTH DEFICIENCY, ISOLATED; IAD;;ADRENOCORTICOTROPIC HORMONE DEFICIENCY
id in db is: 289410
inserted disease: 608367 OMIM MYOPIA 17
id in db is: 289411
inserted disease: 614039 OMIM #614039 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS; CDCBM
id in db is: 289412
inserted disease: 243180 OMIM VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE
id in db is: 289413
inserted disease: 615451 OMIM CILIARY DYSKINESIA, PRIMARY, 23; CILD23
id in db is: 289414
inserted disease: 616325 OMIM MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9
id in db is: 289415
inserted disease: 609823 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 28
id in db is: 289416
inserted disease: 112440 OMIM %112440 BRACHYDACTYLY, COMBINED B AND E TYPES;;PITT-WILLIAMS BRACHYDACTYLY;;BRACHYDACTYLY, BALLARD TYPE
id in db is: 289417
inserted disease: 267760 OMIM 267760 RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION,AND ANGLE CLOSURE GLAUCOMA
id in db is: 289418
inserted disease: 600635 OMIM NK2 HOMEOBOX 1
id in db is: 289419
inserted disease: 2570 ORPHA Holoprosencephaly-hypokinesia-congenital contractures syndrome
id in db is: 289420
inserted disease: 267740 OMIM RETINAL DEGENERATION AND EPILEPSY
id in db is: 289421
inserted disease: 600666 OMIM POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT
id in db is: 289422
inserted disease: 125 ORPHA Bloom syndrome
id in db is: 289423
inserted disease: 2812 ORPHA Parana hard-skin syndrome
id in db is: 289424
inserted disease: 614922 OMIM #614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11;;ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATIONDEFECT
id in db is: 289425
inserted disease: 615471 OMIM #615471 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE);MTDPS13
id in db is: 289426
inserted disease: 307200 OMIM #307200 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3;;IGHD III;;GROWTH HORMONE DEFICIENCY WITH HYPOGAMMAGLOBULINEMIA;;HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED;;AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED;;FLEISHER SYNDROME
id in db is: 289427
inserted disease: 616486 OMIM #616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15
id in db is: 289428
inserted disease: 2346 ORPHA Angioosteohypertrophic syndrome
id in db is: 289429
inserted disease: 233500 OMIM %233500 GORLIN-CHAUDHRY-MOSS SYNDROME; GCMS;;CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA,;;DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE
id in db is: 289430
inserted disease: 269160 OMIM SCHIZENCEPHALY
id in db is: 289431
inserted disease: 604827 OMIM MYOCLONIC EPILEPSY, JUVENILE, 2
id in db is: 289432
inserted disease: 254478 ORPHA Lichen planus pemphigoides
id in db is: 289433
inserted disease: 106300 OMIM SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1
id in db is: 289434
inserted disease: 616368 OMIM CHOPS SYNDROME; CHOPS
id in db is: 289435
inserted disease: 614464 OMIM #614464 JOUBERT SYNDROME 15; JBTS15JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED;;JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED
id in db is: 289436
inserted disease: 3374 ORPHA Triopia
id in db is: 289437
inserted disease: 2609 ORPHA Isolated complex I deficiency
id in db is: 289438
inserted disease: 300355 OMIM %300355 MENTAL RETARDATION, X-LINKED 73; MRX73
id in db is: 289439
inserted disease: 1465 ORPHA Coffin-Siris syndrome
id in db is: 289440
inserted disease: 235510 OMIM #235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME;;LYMPHATIC DYSPLASIA, GENERALIZED
id in db is: 289441
inserted disease: 2301 ORPHA Congenital short bowel syndrome
id in db is: 289442
inserted disease: 169545 OMIM PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA
id in db is: 289443
inserted disease: 258480 OMIM OPSISMODYSPLASIA
id in db is: 289444
inserted disease: 613796 OMIM #613796 MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE;;STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE
id in db is: 289445
inserted disease: 253300 OMIM #253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1;;SMA I;;SMA, INFANTILE ACUTE FORM;;MUSCULAR ATROPHY, INFANTILE;;WERDNIG-HOFFMANN DISEASE
id in db is: 289446
inserted disease: 612938 OMIM #612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLYDEATH; GDFD
id in db is: 289447
inserted disease: 304800 OMIM DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
id in db is: 289448
inserted disease: 148390 OMIM KERATOSIS, FAMILIAL ACTINIC
id in db is: 289449
inserted disease: 262400 OMIM PITUITARY DWARFISM I
id in db is: 289450
inserted disease: 600643 OMIM 600643 CAROLI DISEASE, ISOLATED
id in db is: 289451
inserted disease: 154500 OMIM #154500 TREACHER COLLINS SYNDROME 1; TCS1;;TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF;;TREACHER COLLINS SYNDROME; TCS;;MANDIBULOFACIAL DYSOSTOSIS; MFD1
id in db is: 289452
inserted disease: 1006 ORPHA Alopecia antibody deficiency
id in db is: 289453
inserted disease: 613933 OMIM %613933 ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD;;ACACA DEFICIENCY;;ACC1 DEFICIENCY
id in db is: 289454
inserted disease: 2741 ORPHA Ophthalmomandibulomelic dysplasia
id in db is: 289455
inserted disease: 126100 OMIM DIMPLES, FACIAL
id in db is: 289456
inserted disease: 139100 OMIM %139100 GRAYING OF HAIR, PRECOCIOUS;;WHITE HAIR, PREMATURE
id in db is: 289457
inserted disease: 302030 OMIM 302030 CALVARIAL HYPEROSTOSIS
id in db is: 289458
inserted disease: 612301 OMIM #612301 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7;;OSTEOPETROSIS, OSTEOCLAST-POOR, WITH HYPOGAMMAGLOBULINEMIA
id in db is: 289459
inserted disease: 615026 OMIM #615026 RIBOFLAVIN DEFICIENCY; RBFVD
id in db is: 289460
inserted disease: 223380 OMIM DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF
id in db is: 289461
inserted disease: 300367 OMIM #300367 THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA;XLTDA
id in db is: 289462
inserted disease: 607801 OMIM MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
id in db is: 289463
inserted disease: 609055 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 9
id in db is: 289464
inserted disease: 2831 ORPHA Rhizomelic dysplasia, Patterson-Lowry type
id in db is: 289465
inserted disease: 83461 ORPHA Congenital primary aphakia
id in db is: 289466
inserted disease: 604320 OMIM #604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1;;SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1;;NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI; DHMN6;;HMN6;;HMN VI;;SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE; SIANRF;;NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE;;SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC
id in db is: 289467
inserted disease: 1912 ORPHA Fetal hydantoin syndrome
id in db is: 289468
inserted disease: 251056 ORPHA 6q25 microdeletion syndrome
id in db is: 289469
inserted disease: 278750 OMIM #278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV;;XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES;;PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS
id in db is: 289470
inserted disease: 236670 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
id in db is: 289471
inserted disease: 600334 OMIM TIBIAL MUSCULAR DYSTROPHY, TARDIVE
id in db is: 289472
inserted disease: 121700 OMIM %121700 CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT; CHED1;;CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL; CHED;;CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA;;MAUMENEE CORNEAL DYSTROPHY
id in db is: 289473
inserted disease: 254150 OMIM MUSK, INABILITY TO SMELL
id in db is: 289474
inserted disease: 300066 OMIM DEAFNESS, X-LINKED 4
id in db is: 289475
inserted disease: 268150 OMIM RH-NULL, REGULATOR TYPE
id in db is: 289476
inserted disease: 248950 OMIM 248950 MCDONOUGH SYNDROME
id in db is: 289477
inserted disease: 254130 OMIM #254130 MIYOSHI MUSCULAR DYSTROPHY 1; MMD1;;MIYOSHI MYOPATHY;;MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL RECESSIVE
id in db is: 289478
inserted disease: 610618 OMIM #610618 ANGIOEDEMA, HEREDITARY, TYPE III; HAE3;;HAE III;;ESTROGEN-RELATED HAE;;ESTROGEN-SENSITIVE HAE;;ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATIONAND FUNCTION;;HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION;;HEREDITARY ANGIOEDEMA WITH NORMAL C1 INHIBITOR ACTIVITY
id in db is: 289479
inserted disease: 613177 OMIM #613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C;;CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES;;URBAN-RIFKIN-DAVIS SYNDROME; URDS
id in db is: 289480
inserted disease: 614172 OMIM #614172 IMMUNODEFICIENCY 21; IMD21;;DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTEDEFICIENCY; DCML;;MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; MONOMAC;;MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUSINFECTIONS AND MYELODYSPLASIA;;COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL,AND FUNGAL INFECTIONS
id in db is: 289481
inserted disease: 616151 OMIM #616151 MACULAR DYSTROPHY, VITELLIFORM, 4; VMD4
id in db is: 289482
inserted disease: 115196 OMIM CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3
id in db is: 289483
inserted disease: 171300 OMIM PHEOCHROMOCYTOMA
id in db is: 289484
inserted disease: 244310 ORPHA RFT1-CDG
id in db is: 289485
inserted disease: 300352 OMIM #300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1;;CREATINE DEFICIENCY SYNDROME, X-LINKED;;CREATINE TRANSPORTER DEFECT;;MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACEHYPOPLASIA;;MENTAL RETARDATION, X-LINKED, WITH CREATINE TRANSPORT DEFICIENCY
id in db is: 289486
inserted disease: 613154 OMIM #613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6; MDDGA6;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
id in db is: 289487
inserted disease: 607088 OMIM SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3
id in db is: 289488
inserted disease: 161470 OMIM NASAL ALAR COLLAPSE, BILATERAL
id in db is: 289489
inserted disease: 615935 OMIM PANCREATIC AGENESIS 2; PAGEN2
id in db is: 289490
inserted disease: 153800 OMIM MACULAR DEGENERATION, AGE-RELATED, 2
id in db is: 289491
inserted disease: 300952 OMIM LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3
id in db is: 289492
inserted disease: 181270 OMIM #181270 SCALP-EAR-NIPPLE SYNDROME; SENS;;FINLAY-MARKS SYNDROME;;SEN SYNDROME
id in db is: 289493
inserted disease: 1993 ORPHA Pai syndrome
id in db is: 289494
inserted disease: 613615 OMIM #613615 SENIOR-LOKEN SYNDROME 7; SLSN7
id in db is: 289495
inserted disease: 107650 OMIM APNEA, OBSTRUCTIVE SLEEP
id in db is: 289496
inserted disease: 1824 ORPHA Lowry-Wood syndrome
id in db is: 289497
inserted disease: 1427 ORPHA Otospondylomegaepiphyseal dysplasia
id in db is: 289498
inserted disease: 606012 OMIM %606012 DEAFNESS, AUTOSOMAL DOMINANT 18; DFNA18
id in db is: 289499
inserted disease: 93672 ORPHA Juvenile dermatomyositis
id in db is: 289500
inserted disease: 601039 OMIM ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN
id in db is: 289501
inserted disease: 104150 OMIM +104150 ALPHA-FETOPROTEIN; AFPALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF, INCLUDED; HPAFP, INCLUDED;;ALPHA-FETOPROTEIN DEFICIENCY, INCLUDED
id in db is: 289502
inserted disease: 187760 OMIM THORACOLARYNGOPELVIC DYSPLASIA
id in db is: 289503
inserted disease: 1807 ORPHA Focal facial dermal dysplasia type III
id in db is: 289504
inserted disease: 293987 ORPHA Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
id in db is: 289505
inserted disease: 614613 OMIM ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2
id in db is: 289506
inserted disease: 601016 OMIM 601016 MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM;;DINCSOY SYNDROME
id in db is: 289507
inserted disease: 91131 ORPHA DK1-CDG
id in db is: 289508
inserted disease: 174300 OMIM #174300 OROFACIODIGITAL SYNDROME V; OFD5;;OFDS V;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE V;;OROFACIODIGITAL SYNDROME, THURSTON TYPE;;THURSTON SYNDROME;;POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP
id in db is: 289509
inserted disease: 218550 OMIM CRANIOSYNOSTOSIS WITH FIBULAR APLASIA
id in db is: 289510
inserted disease: 254780 OMIM #254780 MYOCLONIC EPILEPSY OF LAFORA;;MELF;;LAFORA DISEASE;;LAFORA BODY DISEASE; LBD;;EPILEPSY, PROGRESSIVE MYOCLONIC 2A; EPM2A;;EPM2EPILEPSY, PROGRESSIVE MYOCLONIC 2B, INCLUDED; EPM2B, INCLUDED
id in db is: 289511
inserted disease: 614499 OMIM #614499 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34; MRT34
id in db is: 289512
inserted disease: 601338 OMIM CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS
id in db is: 289513
inserted disease: 274700 OMIM THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
id in db is: 289514
inserted disease: 613956 OMIM #613956 CANDIDIASIS, FAMILIAL, 6; CANDF6;;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
id in db is: 289515
inserted disease: 610319 OMIM 610319 RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA
id in db is: 289516
inserted disease: 219100 OMIM #219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A;;ARCL1;;CUTIS LAXA, AUTOSOMAL RECESSIVE
id in db is: 289517
inserted disease: 90652 ORPHA Otopalatodigital syndrome type 2
id in db is: 289518
inserted disease: 251110 OMIM #251110 METHYLMALONIC ACIDURIA, cblB TYPE;;METHYLMALONIC ACIDEMIA, cblB TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, cblB TYPE
id in db is: 289519
inserted disease: 300813 OMIM SARCOMA, SYNOVIAL
id in db is: 289520
inserted disease: 613658 OMIM %613658 RAJAB SYNDROME;;DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS
id in db is: 289521
inserted disease: 616001 OMIM BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2
id in db is: 289522
inserted disease: 312300 OMIM #312300 ANDROGEN INSENSITIVITY, PARTIAL; PAIS;;REIFENSTEIN SYNDROME;;ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER
id in db is: 289523
inserted disease: 93298 ORPHA Achondrogenesis type 1B
id in db is: 289524
inserted disease: 146255 OMIM HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
id in db is: 289525
inserted disease: 205100 OMIM AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
id in db is: 289526
inserted disease: 229700 OMIM FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
id in db is: 289527
inserted disease: 616199 OMIM POLYGLUCOSAN BODY MYOPATHY 2; PGBM2
id in db is: 289528
inserted disease: 101900 OMIM #101900 ACROKERATOSIS VERRUCIFORMIS; AKV;;HOPF DISEASE
id in db is: 289529
inserted disease: 249500 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
id in db is: 289530
inserted disease: 180100 OMIM RETINITIS PIGMENTOSA 1; RP1
id in db is: 289531
inserted disease: 606353 OMIM PRIMARY LATERAL SCLEROSIS, JUVENILE
id in db is: 289532
inserted disease: 98791 ORPHA Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
id in db is: 289533
inserted disease: 601195 OMIM 601195 IRON OVERLOAD IN AFRICA;;AFRICAN IRON OVERLOAD;;BANTU SIDEROSIS
id in db is: 289534
inserted disease: 615006 OMIM #615006 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15
id in db is: 289535
inserted disease: 173600 OMIM PNEUMOTHORAX, PRIMARY SPONTANEOUS
id in db is: 289536
inserted disease: 113450 OMIM 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
id in db is: 289537
inserted disease: 615338 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16
id in db is: 289538
inserted disease: 152800 OMIM %152800 LYMPHANGIECTASIA, INTESTINAL
id in db is: 289539
inserted disease: 256450 OMIM #256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1;;PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHHI;;HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY;;HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA;;NESIDIOBLASTOSIS OF PANCREAS;;HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS;;HYPERINSULINISM, CONGENITAL
id in db is: 289540
inserted disease: 377 ORPHA Gorlin syndrome
id in db is: 289541
inserted disease: 300491 OMIM #300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIORDISORDERS
id in db is: 289542
inserted disease: 300816 OMIM #300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6;;ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED
id in db is: 289543
inserted disease: 244 ORPHA Primary ciliary dyskinesia
id in db is: 289544
inserted disease: 2724 ORPHA Odontomatosis-aortae esophagus stenosis syndrome
id in db is: 289545
inserted disease: 615482 OMIM CILIARY DYSKINESIA, PRIMARY, 25; CILD25
id in db is: 289546
inserted disease: 613913 OMIM LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS; APLDC3
id in db is: 289547
inserted disease: 614487 OMIM SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5
id in db is: 289548
inserted disease: 981 ORPHA Internal carotid agenesis
id in db is: 289549
inserted disease: 118600 OMIM #118600 CHONDROCALCINOSIS 2; CCAL2;;CHONDROCALCINOSIS, FAMILIAL ARTICULAR;;CALCIUM GOUT;;CALCIUM PYROPHOSPHATE ARTHROPATHY;;CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE; CPPDD
id in db is: 289550
inserted disease: 225050 OMIM ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARYDYSKINESIA
id in db is: 289551
inserted disease: 610188 OMIM JOUBERT SYNDROME 5
id in db is: 289552
inserted disease: 613162 OMIM #613162 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45
id in db is: 289553
inserted disease: 139450 ORPHA Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
id in db is: 289554
inserted disease: 142 ORPHA Anaplastic thyroid carcinoma
id in db is: 289555
inserted disease: 180270 OMIM 180270 RETINOSCHISIS, AUTOSOMAL DOMINANT
id in db is: 289556
inserted disease: 79085 ORPHA AKT2-related familial partial lipodystrophy
id in db is: 289557
inserted disease: 140500 OMIM HEART, MALFORMATION OF
id in db is: 289558
inserted disease: 177650 OMIM #177650 EXFOLIATION SYNDROME; XFS;;EXFOLIATION GLAUCOMA; XFG;;PSEUDOEXFOLIATION GLAUCOMA; PEXG;;PSEUDOEXFOLIATION OF THE LENS;;PSEUDOEXFOLIATION SYNDROME; PEXS
id in db is: 289559
inserted disease: 277740 OMIM WHITE FORELOCK WITH MALFORMATIONS
id in db is: 289560
inserted disease: 180 ORPHA Choroideremia
id in db is: 289561
inserted disease: 110100 OMIM BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
id in db is: 289562
inserted disease: 147250 OMIM #147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI;;INCISORS, FUSED;;FUSED INCISORS;;SINGLE UPPER CENTRAL INCISOR;;SINGLE CENTRAL MAXILLARY INCISORSOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED;;SMMCI SYNDROME, INCLUDED
id in db is: 289563
inserted disease: 201710 OMIM LIPOID CONGENITAL ADRENAL HYPERPLASIA
id in db is: 289564
inserted disease: 179010 OMIM PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1
id in db is: 289565
inserted disease: 600965 OMIM DEAFNESS, AUTOSOMAL DOMINANT 6
id in db is: 289566
inserted disease: 609524 OMIM FILAMINOPATHY, AUTOSOMAL DOMINANT
id in db is: 289567
inserted disease: 614807 OMIM #614807 MYOPATHY, CENTRONUCLEAR, 4; CNM4
id in db is: 289568
inserted disease: 108000 OMIM ARTERIES, ANOMALIES OF
id in db is: 289569
inserted disease: 601957 OMIM 601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME;;OTUDP SYNDROME
id in db is: 289570
inserted disease: 609052 OMIM %609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4
id in db is: 289571
inserted disease: 3079 ORPHA Intellectual disability, Buenos-Aires type
id in db is: 289572
inserted disease: 75496 ORPHA Ehlers-Danlos syndrome, progeroid type
id in db is: 289573
inserted disease: 79239 ORPHA Classic galactosemia
id in db is: 289574
inserted disease: 612198 OMIM DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA
id in db is: 289575
inserted disease: 3198 ORPHA Stiff person syndrome and related disorders
id in db is: 289576
inserted disease: 615656 OMIM CHROMOSOME 15q11.2 DELETION SYNDROME
id in db is: 289577
inserted disease: 141096 ORPHA Supernumerary nostril
id in db is: 289578
inserted disease: 267430 OMIM #267430 RENAL TUBULAR DYSGENESIS; RTD;;PRIMITIVE RENAL TUBULE SYNDROMERENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED
id in db is: 289579
inserted disease: 610498 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2
id in db is: 289580
inserted disease: 160300 OMIM %160300 MYOPATHY, DISTAL, INFANTILE-ONSET
id in db is: 289581
inserted disease: 305800 OMIM MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED
id in db is: 289582
inserted disease: 300000 OMIM OPITZ GBBB SYNDROME, TYPE I; GBBB1
id in db is: 289583
inserted disease: 308500 OMIM IRIS HYPOPLASIA WITH GLAUCOMA
id in db is: 289584
inserted disease: 613027 OMIM #613027 GLYCOGEN STORAGE DISEASE IXc; GSD9C;;GSD IXc
id in db is: 289585
inserted disease: 1377 ORPHA Cataract-microcornea syndrome
id in db is: 289586
inserted disease: 2042 ORPHA Tracheo-esophageal fistula-hypospadias syndrome
id in db is: 289587
inserted disease: 156530 OMIM #156530 METATROPIC DYSPLASIA;;METATROPIC DWARFISM
id in db is: 289588
inserted disease: 612921 OMIM #612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2
id in db is: 289589
inserted disease: 115150 OMIM #115150 CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1;;CFC SYNDROME;;CFCS
id in db is: 289590
inserted disease: 610455 OMIM TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
id in db is: 289591
inserted disease: 258150 OMIM OLIGOSYNAPTIC INFERTILITY
id in db is: 289592
inserted disease: 229070 OMIM #229070 HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA; HH24;;FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED
id in db is: 289593
inserted disease: 1705 ORPHA Distal trisomy 14q
id in db is: 289594
inserted disease: 85284 ORPHA BRESEK syndrome
id in db is: 289595
inserted disease: 300209 OMIM #300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2;;SGBS2
id in db is: 289596
inserted disease: 601678 OMIM BARTTER SYNDROME, ANTENATAL, TYPE 1
id in db is: 289597
inserted disease: 613313 OMIM #613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B
id in db is: 289598
inserted disease: 601794 OMIM %601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME
id in db is: 289599
inserted disease: 615474 OMIM #615474 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA
id in db is: 289600
inserted disease: 185900 OMIM #185900 CHROMOSOME 2q35 DUPLICATION SYNDROME;;SYNDACTYLY, TYPE I; SDTY1;;SD1;;ZYGODACTYLYCRANIOSYNOSTOSIS, PHILADELPHIA TYPE, INCLUDED
id in db is: 289601
inserted disease: 1258 ORPHA Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
id in db is: 289602
inserted disease: 610629 OMIM #610629 DIAMOND-BLACKFAN ANEMIA 3; DBA3
id in db is: 289603
inserted disease: 162000 OMIM #162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1;;HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ;;FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FJHN;;NEPHROPATHY, FAMILIAL, WITH GOUT;;GOUTY NEPHROPATHY, FAMILIAL JUVENILE
id in db is: 289604
inserted disease: 188000 OMIM THROMBOCYTOPENIA 2
id in db is: 289605
inserted disease: 302045 OMIM CARDIOMYOPATHY, DILATED, 3B
id in db is: 289606
inserted disease: 190100 OMIM %190100 GENIOSPASM 1; GSM1;;TREMBLING CHIN
id in db is: 289607
inserted disease: 608088 OMIM NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH ANDGASTROESOPHAGEAL REFLUX
id in db is: 289608
inserted disease: 302803 OMIM CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA
id in db is: 289609
inserted disease: 611926 OMIM IMMUNODEFICIENCY, GONADAL DYSGENESIS, AND PULMONARY FIBROSIS
id in db is: 289610
inserted disease: 1168 ORPHA Ataxia-oculomotor apraxia type 1
id in db is: 289611
inserted disease: 613603 OMIM #613603 CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME
id in db is: 289612
inserted disease: 1653 ORPHA Dentin dysplasia
id in db is: 289613
inserted disease: 238350 OMIM HYPERLEXIA
id in db is: 289614
inserted disease: 247630 OMIM 247630 LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE
id in db is: 289615
inserted disease: 155980 OMIM MEMBRANOUS CRANIAL OSSIFICATION, DELAYED
id in db is: 289616
inserted disease: 251909 ORPHA Pineoblastoma
id in db is: 289617
inserted disease: 300650 OMIM ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS
id in db is: 289618
inserted disease: 606995 OMIM SENIOR-LOKEN SYNDROME 3
id in db is: 289619
inserted disease: 351 ORPHA Galactosialidosis
id in db is: 289620
inserted disease: 613464 OMIM #613464 RETINITIS PIGMENTOSA 51; RP51
id in db is: 289621
inserted disease: 261 ORPHA Emery-Dreifuss muscular dystrophy
id in db is: 289622
inserted disease: 232800 OMIM GLYCOGEN STORAGE DISEASE VII
id in db is: 289623
inserted disease: 606519 OMIM PHACE ASSOCIATION
id in db is: 289624
inserted disease: 613495 OMIM #613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5;;ANTIBODY DEFICIENCY DUE TO CD20 DEFECT
id in db is: 289625
inserted disease: 217400 OMIM CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
id in db is: 289626
inserted disease: 97261 ORPHA GRFoma
id in db is: 289627
inserted disease: 183600 OMIM SPLIT-HAND/FOOT MALFORMATION 1; SHFM1
id in db is: 289628
inserted disease: 182280 OMIM SMALL CELL CANCER OF THE LUNG
id in db is: 289629
inserted disease: 211390 OMIM %211390 SABINAS BRITTLE HAIR SYNDROME;;BRITTLE HAIR AND MENTAL DEFICIT
id in db is: 289630
inserted disease: 231169 ORPHA Usher syndrome type 1
id in db is: 289631
inserted disease: 609528 OMIM #609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMASYNDROME;;CEDNIK SYNDROME
id in db is: 289632
inserted disease: 300814 OMIM #300814 NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6
id in db is: 289633
inserted disease: 302800 OMIM #302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1;;CMTX;;CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED;;HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED;;HMSN, X-LINKED;;CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1;;CMT2, FORMERLY
id in db is: 289634
inserted disease: 616481 OMIM CILIARY DYSKINESIA, PRIMARY, 32; CILD32
id in db is: 289635
inserted disease: 312780 OMIM RUSSELL-SILVER SYNDROME, X-LINKED
id in db is: 289636
inserted disease: 857 ORPHA Townes-Brocks syndrome
id in db is: 289637
inserted disease: 616471 OMIM #616471 BETHLEM MYOPATHY 2; BTHLM2
id in db is: 289638
inserted disease: 19 DECIPHER Potocki-Lupski syndrome (17p11.2 duplication syndrome)
id in db is: 289639
inserted disease: 606952 OMIM #606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B;;OCULOCUTANEOUS ALBINISM, TYPE IB;;ALBINISM, YELLOW MUTANT TYPE;;YELLOW ALBINISMALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED;;OCA1-TS, INCLUDED
id in db is: 289640
inserted disease: 616461 OMIM EPILEPSY, FAMILIAL TEMPORAL LOBE, 8; ETL8
id in db is: 289641
inserted disease: 1786 ORPHA Acrofacial dysostosis, Catania type
id in db is: 289642
inserted disease: 242150 OMIM ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS
id in db is: 289643
inserted disease: 141200 OMIM #141200 HEMATURIA, BENIGN FAMILIAL; BFH;;THIN-BASEMENT-MEMBRANE NEPHROPATHY;;THIN MEMBRANE NEPHROPATHY; TMN
id in db is: 289644
inserted disease: 614809 OMIM #614809 CFHR5 DEFICIENCY
id in db is: 289645
inserted disease: 614923 OMIM #614923 BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD;;BCKDK DEFICIENCY
id in db is: 289646
inserted disease: 254450 OMIM MYELOFIBROSIS
id in db is: 289647
inserted disease: 303350 OMIM MASA SYNDROME
id in db is: 289648
inserted disease: 202400 OMIM AFIBRINOGENEMIA, CONGENITALHYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED
id in db is: 289649
inserted disease: 176310 OMIM PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1
id in db is: 289650
inserted disease: 165800 OMIM #165800 OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;OD
id in db is: 289651
inserted disease: 146550 OMIM MARIE UNNA HEREDITARY HYPOTRICHOSIS 1
id in db is: 289652
inserted disease: 3241 ORPHA Deafness-craniofacial syndrome
id in db is: 289653
inserted disease: 270850 OMIM SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION
id in db is: 289654
inserted disease: 1515 ORPHA Cranioectodermal dysplasia
id in db is: 289655
inserted disease: 606056 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B
id in db is: 289656
inserted disease: 611936 OMIM #611936 CHROMOSOME 3q29 DUPLICATION SYNDROME;;MICRODUPLICATION 3q29 SYNDROME
id in db is: 289657
inserted disease: 616494 OMIM LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11
id in db is: 289658
inserted disease: 222350 OMIM DIAMINOPENTANURIA
id in db is: 289659
inserted disease: 613029 OMIM #613029 GLIOMA SUSCEPTIBILITY 3; GLM3
id in db is: 289660
inserted disease: 300801 OMIM #300801 CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME
id in db is: 289661
inserted disease: 105805 OMIM ANEURYSM OF INTERVENTRICULAR SEPTUM
id in db is: 289662
inserted disease: 610143 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 62
id in db is: 289663
inserted disease: 608971 OMIM #608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-POSITIVE, NK CELL-POSITIVE;;SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
id in db is: 289664
inserted disease: 231630 OMIM GLUTAMATE MONOSODIUM SENSITIVITY
id in db is: 289665
inserted disease: 607859 OMIM ANGIOMA, TUFTED
id in db is: 289666
inserted disease: 224690 OMIM #224690 MEIER-GORLIN SYNDROME 1; MGORS1;;EAR, PATELLA, SHORT STATURE SYNDROME; EPS;;MICROTIA, ABSENT PATELLAE, MICROGNATHIA SYNDROME;;MEIER-GORLIN SYNDROME
id in db is: 289667
inserted disease: 53296 ORPHA Familial cutaneous collagenoma
id in db is: 289668
inserted disease: 2248 ORPHA Hypoplastic left heart syndrome
id in db is: 289669
inserted disease: 107320 OMIM ANTIPHOSPHOLIPID SYNDROME
id in db is: 289670
inserted disease: 210050 OMIM BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION
id in db is: 289671
inserted disease: 264420 OMIM FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM
id in db is: 289672
inserted disease: 610019 OMIM #610019 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2; CATC2
id in db is: 289673
inserted disease: 614920 OMIM #614920 PEROXISOME BIOGENESIS DISORDER 14B; PEX14B
id in db is: 289674
inserted disease: 185600 OMIM SYMPHALANGISM OF TOES
id in db is: 289675
inserted disease: 614338 OMIM %614338 PANCREATIC LIPASE DEFICIENCY; PNLIPD;;LIPASE, CONGENITAL ABSENCE OF PANCREATIC;;PL DEFICIENCYPANCREATIC COLIPASE DEFICIENCY, INCLUDED;;COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED;;LIPASE AND COLIPASE, DEFICIENCY OF, INCLUDED;;LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED
id in db is: 289676
inserted disease: 613611 OMIM #613611 CHOANAL ATRESIA AND LYMPHEDEMA
id in db is: 289677
inserted disease: 190410 OMIM 190410 TRIGGER THUMB
id in db is: 289678
inserted disease: 156520 OMIM %156520 METATARSUS VARUS, TYPE I
id in db is: 289679
inserted disease: 2655 ORPHA Thanatophoric dysplasia
id in db is: 289680
inserted disease: 114450 OMIM CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE
id in db is: 289681
inserted disease: 300605 ORPHA Juvenile amyotrophic lateral sclerosis
id in db is: 289682
inserted disease: 608984 OMIM ATAXIA, SENSORY, AUTOSOMAL DOMINANT
id in db is: 289683
inserted disease: 615957 OMIM SPINOCEREBELLAR ATAXIA 38; SCA38
id in db is: 289684
inserted disease: 300055 OMIM MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
id in db is: 289685
inserted disease: 613958 OMIM #613958 SPERMATOGENIC FAILURE 9; SPGF9;;GLOBOZOOSPERMIA, COMPLETE;;GLOBOZOOSPERMIA, TOTAL
id in db is: 289686
inserted disease: 188025 OMIM #188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT;;CHROMOSOME 11q23 DELETION SYNDROME
id in db is: 289687
inserted disease: 1548 ORPHA Cryptorchidism-arachnodactyly-intellectual disability syndrome
id in db is: 289688
inserted disease: 113750 OMIM #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4;;SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKINALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED; OCA6, INCLUDED
id in db is: 289689
inserted disease: 26 ORPHA Methylmalonic acidemia with homocystinuria
id in db is: 289690
inserted disease: 636 ORPHA Neurofibromatosis type 1
id in db is: 289691
inserted disease: 605814 OMIM #605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET;;CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD
id in db is: 289692
inserted disease: 613912 OMIM #613912 COMPLEMENT FACTOR D DEFICIENCY; CFDD;;FACTOR D DEFICIENCY
id in db is: 289693
inserted disease: 600771 OMIM %600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS
id in db is: 289694
inserted disease: 193100 OMIM HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
id in db is: 289695
inserted disease: 311000 OMIM OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA
id in db is: 289696
inserted disease: 600955 OMIM #600955 PROPROTEIN CONVERTASE 1/3 DEFICIENCY;;OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES
id in db is: 289697
inserted disease: 205250 OMIM AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES
id in db is: 289698
inserted disease: 186300 OMIM SYNDACTYLY, TYPE V
id in db is: 289699
inserted disease: 615807 OMIM SECKEL SYNDROME 8; SCKL8
id in db is: 289700
inserted disease: 611762 OMIM FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2
id in db is: 289701
inserted disease: 204870 OMIM #204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD;;CDGDL;;AMYLOIDOSIS, CORNEAL;;AMYLOID CORNEAL DYSTROPHY, JAPANESE TYPE;;CORNEAL DYSTROPHY, LATTICE TYPE III;;LATTICE CORNEAL DYSTROPHY, TYPE III
id in db is: 289702
inserted disease: 603965 OMIM #603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2;;GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 2
id in db is: 289703
inserted disease: 601668 OMIM 601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; SEMDAD
id in db is: 289704
inserted disease: 124100 OMIM DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY
id in db is: 289705
inserted disease: 608687 OMIM SPINOCEREBELLAR ATAXIA 20
id in db is: 289706
inserted disease: 615185 OMIM #615185 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F; CMTDIF
id in db is: 289707
inserted disease: 171719 ORPHA Cutis laxa-Marfanoid syndrome
id in db is: 289708
inserted disease: 146390 OMIM CHROMOSOME 18p DELETION SYNDROME
id in db is: 289709
inserted disease: 59 ORPHA Allan-Herndon-Dudley syndrome
id in db is: 289710
inserted disease: 136400 OMIM FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA
id in db is: 289711
inserted disease: 1106 ORPHA Microphthalmia with limb anomalies
id in db is: 289712
inserted disease: 1173 ORPHA Cerebellar ataxia-hypogonadism syndrome
id in db is: 289713
inserted disease: 710 ORPHA Pfeiffer syndrome
id in db is: 289714
inserted disease: 313855 ORPHA FGFR2-related bent bone dysplasia
id in db is: 289715
inserted disease: 601809 OMIM SPONDYLOSPINAL THORACIC DYSOSTOSIS
id in db is: 289716
inserted disease: 164180 OMIM OCULOCEREBROCUTANEOUS SYNDROME
id in db is: 289717
inserted disease: 168569 ORPHA H syndrome
id in db is: 289718
inserted disease: 267450 OMIM #267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS;;RDS OF PREMATURITY;;HYALINE MEMBRANE DISEASE, FORMERLY
id in db is: 289719
inserted disease: 608340 OMIM #608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA;;CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A;;RI-CMTA
id in db is: 289720
inserted disease: 1767 ORPHA Familial progressive vestibulocochlear dysfunction
id in db is: 289721
inserted disease: 189300 OMIM TONGUE CURLING, FOLDING, OR ROLLINGCLOVERLEAF TONGUE, INCLUDED
id in db is: 289722
inserted disease: 616668 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X
id in db is: 289723
inserted disease: 615771 OMIM CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6
id in db is: 289724
inserted disease: 255140 OMIM 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA
id in db is: 289725
inserted disease: 314000 OMIM THROMBOCYTOPENIA WITH ELEVATED SERUM IGA AND RENAL DISEASE
id in db is: 289726
inserted disease: 35688 ORPHA Madelung deformity
id in db is: 289727
inserted disease: 2092 ORPHA Focal dermal hypoplasia
id in db is: 289728
inserted disease: 247650 OMIM LYMPHOKINE DEFICIENCY
id in db is: 289729
inserted disease: 1394 ORPHA Cerebro-facio-thoracic dysplasia
id in db is: 289730
inserted disease: 294 ORPHA Fetal cytomegalovirus syndrome
id in db is: 289731
inserted disease: 931 ORPHA Acheiropodia
id in db is: 289732
inserted disease: 616039 OMIM CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID
id in db is: 289733
inserted disease: 614164 OMIM %614164 GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD
id in db is: 289734
inserted disease: 308830 OMIM KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY
id in db is: 289735
inserted disease: 612626 OMIM #612626 CHROMOSOME 15q26-qter DELETION SYNDROME;;DRAYER SYNDROME
id in db is: 289736
inserted disease: 304030 OMIM 304030 CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN
id in db is: 289737
inserted disease: 257150 OMIM NEUTROPHIL ACTIN DYSFUNCTION
id in db is: 289738
inserted disease: 1988 ORPHA Femoral-facial syndrome
id in db is: 289739
inserted disease: 156200 OMIM #156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED
id in db is: 289740
inserted disease: 276904 OMIM USHER SYNDROME, TYPE IC
id in db is: 289741
inserted disease: 611465 OMIM #611465 GALLBLADDER DISEASE 4; GBD4
id in db is: 289742
inserted disease: 615633 OMIM #615633 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11
id in db is: 289743
inserted disease: 249660 OMIM MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES
id in db is: 289744
inserted disease: 615300 OMIM #615300 PERRAULT SYNDROME 4; PRLTS4
id in db is: 289745
inserted disease: 622 ORPHA Homocystinuria without methylmalonic aciduria
id in db is: 289746
inserted disease: 182900 OMIM SPHEROCYTOSIS, HEREDITARY
id in db is: 289747
inserted disease: 601348 OMIM 601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
id in db is: 289748
inserted disease: 231226 ORPHA Dominant beta-thalassemia
id in db is: 289749
inserted disease: 191100 OMIM TUBEROUS SCLEROSIS 1; TSC1
id in db is: 289750
inserted disease: 109650 OMIM BEHCET SYNDROME
id in db is: 289751
inserted disease: 184900 OMIM STIFF SKIN SYNDROME
id in db is: 289752
inserted disease: 156510 OMIM METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY
id in db is: 289753
inserted disease: 601358 OMIM NICOLAIDES-BARAITSER SYNDROME; NCBRS
id in db is: 289754
inserted disease: 606367 OMIM #606367 IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41;;INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF;;IL2RA DEFICIENCY;;CD25 DEFICIENCY
id in db is: 289755
inserted disease: 2760 ORPHA OSLAM syndrome
id in db is: 289756
inserted disease: 114140 OMIM CALLOSITIES, HEREDITARY PAINFUL
id in db is: 289757
inserted disease: 169200 OMIM PECHET FACTOR DEFICIENCY
id in db is: 289758
inserted disease: 613451 OMIM FRONTONASAL DYSPLASIA 2; FND2
id in db is: 289759
inserted disease: 168820 OMIM PARAOXONASE 1
id in db is: 289760
inserted disease: 174000 OMIM MEDULLARY CYSTIC KIDNEY DISEASE 1
id in db is: 289761
inserted disease: 609053 OMIM #609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
id in db is: 289762
inserted disease: 218400 OMIM #218400 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR
id in db is: 289763
inserted disease: 245180 OMIM KIFAFA SEIZURE DISORDER
id in db is: 289764
inserted disease: 300539 OMIM NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
id in db is: 289765
inserted disease: 176000 OMIM #176000 PORPHYRIA, ACUTE INTERMITTENT;;AIP;;PORPHYRIA, SWEDISH TYPE;;PORPHOBILINOGEN DEAMINASE DEFICIENCY;;PBGD DEFICIENCY;;UROPORPHYRINOGEN SYNTHASE DEFICIENCY;;UPS DEFICIENCYPORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED;;PORPHYRIA, CHESTER TYPE, INCLUDED; PORC, INCLUDED
id in db is: 289766
inserted disease: 609227 OMIM #609227 GRISCELLI SYNDROME, TYPE 3; GS3
id in db is: 289767
inserted disease: 613794 OMIM #613794 RETINITIS PIGMENTOSA 20; RP20
id in db is: 289768
inserted disease: 75857 ORPHA 6q terminal deletion syndrome
id in db is: 289769
inserted disease: 277410 OMIM #277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE;;METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPEHOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED;;METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED;;METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY;;METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY
id in db is: 289770
inserted disease: 616311 OMIM #616311 MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33
id in db is: 289771
inserted disease: 1327 ORPHA Camptodactyly syndrome, Guadalajara type 1
id in db is: 289772
inserted disease: 99797 ORPHA Anodontia
id in db is: 289773
inserted disease: 600461 OMIM HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL ANDOTHER ABNORMALITIES
id in db is: 289774
inserted disease: 268130 OMIM #268130 REVESZ SYNDROME;;EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
id in db is: 289775
inserted disease: 85203 ORPHA Acro-pectoral syndrome
id in db is: 289776
inserted disease: 99971 ORPHA Well-differentiated liposarcoma
id in db is: 289777
inserted disease: 118301 OMIM 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM
id in db is: 289778
inserted disease: 202550 OMIM AGANGLIONOSIS, TOTAL INTESTINAL
id in db is: 289779
inserted disease: 615978 OMIM #615978 IMMUNODEFICIENCY 27B; IMD27B ;;IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;; IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT
id in db is: 289780
inserted disease: 1308 ORPHA C syndrome
id in db is: 289781
inserted disease: 161000 OMIM #161000 NAEGELI SYNDROME;;NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME;;NFJ SYNDROME; NFJS
id in db is: 289782
inserted disease: 169500 OMIM LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD
id in db is: 289783
inserted disease: 309200 OMIM MAJOR AFFECTIVE DISORDER 2
id in db is: 289784
inserted disease: 189000 OMIM TOE, FIFTH, NUMBER OF PHALANGES IN
id in db is: 289785
inserted disease: 103920 OMIM ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS
id in db is: 289786
inserted disease: 107640 OMIM APNEA, CENTRAL SLEEP
id in db is: 289787
inserted disease: 600794 OMIM #600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A;;HMN VA;;NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; DHMN5A;;DHMN VA;;SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VA; DSMAVA;;SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH UPPER LIMB PREDOMINANCE
id in db is: 289788
inserted disease: 614462 OMIM PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD
id in db is: 289789
inserted disease: 615028 OMIM #615028 EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE; EBNS
id in db is: 289790
inserted disease: 609340 OMIM #609340 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28
id in db is: 289791
inserted disease: 176630 OMIM 176630 PRIMARY RELEASE DISORDER OF PLATELETS
id in db is: 289792
inserted disease: 278740 OMIM XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
id in db is: 289793
inserted disease: 3034 ORPHA Delayed membranous cranial ossification
id in db is: 289794
inserted disease: 270550 OMIM SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
id in db is: 289795
inserted disease: 278730 OMIM XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
id in db is: 289796
inserted disease: 607516 OMIM MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6
id in db is: 289797
inserted disease: 613339 OMIM EPILEPSY, HOT WATER, 1; HWE1
id in db is: 289798
inserted disease: 94065 ORPHA 15q24 microdeletion syndrome
id in db is: 289799
inserted disease: 164330 OMIM ODONTOMA-DYSPHAGIA SYNDROME
id in db is: 289800
inserted disease: 444051 ORPHA 20q11.2 microdeletion syndrome
id in db is: 289801
inserted disease: 2522 ORPHA Microcephaly-cervical spine fusion anomalies syndrome
id in db is: 289802
inserted disease: 79168 ORPHA Disorder of bile acid synthesis
id in db is: 289803
inserted disease: 139402 ORPHA Drug rash with eosinophilia and systemic symptoms
id in db is: 289804
inserted disease: 614175 OMIM #614175 MECKEL SYNDROME, TYPE 10; MKS10
id in db is: 289805
inserted disease: 616323 OMIM MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C
id in db is: 289806
inserted disease: 18 DECIPHER 1p36 microdeletion syndrome
id in db is: 289807
inserted disease: 236660 OMIM HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS
id in db is: 289808
inserted disease: 613625 OMIM #613625 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2
id in db is: 289809
inserted disease: 616313 OMIM MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A
id in db is: 289810
inserted disease: 616300 OMIM SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13
id in db is: 289811
inserted disease: 1358 ORPHA Carey-Fineman-Ziter  syndrome
id in db is: 289812
inserted disease: 612900 OMIM #612900 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2
id in db is: 289813
inserted disease: 212070 OMIM CARBOXYPEPTIDASE N DEFICIENCY
id in db is: 289814
inserted disease: 610628 OMIM HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4
id in db is: 289815
inserted disease: 91385 ORPHA Acquired angioedema
id in db is: 289816
inserted disease: 202700 OMIM #202700 NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1
id in db is: 289817
inserted disease: 605355 OMIM #605355 NEMALINE MYOPATHY 5; NEM5;;NEMALINE MYOPATHY, AMISH TYPE; ANM;;AMISH NEMALINE MYOPATHY
id in db is: 289818
inserted disease: 601942 OMIM DIABETES MELLITUS, INSULIN-DEPENDENT, 10
id in db is: 289819
inserted disease: 149700 OMIM LACRIMAL DUCT DEFECT; LCDD
id in db is: 289820
inserted disease: 615348 OMIM #615348 NEMALINE MYOPATHY 8; NEM8
id in db is: 289821
inserted disease: 178330 OMIM PTOSIS, STRABISMUS, AND ECTOPIC PUPILS
id in db is: 289822
inserted disease: 1529 ORPHA Craniofacial-deafness-hand syndrome
id in db is: 289823
inserted disease: 611603 OMIM #611603 LISSENCEPHALY 3; LIS3
id in db is: 289824
inserted disease: 1256 ORPHA Blepharophimosis-radioulnar synostosis syndrome
id in db is: 289825
inserted disease: 1239 ORPHA Behr syndrome
id in db is: 289826
inserted disease: 612462 OMIM #612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C;;PHP IC
id in db is: 289827
inserted disease: 216700 OMIM COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING
id in db is: 289828
inserted disease: 601494 OMIM #601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D;;LEFT VENTRICULAR NONCOMPACTION 6, INCLUDED; LVNC6, INCLUDED
id in db is: 289829
inserted disease: 309520 OMIM #309520 LUJAN-FRYNS SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS
id in db is: 289830
inserted disease: 610329 OMIM AICARDI-GOUTIERES SYNDROME 3; AGS3
id in db is: 289831
inserted disease: 3307 ORPHA Tetrasomy 18p
id in db is: 289832
inserted disease: 71267 ORPHA Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
id in db is: 289833
inserted disease: 108950 OMIM ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL
id in db is: 289834
inserted disease: 206100 OMIM ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD
id in db is: 289835
inserted disease: 207731 OMIM APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA
id in db is: 289836
inserted disease: 140976 ORPHA RHYNS syndrome
id in db is: 289837
inserted disease: 175 ORPHA Cartilage-hair hypoplasia
id in db is: 289838
inserted disease: 174310 OMIM POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
id in db is: 289839
inserted disease: 3205 ORPHA Sturge-Weber syndrome
id in db is: 289840
inserted disease: 186600 OMIM SYRINGOMAS, MULTIPLE
id in db is: 289841
inserted disease: 233650 OMIM COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
id in db is: 289842
inserted disease: 212093 OMIM CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
id in db is: 289843
inserted disease: 603194 OMIM #603194 MECKEL SYNDROME, TYPE 2; MKS2;;MECKEL-GRUBER SYNDROME, TYPE 2
id in db is: 289844
inserted disease: 608836 OMIM #608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL;;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL;;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL;;CPT II DEFICIENCY, LETHAL NEONATAL;;CPT2 DEFICIENCY, LETHAL NEONATAL
id in db is: 289845
inserted disease: 313000 OMIM SPATIAL VISUALIZATION, APTITUDE FOR
id in db is: 289846
inserted disease: 615809 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9
id in db is: 289847
inserted disease: 254770 OMIM #254770 EPILEPSY, MYOCLONIC JUVENILE; EJM;;MYOCLONIC EPILEPSY, JUVENILE; JME;;PETIT MAL, IMPULSIVE;;JANZ SYNDROMEMYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1, INCLUDED; EJM1,INCLUDED
id in db is: 289848
inserted disease: 610797 OMIM EPIPHYSEAL DYSPLASIA, BAUMANN TYPE
id in db is: 289849
inserted disease: 612475 OMIM #612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME
id in db is: 289850
inserted disease: 240150 OMIM 240150 HYPERVITAMINOSIS A, SUSCEPTIBILITY TO
id in db is: 289851
inserted disease: 614623 OMIM %614623 KERATOCONUS 6; KTCN6
id in db is: 289852
inserted disease: 103470 OMIM #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS;;WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA
id in db is: 289853
inserted disease: 166800 OMIM OTOSCLEROSIS
id in db is: 289854
inserted disease: 309555 OMIM MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
id in db is: 289855
inserted disease: 614152 OMIM #614152 DEAFNESS, AUTOSOMAL DOMINANT 64; DFNA64
id in db is: 289856
inserted disease: 108330 OMIM CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1
id in db is: 289857
inserted disease: 308990 OMIM PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
id in db is: 289858
inserted disease: 91133 ORPHA Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
id in db is: 289859
inserted disease: 612946 OMIM %612946 HADZISELIMOVIC SYNDROME;;MICROCEPHALY-FACIOCARDIOSKELETAL SYNDROME
id in db is: 289860
inserted disease: 436174 ORPHA Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
id in db is: 289861
inserted disease: 306500 OMIM GYNECOMASTIA, FAMILIAL
id in db is: 289862
inserted disease: 570 ORPHA Moebius syndrome
id in db is: 289863
inserted disease: 210370 OMIM #210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD;;BIETTI CRYSTALLINE DYSTROPHY;;BIETTI TAPETORETINAL DEGENERATION WITH MARGINAL CORNEAL DYSTROPHY
id in db is: 289864
inserted disease: 601003 OMIM BRODY MYOPATHY
id in db is: 289865
inserted disease: 2130 ORPHA Hemimelia
id in db is: 289866
inserted disease: 118610 OMIM 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION;;FAMILIAL APATITE DISEASE
id in db is: 289867
inserted disease: 225060 OMIM CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
id in db is: 289868
inserted disease: 606068 OMIM #606068 RETINITIS PIGMENTOSA 28; RP28
id in db is: 289869
inserted disease: 269921 OMIM #269921 SIALURIA;;SIALURIA, FRENCH TYPE
id in db is: 289870
inserted disease: 85410 ORPHA Oligoarticular juvenile arthritis
id in db is: 289871
inserted disease: 614187 OMIM %614187 HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS; HPPD
id in db is: 289872
inserted disease: 46 DECIPHER Split hand/foot malformation 1 (SHFM1)
id in db is: 289873
inserted disease: 609800 OMIM GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4; GEFSP4
id in db is: 289874
inserted disease: 613152 OMIM #613152 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4; MDDGB4;;MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
id in db is: 289875
inserted disease: 241150 OMIM %241150 HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY;;HYPOKALEMIA, FAMILIAL;;GULLNER SYNDROME
id in db is: 289876
inserted disease: 1068 ORPHA Aniridia-intellectual disability syndrome
id in db is: 289877
inserted disease: 249650 OMIM %249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU;;DISULFIDURIA, MIXED
id in db is: 289878
inserted disease: 148700 OMIM #148700 PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1;;KERATOSIS PALMOPLANTARIS STRIATA I;;STRIATE PALMOPLANTAR KERATODERMA I; SPPK1;;KERATODERMA, PALMOPLANTAR, STRIATE FORM I; KPPS1
id in db is: 289879
inserted disease: 77260 ORPHA Gaucher disease type 2
id in db is: 289880
inserted disease: 211380 OMIM BRACHIOSKELETOGENITAL SYNDROME
id in db is: 289881
inserted disease: 300068 OMIM ANDROGEN INSENSITIVITY SYNDROME; AIS
id in db is: 289882
inserted disease: 223360 OMIM #223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL;;NOREPINEPHRINE DEFICIENCY;;NORADRENALINE DEFICIENCY
id in db is: 289883
inserted disease: 277730 OMIM WERNICKE-KORSAKOFF SYNDROME
id in db is: 289884
inserted disease: 2232 ORPHA Primary hypergonadotropic hypogonadism-partial alopecia syndrome
id in db is: 289885
inserted disease: 271550 OMIM SPONDYLOENCHONDRODYSPLASIA
id in db is: 289886
inserted disease: 774 ORPHA Hereditary hemorrhagic telangiectasia
id in db is: 289887
inserted disease: 99885 ORPHA Permanent neonatal diabetes mellitus
id in db is: 289888
inserted disease: 170600 OMIM NORMOKALEMIC PERIODIC PARALYSIS
id in db is: 289889
inserted disease: 90790 ORPHA Congenital lipoid adrenal hyperplasia due to STAR deficency
id in db is: 289890
inserted disease: 100006 ORPHA ABeta amyloidosis, Dutch type
id in db is: 289891
inserted disease: 104311 OMIM PRESENILIN 1
id in db is: 289892
inserted disease: 133240 OMIM ESOPHAGEAL RING, LOWER
id in db is: 289893
inserted disease: 601471 OMIM FACIAL PARESIS, HEREDITARY CONGENITAL, 1; HCFP1
id in db is: 289894
inserted disease: 166100 ORPHA Stickler syndrome type 3
id in db is: 289895
inserted disease: 182290 OMIM #182290 SMITH-MAGENIS SYNDROME; SMS;;CHROMOSOME 17p11.2 DELETION SYNDROMESMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED
id in db is: 289896
inserted disease: 247640 OMIM LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES
id in db is: 289897
inserted disease: 93351 ORPHA Spondyloepimetaphyseal dysplasia, Irapa type
id in db is: 289898
inserted disease: 893 ORPHA WAGR syndrome
id in db is: 289899
inserted disease: 251750 OMIM #251750 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITHOR WITHOUT SECONDARY GLAUCOMA; MSPKA
id in db is: 289900
inserted disease: 150800 OMIM #150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC;;MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1;;LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;;LEIOMYOMA, MULTIPLE CUTANEOUS; MCL
id in db is: 289901
inserted disease: 603829 OMIM #603829 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITYTO;;VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1
id in db is: 289902
inserted disease: 614326 OMIM #614326 FEINGOLD SYNDROME 2; FGLDS2;;BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY
id in db is: 289903
inserted disease: 724 ORPHA Idiopathic acute eosinophilic pneumonia
id in db is: 289904
inserted disease: 300640 OMIM #300640 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2
id in db is: 289905
inserted disease: 616038 OMIM NEU-LAXOVA SYNDROME 2; NLS2
id in db is: 289906
inserted disease: 791 ORPHA Retinitis pigmentosa
id in db is: 289907
inserted disease: 612649 OMIM #612649 CILIARY DYSKINESIA, PRIMARY, 11; CILD11
id in db is: 289908
inserted disease: 615162 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35; MRT35
id in db is: 289909
inserted disease: 251071 ORPHA 8p23.1 microdeletion syndrome
id in db is: 289910
inserted disease: 614945 OMIM #614945 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
id in db is: 289911
inserted disease: 300803 OMIM #300803 MENTAL RETARDATION, X-LINKED 97; MRX97;;MRXZ
id in db is: 289912
inserted disease: 221350 OMIM DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA
id in db is: 289913
inserted disease: 229850 OMIM %229850 FRYNS SYNDROME; FRNS;;DIAPHRAGMATIC HERNIA, ABNORMAL FACE, AND DISTAL LIMB ANOMALIES
id in db is: 289914
inserted disease: 231950 OMIM GLUTATHIONURIA
id in db is: 289915
inserted disease: 102150 OMIM ACROMEGALOID FACIAL APPEARANCE SYNDROME
id in db is: 289916
inserted disease: 3103 ORPHA Roberts syndrome
id in db is: 289917
inserted disease: 190400 OMIM 190400 TRIGEMINAL NEURALGIA;;TIC DOULOUREUX
id in db is: 289918
inserted disease: 253601 OMIM #253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3; LGMD3
id in db is: 289919
inserted disease: 945 ORPHA Acalvaria
id in db is: 289920
inserted disease: 50811 ORPHA Lipodystrophy-intellectual disability-deafness syndrome
id in db is: 289921
inserted disease: 302801 OMIM CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2
id in db is: 289922
inserted disease: 616026 OMIM FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4
id in db is: 289923
inserted disease: 108985 OMIM SVEINSSON CHORIORETINAL ATROPHY
id in db is: 289924
inserted disease: 183900 OMIM #183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC;;SED CONGENITA;;SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
id in db is: 289925
inserted disease: 189439 ORPHA Primary pigmented nodular adrenocortical disease
id in db is: 289926
inserted disease: 70567 ORPHA Cholangiocarcinoma
id in db is: 289927
inserted disease: 192445 OMIM VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE
id in db is: 289928
inserted disease: 610913 OMIM #610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2;;INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY;;DESQUAMATIVE INTERSTITIAL PNEUMONITIS DUE TO SURFACTANT PROTEIN CDEFICIENCY;;PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2
id in db is: 289929
inserted disease: 168500 OMIM PARIETAL FORAMINA
id in db is: 289930
inserted disease: 612923 OMIM #612923 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3;;AHUS, SUSCEPTIBILITY TO, 3
id in db is: 289931
inserted disease: 308200 OMIM ICHTHYOSIS AND MALE HYPOGONADISM;;RUD SYNDROME, INCLUDED
id in db is: 289932
inserted disease: 310300 OMIM EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED
id in db is: 289933
inserted disease: 600348 OMIM BAND HETEROTOPIA OF BRAIN
id in db is: 289934
inserted disease: 113475 OMIM 113475 BRACHYMETATARSUS IV;;METATARSUS IV, SHORT;;TOE, FOURTH, SHORT
id in db is: 289935
inserted disease: 300033 OMIM MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7
id in db is: 289936
inserted disease: 213 ORPHA Cystinosis
id in db is: 289937
inserted disease: 273250 OMIM TESTICULAR REGRESSION SYNDROME
id in db is: 289938
inserted disease: 156830 OMIM MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL
id in db is: 289939
inserted disease: 553 ORPHA Cushing syndrome
id in db is: 289940
inserted disease: 611638 OMIM #611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5
id in db is: 289941
inserted disease: 280 ORPHA Wolf-Hirschhorn syndrome
id in db is: 289942
inserted disease: 607330 OMIM #607330 LATHOSTEROLOSIS;;STEROL C5-DESATURASE DEFICIENCY;;SC5D DEFICIENCY
id in db is: 289943
inserted disease: 83601 ORPHA Steroid-responsive encephalopathy associated with autoimmune thyroiditis
id in db is: 289944
inserted disease: 612165 OMIM %612165 RETINITIS PIGMENTOSA 29; RP29
id in db is: 289945
inserted disease: 314320 OMIM TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY
id in db is: 289946
inserted disease: 303800 OMIM COLORBLINDNESS, PARTIAL, DEUTAN SERIES
id in db is: 289947
inserted disease: 1187 ORPHA Lethal ataxia with deafness and optic atrophy
id in db is: 289948
inserted disease: 2572 ORPHA Spastic ataxia-corneal dystrophy syndrome
id in db is: 289949
inserted disease: 216550 OMIM #216550 COHEN SYNDROME; COH1;;COH;;HYPOTONIA, OBESITY, AND PROMINENT INCISORS;;PEPPER SYNDROME;;CHS1, FORMERLY
id in db is: 289950
inserted disease: 612304 OMIM #612304 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4;;PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE;;PROC DEFICIENCY, AUTOSOMAL RECESSIVE
id in db is: 289951
inserted disease: 300385 ORPHA Pituitary carcinoma
id in db is: 289952
inserted disease: 551 ORPHA MERRF
id in db is: 289953
inserted disease: 601894 OMIM #601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2;;GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS;;FIBRONECTIN GLOMERULOPATHY
id in db is: 289954
inserted disease: 93346 ORPHA Spondyloepimetaphyseal dysplasia congenita, Strudwick type
id in db is: 289955
inserted disease: 185050 OMIM STORAGE POOL PLATELET DISEASE
id in db is: 289956
inserted disease: 106995 OMIM %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES;;COOKS SYNDROME
id in db is: 289957
inserted disease: 613659 OMIM #613659 GASTRIC CANCERGASTRIC CANCER, INTESTINAL, INCLUDED
id in db is: 289958
inserted disease: 408 ORPHA Isolated glycerol kinase deficiency
id in db is: 289959
inserted disease: 300612 OMIM %300612 BROOKS-WISNIEWSKI-BROWN SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE;MRXSBWB
id in db is: 289960
inserted disease: 603786 OMIM #603786 STARGARDT DISEASE 4; STGD4
id in db is: 289961
inserted disease: 231050 OMIM #231050 GELEOPHYSIC DYSPLASIA 1; GPHYSD1
id in db is: 289962
inserted disease: 50812 ORPHA Zellweger-like syndrome without peroxisomal anomalies
id in db is: 289963
inserted disease: 176960 OMIM PROTEIN KINASE C, ALPHA
id in db is: 289964
inserted disease: 614617 OMIM %614617 DEAFNESS, AUTOSOMAL RECESSIVE 86; DFNB86
id in db is: 289965
inserted disease: 2001 ORPHA Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
id in db is: 289966
inserted disease: 99867 ORPHA Thymoma
id in db is: 289967
inserted disease: 614199 OMIM #614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;NPHS5
id in db is: 289968
inserted disease: 3437 ORPHA Vogt-Koyanagi-Harada disease
id in db is: 289969
inserted disease: 154750 OMIM 154750 MARFANOID HYPERMOBILITY SYNDROME
id in db is: 289970
inserted disease: 606703 OMIM #606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM
id in db is: 289971
inserted disease: 615224 OMIM #615224 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2
id in db is: 289972
inserted disease: 142309 OMIM HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION ISUNKNOWN OR UNCERTAIN
id in db is: 289973
inserted disease: 254351 ORPHA Distal 7q11.23 microdeletion syndrome
id in db is: 289974
inserted disease: 229310 OMIM 229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA
id in db is: 289975
inserted disease: 88639 ORPHA Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
id in db is: 289976
inserted disease: 242890 OMIM IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW
id in db is: 289977
inserted disease: 612227 OMIM DIABETES MELLITUS, KETOSIS-PRONE; KPD
id in db is: 289978
inserted disease: 615722 OMIM #615722 BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS
id in db is: 289979
inserted disease: 300114 OMIM %300114 MENTAL RETARDATION, X-LINKED 49; MRX49
id in db is: 289980
inserted disease: 100008 ORPHA ACys amyloidosis
id in db is: 289981
inserted disease: 90157 ORPHA Drug-induced localized lipodystrophy
id in db is: 289982
inserted disease: 300194 OMIM ALPORT SYNDROME - INTELLECTUAL DISABILITY - MIDFACE HYPOPLASIA - ELLIPTOCYTOSIS
id in db is: 289983
inserted disease: 3191 ORPHA Subaortic stenosis-short stature syndrome
id in db is: 289984
inserted disease: 99976 ORPHA Adenocarcinoma of esophagus
id in db is: 289985
inserted disease: 613616 OMIM #613616 HYPEROXALURIA, PRIMARY, TYPE III; HP3
id in db is: 289986
inserted disease: 246200 OMIM #246200 DONOHUE SYNDROME;;LEPRECHAUNISMINSULIN RECEPTOR, DEFECT IN, INCLUDED
id in db is: 289987
inserted disease: 613830 OMIM #613830 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D;;CSNB, COMPLETE, AUTOSOMAL RECESSIVE
id in db is: 289988
inserted disease: 293168 ORPHA Infantile-onset ascending hereditary spastic paralysis
id in db is: 289989
inserted disease: 260350 OMIM PANCREATIC CANCER
id in db is: 289990
inserted disease: 145300 OMIM HYPERSENSITIVITY PNEUMONITIS, FAMILIAL
id in db is: 289991
inserted disease: 219400 OMIM 219400 CYANOSIS AND HEPATIC DISEASE
id in db is: 289992
inserted disease: 162270 OMIM NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI
id in db is: 289993
inserted disease: 3232 ORPHA Deafness-ear malformation-facial palsy syndrome
id in db is: 289994
inserted disease: 601075 OMIM APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION
id in db is: 289995
inserted disease: 442 ORPHA Congenital hypothyroidism
id in db is: 289996
inserted disease: 108450 OMIM 108450 ASYMMETRIC SHORT STATURE SYNDROME
id in db is: 289997
inserted disease: 145410 OMIM OPITZ GBBB SYNDROME, TYPE II; GBBB2
id in db is: 289998
inserted disease: 109130 OMIM AXIAL OSTEOMALACIA
id in db is: 289999
inserted disease: 191600 OMIM URETER, CANCER OF
id in db is: 290000
inserted disease: 162380 OMIM NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL
id in db is: 290001
inserted disease: 613118 OMIM ANTITHROMBIN III DEFICIENCY; AT3D
id in db is: 290002
inserted disease: 616723 OMIM #616723 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PROGRESSIVE, WITH SHORT STATURE,FACIAL DYSMORPHISM, SHORT FOURTH METATARSALS, AND MENTAL RETARDATION,WITH OR WITHOUT CRANIOSYNOSTOSIS
id in db is: 290003
inserted disease: 229200 OMIM BRITTLE CORNEA SYNDROME
id in db is: 290004
inserted disease: 273000 OMIM TEETH, FUSED
id in db is: 290005
inserted disease: 309930 OMIM MUSCULAR DYSTROPHY, CARDIAC TYPE
id in db is: 290006
inserted disease: 614831 OMIM #614831 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13
id in db is: 290007
inserted disease: 607200 OMIM THYROID DYSHORMONOGENESIS 6; TDH6
id in db is: 290008
inserted disease: 248700 OMIM MARDEN-WALKER SYNDROME; MWKS
id in db is: 290009
inserted disease: 56425 ORPHA Cold agglutinin disease
id in db is: 290010
inserted disease: 224100 OMIM ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
id in db is: 290011
inserted disease: 105563 OMIM 105563 ANAL SPHINCTER DYSPLASIA; ASDP
id in db is: 290012
inserted disease: 174600 OMIM %174600 POLYDACTYLY, PREAXIAL III;;INDEX FINGER POLYDACTYLY
id in db is: 290013
inserted disease: 250220 OMIM #250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS;;SEDAGHATIAN CHONDRODYSPLASIA;;METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL
id in db is: 290014
inserted disease: 614654 OMIM #614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5
id in db is: 290015
inserted disease: 147800 OMIM AASE-SMITH SYNDROME I
id in db is: 290016
inserted disease: 213400 OMIM CEREBELLOPARENCHYMAL DISORDER V
id in db is: 290017
inserted disease: 69126 ORPHA Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
id in db is: 290018
inserted disease: 112500 OMIM #112500 BRACHYDACTYLY, TYPE A1; BDA1;;FARABEE-TYPE BRACHYDACTYLY
id in db is: 290019
inserted disease: 601390 OMIM VAN MALDERGEM SYNDROME 1; VMLDS1
id in db is: 290020
inserted disease: 647 ORPHA Nijmegen breakage syndrome
id in db is: 290021
inserted disease: 135580 OMIM FIBROMUSCULAR DYSPLASIA OF ARTERIES
id in db is: 290022
inserted disease: 616546 OMIM #616546 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14
id in db is: 290023
inserted disease: 182230 OMIM SEPTOOPTIC DYSPLASIA
id in db is: 290024
inserted disease: 180900 OMIM RUTHERFURD SYNDROME
id in db is: 290025
inserted disease: 219721 OMIM 219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTICANEMIA, AND MENTAL RETARDATION
id in db is: 290026
inserted disease: 151001 OMIM LENTIGINOSIS, INHERITED PATTERNED
id in db is: 290027
inserted disease: 3471 ORPHA Young syndrome
id in db is: 290028
inserted disease: 614009 OMIM #614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13;;BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANEA2 RECEPTOR
id in db is: 290029
inserted disease: 53721 ORPHA Cobb syndrome
id in db is: 290030
inserted disease: 613091 OMIM #613091 SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3;;ASPHYXIATING THORACIC DYSTROPHY 3; ATD3;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE I; SRPS1;;SALDINO-NOONAN SYNDROME;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE III; SRPS3;;VERMA-NAUMOFF SYNDROME;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB; SRPS2B
id in db is: 290031
inserted disease: 164800 OMIM %164800 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5; NDNC5;;ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA;;ONYCHOLYSIS, HEREDITARY DISTAL
id in db is: 290032
inserted disease: 2253 ORPHA Foveal hypoplasia-presenile cataract syndrome
id in db is: 290033
inserted disease: 611095 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9; MRT9
id in db is: 290034
inserted disease: 333 ORPHA Farber disease
id in db is: 290035
inserted disease: 615401 OMIM #615401 IMMUNODEFICIENCY 8; IMD8
id in db is: 290036
inserted disease: 228399 ORPHA 8q12 microduplication syndrome
id in db is: 290037
inserted disease: 616335 OMIM MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3
id in db is: 290038
inserted disease: 346 ORPHA Quinquaud's folliculitis decalvans
id in db is: 290039
inserted disease: 268300 OMIM #268300 ROBERTS SYNDROME; RBS;;LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
id in db is: 290040
inserted disease: 33 ORPHA Isovaleric acidemia
id in db is: 290041
inserted disease: 1186 ORPHA Infantile onset spinocerebellar ataxia
id in db is: 290042
inserted disease: 616042 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 103; DFNB103
id in db is: 290043
inserted disease: 85279 ORPHA Syndromic X-linked intellectual disability due to JARID1C mutation
id in db is: 290044
inserted disease: 252011 OMIM #252011 MITOCHONDRIAL COMPLEX II DEFICIENCY;;SUCCINATE CoQ REDUCTASE DEFICIENCY
id in db is: 290045
inserted disease: 608354 OMIM CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; CMAVM
id in db is: 290046
inserted disease: 604173 OMIM #604173 POIKILODERMA WITH NEUTROPENIA; PN;;POIKILODERMA WITH NEUTROPENIA, CLERICUZIO-TYPE
id in db is: 290047
inserted disease: 611944 OMIM LYMPHEDEMA, HEREDITARY, IB
id in db is: 290048
inserted disease: 206750 OMIM ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTORRETARDATION
id in db is: 290049
inserted disease: 310800 OMIM NYSTAGMUS, MYOCLONIC
id in db is: 290050
inserted disease: 258360 OMIM ONYCHOTRICHODYSPLASIA AND NEUTROPENIA
id in db is: 290051
inserted disease: 52503 ORPHA X-linked creatine transporter deficiency
id in db is: 290052
inserted disease: 194200 OMIM WOLFF-PARKINSON-WHITE SYNDROME
id in db is: 290053
inserted disease: 615728 OMIM #615728 PACHYONYCHIA CONGENITA 4; PC4
id in db is: 290054
inserted disease: 615041 OMIM #615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10; MDDGA10
id in db is: 290055
inserted disease: 272430 OMIM #272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1;;CRISPONI SYNDROME;;SOHAR-CRISPONI SYNDROME;;MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY,HYPERTHERMIA, AND SUDDEN DEATH
id in db is: 290056
inserted disease: 110000 OMIM BLEPHAROCHALASIS, SUPERIOR
id in db is: 290057
inserted disease: 279000 OMIM YOUNG SYNDROME
id in db is: 290058
inserted disease: 614727 OMIM #614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K;;CDG IIk; CDGIIk
id in db is: 290059
inserted disease: 1118 ORPHA Fibular aplasia-ectrodactyly syndrome
id in db is: 290060
inserted disease: 722 ORPHA Hypoplasminogenemia
id in db is: 290061
inserted disease: 202355 OMIM ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT
id in db is: 290062
inserted disease: 1780 ORPHA Thakker-Donnai syndrome
id in db is: 290063
inserted disease: 48918 ORPHA Focal myositis
id in db is: 290064
inserted disease: 1295 ORPHA Brachytelephalangy-dysmorphism-Kallmann syndrome
id in db is: 290065
inserted disease: 608996 OMIM #608996 PREMATURE OVARIAN FAILURE 3; POF3
id in db is: 290066
inserted disease: 818 ORPHA Smith-Lemli-Opitz syndrome
id in db is: 290067
inserted disease: 615612 OMIM %615612 DEVELOPMENTAL DYSPLASIA OF THE HIP 2; DDH2
id in db is: 290068
inserted disease: 138070 OMIM GLUCOGLYCINURIA
id in db is: 290069
inserted disease: 612936 OMIM #612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY
id in db is: 290070
inserted disease: 184260 OMIM SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA
id in db is: 290071
inserted disease: 226298 ORPHA Central congenital hypothyroidism
id in db is: 290072
inserted disease: 2676 ORPHA Neuroectodermal-endocrine syndrome
id in db is: 290073
inserted disease: 141800 OMIM +141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1;;3-PRIME @ALPHA-GLOBIN GENE;;MINOR ALPHA-GLOBIN LOCUSMETHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED
id in db is: 290074
inserted disease: 2956 ORPHA Prata-Liberal-Goncalves syndrome
id in db is: 290075
inserted disease: 1520 ORPHA Craniofrontonasal dysplasia
id in db is: 290076
inserted disease: 516005 OMIM COMPLEX I, SUBUNIT ND5
id in db is: 290077
inserted disease: 300860 OMIM #300860 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 30; MRXS30
id in db is: 290078
inserted disease: 600175 OMIM #600175 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE;;SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES
id in db is: 290079
inserted disease: 616402 OMIM MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14
id in db is: 290080
inserted disease: 248340 OMIM 248340 3MC SYNDROME 3; 3MC3;;FACIAL CLEFTING SYNDROME, GYPSY TYPE;;MALPUECH FACIAL CLEFTING SYNDROME, FORMERLY
id in db is: 290081
inserted disease: 425000 OMIM GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, ALPHA SUBUNIT,Y-CHROMOSOMAL
id in db is: 290082
inserted disease: 613720 OMIM #613720 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7
id in db is: 290083
inserted disease: 600792 OMIM DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 5
id in db is: 290084
inserted disease: 109350 OMIM GASTROESOPHAGEAL REFLUX
id in db is: 290085
inserted disease: 161480 OMIM NASAL BONES, ABSENCE OF
id in db is: 290086
inserted disease: 709 ORPHA Peters plus syndrome
id in db is: 290087
inserted disease: 129200 OMIM %129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITALCONTRACTURES, AND NAIL ABNORMALITIES;;ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,AND SIMIAN CREASE;;BASAN SYNDROME
id in db is: 290088
inserted disease: 605809 OMIM MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A
id in db is: 290089
inserted disease: 255900 OMIM 255900 MYXEDEMA
id in db is: 290090
inserted disease: 3027 ORPHA Caudal regression sequence
id in db is: 290091
inserted disease: 603896 OMIM #603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM;;CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION; CACH;;VANISHING WHITE MATTER LEUKODYSTROPHY;;CREE LEUKOENCEPHALOPATHY; CLEVANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE, INCLUDED;;OVARIOLEUKODYSTROPHY, INCLUDED
id in db is: 290092
inserted disease: 161400 OMIM NARCOLEPSY 1; NRCLP1
id in db is: 290093
inserted disease: 1671 ORPHA Diastematomyelia
id in db is: 290094
inserted disease: 300905 OMIM #300905 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6;;CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
id in db is: 290095
inserted disease: 2048 ORPHA Foix-Chavany-Marie syndrome
id in db is: 290096
inserted disease: 1214 ORPHA Progressive hemifacial atrophy
id in db is: 290097
inserted disease: 184840 OMIM #184840 STICKLER SYNDROME, TYPE III; STL3;;STICKLER SYNDROME, NONOCULAR TYPE
id in db is: 290098
inserted disease: 602522 OMIM #602522 BARTTER SYNDROME, TYPE 4A;;BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS; BSNDSENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, INCLUDED
id in db is: 290099
inserted disease: 616592 OMIM KOSAKI OVERGROWTH SYNDROME; KOGS
id in db is: 290100
inserted disease: 300511 OMIM #300511 PREMATURE OVARIAN FAILURE 2A; POF2A
id in db is: 290101
inserted disease: 85328 ORPHA X-linked intellectual disability, Turner type
id in db is: 290102
inserted disease: 615517 OMIM #615517 HEMOCHROMATOSIS, TYPE 5; HFE5;;IRON OVERLOAD, AUTOSOMAL DOMINANT
id in db is: 290103
inserted disease: 616094 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12
id in db is: 290104
inserted disease: 142700 OMIM ACETABULAR DYSPLASIAHIP, DISLOCATION OF, CONGENITAL, INCLUDED
id in db is: 290105
inserted disease: 602418 OMIM WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME
id in db is: 290106
inserted disease: 613329 OMIM PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
id in db is: 290107
inserted disease: 1528 ORPHA Craniotelencephalic dysplasia
id in db is: 290108
inserted disease: 79279 ORPHA Alpha-N-acetylgalactosaminidase deficiency type 1
id in db is: 290109
inserted disease: 607842 OMIM #607842 AURAL ATRESIA, CONGENITAL; CAA;;AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA
id in db is: 290110
inserted disease: 600361 OMIM %600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V;;HMSN V;;HMSN5;;PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMALDOMINANT;;CMT WITH PYRAMIDAL FEATURES
id in db is: 290111
inserted disease: 610381 OMIM #610381 CONE-ROD DYSTROPHY 11; CORD11
id in db is: 290112
inserted disease: 173000 OMIM PILONIDAL SINUS
id in db is: 290113
inserted disease: 132100 OMIM PHOTOPAROXYSMAL RESPONSE 1; PPR1
id in db is: 290114
inserted disease: 183020 OMIM SPINAL MUSCULAR ATROPHY, SEGMENTAL
id in db is: 290115
inserted disease: 193520 OMIM WATSON SYNDROME
id in db is: 290116
inserted disease: 272980 OMIM TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR
id in db is: 290117
inserted disease: 600257 OMIM BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME
id in db is: 290118
inserted disease: 610048 OMIM #610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD;;CONGENITAL STROMAL CORNEAL DYSTROPHY
id in db is: 290119
inserted disease: 117600 OMIM 117600 CEREBRAL SARCOMA
id in db is: 290120
inserted disease: 605021 OMIM MYOCLONIC EPILEPSY, INFANTILE
id in db is: 290121
inserted disease: 608641 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28
id in db is: 290122
inserted disease: 604145 OMIM #604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G
id in db is: 290123
inserted disease: 257790 OMIM 257790 OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS
id in db is: 290124
inserted disease: 614165 OMIM #614165 PARAGANGLIOMAS 5; PGL5
id in db is: 290125
inserted disease: 202110 OMIM ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
id in db is: 290126
inserted disease: 187000 OMIM TEETH, ODD SHAPES OFLOBODONTIA, INCLUDED
id in db is: 290127
inserted disease: 2785 ORPHA Osteopetrosis with renal tubular acidosis
id in db is: 290128
inserted disease: 268850 OMIM %268850 RICHIERI-COSTA/GUION-ALMEIDA SYNDROME;;SHORT STATURE, MENTAL RETARDATION, EYE ANOMALIES, AND CLEFT LIP/PALATE;;SAO PAULO MCA/MR SYNDROME
id in db is: 290129
inserted disease: 616488 OMIM #616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8;;HSAN VIII
id in db is: 290130
inserted disease: 598 ORPHA Multiminicore myopathy
id in db is: 290131
inserted disease: 601631 OMIM #601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1;;IRIDOGONIODYSGENESIS ANOMALY, AUTOSOMAL DOMINANT; IGDAIRIS HYPOPLASIA WITH GLAUCOMA, INCLUDED;;GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL, INCLUDED
id in db is: 290132
inserted disease: 1842 ORPHA Bone dysplasia, lethal Holmgren type
id in db is: 290133
inserted disease: 171420 OMIM PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME
id in db is: 290134
inserted disease: 220493 ORPHA Joubert syndrome with ocular defect
id in db is: 290135
inserted disease: 125700 OMIM DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
id in db is: 290136
inserted disease: 134600 OMIM FANCONI RENOTUBULAR SYNDROME
id in db is: 290137
inserted disease: 1917 ORPHA Fetal methylmercury syndrome
id in db is: 290138
inserted disease: 251945 OMIM MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
id in db is: 290139
inserted disease: 1909 ORPHA Indomethacin embryofetopathy
id in db is: 290140
inserted disease: 212130 OMIM CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH
id in db is: 290141
inserted disease: 266350 OMIM RED SKIN PIGMENT ANOMALY OF NEW GUINEA
id in db is: 290142
inserted disease: 271640 OMIM SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1
id in db is: 290143
inserted disease: 228520 OMIM #228520 FIBROCHONDROGENESIS 1; FBCG1
id in db is: 290144
inserted disease: 600416 OMIM 600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL
id in db is: 290145
inserted disease: 769 ORPHA Rabson-Mendenhall syndrome
id in db is: 290146
inserted disease: 66518 ORPHA Short fifth metacarpals-insulin resistance syndrome
id in db is: 290147
inserted disease: 608033 OMIM #608033 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3;;ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO; ANE
id in db is: 290148
inserted disease: 113480 OMIM 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME
id in db is: 290149
inserted disease: 156700 OMIM MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES
id in db is: 290150
inserted disease: 613097 OMIM TOOTH AGENESIS, SELECTIVE, 6; STHAG6
id in db is: 290151
inserted disease: 615838 OMIM MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8
id in db is: 290152
inserted disease: 66661 ORPHA Mast cell sarcoma
id in db is: 290153
inserted disease: 278100 OMIM WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS
id in db is: 290154
inserted disease: 301900 OMIM BORJESON-FORSSMAN-LEHMANN SYNDROME
id in db is: 290155
inserted disease: 611880 OMIM #611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A;;CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE;;CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE
id in db is: 290156
inserted disease: 1110 ORPHA Aortic arch anomaly-peculiar facies-intellectual disability syndrome
id in db is: 290157
inserted disease: 183500 OMIM SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA
id in db is: 290158
inserted disease: 252940 OMIM #252940 MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D;;MPS IIID;;SANFILIPPO SYNDROME D;;N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY
id in db is: 290159
inserted disease: 608629 OMIM JOUBERT SYNDROME 3
id in db is: 290160
inserted disease: 280794 ORPHA Pseudoxanthomatous diffuse cutaneous mastocytosis
id in db is: 290161
inserted disease: 156177 ORPHA Retinal ciliopathy due to mutation in Usher gene
id in db is: 290162
inserted disease: 607417 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2
id in db is: 290163
inserted disease: 300750 OMIM %300750 SPASTIC PARAPLEGIA 34, X-LINKED; SPG34
id in db is: 290164
inserted disease: 613112 OMIM #613112 MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
id in db is: 290165
inserted disease: 77261 ORPHA Gaucher disease type 3
id in db is: 290166
inserted disease: 235500 OMIM HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN
id in db is: 290167
inserted disease: 611431 OMIM #611431 LEGIUS SYNDROME;;NEUROFIBROMATOSIS TYPE 1-LIKE SYNDROME; NFLS
id in db is: 290168
inserted disease: 614486 OMIM #614486 THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12
id in db is: 290169
inserted disease: 237300 OMIM #237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO;;CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY;;CPS I DEFICIENCY
id in db is: 290170
inserted disease: 615860 OMIM CONE-ROD DYSTROPHY 19; CORD19
id in db is: 290171
inserted disease: 601004 OMIM PORTAL VEIN, CAVERNOUS TRANSFORMATION OF
id in db is: 290172
inserted disease: 163976 ORPHA X-linked intellectual disability, Van Esch type
id in db is: 290173
inserted disease: 601952 OMIM #601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA;;KLICK SYNDROME
id in db is: 290174
inserted disease: 615362 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 13; CLN13
id in db is: 290175
inserted disease: 93271 ORPHA Short rib-polydactyly syndrome, Verma-Naumoff type
id in db is: 290176
inserted disease: 611489 OMIM CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
id in db is: 290177
inserted disease: 51 DECIPHER 2q33.1 deletion syndrome
id in db is: 290178
inserted disease: 2533 ORPHA Microcephaly-deafness-intellectual disability syndrome
id in db is: 290179
inserted disease: 790 ORPHA Retinoblastoma
id in db is: 290180
inserted disease: 611907 OMIM EPISODIC ATAXIA, TYPE 7; EA7
id in db is: 290181
inserted disease: 3375 ORPHA Trisomy X
id in db is: 290182
inserted disease: 613011 OMIM #613011 LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1
id in db is: 290183
inserted disease: 313400 OMIM #313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT;;SED TARDA, X-LINKED;;SPONDYLOEPIPHYSEAL DYSPLASIA, LATE
id in db is: 290184
inserted disease: 612016 OMIM #612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4;;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9
id in db is: 290185
inserted disease: 300004 OMIM #300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA;;ACC WITH ABNORMAL GENITALIA;;PROUD SYNDROME
id in db is: 290186
inserted disease: 231230 ORPHA Beta-thalassemia associated with another hemoglobin anomaly
id in db is: 290187
inserted disease: 603529 OMIM 603529 DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLASTHETEROCHROMATIN
id in db is: 290188
inserted disease: 53693 ORPHA GRACILE syndrome
id in db is: 290189
inserted disease: 190685 OMIM #190685 DOWN SYNDROMETRISOMY 21, INCLUDED;;DOWN SYNDROME CHROMOSOME REGION, INCLUDED; DCR, INCLUDED;;DOWN SYNDROME CRITICAL REGION, INCLUDED; DSCR, INCLUDED;;TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED;;LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED
id in db is: 290190
inserted disease: 616005 OMIM IMMUNODEFICIENCY 36; IMD36
id in db is: 290191
inserted disease: 2295 ORPHA Ehlers-Danlos syndrome type 11
id in db is: 290192
inserted disease: 79102 ORPHA Thyrotoxic periodic paralysis
id in db is: 290193
inserted disease: 65682 ORPHA Benign recurrent intrahepatic cholestasis
id in db is: 290194
inserted disease: 35125 ORPHA Epidermal nevus syndrome
id in db is: 290195
inserted disease: 314380 OMIM UNIQUE GREEN PHENOMENON
id in db is: 290196
inserted disease: 187550 OMIM THALASSEMIA, BETA+, SILENT ALLELE
id in db is: 290197
inserted disease: 180200 OMIM RETINOBLASTOMA; RB1
id in db is: 290198
inserted disease: 254300 OMIM #254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL;;LGM;;CONGENITAL MYASTHENIC SYNDROME TYPE Ib; CMS1B;;CMS Ib;;MYASTHENIC MYOPATHY, FORMERLY
id in db is: 290199
inserted disease: 264800 OMIM #264800 PSEUDOXANTHOMA ELASTICUM; PXE;;GRONBLAD-STRANDBERG SYNDROMEPSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED;;PXE, MODIFIER OF SEVERITY OF, INCLUDED
id in db is: 290200
inserted disease: 609706 OMIM #609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53
id in db is: 290201
inserted disease: 178800 OMIM PUPIL, EGG-SHAPED
id in db is: 290202
inserted disease: 180870 OMIM RUVALCABA SYNDROME
id in db is: 290203
inserted disease: 90362 ORPHA Primary intestinal lymphangiectasia
id in db is: 290204
inserted disease: 192950 OMIM VERTICAL TALUS, CONGENITAL
id in db is: 290205
inserted disease: 616369 OMIM CILIARY DYSKINESIA, PRIMARY, 31; CILD31
id in db is: 290206
inserted disease: 293967 ORPHA Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
id in db is: 290207
inserted disease: 614688 OMIM PONTINE TEGMENTAL CAP DYSPLASIA; PTCD
id in db is: 290208
inserted disease: 615683 OMIM SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE; SPG64
id in db is: 290209
inserted disease: 613882 OMIM #613882 HYPOMAGNESEMIA 6, RENAL; HOMG6
id in db is: 290210
inserted disease: 615942 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44
id in db is: 290211
inserted disease: 36426 ORPHA Stevens-Johnson syndrome
id in db is: 290212
inserted disease: 380 ORPHA Greig cephalopolysyndactyly syndrome
id in db is: 290213
inserted disease: 242700 OMIM IMMUNE DEFECT DUE TO ABSENCE OF THYMUS
id in db is: 290214
inserted disease: 616430 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25
id in db is: 290215
inserted disease: 62 DECIPHER 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)
id in db is: 290216
inserted disease: 1310 ORPHA Caffey disease
id in db is: 290217
inserted disease: 1772 ORPHA 45,X/46,XY mixed gonadal dysgenesis
id in db is: 290218
inserted disease: 104510 OMIM AMELOGENESIS IMPERFECTA, TYPE IV
id in db is: 290219
inserted disease: 2704 ORPHA Ochoa syndrome
id in db is: 290220
inserted disease: 2123 ORPHA Diffuse neonatal hemangiomatosis
id in db is: 290221
inserted disease: 612438 OMIM #612438 LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6;;LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIAAND CEREBELLUM; HABC
id in db is: 290222
inserted disease: 743 ORPHA Hereditary thrombophilia due to congenital protein S deficiency
id in db is: 290223
inserted disease: 156000 OMIM MENIERE DISEASE
id in db is: 290224
inserted disease: 612337 OMIM #612337 MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22CHROMOSOME 1q43-q44 DELETION SYNDROME, INCLUDED;;CHROMOSOME 1qter DELETION SYNDROME, INCLUDED
id in db is: 290225
inserted disease: 616326 OMIM MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11
id in db is: 290226
inserted disease: 113477 OMIM BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME
id in db is: 290227
inserted disease: 280651 ORPHA Acrodysostosis with multiple hormone resistance
id in db is: 290228
inserted disease: 208000 OMIM #208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1;;GACI;;IDIOPATHIC INFANTILE ARTERIAL CALCIFICATION; IIAC;;ARTERIAL CALCIFICATION, IDIOPATHIC INFANTILE;;ARTERIOPATHY, OCCLUSIVE INFANTILECORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED
id in db is: 290229
inserted disease: 600737 OMIM INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
id in db is: 290230
inserted disease: 276630 ORPHA Symptomatic form of Coffin-Lowry syndrome in female carriers
id in db is: 290231
inserted disease: 136150 OMIM FLOOD FACTOR DEFICIENCY
id in db is: 290232
inserted disease: 156190 OMIM MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA
id in db is: 290233
inserted disease: 2466 ORPHA MASA syndrome
id in db is: 290234
inserted disease: 300894 OMIM #300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5;;BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN;;STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD;SENDA
id in db is: 290235
inserted disease: 3157 ORPHA Septo-optic dysplasia spectrum
id in db is: 290236
inserted disease: 604625 OMIM #604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3;;HYPODONTIA/OLIGODONTIA 3
id in db is: 290237
inserted disease: 248010 OMIM MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGEDAPPEARANCE
id in db is: 290238
inserted disease: 99825 ORPHA Nipah virus disease
id in db is: 290239
inserted disease: 604393 OMIM #604393 LEBER CONGENITAL AMAUROSIS 4; LCA4RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED, INCLUDED;;CONE-ROD DYSTROPHY, AIPL1-RELATED, INCLUDED
id in db is: 290240
inserted disease: 276822 OMIM ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS
id in db is: 290241
inserted disease: 600462 OMIM #600462 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1;;MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
id in db is: 290242
inserted disease: 158250 OMIM NONDISJUNCTION
id in db is: 290243
inserted disease: 231401 ORPHA Alpha-thalassemia-myelodysplastic syndrome
id in db is: 290244
inserted disease: 2199 ORPHA Epidermolytic palmoplantar keratoderma
id in db is: 290245
inserted disease: 220600 OMIM #220600 SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS; SHFM1D;;DEAFNESS, CONGENITAL, AND SPLIT HANDS AND FEET
id in db is: 290246
inserted disease: 601976 OMIM 601976 OTOFACIOOSSEOUS-GONADAL SYNDROME
id in db is: 290247
inserted disease: 616491 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V
id in db is: 290248
inserted disease: 100084 ORPHA Middle ear endocrine tumor
id in db is: 290249
inserted disease: 613561 OMIM #613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2
id in db is: 290250
inserted disease: 247430 OMIM LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF
id in db is: 290251
inserted disease: 85162 ORPHA Facial onset sensory and motor neuronopathy
id in db is: 290252
inserted disease: 100924 ORPHA Porphyria due to ALA dehydratase deficiency
id in db is: 290253
inserted disease: 56044 ORPHA Carcinoma of gallbladder and extrahepatic biliary tract
id in db is: 290254
inserted disease: 600627 OMIM HYPERTRYPTOPHANEMIA, FAMILIAL
id in db is: 290255
inserted disease: 823 ORPHA Isolated spina bifida
id in db is: 290256
inserted disease: 615453 OMIM MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6
id in db is: 290257
inserted disease: 172880 OMIM PIERRE ROBIN SYNDROME AND OLIGODACTYLY
id in db is: 290258
inserted disease: 164000 OMIM NOSE, ANOMALOUS SHAPE OF
id in db is: 290259
inserted disease: 63259 ORPHA Iniencephaly
id in db is: 290260
inserted disease: 601665 OMIM OBESITY
id in db is: 290261
inserted disease: 300884 OMIM #300884 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is; CDG1S;;CDG Is; CDGIs
id in db is: 290262
inserted disease: 201910 OMIM ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
id in db is: 290263
inserted disease: 607014 OMIM #607014 HURLER SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H
id in db is: 290264
inserted disease: 190340 OMIM TRICHODISCOMAS, FAMILIAL MULTIPLE
id in db is: 290265
inserted disease: 601224 OMIM POTOCKI-SHAFFER SYNDROME
id in db is: 290266
inserted disease: 186200 OMIM #186200 SYNDACTYLY, TYPE IV;;HAAS TYPE SYNDACTYLY;;POLYSYNDACTYLY, HAAS TYPE;;SDTY4;;SD4
id in db is: 290267
inserted disease: 607829 OMIM MITRAL VALVE PROLAPSE, MYXOMATOUS 2
id in db is: 290268
inserted disease: 614819 OMIM #614819 WEILL-MARCHESANI SYNDROME 3; WMS3
id in db is: 290269
inserted disease: 104400 OMIM AMELIA AND TERMINAL TRANSVERSE HEMIMELIA
id in db is: 290270
inserted disease: 167755 OMIM 167755 PANCREAS, DORSAL, AGENESIS OF
id in db is: 290271
inserted disease: 601612 OMIM %601612 LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME;LACHT;;MARDINI-NYHAN ASSOCIATION
id in db is: 290272
inserted disease: 1396 ORPHA Cerebro-reno-digital syndrome
id in db is: 290273
inserted disease: 609441 OMIM CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES
id in db is: 290274
inserted disease: 2077 ORPHA German syndrome
id in db is: 290275
inserted disease: 611067 OMIM SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
id in db is: 290276
inserted disease: 173450 OMIM PLATELET FACTOR 3 DEFICIENCY
id in db is: 290277
inserted disease: 612576 OMIM #612576 CHROMOSOME 17P13.3, TELOMERIC, DUPLICATION SYNDROME;;SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3
id in db is: 290278
inserted disease: 126600 OMIM DOYNE HONEYCOMB RETINAL DYSTROPHY
id in db is: 290279
inserted disease: 136630 OMIM MENTAL RETARDATION, FRA12A TYPE
id in db is: 290280
inserted disease: 615490 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R
id in db is: 290281
inserted disease: 2985 ORPHA Pseudoprogeria syndrome
id in db is: 290282
inserted disease: 93304 ORPHA Autosomal dominant brachyolmia
id in db is: 290283
inserted disease: 209902 ORPHA Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
id in db is: 290284
inserted disease: 115665 OMIM %115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV
id in db is: 290285
inserted disease: 176270 OMIM PRADER-WILLI SYNDROME; PWS
id in db is: 290286
inserted disease: 613808 OMIM #613808 CILIARY DYSKINESIA, PRIMARY, 15; CILD15;;CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS
id in db is: 290287
inserted disease: 33408 ORPHA Bullous lichen planus
id in db is: 290288
inserted disease: 239800 OMIM %239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME;;HMC SYNDROME
id in db is: 290289
inserted disease: 139450 OMIM HAIR, CURLY
id in db is: 290290
inserted disease: 1048 ORPHA Isolated anencephaly/exencephaly
id in db is: 290291
inserted disease: 248000 OMIM MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
id in db is: 290292
inserted disease: 614074 OMIM #614074 HERMANSKY-PUDLAK SYNDROME 5; HPS5
id in db is: 290293
inserted disease: 2323 ORPHA Sanjad-Sakati syndrome
id in db is: 290294
inserted disease: 210000 OMIM BEHR SYNDROME
id in db is: 290295
inserted disease: 277170 OMIM #277170 OROFACIODIGITAL SYNDROME VI; OFD6;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE VI;;OFDS VI;;VARADI-PAPP SYNDROME;;VARADI SYNDROME;;POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION
id in db is: 290296
inserted disease: 611134 OMIM #611134 MECKEL SYNDROME, TYPE 4; MKS4;;MECKEL-GRUBER SYNDROME, TYPE 4MECKEL-LIKE CEREBRORENODIGITAL SYNDROME, INCLUDED
id in db is: 290297
inserted disease: 435938 ORPHA X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
id in db is: 290298
inserted disease: 274230 OMIM THYMOMA, FAMILIAL
id in db is: 290299
inserted disease: 312830 OMIM SCARF SYNDROME
id in db is: 290300
inserted disease: 131200 OMIM %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1;;ENDO1
id in db is: 290301
inserted disease: 352530 ORPHA Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
id in db is: 290302
inserted disease: 251600 OMIM MICROPHTHALMIA, ISOLATED 1
id in db is: 290303
inserted disease: 652 ORPHA Multiple endocrine neoplasia type 1
id in db is: 290304
inserted disease: 600333 OMIM 600333 MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA
id in db is: 290305
inserted disease: 615573 OMIM NEPHROTIC SYNDROME, TYPE 9; NPHS9
id in db is: 290306
inserted disease: 270960 OMIM #270960 SPERMATOGENIC FAILURE 4; SPGF4;;AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS;;AZOOSPERMIA WITH MATURATION ARREST;;SPERMATOGENESIS ARRESTPREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 4; RPRGL4
id in db is: 290307
inserted disease: 150700 OMIM LEIOMYOMA OF VULVA AND ESOPHAGUS
id in db is: 290308
inserted disease: 274240 OMIM THYROCEREBRORETINAL SYNDROME
id in db is: 290309
inserted disease: 1328 ORPHA Camurati-Engelmann disease
id in db is: 290310
inserted disease: 615396 OMIM #615396 LEFT VENTRICULAR NONCOMPACTION 10; LVNC10CARDIOMYOPATHY, DILATED, 1MM, INCLUDED; CMD1MM, INCLUDED
id in db is: 290311
inserted disease: 2746 ORPHA Opsismodysplasia
id in db is: 290312
inserted disease: 615075 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19
id in db is: 290313
inserted disease: 137200 OMIM #137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN;;GAMSTORP-WOHLFART SYNDROME;;MYOKYMIA, MYOTONIA, AND MUSCLE WASTING
id in db is: 290314
inserted disease: 2152 ORPHA Mowat-Wilson syndrome
id in db is: 290315
inserted disease: 261500 OMIM EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD
id in db is: 290316
inserted disease: 2432 ORPHA Macrosomia-microphthalmia-cleft palate syndrome
id in db is: 290317
inserted disease: 120790 OMIM COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF
id in db is: 290318
inserted disease: 271520 OMIM SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES
id in db is: 290319
inserted disease: 614562 OMIM #614562 MENTAL RETARDATION, AUTOSOMAL DOMINANT 12; MRD12
id in db is: 290320
inserted disease: 234700 OMIM HEART BLOCK, CONGENITAL
id in db is: 290321
inserted disease: 133800 OMIM EYEBROW, WHORL IN
id in db is: 290322
inserted disease: 263750 OMIM #263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS;;MILLER SYNDROME;;GENEE-WIEDEMANN SYNDROME
id in db is: 290323
inserted disease: 108725 OMIM ATHEROSCLEROSIS SUSCEPTIBILITY
id in db is: 290324
inserted disease: 2637 ORPHA Microcephalic osteodysplastic primordial dwarfism type II
id in db is: 290325
inserted disease: 613681 OMIM #613681 CHROMOSOME 2q31.1 DUPLICATION SYNDROME;;MESOMELIC DYSPLASIA, 2q31.1 DUPLICATION-RELATED
id in db is: 290326
inserted disease: 605055 OMIM ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID ANDPRION PATHOLOGY
id in db is: 290327
inserted disease: 172870 OMIM PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
id in db is: 290328
inserted disease: 1580 ORPHA Distal monosomy 10p
id in db is: 290329
inserted disease: 609006 OMIM #609006 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, INCLUDED
id in db is: 290330
inserted disease: 608320 OMIM #608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1;;CORONARY ARTERY DISEASE WITH MYOCARDIAL INFARCTION
id in db is: 290331
inserted disease: 211930 OMIM 211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA
id in db is: 290332
inserted disease: 273770 OMIM THREONINEMIA
id in db is: 290333
inserted disease: 616287 OMIM LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8
id in db is: 290334
inserted disease: 84090 ORPHA Fibronectin glomerulopathy
id in db is: 290335
inserted disease: 614251 OMIM #614251 PARKINSON DISEASE 18; PARK18
id in db is: 290336
inserted disease: 143470 OMIM HYPERALPHALIPOPROTEINEMIA
id in db is: 290337
inserted disease: 248110 OMIM 248110 MACROSOMIA WITH MICROPHTHALMIA, LETHAL
id in db is: 290338
inserted disease: 606324 OMIM PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
id in db is: 290339
inserted disease: 46 ORPHA Adenylosuccinate lyase deficiency
id in db is: 290340
inserted disease: 212500 OMIM CATARACT, CONGENITAL OR JUVENILECATARACT, JUVENILE, HUTTERITE TYPE, INCLUDED
id in db is: 290341
inserted disease: 1738 ORPHA Trisomy 4p
id in db is: 290342
inserted disease: 221950 OMIM DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA
id in db is: 290343
inserted disease: 490000 OMIM ZINC FINGER PROTEIN, Y-LINKED
id in db is: 290344
inserted disease: 761 ORPHA Immunoglobulin A vasculitis
id in db is: 290345
inserted disease: 193400 OMIM #193400 VON WILLEBRAND DISEASE, TYPE 1; VWD1;;VON WILLEBRAND DISEASE, TYPE I;;VWD, TYPE 1
id in db is: 290346
inserted disease: 271270 OMIM 271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM
id in db is: 290347
inserted disease: 1144 ORPHA Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
id in db is: 290348
inserted disease: 278900 OMIM XYLOSIDASE DEFICIENCY
id in db is: 290349
inserted disease: 310095 OMIM MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL
id in db is: 290350
inserted disease: 46348 ORPHA Paroxysmal extreme pain disorder
id in db is: 290351
inserted disease: 601344 OMIM SPINAL DYSPLASIA, ANHALT TYPE
id in db is: 290352
inserted disease: 99872 ORPHA Hashimoto-Pritzker syndrome
id in db is: 290353
inserted disease: 189427 ORPHA Cushing syndrome due to macronodular adrenal hyperplasia
id in db is: 290354
inserted disease: 105150 OMIM AMYLOIDOSIS VI
id in db is: 290355
inserted disease: 481 ORPHA Kennedy disease
id in db is: 290356
inserted disease: 616029 OMIM ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME; ECTDS
id in db is: 290357
inserted disease: 301201 OMIM AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2
id in db is: 290358
inserted disease: 604432 OMIM #604432 SPINOCEREBELLAR ATAXIA 11; SCA11
id in db is: 290359
inserted disease: 300270 OMIM 300270 ADRENOMYODYSTROPHY
id in db is: 290360
inserted disease: 611890 OMIM #611890 LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD
id in db is: 290361
inserted disease: 375 ORPHA Anti-glomerular basement membrane disease
id in db is: 290362
inserted disease: 193050 OMIM VIBRATORY ANGIOEDEMA
id in db is: 290363
inserted disease: 250800 OMIM METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
id in db is: 290364
inserted disease: 156220 OMIM MERALGIA PARAESTHETICA, FAMILIAL
id in db is: 290365
inserted disease: 612313 OMIM GLASS SYNDROME; GLASS
id in db is: 290366
inserted disease: 153400 OMIM #153400 LYMPHEDEMA-DISTICHIASIS SYNDROME;;LYMPHEDEMA WITH DISTICHIASISLYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS,INCLUDED
id in db is: 290367
inserted disease: 602440 OMIM AMYOTROPHY, MONOMELIC
id in db is: 290368
inserted disease: 304 ORPHA Epidermolysis bullosa simplex
id in db is: 290369
inserted disease: 616201 OMIM CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID
id in db is: 290370
inserted disease: 158000 ORPHA Juvenile xanthogranuloma
id in db is: 290371
inserted disease: 98849 ORPHA Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
id in db is: 290372
inserted disease: 165680 OMIM OSSICULAR MALFORMATIONS, FAMILIAL
id in db is: 290373
inserted disease: 605376 OMIM #605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2;;HTX
id in db is: 290374
inserted disease: 610353 OMIM EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4
id in db is: 290375
inserted disease: 200995 OMIM 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA;;ELEJALDE SYNDROME
id in db is: 290376
inserted disease: 966 ORPHA Hypertrichosis-acromegaloid facial appearance syndrome
id in db is: 290377
inserted disease: 420794 ORPHA Cono-spondylar dysplasia
id in db is: 290378
inserted disease: 204730 OMIM AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS
id in db is: 290379
inserted disease: 2095 ORPHA Gorlin-Chaudhry-Moss syndrome
id in db is: 290380
inserted disease: 88644 ORPHA Autosomal recessive ataxia, Beauce type
id in db is: 290381
inserted disease: 142000 OMIM HEMOGLOBIN--DELTA LOCUS
id in db is: 290382
inserted disease: 2808 ORPHA Laryngeal abductor paralysis
id in db is: 290383
inserted disease: 611302 OMIM #611302 SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2
id in db is: 290384
inserted disease: 1253 ORPHA Ascher syndrome
id in db is: 290385
inserted disease: 614385 OMIM #614385 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7
id in db is: 290386
inserted disease: 611364 OMIM MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4
id in db is: 290387
inserted disease: 256700 OMIM NEUROBLASTOMA
id in db is: 290388
inserted disease: 213950 OMIM CEREBROCORTICAL DEGENERATION OF INFANCY
id in db is: 290389
inserted disease: 107100 OMIM ANORECTAL ANOMALIES
id in db is: 290390
inserted disease: 38 DECIPHER Pelizaeus-Merzbacher disease
id in db is: 290391
inserted disease: 311010 OMIM V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1
id in db is: 290392
inserted disease: 616170 OMIM MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT; CCMD
id in db is: 290393
inserted disease: 606003 OMIM TRANSALDOLASE DEFICIENCY
id in db is: 290394
inserted disease: 102000 OMIM ACROLEUKOPATHY, SYMMETRIC
id in db is: 290395
inserted disease: 109820 OMIM 109820 BLADDER DIVERTICULUM
id in db is: 290396
inserted disease: 165670 OMIM OSSIFIED EAR CARTILAGES
id in db is: 290397
inserted disease: 615597 OMIM #615597 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X;;CDG Ix; CDGIx
id in db is: 290398
inserted disease: 1876 ORPHA Oculogastrointestinal muscular dystrophy
id in db is: 290399
inserted disease: 614131 OMIM #614131 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6;;GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6
id in db is: 290400
inserted disease: 600343 OMIM %600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF; PDDP
id in db is: 290401
inserted disease: 613494 OMIM #613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4;;ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT
id in db is: 290402
inserted disease: 144250 OMIM HYPERLIPIDEMIA, FAMILIAL COMBINED
id in db is: 290403
inserted disease: 3165 ORPHA Eosinophilic fasciitis
id in db is: 290404
inserted disease: 600223 OMIM %600223 SPINOCEREBELLAR ATAXIA 4; SCA4;;SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY
id in db is: 290405
inserted disease: 270950 OMIM SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION
id in db is: 290406
inserted disease: 120500 OMIM COMMISSURAL LIP PITS
id in db is: 290407
inserted disease: 300915 OMIM #300915 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13;;MAINE MICROPHTHALMOS;;COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, ANDPSYCHOMOTOR RETARDATION
id in db is: 290408
inserted disease: 79312 ORPHA Vitamin B12-unresponsive methylmalonic acidemia type mut-
id in db is: 290409
inserted disease: 613470 OMIM #613470 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASEDEFICIENCY
id in db is: 290410
inserted disease: 1808 ORPHA Hidrotic ectodermal dysplasia, Christianson-Fourie type
id in db is: 290411
inserted disease: 115 ORPHA Congenital contractural arachnodactyly
id in db is: 290412
inserted disease: 90349 ORPHA Autosomal recessive cutis laxa type 1
id in db is: 290413
inserted disease: 613319 OMIM MIYOSHI MUSCULAR DYSTROPHY 3; MMD3
id in db is: 290414
inserted disease: 2014 ORPHA Cleft palate
id in db is: 290415
inserted disease: 242 ORPHA 46,XY complete gonadal dysgenesis
id in db is: 290416
inserted disease: 90035 ORPHA Paroxysmal cold hemoglobinuria
id in db is: 290417
inserted disease: 166710 OMIM OSTEOPOROSIS
id in db is: 290418
inserted disease: 600630 OMIM #600630 UV-SENSITIVE SYNDROME 1; UVSS1
id in db is: 290419
inserted disease: 301310 OMIM ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
id in db is: 290420
inserted disease: 604484 OMIM #604484 HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE; HMSNP;;NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; HMSNO
id in db is: 290421
inserted disease: 259410 OMIM OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS
id in db is: 290422
inserted disease: 609734 OMIM #609734 PROOPIOMELANOCORTIN DEFICIENCY;;OBESITY, EARLY-ONSET, ADRENAL INSUFFICIENCY, AND RED HAIR
id in db is: 290423
inserted disease: 363618 ORPHA LMNA-related cardiocutaneous progeria syndrome
id in db is: 290424
inserted disease: 221400 OMIM DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL ANDPROGRESSIVE SENSORY NEUROPATHY
id in db is: 290425
inserted disease: 556 ORPHA Malakoplakia
id in db is: 290426
inserted disease: 158500 OMIM MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS
id in db is: 290427
inserted disease: 615248 OMIM CARDIOMYOPATHY, DILATED, 1KK; CMD1KK
id in db is: 290428
inserted disease: 231300 OMIM GLAUCOMA 3, PRIMARY CONGENITAL, A
id in db is: 290429
inserted disease: 615631 OMIM #615631 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B;;CDA, TYPE Ib
id in db is: 290430
inserted disease: 437 ORPHA Hypophosphatemic rickets
id in db is: 290431
inserted disease: 203340 OMIM MICROCEPHALY - ALBINISM - DIGITAL ANOMALIES
id in db is: 290432
inserted disease: 261120 ORPHA 14q11.2 microdeletion syndrome
id in db is: 290433
inserted disease: 610042 OMIM #610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME;;CDFE SYNDROMEPITT-HOPKINS-LIKE SYNDROME 1, INCLUDED; PTHSL1, INCLUDED
id in db is: 290434
inserted disease: 610967 OMIM #610967 OSTEOGENESIS IMPERFECTA, TYPE V; OI5;;OI, TYPE V
id in db is: 290435
inserted disease: 305400 OMIM #305400 AARSKOG-SCOTT SYNDROME; AAS;;FACIOGENITAL DYSPLASIA; FGDY;;FACIODIGITOGENITAL SYNDROME;;AARSKOG SYNDROME, X-LINKEDFACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER,INCLUDED;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED; MRXS16, INCLUDED
id in db is: 290436
inserted disease: 251066 ORPHA 8p11.2 deletion syndrome
id in db is: 290437
inserted disease: 245300 OMIM KURU, SUSCEPTIBILITY TO
id in db is: 290438
inserted disease: 615511 OMIM MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD
id in db is: 290439
inserted disease: 204500 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 2
id in db is: 290440
inserted disease: 614098 OMIM KEPPEN-LUBINSKY SYNDROME; KPLBS
id in db is: 290441
inserted disease: 238769 ORPHA 1q44 microdeletion syndrome
id in db is: 290442
inserted disease: 1562 ORPHA Dacryocystitis-osteopoikilosis syndrome
id in db is: 290443
inserted disease: 167950 OMIM PAPILLOMATOSIS, FLORID, OF NIPPLE
id in db is: 290444
inserted disease: 613702 OMIM #613702 KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3
id in db is: 290445
inserted disease: 79141 ORPHA Hereditary painful callosities
id in db is: 290446
inserted disease: 605726 OMIM #605726 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2;;NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE;;NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; HMNJ;;SPINAL MUSCULAR ATROPHY, JERASH TYPE
id in db is: 290447
inserted disease: 308220 OMIM IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACEGLYCOPROTEIN
id in db is: 290448
inserted disease: 601200 OMIM #601200 PLEUROPULMONARY BLASTOMA; PPB;;PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME; PPBFTDS
id in db is: 290449
inserted disease: 385 ORPHA Neurodegeneration with brain iron accumulation
id in db is: 290450
inserted disease: 607683 OMIM %607683 DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52;;DEAFNESS, AUTOSOMAL DOMINANT 42; DFNA42
id in db is: 290451
inserted disease: 1323 ORPHA Camptodactyly-joint contractures-facial skeletal defects syndrome
id in db is: 290452
inserted disease: 616139 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27
id in db is: 290453
inserted disease: 123320 OMIM CREATINE PHOSPHOKINASE, ELEVATED SERUM
id in db is: 290454
inserted disease: 234820 OMIM HEMANGIOPERICYTOMA, MALIGNANT
id in db is: 290455
inserted disease: 538 ORPHA Lymphangioleiomyomatosis
id in db is: 290456
inserted disease: 115310 OMIM PARAGANGLIOMAS 4
id in db is: 290457
inserted disease: 615866 OMIM #615866 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27
id in db is: 290458
inserted disease: 615425 OMIM #615425 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2; EBSB2
id in db is: 290459
inserted disease: 607628 OMIM EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING
id in db is: 290460
inserted disease: 1001 ORPHA 2q37 microdeletion syndrome
id in db is: 290461
inserted disease: 16 DECIPHER 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
id in db is: 290462
inserted disease: 156230 OMIM %156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE
id in db is: 290463
inserted disease: 193510 OMIM #193510 WAARDENBURG SYNDROME, TYPE 2A; WS2A;;WAARDENBURG SYNDROME, TYPE IIA;;WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM;;WS2
id in db is: 290464
inserted disease: 615368 OMIM #615368 LETHAL CONGENITAL CONTRACTURE SYNDROME 5; LCCS5;;MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE
id in db is: 290465
inserted disease: 270400 OMIM #270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS;;SLO SYNDROME;;RSH SYNDROME;;RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;;POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;;LETHAL ACRODYSGENITAL SYNDROME
id in db is: 290466
inserted disease: 307800 OMIM #307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR;;HYPOPHOSPHATEMIA, X-LINKED; XLH;;HYP;;VITAMIN D-RESISTANT RICKETS, X-LINKED;;HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; HPDR
id in db is: 290467
inserted disease: 240200 OMIM HYPOADRENOCORTICISM, FAMILIAL
id in db is: 290468
inserted disease: 253590 OMIM MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY
id in db is: 290469
inserted disease: 258840 OMIM 258840 ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS
id in db is: 290470
inserted disease: 147330 OMIM INCISORS, LOWER CENTRAL, ABSENCE OF
id in db is: 290471
inserted disease: 212790 OMIM PREMATURE CENTROMERE DIVISION; PCD
id in db is: 290472
inserted disease: 148600 OMIM KERATOSIS PALMOPLANTARIS PAPULOSA
id in db is: 290473
inserted disease: 207900 OMIM #207900 ARGININOSUCCINIC ACIDURIA;;ARGININOSUCCINASE DEFICIENCY;;ARGININOSUCCINATE LYASE DEFICIENCY;;ASL DEFICIENCY;;ARGININOSUCCINIC ACID LYASE DEFICIENCY
id in db is: 290474
inserted disease: 300280 OMIM 300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME;;FCMS;;FACIOCARDIOMUSCULOSKELETAL SYNDROME, URUGUAY TYPE
id in db is: 290475
inserted disease: 785 ORPHA Estrogen resistance syndrome
id in db is: 290476
inserted disease: 608895 OMIM #608895 NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION;HNARMDMACULAR DEGENERATION, AGE-RELATED, 3, INCLUDED; ARMD3, INCLUDED
id in db is: 290477
inserted disease: 3095 ORPHA Atypical Rett syndrome
id in db is: 290478
inserted disease: 614036 OMIM 614036 ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD
id in db is: 290479
inserted disease: 602849 OMIM #602849 MUENKE SYNDROME; MNKES;;MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS
id in db is: 290480
inserted disease: 252350 OMIM MOYAMOYA DISEASE 1
id in db is: 290481
inserted disease: 250100 OMIM #250100 METACHROMATIC LEUKODYSTROPHY;;MLD;;METACHROMATIC LEUKOENCEPHALOPATHY;;CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM;;SULFATIDE LIPIDOSIS;;ARYLSULFATASE A DEFICIENCY;;ARSA DEFICIENCY;;CEREBROSIDE SULFATASE DEFICIENCYPSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED;;METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED;;METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED;;METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED
id in db is: 290482
inserted disease: 615952 OMIM AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET; ADMIO
id in db is: 290483
inserted disease: 309350 OMIM MELNICK-NEEDLES SYNDROME
id in db is: 290484
inserted disease: 608751 OMIM #608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8;;CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 1
id in db is: 290485
inserted disease: 615286 OMIM #615286 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
id in db is: 290486
inserted disease: 500003 OMIM STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
id in db is: 290487
inserted disease: 609820 OMIM ERYTHROCYTOSIS, FAMILIAL, 3
id in db is: 290488
inserted disease: 616436 OMIM EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7
id in db is: 290489
inserted disease: 268249 ORPHA Mycophenolate mofetil embryopathy
id in db is: 290490
inserted disease: 612780 OMIM #612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, ANDELECTROLYTE IMBALANCE; SESAMES;;SESAME SYNDROME;;EPILEPSY, ATAXIA, SENSORINEURAL DEAFNESS, AND TUBULOPATHY;;EAST SYNDROME
id in db is: 290491
inserted disease: 41 ORPHA Dyschromatosis symmetrica hereditaria
id in db is: 290492
inserted disease: 177300 OMIM PSEUDOARTHROGRYPOSIS
id in db is: 290493
inserted disease: 113300 OMIM BRACHYDACTYLY, TYPE E
id in db is: 290494
inserted disease: 95494 ORPHA Combined pituitary hormone deficiencies, genetic forms
id in db is: 290495
inserted disease: 167400 OMIM PAROXYSMAL EXTREME PAIN DISORDER
id in db is: 290496
inserted disease: 210122 ORPHA Congenital alveolar capillary dysplasia
id in db is: 290497
inserted disease: 600975 OMIM GLAUCOMA 3, PRIMARY INFANTILE, B
id in db is: 290498
inserted disease: 79284 ORPHA Methylmalonic acidemia with homocystinuria type cblF
id in db is: 290499
inserted disease: 99330 ORPHA 49,XYYYY syndrome
id in db is: 290500
inserted disease: 180210 OMIM RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT
id in db is: 290501
inserted disease: 182920 OMIM MYOPATHY, SPHEROID BODY
id in db is: 290502
inserted disease: 1466 ORPHA COFS syndrome
id in db is: 290503
inserted disease: 221745 OMIM 221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE
id in db is: 290504
inserted disease: 607508 OMIM MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5
id in db is: 290505
inserted disease: 2889 ORPHA Pili torti
id in db is: 290506
inserted disease: 311450 OMIM 311450 PALLISTER W SYNDROME;;W SYNDROME
id in db is: 290507
inserted disease: 614941 OMIM #614941 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE; ECTD11B;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED;;ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA
id in db is: 290508
inserted disease: 601583 OMIM WILMS TUMOR 5
id in db is: 290509
inserted disease: 251255 OMIM #251255 JAWAD SYNDROME; JWDS;;KELLY SYNDROME;;MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES
id in db is: 290510
inserted disease: 312600 OMIM #312600 RETINITIS PIGMENTOSA 2; RP2
id in db is: 290511
inserted disease: 615774 OMIM #615774 OOCYTE MATURATION DEFECT; OOMD
id in db is: 290512
inserted disease: 115195 OMIM CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
id in db is: 290513
inserted disease: 166250 OMIM #166250 OSTEOGLOPHONIC DYSPLASIA; OGD;;OSTEOGLOPHONIC DWARFISM
id in db is: 290514
inserted disease: 613791 OMIM MASP2 DEFICIENCY
id in db is: 290515
inserted disease: 302700 OMIM CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE
id in db is: 290516
inserted disease: 2790 ORPHA Autosomal dominant osteosclerosis, Worth type
id in db is: 290517
inserted disease: 613671 OMIM #613671 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS;MRAMS
id in db is: 290518
inserted disease: 614306 OMIM COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT
id in db is: 290519
inserted disease: 2261 ORPHA Hypospadias-intellectual disability, Goldblatt type syndrome
id in db is: 290520
inserted disease: 727 ORPHA Microscopic polyangiitis
id in db is: 290521
inserted disease: 79432 ORPHA Oculocutaneous albinism type 2
id in db is: 290522
inserted disease: 218030 OMIM #218030 APPARENT MINERALOCORTICOID EXCESS; AME;;AME1;;CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
id in db is: 290523
inserted disease: 2479 ORPHA Megalocornea-intellectual disability syndrome
id in db is: 290524
inserted disease: 233670 OMIM GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS
id in db is: 290525
inserted disease: 271530 OMIM %271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE;;BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK;;SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA
id in db is: 290526
inserted disease: 367 ORPHA Glycogen storage disease due to glycogen branching enzyme deficiency
id in db is: 290527
inserted disease: 79455 ORPHA Cutaneous mastocytoma
id in db is: 290528
inserted disease: 226310 ORPHA Peripheral hypothyroidism
id in db is: 290529
inserted disease: 3019 ORPHA Ramon syndrome
id in db is: 290530
inserted disease: 600510 OMIM GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1
id in db is: 290531
inserted disease: 615750 OMIM MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6
id in db is: 290532
inserted disease: 605549 OMIM %605549 CONE-ROD DYSTROPHY 8; CORD8
id in db is: 290533
inserted disease: 614678 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B
id in db is: 290534
inserted disease: 974 ORPHA Adams-Oliver syndrome
id in db is: 290535
inserted disease: 163934 ORPHA Atopic keratoconjunctivitis
id in db is: 290536
inserted disease: 2090 ORPHA GMS syndrome
id in db is: 290537
inserted disease: 615344 OMIM #615344 PULMONARY HYPERTENSION, PRIMARY, 4; PPH4
id in db is: 290538
inserted disease: 108145 OMIM #108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5;;ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;;OCULOMELIC AMYOPLASIA;;ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB
id in db is: 290539
inserted disease: 614883 OMIM #614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED;CG13, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP H, INCLUDED;CGH, INCLUDED
id in db is: 290540
inserted disease: 615023 OMIM %615023 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9
id in db is: 290541
inserted disease: 155800 OMIM MELANOSIS, UNIVERSAL
id in db is: 290542
inserted disease: 272800 OMIM TAY-SACHS DISEASE
id in db is: 290543
inserted disease: 612347 OMIM #612347 JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2
id in db is: 290544
inserted disease: 606966 OMIM NEPHRONOPHTHISIS 4
id in db is: 290545
inserted disease: 1277 ORPHA Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
id in db is: 290546
inserted disease: 616115 OMIM FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4
id in db is: 290547
inserted disease: 226500 OMIM %226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA;;EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESS;;EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVE; EBR3
id in db is: 290548
inserted disease: 2575 ORPHA Cystic fibrosis-gastritis-megaloblastic anemia syndrome
id in db is: 290549
inserted disease: 600251 OMIM FACIAL CLEFTING, OBLIQUE, 1; OBLFC1
id in db is: 290550
inserted disease: 3266 ORPHA Humero-radio-ulnar synostosis
id in db is: 290551
inserted disease: 302000 OMIM BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE
id in db is: 290552
inserted disease: 2842 ORPHA Penoscrotal transposition
id in db is: 290553
inserted disease: 2110 ORPHA Hallux varus-preaxial polysyndactyly syndrome
id in db is: 290554
inserted disease: 93328 ORPHA Autosomal dominant omodysplasia
id in db is: 290555
inserted disease: 602613 OMIM SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL
id in db is: 290556
inserted disease: 613818 OMIM #613818 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9;;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED
id in db is: 290557
inserted disease: 615665 OMIM #615665 JOUBERT SYNDROME 22; JBTS22
id in db is: 290558
inserted disease: 248600 OMIM MAPLE SYRUP URINE DISEASE
id in db is: 290559
inserted disease: 255125 OMIM MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
id in db is: 290560
inserted disease: 601453 OMIM 601453 TRICHODENTAL DYSPLASIA
id in db is: 290561
inserted disease: 604717 OMIM DEAFNESS, AUTOSOMAL DOMINANT 20
id in db is: 290562
inserted disease: 273120 OMIM TERATOMA, PINEAL
id in db is: 290563
inserted disease: 615214 OMIM #615214 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT
id in db is: 290564
inserted disease: 2476 ORPHA Dysraphism-cleft lip/palate-limb reduction defects syndrome
id in db is: 290565
inserted disease: 2019 ORPHA Femur-fibula-ulna complex
id in db is: 290566
inserted disease: 614607 OMIM #614607 MENTAL RETARDATION, AUTOSOMAL DOMINANT 14; MRD14
id in db is: 290567
inserted disease: 131960 OMIM #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP;;SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES ANDCHILDHOOD BLISTERING
id in db is: 290568
inserted disease: 2 DECIPHER Cri du Chat Syndrome (5p deletion)
id in db is: 290569
inserted disease: 300622 OMIM #300622 TN POLYAGGLUTINATION SYNDROME; TNPS;;GALACTOSYLTRANSFERASE DEFICIENCY
id in db is: 290570
inserted disease: 2442 ORPHA X-linked lymphoproliferative disease
id in db is: 290571
inserted disease: 231060 OMIM GENITOPALATOCARDIAC SYNDROME
id in db is: 290572
inserted disease: 614293 OMIM #614293 HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2;;HYDATIDIFORM MOLE, BIPARENTAL COMPLETE
id in db is: 290573
inserted disease: 233450 OMIM GOODPASTURE SYNDROME
id in db is: 290574
inserted disease: 604777 OMIM #604777 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5;;ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMALRECESSIVE; NNCI;;ICHTHYOSIS CONGENITA III;;ICHTHYOSIS, LAMELLAR, 3, FORMERLY; LI3, FORMERLY
id in db is: 290575
inserted disease: 118400 OMIM #118400 CHERUBISM;;CRBM
id in db is: 290576
inserted disease: 613342 OMIM BRACHYDACTYLOUS DWARFISM, MSELENI TYPE
id in db is: 290577
inserted disease: 1914 ORPHA Embryofetopathy due to oral anticoagulant therapy
id in db is: 290578
inserted disease: 235255 OMIM %235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIALPOLYDACTYLY;;URIOSTE SYNDROME
id in db is: 290579
inserted disease: 613736 OMIM ACNE INVERSA, FAMILIAL, 2; ACNINV2
id in db is: 290580
inserted disease: 51 ORPHA Aicardi-Goutières syndrome
id in db is: 290581
inserted disease: 2256 ORPHA Fibulo-ulnar hypoplasia-renal anomalies syndrome
id in db is: 290582
inserted disease: 238468 ORPHA Hypohidrotic ectodermal dysplasia
id in db is: 290583
inserted disease: 2085 ORPHA Glaucoma-sleep apnea syndrome
id in db is: 290584
inserted disease: 128400 OMIM EAR FLARE
id in db is: 290585
inserted disease: 613710 OMIM #613710 THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATIONAND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4;;BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY;;STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY
id in db is: 290586
inserted disease: 256100 OMIM NEPHRONOPHTHISIS 1
id in db is: 290587
inserted disease: 2679 ORPHA Infantile axonal neuropathy
id in db is: 290588
inserted disease: 2722 ORPHA Odonto-onycho dysplasia-alopecia syndrome
id in db is: 290589
inserted disease: 609162 OMIM CZECH DYSPLASIA, METATARSAL TYPE
id in db is: 290590
inserted disease: 616603 OMIM #616603 CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3
id in db is: 290591
inserted disease: 141749 OMIM FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
id in db is: 290592
inserted disease: 605822 OMIM SPONDYLOOCULAR SYNDROME; SOS
id in db is: 290593
inserted disease: 224000 OMIM DYSAUTONOMIA-LIKE DISORDER
id in db is: 290594
inserted disease: 109120 OMIM 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES;;DE HAUWERE SYNDROME;;IRIS DYSPLASIA WITH OCULAR HYPERTELORISM, PSYCHOMOTOR RETARDATION,AND SENSORINEURAL DEAFNESS
id in db is: 290595
inserted disease: 2408 ORPHA Lowe-Kohn-Cohen syndrome
id in db is: 290596
inserted disease: 225753 OMIM #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA
id in db is: 290597
inserted disease: 234000 OMIM FACTOR XII DEFICIENCY
id in db is: 290598
inserted disease: 310980 OMIM OMPHALOCELE
id in db is: 290599
inserted disease: 609533 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 23
id in db is: 290600
inserted disease: 610024 OMIM #610024 RETINAL CONE DYSTROPHY 3A; RCD3A;;CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES,PDE6H-RELATEDACHROMATOPSIA 6, INCLUDED; ACHM6, INCLUDED
id in db is: 290601
inserted disease: 610733 OMIM #610733 NOONAN SYNDROME 4; NS4
id in db is: 290602
inserted disease: 159950 OMIM MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
id in db is: 290603
inserted disease: 600803 OMIM #600803 GALLBLADDER DISEASE 1; GBD1;;CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED; LPAC
id in db is: 290604
inserted disease: 280062 ORPHA Calciphylaxis
id in db is: 290605
inserted disease: 243450 OMIM ISOVALERIC ACID, INABILITY TO SMELL
id in db is: 290606
inserted disease: 400003 OMIM DELETED IN AZOOSPERMIA
id in db is: 290607
inserted disease: 145200 OMIM HYPERPIGMENTATION OF FULDAUER AND KUIJPERS
id in db is: 290608
inserted disease: 194380 OMIM #194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA; DHS;;DEHYDRATED HEREDITARY STOMATOCYTOSIS;;XEROCYTOSIS, HEREDITARY;;DESICCYTOSIS, HEREDITARY;;STOMATOCYTOSIS I;;PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;;PSEUDOHYPERKALEMIA EDINBURGH
id in db is: 290609
inserted disease: 219300 OMIM CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY
id in db is: 290610
inserted disease: 2884 ORPHA Piebaldism
id in db is: 290611
inserted disease: 300301 OMIM #300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,AND LYMPHEDEMA; OLEDAID
id in db is: 290612
inserted disease: 610829 OMIM #610829 HOLOPROSENCEPHALY 9; HPE9;;PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES;;HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES
id in db is: 290613
inserted disease: 162200 OMIM #162200 NEUROFIBROMATOSIS, TYPE I; NF1;;NEUROFIBROMATOSIS, PERIPHERAL TYPE;;VON RECKLINGHAUSEN DISEASE
id in db is: 290614
inserted disease: 248770 OMIM MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL
id in db is: 290615
inserted disease: 613730 OMIM #613730 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,AND CATARACTS; HDBSCC
id in db is: 290616
inserted disease: 1572 ORPHA Common variable immunodeficiency
id in db is: 290617
inserted disease: 259050 OMIM OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES
id in db is: 290618
inserted disease: 256120 OMIM 256120 NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM
id in db is: 290619
inserted disease: 1946 ORPHA Amelo-cerebro-hypohidrotic syndrome
id in db is: 290620
inserted disease: 600458 OMIM 600458 ADENOMYOSIS
id in db is: 290621
inserted disease: 1980 ORPHA Bilateral striopallidodentate calcinosis
id in db is: 290622
inserted disease: 614219 OMIM #614219 ADAMS-OLIVER SYNDROME 2; AOS2
id in db is: 290623
inserted disease: 300555 OMIM #300555 DENT DISEASE 2
id in db is: 290624
inserted disease: 1352 ORPHA Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
id in db is: 290625
inserted disease: 69736 ORPHA Bilateral acute depigmentation of the iris
id in db is: 290626
inserted disease: 612020 OMIM #612020 SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39;;NTE-RELATED MOTOR NEURON DISORDER; NTEMND
id in db is: 290627
inserted disease: 98797 ORPHA Isochromosomy Yp
id in db is: 290628
inserted disease: 223540 OMIM 223540 DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY;;MOLLICA SYNDROME
id in db is: 290629
inserted disease: 300602 OMIM CLARK-BARAITSER SYNDROME
id in db is: 290630
inserted disease: 155310 OMIM #155310 VISCERAL MYOPATHY; VSCM;;MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;;INFANTILE VISCERAL MYOPATHY;;MEGADUODENUM AND/OR MEGACYSTIS;;BERDON SYNDROME;;PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL
id in db is: 290631
inserted disease: 601216 OMIM DENTAL ANOMALIES AND SHORT STATURE; DASS
id in db is: 290632
inserted disease: 424 ORPHA Familial hyperthyroidism due to mutations in TSH receptor
id in db is: 290633
inserted disease: 223300 OMIM 223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY
id in db is: 290634
inserted disease: 245590 OMIM #245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY;;LARON SYNDROME DUE TO POSTRECEPTOR DEFECT;;GROWTH HORMONE INSENSITIVITY DUE TO POSTRECEPTOR DEFECT
id in db is: 290635
inserted disease: 309549 OMIM #309549 MENTAL RETARDATION, X-LINKED 9; MRX9;;MENTAL RETARDATION, X-LINKED 44; MRX44
id in db is: 290636
inserted disease: 615411 OMIM #615411 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3
id in db is: 290637
inserted disease: 613950 OMIM #613950 SCHIZOPHRENIA 15; SCZD15;;SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED
id in db is: 290638
inserted disease: 79107 ORPHA Developmental malformations-deafness-dystonia syndrome
id in db is: 290639
inserted disease: 211350 OMIM KYPHOMELIC DYSPLASIA
id in db is: 290640
inserted disease: 260470 OMIM PANENCEPHALITIS, SUBACUTE SCLEROSING
id in db is: 290641
inserted disease: 609796 OMIM PEELING SKIN SYNDROME, ACRAL TYPE
id in db is: 290642
inserted disease: 616052 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7; MDDGC7
id in db is: 290643
inserted disease: 122750 OMIM COXA VARA
id in db is: 290644
inserted disease: 610582 OMIM #610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3;;TNDM3DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED
id in db is: 290645
inserted disease: 614928 OMIM %614928 ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6
id in db is: 290646
inserted disease: 1305 ORPHA Feingold syndrome
id in db is: 290647
inserted disease: 611126 OMIM #611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF;;ACAD9 DEFICIENCY;;MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
id in db is: 290648
inserted disease: 268310 OMIM #268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS;;COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY;;COVESDEM SYNDROME, FORMERLYROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OFPHALANGES AND METACARPALS/METATARSALS, INCLUDED;;ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY,INCLUDED
id in db is: 290649
inserted disease: 223320 OMIM 223320 DIVERTICULOSIS, SMALL-INTESTINAL
id in db is: 290650
inserted disease: 260450 OMIM PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE
id in db is: 290651
inserted disease: 607453 OMIM #607453 DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44
id in db is: 290652
inserted disease: 166002 ORPHA Multiple epiphyseal dysplasia due to collagen 9 anomaly
id in db is: 290653
inserted disease: 494 ORPHA Keratoderma hereditarium mutilans
id in db is: 290654
inserted disease: 1115 ORPHA Recessive aplasia cutis congenita of limbs
id in db is: 290655
inserted disease: 300943 OMIM #300943 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 2; PAGH2;;ACROMEGALY DUE TO PITUITARY ADENOMA 2;;ACROMEGALY, X-LINKED
id in db is: 290656
inserted disease: 615960 OMIM PORETTI-BOLTSHAUSER SYNDROME; PTBHS
id in db is: 290657
inserted disease: 194320 OMIM WORONETS TRAIT
id in db is: 290658
inserted disease: 266250 OMIM RADICULONEUROPATHY, FATAL NEONATAL
id in db is: 290659
inserted disease: 1318 ORPHA Campomelia, Cumming type
id in db is: 290660
inserted disease: 614847 OMIM #614847 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12
id in db is: 290661
inserted disease: 615986 OMIM BARDET-BIEDL SYNDROME 9; BBS9
id in db is: 290662
inserted disease: 308100 OMIM ICHTHYOSIS, X-LINKED
id in db is: 290663
inserted disease: 2053 ORPHA Freeman-Sheldon syndrome
id in db is: 290664
inserted disease: 606719 OMIM #606719 MELANOMA-PANCREATIC CANCER SYNDROME;;FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA-PANCREATIC CARCINOMA SYNDROME;FAMMMPC
id in db is: 290665
inserted disease: 106070 OMIM ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED
id in db is: 290666
inserted disease: 145590 OMIM HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA
id in db is: 290667
inserted disease: 252930 OMIM #252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC;;MPS IIIC; MPS3C;;SANFILIPPO SYNDROME C;;ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
id in db is: 290668
inserted disease: 602086 OMIM %602086 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 3; ARVC3
id in db is: 290669
inserted disease: 39044 ORPHA Uveal melanoma
id in db is: 290670
inserted disease: 154850 OMIM MASTICATORY MUSCLES, HYPERTROPHY OF
id in db is: 290671
inserted disease: 613122 OMIM #613122 CARDIOMYOPATHY, DILATED, 1CC; CMD1CC
id in db is: 290672
inserted disease: 85295 ORPHA HSD10 disease, atypical type
id in db is: 290673
inserted disease: 308230 OMIM IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
id in db is: 290674
inserted disease: 236250 OMIM #236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY;;METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY;;MTHFR DEFICIENCYMTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED
id in db is: 290675
inserted disease: 130050 OMIM EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
id in db is: 290676
inserted disease: 616629 OMIM #616629 SENIOR-LOKEN SYNDROME 9; SLSN9
id in db is: 290677
inserted disease: 102660 OMIM ADAMANTINOMA OF LONG BONES
id in db is: 290678
inserted disease: 3380 ORPHA Trisomy 18
id in db is: 290679
inserted disease: 300850 OMIM MENTAL RETARDATION, X-LINKED 90; MRX90
id in db is: 290680
inserted disease: 1995 ORPHA Cleft lip-retinopathy syndrome
id in db is: 290681
inserted disease: 97231 ORPHA Ligneous conjunctivitis
id in db is: 290682
inserted disease: 251190 OMIM 251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE
id in db is: 290683
inserted disease: 36 ORPHA Acrocallosal syndrome
id in db is: 290684
inserted disease: 184250 OMIM #184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK;;SEMD, STRUDWICK TYPE;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE;;SMED, STRUDWICK TYPE;;SMED, TYPE I;;STRUDWICK SYNDROME;;DAPPLED METAPHYSIS SYNDROME;;SPONDYLOMETAPHYSEAL DYSPLASIA; SMD;;SEMDC
id in db is: 290685
inserted disease: 1147 ORPHA Sheldon-Hall syndrome
id in db is: 290686
inserted disease: 604928 OMIM WOLFRAM SYNDROME 2; WFS2
id in db is: 290687
inserted disease: 14 DECIPHER Prader-Willi syndrome (Type 1)
id in db is: 290688
inserted disease: 145400 OMIM HYPERTELORISM
id in db is: 290689
inserted disease: 300471 OMIM CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES
id in db is: 290690
inserted disease: 610508 OMIM #610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7
id in db is: 290691
inserted disease: 309560 OMIM MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS
id in db is: 290692
inserted disease: 131900 OMIM #131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED;;EBS, GENERALIZED;;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE
id in db is: 290693
inserted disease: 3400 ORPHA Aorto-ventricular tunnel
id in db is: 290694
inserted disease: 253 ORPHA Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
id in db is: 290695
inserted disease: 37748 ORPHA Schnitzler syndrome
id in db is: 290696
inserted disease: 847 ORPHA Alpha-thalassemia-X-linked intellectual disability syndrome
id in db is: 290697
inserted disease: 956 ORPHA Acro-pectoro-renal dysplasia
id in db is: 290698
inserted disease: 187650 OMIM THEOPHYLLINE BIOTRANSFORMATION
id in db is: 290699
inserted disease: 615057 OMIM #615057 BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME; BPIDS;;BPID SYNDROME;;BLEPHAROPHIMOSIS-PTOSIS-MENTAL RETARDATION SYNDROME
id in db is: 290700
inserted disease: 113470 OMIM 113470 BRACHYMESOMELIA-RENAL SYNDROME
id in db is: 290701
inserted disease: 226295 ORPHA Primary congenital hypothyroidism
id in db is: 290702
inserted disease: 603776 OMIM #603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3;;FH3LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS1, INCLUDED; LDLCQ1, INCLUDED
id in db is: 290703
inserted disease: 178303 ORPHA 8q22.1 microdeletion syndrome
id in db is: 290704
inserted disease: 610125 OMIM #610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED
id in db is: 290705
inserted disease: 613606 OMIM %613606 FORSYTHE-WAKELING SYNDROME; FWS;;MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTICSYNDROME AND THROMBOCYTOPENIA
id in db is: 290706
inserted disease: 251000 OMIM #251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY;;METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCYMMA DUE TO MCM DEFICIENCY;;METHYLMALONIC ACIDURIA, mut TYPEMETHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED;;METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED
id in db is: 290707
inserted disease: 226700 OMIM #226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE;;EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE;;JEB-HERLITZ TYPE;;EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE;;HERLITZ-PEARSON-TYPE EPIDERMOLYSIS BULLOSA;;EPIDERMOLYSIS BULLOSA LETALIS
id in db is: 290708
inserted disease: 613480 OMIM #613480 LYMPHEDEMA, HEREDITARY, IC;;LMPH1C
id in db is: 290709
inserted disease: 601372 OMIM CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT
id in db is: 290710
inserted disease: 2489 ORPHA Upper limb defect-eye and ear abnormalities syndrome
id in db is: 290711
inserted disease: 264700 OMIM #264700 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A;;VITAMIN D-DEPENDENT RICKETS, TYPE 1A;;1@-ALPHA, 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;;25-@HYDROXYCHOLECALCIFEROL-1-HYDROXYLASE DEFICIENCY;;1-@ALPHA-HYDROXYLASE DEFICIENCY;;VITAMIN D DEPENDENCY, TYPE 1; VDD1;;PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; PDDR1A;;PDDR IA
id in db is: 290712
inserted disease: 608029 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6
id in db is: 290713
inserted disease: 33226 ORPHA Waldenström macroglobulinemia
id in db is: 290714
inserted disease: 216100 OMIM CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY
id in db is: 290715
inserted disease: 606851 OMIM CREE MENTAL RETARDATION SYNDROME
id in db is: 290716
inserted disease: 601352 OMIM MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE
id in db is: 290717
inserted disease: 613376 OMIM #613376 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C;;HMN IIC;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC;;DHMN2C
id in db is: 290718
inserted disease: 134500 OMIM FACTOR VIII DEFICIENCY
id in db is: 290719
inserted disease: 212835 OMIM 212835 CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA
id in db is: 290720
inserted disease: 903 ORPHA Von Willebrand disease
id in db is: 290721
inserted disease: 208600 OMIM ASTHMA, SHORT STATURE, AND ELEVATED IGA
id in db is: 290722
inserted disease: 208550 OMIM ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE
id in db is: 290723
inserted disease: 616373 OMIM PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3
id in db is: 290724
inserted disease: 2632 ORPHA Langer mesomelic dysplasia
id in db is: 290725
inserted disease: 607317 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
id in db is: 290726
inserted disease: 607832 OMIM #607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3;;GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, SUSCEPTIBILITY TO
id in db is: 290727
inserted disease: 152600 OMIM LUNULAE OF FINGERNAILS
id in db is: 290728
inserted disease: 614192 OMIM #614192 MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME; MMFD
id in db is: 290729
inserted disease: 124000 OMIM #124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1
id in db is: 290730
inserted disease: 608049 OMIM AUTISM, SUSCEPTIBILITY TO, 3; AUTS3
id in db is: 290731
inserted disease: 139210 OMIM #139210 MYHRE SYNDROME; MYHRS;;GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;;LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE;LAPS SYNDROME
id in db is: 290732
inserted disease: 580 ORPHA Mucopolysaccharidosis type 2
id in db is: 290733
inserted disease: 604922 OMIM CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA
id in db is: 290734
inserted disease: 614424 OMIM #614424 JOUBERT SYNDROME 14; JBTS14
id in db is: 290735
inserted disease: 616249 OMIM LONG QT SYNDROME 15; LQT15
id in db is: 290736
inserted disease: 115800 OMIM CATARACT, CRYSTALLINE CORALLIFORM
id in db is: 290737
inserted disease: 166600 OMIM OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
id in db is: 290738
inserted disease: 608474 OMIM MYOPIA 5
id in db is: 290739
inserted disease: 313500 OMIM TOOTH AGENESIS, SELECTIVE, X-LINKED, 1
id in db is: 290740
inserted disease: 615378 OMIM #615378 ATRIAL FIBRILLATION, FAMILIAL, 14; ATFB14
id in db is: 290741
inserted disease: 150230 OMIM #150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2;;LANGER-GIEDION SYNDROME; LGS;;CHROMOSOME 8q24.1 DELETION SYNDROME
id in db is: 290742
inserted disease: 164230 OMIM #164230 OBSESSIVE-COMPULSIVE DISORDER; OCD
id in db is: 290743
inserted disease: 300589 OMIM %300589 NYSTAGMUS 5, CONGENITAL, X-LINKED; NYS5
id in db is: 290744
inserted disease: 614696 OMIM #614696 AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17;;AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED
id in db is: 290745
inserted disease: 615156 OMIM #615156 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 6; PEOA6;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 6
id in db is: 290746
inserted disease: 183090 OMIM SPINOCEREBELLAR ATAXIA 2
id in db is: 290747
inserted disease: 261476 ORPHA Monosomy Xp21
id in db is: 290748
inserted disease: 610359 OMIM #610359 RETINITIS PIGMENTOSA 33; RP33
id in db is: 290749
inserted disease: 140933 ORPHA Linear atrophoderma of Moulin
id in db is: 290750
inserted disease: 218600 OMIM #218600 BALLER-GEROLD SYNDROME; BGS;;CRANIOSYNOSTOSIS WITH RADIAL DEFECTS;;CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
id in db is: 290751
inserted disease: 251014 ORPHA 2q31.1 microdeletion syndrome
id in db is: 290752
inserted disease: 129100 OMIM EARS, ABILITY TO MOVE
id in db is: 290753
inserted disease: 615980 OMIM LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6
id in db is: 290754
inserted disease: 370924 ORPHA STT3B-CDG
id in db is: 290755
inserted disease: 2414 ORPHA Congenital pulmonary lymphangiectasia
id in db is: 290756
inserted disease: 178200 OMIM PTERYGIUM, ANTECUBITAL
id in db is: 290757
inserted disease: 607569 OMIM MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT
id in db is: 290758
inserted disease: 209700 OMIM ATROPHODERMA VERMICULATA; AVA
id in db is: 290759
inserted disease: 153300 OMIM %153300 YELLOW NAIL SYNDROME;;YNS;;LYMPHEDEMA AND YELLOW NAILS
id in db is: 290760
inserted disease: 263630 OMIM %263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION;;BONNEAU SYNDROME
id in db is: 290761
inserted disease: 309580 OMIM #309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1;;SMITH-FINEMAN-MYERS SYNDROME 1; SFM1;;SFMS;;XLMR-HYPOTONIC FACIES SYNDROME;;CARPENTER-WAZIRI SYNDROME;;CHUDLEY-LOWRY SYNDROME;;JUBERG-MARSIDI SYNDROME; JMS;;HOLMES-GANG SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, ANDMICROGENITALISM
id in db is: 290762
inserted disease: 203450 OMIM ALEXANDER DISEASE
id in db is: 290763
inserted disease: 615501 OMIM #615501 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC
id in db is: 290764
inserted disease: 105200 OMIM AMYLOIDOSIS, FAMILIAL VISCERAL
id in db is: 290765
inserted disease: 613204 OMIM #613204 MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY;;MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
id in db is: 290766
inserted disease: 603513 OMIM CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE
id in db is: 290767
inserted disease: 84085 ORPHA Hinman syndrome
id in db is: 290768
inserted disease: 612918 OMIM CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
id in db is: 290769
inserted disease: 276300 OMIM #276300 MISMATCH REPAIR CANCER SYNDROME; MMRCS;;MISMATCH REPAIR DEFICIENCY;;MMR DEFICIENCY;;CHILDHOOD CANCER SYNDROME;;BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTPS1;;BTP1 SYNDROME;;TURCOT SYNDROME;;CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; CMMRDS
id in db is: 290770
inserted disease: 1894 ORPHA Ectrodactyly-spina bifida-cardiopathy syndrome
id in db is: 290771
inserted disease: 3346 ORPHA Tracheal agenesis
id in db is: 290772
inserted disease: 209920 OMIM #209920 BARE LYMPHOCYTE SYNDROME, TYPE II;;BLS, TYPE II;;BARE LYMPHOCYTE SYNDROME; BLS;;SEVERE COMBINED IMMUNODEFICIENCY, HLA CLASS II-NEGATIVE;;SCID, HLA CLASS II-NEGATIVEBARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED;;BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B, INCLUDED;;BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C, INCLUDED;;BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D, INCLUDED;;BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E, INCLUDED
id in db is: 290773
inserted disease: 607487 OMIM #607487 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25; CMH25
id in db is: 290774
inserted disease: 602271 OMIM SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
id in db is: 290775
inserted disease: 614672 OMIM #614672 CARDIOMYOPATHY, DILATED, 2B; CMD2B
id in db is: 290776
inserted disease: 613677 OMIM #613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III;;FH III
id in db is: 290777
inserted disease: 613812 OMIM #613812 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3
id in db is: 290778
inserted disease: 85194 ORPHA Spondylo-ocular syndrome
id in db is: 290779
inserted disease: 90045 ORPHA Hereditary folate malabsorption
id in db is: 290780
inserted disease: 616032 OMIM FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8; FSGS8
id in db is: 290781
inserted disease: 137900 OMIM GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN
id in db is: 290782
inserted disease: 95626 ORPHA Acquired central diabetes insipidus
id in db is: 290783
inserted disease: 90795 ORPHA Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
id in db is: 290784
inserted disease: 210100 OMIM BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF
id in db is: 290785
inserted disease: 231530 OMIM 3-@HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
id in db is: 290786
inserted disease: 73272 ORPHA Growth delay due to insulin-like growth factor type 1 deficiency
id in db is: 290787
inserted disease: 304790 OMIM IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX
id in db is: 290788
inserted disease: 602066 OMIM #602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;ICCA;;INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL;;ICCA SYNDROME;;PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS; PKD/IC
id in db is: 290789
inserted disease: 181180 OMIM SAY SYNDROME
id in db is: 290790
inserted disease: 250230 OMIM 250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE
id in db is: 290791
inserted disease: 104 ORPHA Leber hereditary optic neuropathy
id in db is: 290792
inserted disease: 59303 ORPHA Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
id in db is: 290793
inserted disease: 146750 OMIM ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT
id in db is: 290794
inserted disease: 147900 OMIM JOINT LAXITY, FAMILIAL
id in db is: 290795
inserted disease: 121850 OMIM CORNEAL FLECK DYSTROPHY
id in db is: 290796
inserted disease: 575 ORPHA Muckle-Wells syndrome
id in db is: 290797
inserted disease: 595 ORPHA Centronuclear myopathy
id in db is: 290798
inserted disease: 163050 OMIM NEVUS ANEMICUS
id in db is: 290799
inserted disease: 604169 OMIM LEFT VENTRICULAR NONCOMPACTION 1; LVNC1
id in db is: 290800
inserted disease: 3090 ORPHA Congenital pulmonary venous return anomaly
id in db is: 290801
inserted disease: 215800 OMIM CLEFT LARYNX, POSTERIORSTRIDOR, CONGENITAL, INCLUDED
id in db is: 290802
inserted disease: 99776 ORPHA Mosaic trisomy 9
id in db is: 290803
inserted disease: 614022 OMIM #614022 ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10
id in db is: 290804
inserted disease: 310465 OMIM N SYNDROME
id in db is: 290805
inserted disease: 615280 OMIM #615280 CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4
id in db is: 290806
inserted disease: 181010 OMIM SALIVARY DUCT CALCULI
id in db is: 290807
inserted disease: 616295 OMIM PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS; PLACK
id in db is: 290808
inserted disease: 613193 OMIM #613193 CILIARY DYSKINESIA, PRIMARY, 13; CILD13;;CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS
id in db is: 290809
inserted disease: 210700 OMIM 210700 MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE;;BIRD-HEADED DWARFISM, MONTREAL TYPE
id in db is: 290810
inserted disease: 217095 OMIM #217095 CONOTRUNCAL HEART MALFORMATIONS; CTHMTRUNCUS ARTERIOSUS COMMUNIS, INCLUDED;;CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED; CAFS, INCLUDED;;DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED; DORV, INCLUDED;;PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED; PTA, INCLUDED;;INTERRUPTED AORTIC ARCH, INCLUDED
id in db is: 290811
inserted disease: 230740 OMIM GAPO SYNDROME
id in db is: 290812
inserted disease: 161500 OMIM NASAL GROOVE, FAMILIAL TRANSVERSE
id in db is: 290813
inserted disease: 200100 OMIM #200100 ABETALIPOPROTEINEMIA; ABL;;ACANTHOCYTOSIS;;BASSEN-KORNZWEIG SYNDROME;;MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY;;MTP DEFICIENCY
id in db is: 290814
inserted disease: 608540 OMIM #608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K;;CDG Ik; CDGIk
id in db is: 290815
inserted disease: 608885 OMIM #608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN;;GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS;;CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES,CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY
id in db is: 290816
inserted disease: 609311 OMIM CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H
id in db is: 290817
inserted disease: 3038 ORPHA Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
id in db is: 290818
inserted disease: 1014 ORPHA Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
id in db is: 290819
inserted disease: 114650 OMIM CAR FACTOR DEFICIENCY
id in db is: 290820
inserted disease: 159400 OMIM 159400 MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE;;MYASTHENIA GRAVIS, LIMB-GIRDLE
id in db is: 290821
inserted disease: 401942 ORPHA Familial median cleft of the upper and lower lips
id in db is: 290822
inserted disease: 990 ORPHA Agnathia-holoprosencephaly-situs inversus syndrome
id in db is: 290823
inserted disease: 1865 ORPHA Dyssegmental dysplasia, Silverman-Handmaker type
id in db is: 290824
inserted disease: 1775 ORPHA Dyskeratosis congenita
id in db is: 290825
inserted disease: 2004 ORPHA Laryngo-tracheo-esophageal cleft
id in db is: 290826
inserted disease: 616353 OMIM DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6
id in db is: 290827
inserted disease: 614103 OMIM %614103 LIPEDEMA
id in db is: 290828
inserted disease: 600721 OMIM #600721 D-2-@HYDROXYGLUTARIC ACIDURIA 1;;D2HGA;;D2HGA1
id in db is: 290829
inserted disease: 608161 OMIM #608161 MACULAR DYSTROPHY, VITELLIFORM, 3; VMD3;;VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET; AVMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;;FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION
id in db is: 290830
inserted disease: 612422 OMIM #612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3
id in db is: 290831
inserted disease: 145295 OMIM HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL
id in db is: 290832
inserted disease: 369929 ORPHA Aldosterone-producing adenoma with seizures and neurological abnormalities
id in db is: 290833
inserted disease: 130720 OMIM #130720 LATERAL MENINGOCELE SYNDROME; LMNS;;LMS;;LEHMAN SYNDROME
id in db is: 290834
inserted disease: 717 ORPHA Catecholamine-producing tumor
id in db is: 290835
inserted disease: 212710 OMIM CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME
id in db is: 290836
inserted disease: 125460 OMIM DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY
id in db is: 290837
inserted disease: 166119 ORPHA Isolated osteopoikilosis
id in db is: 290838
inserted disease: 99828 ORPHA Dengue fever
id in db is: 290839
inserted disease: 247450 OMIM LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN
id in db is: 290840
inserted disease: 613571 OMIM #613571 DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY;;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASEDEFICIENCY;;DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY
id in db is: 290841
inserted disease: 232200 OMIM GLYCOGEN STORAGE DISEASE Ia
id in db is: 290842
inserted disease: 247440 OMIM LYMPHEDEMA, CONGENITAL RECESSIVE
id in db is: 290843
inserted disease: 256810 OMIM #256810 MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6;;NAVAJO NEUROHEPATOPATHY; NNH;;NAVAJO NEUROPATHY; NNNAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED
id in db is: 290844
inserted disease: 607004 OMIM %607004 BRACHYDACTYLY, TYPE A1, B; BDA1B
id in db is: 290845
inserted disease: 150600 OMIM LEGG-CALVE-PERTHES DISEASE
id in db is: 290846
inserted disease: 605543 OMIM PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY
id in db is: 290847
inserted disease: 211800 OMIM #211800 CALCIFICATION OF JOINTS AND ARTERIES; CALJA
id in db is: 290848
inserted disease: 232220 OMIM GLYCOGEN STORAGE DISEASE Ib
id in db is: 290849
inserted disease: 607876 OMIM #607876 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2;;BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2; BAFME2;;CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2; FCMTE2;;CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT; ADCME
id in db is: 290850
inserted disease: 604121 OMIM CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN
id in db is: 290851
inserted disease: 79113 ORPHA Mandibulofacial dysostosis-microcephaly syndrome
id in db is: 290852
inserted disease: 245050 OMIM SUCCINYL-COA:3-OXOACID COA TRANSFERASE DEFICIENCY
id in db is: 290853
inserted disease: 33069 ORPHA Dravet syndrome
id in db is: 290854
inserted disease: 543 ORPHA Burkitt lymphoma
id in db is: 290855
inserted disease: 269650 OMIM SECRETORY COMPONENT DEFICIENCY
id in db is: 290856
inserted disease: 614468 OMIM #614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3;;ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; PLAID;;FAMILIAL ATYPICAL COLD URTICARIA; FACU
id in db is: 290857
inserted disease: 36258 ORPHA Buerger disease
id in db is: 290858
inserted disease: 260920 OMIM #260920 HYPER-IgD SYNDROME; HIDS;;HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME;;PERIODIC FEVER, DUTCH TYPE
id in db is: 290859
inserted disease: 613581 OMIM #613581 RETINITIS PIGMENTOSA 56; RP56MACULOPATHY, IMPG2-RELATED, INCLUDED
id in db is: 290860
inserted disease: 226313 ORPHA Congenital hypothyroidism due to maternal intake of antithyroid drugs
id in db is: 290861
inserted disease: 242100 OMIM #242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2; ARCI2;;COLLODION BABY, SELF-HEALING;;ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY; NCIE1,FORMERLY;;ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY
id in db is: 290862
inserted disease: 615824 OMIM MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7
id in db is: 290863
inserted disease: 601608 OMIM SPASTIC PARAPLEGIA AND EVANS SYNDROME
id in db is: 290864
inserted disease: 613457 OMIM CHROMOSOME 14q11-q22 DELETION SYNDROME
id in db is: 290865
inserted disease: 185650 OMIM SYMPHALANGISM, C. S. LEWIS TYPE
id in db is: 290866
inserted disease: 615376 OMIM #615376 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC;;CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C; RI-CMTC
id in db is: 290867
inserted disease: 615065 OMIM ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D
id in db is: 290868
inserted disease: 613079 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77
id in db is: 290869
inserted disease: 159420 OMIM MYDRIASIS, CONGENITAL
id in db is: 290870
inserted disease: 603671 OMIM #603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND
id in db is: 290871
inserted disease: 176200 OMIM PORPHYRIA VARIEGATA
id in db is: 290872
inserted disease: 615994 OMIM BARDET-BIEDL SYNDROME 17; BBS17
id in db is: 290873
inserted disease: 614779 OMIM #614779 HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6
id in db is: 290874
inserted disease: 614823 OMIM #614823 AORTIC VALVE DISEASE 2; AOVD2;;BICUSPID AORTIC VALVE;;AORTIC VALVE STENOSIS
id in db is: 290875
inserted disease: 615503 OMIM #615503 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6
id in db is: 290876
inserted disease: 159410 OMIM MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS
id in db is: 290877
inserted disease: 109600 OMIM BEETURIA
id in db is: 290878
inserted disease: 528 ORPHA Berardinelli-Seip congenital lipodystrophy
id in db is: 290879
inserted disease: 29 DECIPHER Charcot-Marie-Tooth syndrome type 1A (CMT1A)
id in db is: 290880
inserted disease: 1471 ORPHA Coloboma of macula-brachydactyly type B syndrome
id in db is: 290881
inserted disease: 606554 OMIM EPISODIC ATAXIA, TYPE 3
id in db is: 290882
inserted disease: 270970 OMIM SPHEROCYTOSIS, AUTOSOMAL RECESSIVE
id in db is: 290883
inserted disease: 600123 OMIM 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL ANDRADIAL DEFECTS
id in db is: 290884
inserted disease: 2969 ORPHA Proteus-like syndrome
id in db is: 290885
inserted disease: 610253 OMIM #610253 KLEEFSTRA SYNDROME;;CHROMOSOME 9q34.3 DELETION SYNDROME;;9q- SYNDROME;;9q SUBTELOMERIC DELETION SYNDROME
id in db is: 290886
inserted disease: 615984 OMIM BARDET-BIEDL SYNDROME 7; BBS7
id in db is: 290887
inserted disease: 113950 OMIM %113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT
id in db is: 290888
inserted disease: 129490 OMIM #129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;ECTD10A;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED
id in db is: 290889
inserted disease: 145980 OMIM HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I
id in db is: 290890
inserted disease: 172800 OMIM #172800 PIEBALD TRAIT; PBT;;PIEBALDISM
id in db is: 290891
inserted disease: 1490 ORPHA Corneal dystrophy-perceptive deafness syndrome
id in db is: 290892
inserted disease: 93356 ORPHA Spondyloepimetaphyseal dysplasia, Missouri type
id in db is: 290893
inserted disease: 273680 OMIM THANATOPHORIC DYSPLASIA, GLASGOW VARIANT
id in db is: 290894
inserted disease: 601214 OMIM #601214 NAXOS DISEASE; NXD;;CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR,AND NAIL ABNORMALITIES;;MAL DE NAXOS;;KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY;;WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;;PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHYAND WOOLLY HAIR
id in db is: 290895
inserted disease: 300085 OMIM CONE-ROD DYSTROPHY, X-LINKED, 2
id in db is: 290896
inserted disease: 2528 ORPHA Microcephaly-microcornea syndrome, Seemanova type
id in db is: 290897
inserted disease: 614458 OMIM #614458 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHYTYPE); THMD5;;ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY
id in db is: 290898
inserted disease: 608279 OMIM 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS
id in db is: 290899
inserted disease: 1437 ORPHA Ring chromosome 1
id in db is: 290900
inserted disease: 182940 OMIM #182940 NEURAL TUBE DEFECTS;;NTDSPINA BIFIDA, INCLUDED
id in db is: 290901
inserted disease: 615122 OMIM #615122 LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2;;CD27 DEFICIENCY
id in db is: 290902
inserted disease: 136520 OMIM FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROMEFOVEAL HYPOPLASIA, ISOLATED, INCLUDED
id in db is: 290903
inserted disease: 612446 OMIM #612446 COMPLEMENT COMPONENT 6 DEFICIENCY; C6D;;C6 DEFICIENCYCOMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL, INCLUDED;;C6 DEFICIENCY, SUBTOTAL, INCLUDED
id in db is: 290904
inserted disease: 256800 OMIM #256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA;;NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS;;HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV; HSAN4;;HSAN IV;;FAMILIAL DYSAUTONOMIA, TYPE II
id in db is: 290905
inserted disease: 161050 OMIM %161050 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1; NDNC1;;TWENTY-NAIL DYSTROPHY;;ONYCHODYSTROPHY TOTALIS, ISOLATEDNAIL GROWTH, INCLUDED
id in db is: 290906
inserted disease: 604131 OMIM #604131 ALPHA-THALASSEMIA
id in db is: 290907
inserted disease: 36382 ORPHA Familial cervical artery dissection
id in db is: 290908
inserted disease: 607565 OMIM 607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION;;SPAR
id in db is: 290909
inserted disease: 204690 OMIM 204690 ENAMEL-RENAL SYNDROME; ERS;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND NEPHROCALCINOSIS;;AMELOGENESIS IMPERFECTA, TYPE IG; AI1G
id in db is: 290910
inserted disease: 255995 OMIM #255995 NATIVE AMERICAN MYOPATHY; NAM;;MYOPATHY, CONGENITAL, WITH CLEFT PALATE AND MALIGNANT HYPERTHERMIA
id in db is: 290911
inserted disease: 257500 OMIM OBESITY-HYPOVENTILATION SYNDROME
id in db is: 290912
inserted disease: 300957 OMIM MENTAL RETARDATION, X-LINKED 12; MRX12
id in db is: 290913
inserted disease: 227400 OMIM FACTOR V DEFICIENCY
id in db is: 290914
inserted disease: 231005 OMIM GAUCHER DISEASE, TYPE IIIC
id in db is: 290915
inserted disease: 166230 OMIM 166230 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIANBONES, BUT WITHOUT FRACTURES
id in db is: 290916
inserted disease: 233910 OMIM #233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B;;HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASEI DEFICIENCY;;GTP CYCLOHYDROLASE I DEFICIENCYDYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,AUTOSOMAL RECESSIVE, INCLUDED
id in db is: 290917
inserted disease: 607602 OMIM ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
id in db is: 290918
inserted disease: 779 ORPHA Reynolds syndrome
id in db is: 290919
inserted disease: 143400 OMIM CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
id in db is: 290920
inserted disease: 609254 OMIM SENIOR-LOKEN SYNDROME 5; SLSN5
id in db is: 290921
inserted disease: 281122 ORPHA Self-healing collodion baby
id in db is: 290922
inserted disease: 352582 ORPHA Familial infantile myoclonic epilepsy
id in db is: 290923
inserted disease: 1661 ORPHA X-linked corneal dermoid
id in db is: 290924
inserted disease: 616217 OMIM NEPHRONOPHTHISIS 19; NPHP19
id in db is: 290925
inserted disease: 1453 ORPHA Cleidorhizomelic syndrome
id in db is: 290926
inserted disease: 732 ORPHA Polymyositis
id in db is: 290927
inserted disease: 271510 OMIM %271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE;;SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES;;SPONASTRIME DYSPLASIA;;SHORT-LIMB DWARFISM WITH SADDLE NOSE, SPINAL ALTERATIONS, AND METAPHYSEALSTRIATION
id in db is: 290928
inserted disease: 616271 OMIM 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN
id in db is: 290929
inserted disease: 90354 ORPHA Brittle cornea syndrome
id in db is: 290930
inserted disease: 609945 OMIM 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
id in db is: 290931
inserted disease: 177050 OMIM PROTRUSIO ACETABULI
id in db is: 290932
inserted disease: 612389 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B
id in db is: 290933
inserted disease: 614609 OMIM #614609 MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16
id in db is: 290934
inserted disease: 615158 OMIM #615158 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3
id in db is: 290935
inserted disease: 613697 OMIM CARDIOMYOPATHY, DILATED, 1V
id in db is: 290936
inserted disease: 144020 OMIM HYPERCHOLESTEROLEMIA SUPPRESSOR
id in db is: 290937
inserted disease: 188800 OMIM %188800 TIBIAL TORSION, BILATERAL MEDIAL
id in db is: 290938
inserted disease: 267400 OMIM RENAL, GENITAL, AND MIDDLE EAR ANOMALIES
id in db is: 290939
inserted disease: 969 ORPHA Acromicric dysplasia
id in db is: 290940
inserted disease: 300166 OMIM #300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2;;OCULOFACIOCARDIODENTAL SYNDROME;;OFCD SYNDROME;;MICROPHTHALMIA, CATARACTS, RADICULOMEGALY, AND SEPTAL HEART DEFECTS;;ANOP2, FORMERLY;;MAA2, FORMERLY
id in db is: 290941
inserted disease: 33208 ORPHA Idiopathic hypersomnia
id in db is: 290942
inserted disease: 300210 OMIM #300210 MENTAL RETARDATION, X-LINKED 58; MRX58
id in db is: 290943
inserted disease: 79302 ORPHA Congenital bile acid synthesis defect type 3
id in db is: 290944
inserted disease: 164210 OMIM HEMIFACIAL MICROSOMIA
id in db is: 290945
inserted disease: 246555 OMIM LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY
id in db is: 290946
inserted disease: 2118 ORPHA Hawkinsinuria
id in db is: 290947
inserted disease: 615206 OMIM #615206 CARD11 IMMUNODEFICIENCY
id in db is: 290948
inserted disease: 183400 OMIM SPLIT LOWER LIP
id in db is: 290949
inserted disease: 153480 OMIM #153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS;;BANNAYAN-ZONANA SYNDROME; BZS;;RILEY-SMITH SYNDROME;;RUVALCABA-MYHRE-SMITH SYNDROME; RMSS;;MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA;;MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA
id in db is: 290950
inserted disease: 190440 OMIM #190440 TRIGONOCEPHALY 1; TRIGNO1;;CRANIOSYNOSTOSIS, METOPIC
id in db is: 290951
inserted disease: 229800 OMIM FRUCTOSURIA, ESSENTIAL
id in db is: 290952
inserted disease: 600995 OMIM #600995 NEPHROTIC SYNDROME, TYPE 2; NPHS2;;NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1
id in db is: 290953
inserted disease: 261600 OMIM PHENYLKETONURIA; PKU
id in db is: 290954
inserted disease: 614261 OMIM #614261 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP
id in db is: 290955
inserted disease: 308700 OMIM HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1
id in db is: 290956
inserted disease: 175510 OMIM POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL
id in db is: 290957
inserted disease: 201810 OMIM #201810 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF;;3-@BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY;;3-@BETA-HSD DEFICIENCY; HSDB;;ADRENAL HYPERPLASIA II
id in db is: 290958
inserted disease: 175500 OMIM 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES;;CRONKHITE-CANADA SYNDROME
id in db is: 290959
inserted disease: 236792 OMIM #236792 L-2-HYDROXYGLUTARIC ACIDURIA;;L-2-HYDROXYGLUTARIC ACIDEMIA
id in db is: 290960
inserted disease: 3162 ORPHA Sézary syndrome
id in db is: 290961
inserted disease: 154276 OMIM MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3
id in db is: 290962
inserted disease: 133900 OMIM HEMIFACIAL HYPERPLASIA
id in db is: 290963
inserted disease: 180300 OMIM RHEUMATOID ARTHRITIS
id in db is: 290964
inserted disease: 613608 OMIM %613608 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3;;CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3; FCMTE3
id in db is: 290965
inserted disease: 1266 ORPHA Dermato-cardio-skeletal syndrome, Borrone type
id in db is: 290966
inserted disease: 153470 OMIM MACROCEPHALY, BENIGN FAMILIAL
id in db is: 290967
inserted disease: 2580 ORPHA Shoulder and girdle defects-familial intellectual disability syndrome
id in db is: 290968
inserted disease: 1879 ORPHA Melorheostosis with osteopoikilosis
id in db is: 290969
inserted disease: 85276 ORPHA X-linked intellectual disability, Armfield type
id in db is: 290970
inserted disease: 609016 OMIM #609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY;;LCHAD DEFICIENCY
id in db is: 290971
inserted disease: 616538 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9
id in db is: 290972
inserted disease: 225320 OMIM EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
id in db is: 290973
inserted disease: 131430 OMIM EOSINOPHILOPENIA
id in db is: 290974
inserted disease: 258501 OMIM #258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3;;MGA, TYPE III; MGA3;;OPTIC ATROPHY PLUS SYNDROME;;OPTIC ATROPHY, INFANTILE, WITH CHOREA AND SPASTIC PARAPLEGIA;;IRAQI-JEWISH 'OPTIC ATROPHY PLUS';;COSTEFF SYNDROME;;OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE;;OPA3, AUTOSOMAL RECESSIVE
id in db is: 290975
inserted disease: 193530 OMIM WEYERS ACROFACIAL DYSOSTOSIS
id in db is: 290976
inserted disease: 106900 OMIM ANONYCHIA-ECTRODACTYLY
id in db is: 290977
inserted disease: 224700 OMIM 224700 EBSTEIN ANOMALY
id in db is: 290978
inserted disease: 615527 OMIM #615527 CANDIDIASIS, FAMILIAL, 8; CANDF8;;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE
id in db is: 290979
inserted disease: 300200 OMIM ADRENAL HYPOPLASIA, CONGENITAL; AHC
id in db is: 290980
inserted disease: 600674 OMIM MICROTIA-ANOTIA
id in db is: 290981
inserted disease: 615386 OMIM #615386 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14;;CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1; SPARCA1
id in db is: 290982
inserted disease: 137210 OMIM 137210 GASTRIC VOLVULUS, INTRATHORACIC
id in db is: 290983
inserted disease: 2798 ORPHA Pachygyria-intellectual disability-epilepsy syndrome
id in db is: 290984
inserted disease: 118 ORPHA Beta-mannosidosis
id in db is: 290985
inserted disease: 2837 ORPHA Pellagra-like skin rash-neurological manifestations syndrome
id in db is: 290986
inserted disease: 612379 OMIM #612379 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ; CDG1Q;;COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINEABNORMALITIES;;CDG IQ; CDGIQ
id in db is: 290987
inserted disease: 614582 OMIM #614582 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9
id in db is: 290988
inserted disease: 259500 OMIM OSTEOGENIC SARCOMA
id in db is: 290989
inserted disease: 164220 OMIM %164220 SCHILBACH-ROTT SYNDROME;;OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS;;CLEFT PALATE, HYPOTELORISM, AND HYPOSPADIAS;;BLEPHAROFACIOSKELETAL SYNDROME; BRSS
id in db is: 290990
inserted disease: 1642 ORPHA Distal monosomy 9p
id in db is: 290991
inserted disease: 1951 ORPHA Epilepsy-telangiectasia syndrome
id in db is: 290992
inserted disease: 254100 OMIM MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION
id in db is: 290993
inserted disease: 300497 OMIM ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2
id in db is: 290994
inserted disease: 99 ORPHA Autosomal dominant cerebellar ataxia
id in db is: 290995
inserted disease: 1248 ORPHA Maxillonasal dysplasia
id in db is: 290996
inserted disease: 271225 OMIM SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES
id in db is: 290997
inserted disease: 85175 ORPHA Astley-Kendall dysplasia
id in db is: 290998
inserted disease: 616239 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24
id in db is: 290999
inserted disease: 614526 OMIM #614526 CHROMOSOME 17q12 DUPLICATION SYNDROME
id in db is: 291000
inserted disease: 616502 OMIM CONE-ROD DYSTROPHY 21; CORD21
id in db is: 291001
inserted disease: 610951 OMIM #610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
id in db is: 291002
inserted disease: 300258 OMIM %300258 ROIFMAN SYNDROME;;SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY
id in db is: 291003
inserted disease: 228308 ORPHA Carnitine palmitoyl transferase II deficiency, neonatal form
id in db is: 291004
inserted disease: 100650 OMIM +100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2;;ALDEHYDE DEHYDROGENASE 2;;ALDH, LIVER MITOCHONDRIAL;;ACETALDEHYDE DEHYDROGENASE 2SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO, INCLUDED;;ALDH2/HMGIC FUSION GENE, INCLUDED;;ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO, INCLUDED
id in db is: 291005
inserted disease: 263540 OMIM 263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES
id in db is: 291006
inserted disease: 50817 ORPHA Duane anomaly-myopathy-scoliosis syndrome
id in db is: 291007
inserted disease: 217990 OMIM %217990 CORPUS CALLOSUM, AGENESIS OF;;ACC
id in db is: 291008
inserted disease: 600351 OMIM ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY
id in db is: 291009
inserted disease: 2836 ORPHA PEHO syndrome
id in db is: 291010
inserted disease: 250700 OMIM 250700 METHEMOGLOBIN REDUCTASE DEFICIENCY;;NADPH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY;;TPNH-METHEMOGLOBIN REDUCTASE DEFICIENCY
id in db is: 291011
inserted disease: 157950 OMIM MOLAR I REINCLUSION
id in db is: 291012
inserted disease: 212720 OMIM #212720 MARTSOLF SYNDROME;;CATARACT-MENTAL RETARDATION-HYPOGONADISM
id in db is: 291013
inserted disease: 147430 OMIM INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT
id in db is: 291014
inserted disease: 614020 OMIM #614020 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14
id in db is: 291015
inserted disease: 6 ORPHA 3-methylcrotonyl-CoA carboxylase deficiency
id in db is: 291016
inserted disease: 904 ORPHA Williams syndrome
id in db is: 291017
inserted disease: 614377 OMIM #614377 NEPHRONOPHTHISIS 13; NPHP13
id in db is: 291018
inserted disease: 611962 OMIM %611962 HUNTER-MACDONALD SYNDROME
id in db is: 291019
inserted disease: 615352 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14
id in db is: 291020
inserted disease: 240800 OMIM #240800 HYPOGLYCEMIA, LEUCINE-INDUCED; LIH;;LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY
id in db is: 291021
inserted disease: 605820 OMIM NONAKA MYOPATHY
id in db is: 291022
inserted disease: 602249 OMIM PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
id in db is: 291023
inserted disease: 601776 OMIM #601776 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1; EDSMC1;;EDSMC;;ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME;;EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY;;ADDUCTED THUMB-CLUBFOOT SYNDROME; ATCS;;DUNDAR SYNDROME;;ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS
id in db is: 291024
inserted disease: 101800 OMIM #101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1;;ADOHR
id in db is: 291025
inserted disease: 607152 OMIM SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT
id in db is: 291026
inserted disease: 971 ORPHA Acrorenal syndrome
id in db is: 291027
inserted disease: 615537 OMIM #615537 RETICULATE ACROPIGMENTATION OF KITAMURA; RAK;;ACROPIGMENTATIO RETICULARIS;;RETICULATE PIGMENTATION OF KITAMURA; RPK;;KITAMURA RETICULATE ACROPIGMENTATION
id in db is: 291028
inserted disease: 125230 OMIM DEAFNESS-CRANIOFACIAL SYNDROME
id in db is: 291029
inserted disease: 608484 OMIM 608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA;;CORNEAL OPACITIES, CONGENITAL, WITH CORNEA GUTTATA AND CORECTOPIA
id in db is: 291030
inserted disease: 167 ORPHA Chédiak-Higashi syndrome
id in db is: 291031
inserted disease: 615270 OMIM HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20
id in db is: 291032
inserted disease: 174810 OMIM #174810 FAMILIAL EXPANSILE OSTEOLYSIS; FEO;;POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD;;MCCABE DISEASE;;EXPANSILE OSTEOLYSIS, FAMILIAL; EOF
id in db is: 291033
inserted disease: 1077 ORPHA Dental ankylosis
id in db is: 291034
inserted disease: 139411 ORPHA Carney triad
id in db is: 291035
inserted disease: 681 ORPHA Hypokalemic periodic paralysis
id in db is: 291036
inserted disease: 870 ORPHA Down syndrome
id in db is: 291037
inserted disease: 304150 OMIM #304150 OCCIPITAL HORN SYNDROME; OHS;;CUTIS LAXA, X-LINKED, FORMERLY;;EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY;;EDS IX, FORMERLY;;EDS9, FORMERLY
id in db is: 291038
inserted disease: 97297 ORPHA Bohring-Opitz syndrome
id in db is: 291039
inserted disease: 167300 OMIM PAGET DISEASE, EXTRAMAMMARY
id in db is: 291040
inserted disease: 300636 OMIM #300636 IMMUNODEFICIENCY 33; IMD33;;IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED;;ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1
id in db is: 291041
inserted disease: 111700 OMIM RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE
id in db is: 291042
inserted disease: 138770 OMIM 138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME
id in db is: 291043
inserted disease: 179450 OMIM RAGWEED SENSITIVITY
id in db is: 291044
inserted disease: 212112 OMIM #212112 CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM;;MALOUF SYNDROME;;CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM;;CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE;;CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE;;NAJJAR SYNDROME;;GENITAL ANOMALY WITH CARDIOMYOPATHY;;CARDIOGENITAL SYNDROME
id in db is: 291045
inserted disease: 605130 OMIM WIEDEMANN-STEINER SYNDROME; WDSTS
id in db is: 291046
inserted disease: 614205 OMIM #614205 THREE M SYNDROME 3; 3M3;;3@M SYNDROME 3
id in db is: 291047
inserted disease: 606408 OMIM #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY
id in db is: 291048
inserted disease: 616420 OMIM LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10
id in db is: 291049
inserted disease: 1538 ORPHA Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
id in db is: 291050
inserted disease: 230750 OMIM GASTROSCHISISABDOMINAL WALL DEFECTS, INCLUDED
id in db is: 291051
inserted disease: 613744 OMIM #613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY
id in db is: 291052
inserted disease: 166780 OMIM OTOFACIOCERVICAL SYNDROME
id in db is: 291053
inserted disease: 272200 OMIM #272200 MULTIPLE SULFATASE DEFICIENCY; MSD;;MUCOSULFATIDOSIS;;SULFATIDOSIS, JUVENILE, AUSTIN TYPE
id in db is: 291054
inserted disease: 245900 OMIM LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
id in db is: 291055
inserted disease: 607473 OMIM #607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2
id in db is: 291056
inserted disease: 136140 OMIM #136140 FLOATING-HARBOR SYNDROME; FLHS
id in db is: 291057
inserted disease: 922 ORPHA Familial nasal acilia
id in db is: 291058
inserted disease: 614837 OMIM HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8
id in db is: 291059
inserted disease: 221054 ORPHA Acrocephalopolydactyly
id in db is: 291060
inserted disease: 615031 OMIM #615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49
id in db is: 291061
inserted disease: 562 ORPHA McCune-Albright syndrome
id in db is: 291062
inserted disease: 300842 OMIM #300842 MCLEOD SYNDROME; MCLDS;;MCLEOD PHENOTYPE;;NEUROACANTHOCYTOSIS, MCLEOD TYPEMCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE, INCLUDED
id in db is: 291063
inserted disease: 2310 ORPHA Absence deformity of leg-cataract syndrome
id in db is: 291064
inserted disease: 169550 OMIM PELVIS-SHOULDER DYSPLASIA
id in db is: 291065
inserted disease: 262300 OMIM #262300 ACHROMATOPSIA 3; ACHM3;;PINGELAPESE BLINDNESS;;TOTAL COLORBLINDNESS WITH MYOPIA;;ACHROMATOPSIA WITH MYOPIA;;ACHM1, FORMERLY;;ROD MONOCHROMATISM 1, FORMERLY;;ROD MONOCHROMACY 1, FORMERLY; RMCH1, FORMERLY
id in db is: 291066
inserted disease: 607095 OMIM #607095 ANAUXETIC DYSPLASIA;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA, MENGER TYPE
id in db is: 291067
inserted disease: 101330 ORPHA Porphyria cutanea tarda
id in db is: 291068
inserted disease: 231900 OMIM GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIADUE TO
id in db is: 291069
inserted disease: 601455 OMIM #601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D;;NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE; HMSNL;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE4D;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4D;;HMSN4D
id in db is: 291070
inserted disease: 252250 OMIM MONOCYTE CHEMOTACTIC DISORDER
id in db is: 291071
inserted disease: 2990 ORPHA Autosomal recessive multiple pterygium syndrome
id in db is: 291072
inserted disease: 254960 OMIM MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT
id in db is: 291073
inserted disease: 253400 OMIM #253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3;;SMA III;;MUSCULAR ATROPHY, JUVENILE;;KUGELBERG-WELANDER SYNDROME; KWS;;SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM
id in db is: 291074
inserted disease: 261190 ORPHA 15q14 microdeletion syndrome
id in db is: 291075
inserted disease: 212890 OMIM CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA
id in db is: 291076
inserted disease: 262850 OMIM PLASMIN INHIBITOR DEFICIENCY
id in db is: 291077
inserted disease: 272440 OMIM #272440 FILIPPI SYNDROME; FLPIS;;SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION;;SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION
id in db is: 291078
inserted disease: 300718 OMIM #300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
id in db is: 291079
inserted disease: 109543 OMIM B-CELL MALIGNANCY, LOW-GRADE
id in db is: 291080
inserted disease: 237310 OMIM N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
id in db is: 291081
inserted disease: 613021 OMIM #613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2;;CYSTIC FIBROSIS-LIKE SYNDROME
id in db is: 291082
inserted disease: 79403 ORPHA Junctional epidermolysis bullosa-pyloric atresia syndrome
id in db is: 291083
inserted disease: 613102 OMIM #613102 HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
id in db is: 291084
inserted disease: 613826 OMIM #613826 LEBER CONGENITAL AMAUROSIS 6; LCA6
id in db is: 291085
inserted disease: 610805 OMIM %610805 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO;CAKUT;;RENAL HYPODYSPLASIA, NONSYNDROMIC, 1; RHDNS1
id in db is: 291086
inserted disease: 35701 ORPHA 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
id in db is: 291087
inserted disease: 95613 ORPHA Pituitary apoplexy
id in db is: 291088
inserted disease: 2067 ORPHA GAPO syndrome
id in db is: 291089
inserted disease: 119915 OMIM CLUSTER HEADACHE, FAMILIAL
id in db is: 291090
inserted disease: 300018 OMIM DOSAGE-SENSITIVE SEX REVERSAL
id in db is: 291091
inserted disease: 93357 ORPHA SPONASTRIME dysplasia
id in db is: 291092
inserted disease: 608647 OMIM #608647 CILIARY DYSKINESIA, PRIMARY, 5; CILD5;;CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS
id in db is: 291093
inserted disease: 616281 OMIM #616281 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49
id in db is: 291094
inserted disease: 137634 ORPHA Overgrowth-macrocephaly-facial dysmorphism syndrome
id in db is: 291095
inserted disease: 90796 ORPHA 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
id in db is: 291096
inserted disease: 208080 OMIM 208080 ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES
id in db is: 291097
inserted disease: 1762 ORPHA Trisomy Xq28
id in db is: 291098
inserted disease: 1933 ORPHA Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
id in db is: 291099
inserted disease: 194300 OMIM WOOLLY HAIR, AUTOSOMAL DOMINANT; ADWH
id in db is: 291100
inserted disease: 309950 OMIM MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE
id in db is: 291101
inserted disease: 614113 OMIM #614113 MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2
id in db is: 291102
inserted disease: 302600 OMIM SPINOCEREBELLAR ATAXIA, X-LINKED 2
id in db is: 291103
inserted disease: 609541 OMIM SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY
id in db is: 291104
inserted disease: 614662 OMIM #614662 CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2
id in db is: 291105
inserted disease: 611816 OMIM TEMPLE-BARAITSER SYNDROME; TMBTS
id in db is: 291106
inserted disease: 177900 OMIM #177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
id in db is: 291107
inserted disease: 243500 OMIM #243500 ISOVALERIC ACIDEMIA; IVA;;ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY;;IVD DEFICIENCY
id in db is: 291108
inserted disease: 93476 ORPHA Hurler-Scheie syndrome
id in db is: 291109
inserted disease: 145420 OMIM %145420 HYPERTELORISM, TEEBI TYPE;;BRACHYCEPHALOFRONTONASAL DYSPLASIA
id in db is: 291110
inserted disease: 186100 OMIM SYNDACTYLY, TYPE III
id in db is: 291111
inserted disease: 606889 OMIM ALZHEIMER DISEASE 4
id in db is: 291112
inserted disease: 604213 OMIM #604213 CHUDLEY-MCCULLOUGH SYNDROME; CMCS;;DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUMAND ARACHNOID CYSTS;;DEAFNESS, AUTOSOMAL RECESSIVE 82; DFNB82
id in db is: 291113
inserted disease: 85 DECIPHER 8p23.1 duplication syndrome
id in db is: 291114
inserted disease: 300923 OMIM MENTAL RETARDATION, X-LINKED 100; MRX100
id in db is: 291115
inserted disease: 104500 OMIM AMELOGENESIS IMPERFECTA, TYPE IB
id in db is: 291116
inserted disease: 107200 OMIM ANOSMIA, CONGENITAL
id in db is: 291117
inserted disease: 277150 OMIM VAN BOGAERT-HOZAY SYNDROME
id in db is: 291118
inserted disease: 77298 ORPHA Anophthalmia/microphthalmia-esophageal atresia syndrome
id in db is: 291119
inserted disease: 314200 OMIM THYROXINE-BINDING GLOBULIN OF SERUM
id in db is: 291120
inserted disease: 609634 OMIM MIGRAINE, FAMILIAL HEMIPLEGIC, 3
id in db is: 291121
inserted disease: 210710 OMIM MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
id in db is: 291122
inserted disease: 83453 ORPHA Vulvovaginal gingival syndrome
id in db is: 291123
inserted disease: 181000 OMIM SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1
id in db is: 291124
inserted disease: 616684 OMIM #616684 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE4K;;CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE,TYPE 4K
id in db is: 291125
inserted disease: 612219 OMIM #612219 EWING SARCOMA; ESNEUROEPITHELIOMA, PERIPHERAL, INCLUDED; PNE, INCLUDED;;ASKIN TUMOR, INCLUDED
id in db is: 291126
inserted disease: 199 ORPHA Cornelia de Lange syndrome
id in db is: 291127
inserted disease: 614434 OMIM #614434 CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2
id in db is: 291128
inserted disease: 2717 ORPHA Oculotrichoanal syndrome
id in db is: 291129
inserted disease: 284160 ORPHA 8q21.11 microdeletion syndrome
id in db is: 291130
inserted disease: 168860 OMIM PATELLA APLASIA-HYPOPLASIA
id in db is: 291131
inserted disease: 612908 OMIM #612908 KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2;;KERATODERMA, PALMOPLANTAR, STRIATE FORM II; KPPS2;;STRIATE PALMOPLANTAR KERATODERMA II; SPPK2
id in db is: 291132
inserted disease: 160120 OMIM #160120 EPISODIC ATAXIA, TYPE 1; EA1;;EPISODIC ATAXIA WITH MYOKYMIA; EAM;;ATAXIA, EPISODIC, WITH MYOKYMIA; AEM; AEMK;;PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY;;MYOKYMIA WITH PERIODIC ATAXIAMYOKYMIA 1, INCLUDED;;CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED;;ISAACS-MERTENS SYNDROME, INCLUDED;;MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED
id in db is: 291133
inserted disease: 146110 OMIM HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
id in db is: 291134
inserted disease: 180860 OMIM #180860 SILVER-RUSSELL SYNDROME; SRS;;RUSSELL-SILVER SYNDROME; RSS;;SILVER-RUSSELL DWARFISM
id in db is: 291135
inserted disease: 602629 OMIM #602629 DYSTONIA 6, TORSION; DYT6;;TORSION DYSTONIA, ADULT-ONSET, MIXED TYPE
id in db is: 291136
inserted disease: 614229 OMIM #614229 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11; SCAR11
id in db is: 291137
inserted disease: 106050 OMIM ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT
id in db is: 291138
inserted disease: 49804 ORPHA Lichen amyloidosis
id in db is: 291139
inserted disease: 162370 OMIM NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
id in db is: 291140
inserted disease: 1399 ORPHA Richards-Rundle syndrome
id in db is: 291141
inserted disease: 176305 OMIM PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
id in db is: 291142
inserted disease: 189500 OMIM WITKOP SYNDROME
id in db is: 291143
inserted disease: 609313 OMIM #609313 MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY,ICHTHYOSIS, AND KERATODERMA; MEDNIK;;ERYTHROKERATODERMIA VARIABILIS 3; EKV3;;ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE
id in db is: 291144
inserted disease: 615905 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25
id in db is: 291145
inserted disease: 615673 OMIM MYOPATHY WITH EXTRAPYRAMIDAL SIGNS; MPXPS
id in db is: 291146
inserted disease: 159580 OMIM MYELOPATHY, HTLV-1-ASSOCIATED
id in db is: 291147
inserted disease: 70 ORPHA Proximal spinal muscular atrophy
id in db is: 291148
inserted disease: 733 ORPHA Familial adenomatous polyposis
id in db is: 291149
inserted disease: 238700 OMIM HYPERLYSINEMIA, TYPE I
id in db is: 291150
inserted disease: 612997 OMIM #612997 SPERMATOGENIC FAILURE 7; SPGF7;;MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE; MIAR
id in db is: 291151
inserted disease: 609886 OMIM #609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
id in db is: 291152
inserted disease: 607636 OMIM VAN BUCHEM DISEASE, TYPE 2
id in db is: 291153
inserted disease: 117800 OMIM EAR WAX, WET/DRY
id in db is: 291154
inserted disease: 609220 OMIM BRUCK SYNDROME 2
id in db is: 291155
inserted disease: 208540 OMIM #208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD
id in db is: 291156
inserted disease: 615294 OMIM CILIARY DYSKINESIA, PRIMARY, 21; CILD21
id in db is: 291157
inserted disease: 2238 ORPHA Familial isolated hypoparathyroidism
id in db is: 291158
inserted disease: 614813 OMIM #614813 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS;SOFT;;SOFT SYNDROME
id in db is: 291159
inserted disease: 265000 OMIM #265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS;;ESCOBAR SYNDROME;;MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE;;PTERYGIUM SYNDROME;;MULTIPLE PTERYGIUM SYNDROME;;PTERYGIUM COLLI SYNDROME;;PTERYGIUM UNIVERSALE
id in db is: 291160
inserted disease: 601386 OMIM #601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
id in db is: 291161
inserted disease: 185070 OMIM #185070 STORMORKEN SYNDROME; STRMK;;THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
id in db is: 291162
inserted disease: 608615 OMIM #608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS;;TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
id in db is: 291163
inserted disease: 465508 ORPHA Symptomatic form of hemochromatosis type 1
id in db is: 291164
inserted disease: 157991 ORPHA Generalized eruptive histiocytosis
id in db is: 291165
inserted disease: 231070 OMIM GERODERMA OSTEODYSPLASTICA
id in db is: 291166
inserted disease: 252700 OMIM #252700 MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES
id in db is: 291167
inserted disease: 603830 OMIM LONG QT SYNDROME 3; LQT3
id in db is: 291168
inserted disease: 127820 OMIM 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS;;OSTEOCHONDROMATOSIS, DOMINANT CARPOTARSAL
id in db is: 291169
inserted disease: 140000 OMIM HAND-FOOT-GENITAL SYNDROME; HFG
id in db is: 291170
inserted disease: 613706 OMIM #613706 NOONAN SYNDROME 7; NS7
id in db is: 291171
inserted disease: 614701 OMIM #614701 CORNELIA DE LANGE SYNDROME 4; CDLS4
id in db is: 291172
inserted disease: 399 ORPHA Huntington disease
id in db is: 291173
inserted disease: 604400 OMIM ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
id in db is: 291174
inserted disease: 300919 OMIM MENTAL RETARDATION, X-LINKED 99; MRX99
id in db is: 291175
inserted disease: 613810 OMIM #613810 RETINITIS PIGMENTOSA 43; RP43
id in db is: 291176
inserted disease: 113200 OMIM BRACHYDACTYLY, TYPE D
id in db is: 291177
inserted disease: 615284 OMIM #615284 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3; CMT4B3
id in db is: 291178
inserted disease: 256200 OMIM NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS
id in db is: 291179
inserted disease: 238578 ORPHA Familial clubfoot due to 17q23.1q23.2 microduplication
id in db is: 291180
inserted disease: 2518 ORPHA Autosomal recessive chorioretinopathy-microcephaly syndrome
id in db is: 291181
inserted disease: 1447 ORPHA Ring chromosome 4
id in db is: 291182
inserted disease: 612247 OMIM CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN
id in db is: 291183
inserted disease: 231249 ORPHA Hemoglobin E-beta-thalassemia syndrome
id in db is: 291184
inserted disease: 1590 ORPHA Distal monosomy 13q
id in db is: 291185
inserted disease: 166272 ORPHA Odontochondrodysplasia
id in db is: 291186
inserted disease: 293948 ORPHA 1p21.3 microdeletion syndrome
id in db is: 291187
inserted disease: 97341 ORPHA Persistent placoid maculopathy
id in db is: 291188
inserted disease: 135300 OMIM FIBROMATOSIS, GINGIVAL, 1
id in db is: 291189
inserted disease: 130020 OMIM #130020 EHLERS-DANLOS SYNDROME, TYPE III;;EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE;;EDS III;;EDS3;;BENIGN HYPERMOBILITY SYNDROME
id in db is: 291190
inserted disease: 177400 OMIM BUTYRYLCHOLINESTERASE
id in db is: 291191
inserted disease: 210750 OMIM SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6
id in db is: 291192
inserted disease: 3452 ORPHA Whipple disease
id in db is: 291193
inserted disease: 2204 ORPHA Dysplastic cortical hyperostosis
id in db is: 291194
inserted disease: 603720 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
id in db is: 291195
inserted disease: 614203 OMIM #614203 PARKINSON DISEASE 17; PARK17
id in db is: 291196
inserted disease: 614891 OMIM IMMUNODEFICIENCY 30; IMD30
id in db is: 291197
inserted disease: 602875 OMIM #602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDMST. HELENA DYSPLASIA, INCLUDED
id in db is: 291198
inserted disease: 242870 OMIM IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTSAND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES
id in db is: 291199
inserted disease: 307300 OMIM HYPOGONADISM, MALE
id in db is: 291200
inserted disease: 131950 OMIM EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
id in db is: 291201
inserted disease: 737 ORPHA Porokeratosis plantaris palmaris et disseminata
id in db is: 291202
inserted disease: 606763 OMIM #606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2;;CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS
id in db is: 291203
inserted disease: 168100 OMIM PARALYSIS AGITANS, JUVENILE, OF HUNT
id in db is: 291204
inserted disease: 1795 ORPHA Peripheral dysostosis
id in db is: 291205
inserted disease: 1167 ORPHA Facial asymmetry-temporal seizures syndrome
id in db is: 291206
inserted disease: 143 ORPHA Parathyroid carcinoma
id in db is: 291207
inserted disease: 609152 OMIM #609152 HYPERTHYROIDISM, NONAUTOIMMUNE;;HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE;;HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT;;TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT
id in db is: 291208
inserted disease: 93109 ORPHA Congenital megacalycosis
id in db is: 291209
inserted disease: 614249 OMIM #614249 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18
id in db is: 291210
inserted disease: 615244 OMIM NEPHROTIC SYNDROME, TYPE 8; NPHS8
id in db is: 291211
inserted disease: 210600 OMIM SECKEL SYNDROME 1; SCKL1
id in db is: 291212
inserted disease: 609008 OMIM MARFANOID HABITUS WITH SITUS INVERSUS
id in db is: 291213
inserted disease: 175050 OMIM #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION
id in db is: 291214
inserted disease: 613398 OMIM #613398 WARSAW BREAKAGE SYNDROME; WABS
id in db is: 291215
inserted disease: 613960 OMIM #613960 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE III;;CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III;;GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY
id in db is: 291216
inserted disease: 612528 OMIM #612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5
id in db is: 291217
inserted disease: 147 ORPHA Carbamoyl-phosphate synthetase 1 deficiency
id in db is: 291218
inserted disease: 214290 OMIM CERVICAL VERTEBRAE, AGENESIS OF
id in db is: 291219
inserted disease: 602554 OMIM TORSION DYSTONIA WITH ONSET IN INFANCY
id in db is: 291220
inserted disease: 120040 OMIM COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS
id in db is: 291221
inserted disease: 91138 ORPHA Cryoglobulinemic vasculitis
id in db is: 291222
inserted disease: 600231 OMIM PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
id in db is: 291223
inserted disease: 109 ORPHA Bannayan-Riley-Ruvalcaba syndrome
id in db is: 291224
inserted disease: 125320 OMIM DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES
id in db is: 291225
inserted disease: 151623 OMIM #151623 LI-FRAUMENI SYNDROME 1; LFS1;;SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI;;SBLA SYNDROMELI-FRAUMENI-LIKE SYNDROME, INCLUDED; LFL, INCLUDED
id in db is: 291226
inserted disease: 93314 ORPHA Spondylometaphyseal dysplasia, Kozlowski type
id in db is: 291227
inserted disease: 280356 ORPHA PLIN1-related familial partial lipodystrophy
id in db is: 291228
inserted disease: 115700 OMIM CATARACT, CRYSTALLINE ACULEIFORM
id in db is: 291229
inserted disease: 276200 OMIM T-SUBSTANCE ANOMALY
id in db is: 291230
inserted disease: 614399 OMIM #614399 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET;EMARDDMYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET,MILD VARIANT, INCLUDED
id in db is: 291231
inserted disease: 614857 OMIM #614857 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ
id in db is: 291232
inserted disease: 232700 OMIM #232700 GLYCOGEN STORAGE DISEASE VI;;GSD VI; GSD6;;HERS DISEASE;;PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER
id in db is: 291233
inserted disease: 258700 OMIM OPTICOCOCHLEODENTATE DEGENERATION
id in db is: 291234
inserted disease: 614066 OMIM #614066 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 5, FORMERLY; CPSQ5, FORMERLY
id in db is: 291235
inserted disease: 614524 OMIM #614524 FIBROCHONDROGENESIS 2; FBCG2
id in db is: 291236
inserted disease: 270350 OMIM SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL
id in db is: 291237
inserted disease: 121820 OMIM CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
id in db is: 291238
inserted disease: 300852 OMIM #300852 MENTAL RETARDATION, X-LINKED 88; MRX88
id in db is: 291239
inserted disease: 79322 ORPHA DPM1-CDG
id in db is: 291240
inserted disease: 248760 OMIM 248760 MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS
id in db is: 291241
inserted disease: 603903 OMIM #603903 SICKLE CELL ANEMIA
id in db is: 291242
inserted disease: 601559 OMIM STUVE-WIEDEMANN SYNDROME
id in db is: 291243
inserted disease: 161530 OMIM NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE
id in db is: 291244
inserted disease: 184252 OMIM #184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK;;SMD, KOZLOWSKI TYPE
id in db is: 291245
inserted disease: 275630 OMIM CHANARIN-DORFMAN SYNDROME
id in db is: 291246
inserted disease: 615415 OMIM #615415 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2
id in db is: 291247
inserted disease: 1276 ORPHA Brachydactyly-arterial hypertension syndrome
id in db is: 291248
inserted disease: 53 DECIPHER Prader-Willi Syndrome (Type 2)
id in db is: 291249
inserted disease: 1979 ORPHA Lipodystrophy due to peptidic growth factors deficiency
id in db is: 291250
inserted disease: 314811 ORPHA Short stature due to GHSR deficiency
id in db is: 291251
inserted disease: 201450 OMIM #201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD;;ACADM DEFICIENCY;;MCAD DEFICIENCY;;MCADH DEFICIENCY;;CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY
id in db is: 291252
inserted disease: 35069 ORPHA Infantile neuroaxonal dystrophy
id in db is: 291253
inserted disease: 259775 OMIM RAINE SYNDROME; RNS
id in db is: 291254
inserted disease: 1652 ORPHA Dent disease
id in db is: 291255
inserted disease: 236130 OMIM HOMOCARNOSINOSIS
id in db is: 291256
inserted disease: 608404 OMIM #608404 PLATELET GLYCOPROTEIN IV DEFICIENCY;;BLEEDING DISORDER, PLATELET-TYPE, 10; BDPLT10;;CD36 DEFICIENCY
id in db is: 291257
inserted disease: 615846 OMIM AICARDI-GOUTIERES SYNDROME 7; AGS7
id in db is: 291258
inserted disease: 616395 OMIM #616395 TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 ;;TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A; TTDA
id in db is: 291259
inserted disease: 221300 OMIM DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR
id in db is: 291260
inserted disease: 224120 OMIM #224120 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A;;DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia;;CDA Ia;;ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
id in db is: 291261
inserted disease: 3104 ORPHA Robin sequence-oligodactyly syndrome
id in db is: 291262
inserted disease: 162100 OMIM #162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA;;NEURITIS WITH BRACHIAL PREDILECTION; NAPB;;BRACHIAL PLEXUS NEUROPATHY, HEREDITARY;;AMYOTROPHY, HEREDITARY NEURALGIC, WITH PREDILECTION FOR BRACHIAL PLEXUS
id in db is: 291263
inserted disease: 614851 OMIM #614851 SECKEL SYNDROME 7; SCKL7
id in db is: 291264
inserted disease: 613856 OMIM #613856 ACHROMATOPSIA 4; ACHM4
id in db is: 291265
inserted disease: 243400 OMIM ACETYLATION, SLOW
id in db is: 291266
inserted disease: 610682 OMIM #610682 OSTEOGENESIS IMPERFECTA, TYPE VII; OI7;;OI, TYPE VII;;OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY; OI2B, FORMERLY
id in db is: 291267
inserted disease: 164750 OMIM #164750 OMPHALOCELE, AUTOSOMAL;;CHROMOSOME 1p31 DUPLICATION SYNDROME
id in db is: 291268
inserted disease: 159900 OMIM MYOCLONIC DYSTONIA
id in db is: 291269
inserted disease: 609583 OMIM JOUBERT SYNDROME 4; JBTS4
id in db is: 291270
inserted disease: 601095 OMIM 601095 HARROD SYNDROME
id in db is: 291271
inserted disease: 268250 OMIM RHIZOMELIC SYNDROME
id in db is: 291272
inserted disease: 601220 OMIM 601220 OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH
id in db is: 291273
inserted disease: 205 ORPHA Crigler-Najjar syndrome
id in db is: 291274
inserted disease: 151590 OMIM LICHEN SCLEROSUS ET ATROPHICUS
id in db is: 291275
inserted disease: 3390 ORPHA Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
id in db is: 291276
inserted disease: 601449 OMIM DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION
id in db is: 291277
inserted disease: 614845 OMIM #614845 NEPHRONOPHTHISIS 15; NPHP15
id in db is: 291278
inserted disease: 207300 OMIM ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO
id in db is: 291279
inserted disease: 314473 ORPHA Ovarian fibroma
id in db is: 291280
inserted disease: 609616 OMIM SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS
id in db is: 291281
inserted disease: 610245 OMIM #610245 SPINOCEREBELLAR ATAXIA 23; SCA23
id in db is: 291282
inserted disease: 137800 OMIM #137800 GLIOMA SUSCEPTIBILITY 1; GLM1GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;;GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;;ASTROCYTOMA, INCLUDED;;OLIGODENDROGLIOMA, INCLUDED;;EPENDYMOMA, INCLUDED;;SUBEPENDYMOMA, INCLUDED
id in db is: 291283
inserted disease: 79431 ORPHA Oculocutaneous albinism type 1A
id in db is: 291284
inserted disease: 301410 OMIM 301410 NEURAL TUBE DEFECTS, X-LINKEDSPINA BIFIDA, X-LINKED, INCLUDED
id in db is: 291285
inserted disease: 1699 ORPHA Trisomy 12p
id in db is: 291286
inserted disease: 238606 ORPHA Primary orthostatic tremor
id in db is: 291287
inserted disease: 265500 OMIM PULMONIC STENOSIS
id in db is: 291288
inserted disease: 602096 OMIM ALZHEIMER DISEASE 5
id in db is: 291289
inserted disease: 186850 OMIM TARSAL FUSION
id in db is: 291290
inserted disease: 162210 OMIM #162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL;;FSNF
id in db is: 291291
inserted disease: 601553 OMIM #601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD;;HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY
id in db is: 291292
inserted disease: 65 ORPHA Leber congenital amaurosis
id in db is: 291293
inserted disease: 908 ORPHA Fragile X syndrome
id in db is: 291294
inserted disease: 179613 OMIM #179613 RECOMBINANT CHROMOSOME 8 SYNDROME;;REC8 SYNDROME;;CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION;;SAN LUIS VALLEY SYNDROME
id in db is: 291295
inserted disease: 314 ORPHA Erythroderma desquamativum
id in db is: 291296
inserted disease: 272300 OMIM SULFOCYSTEINURIA
id in db is: 291297
inserted disease: 606690 OMIM LYMPHANGIOLEIOMYOMATOSIS
id in db is: 291298
inserted disease: 219200 OMIM #219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A;;ARCL2;;CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION;;CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY;;CUTIS LAXA, DEBRE TYPE;;CUTIS LAXA WITH BONE DYSTROPHY;;CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT
id in db is: 291299
inserted disease: 608799 OMIM #608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E;;CDG Ie; CDGIe
id in db is: 291300
inserted disease: 234250 OMIM 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME
id in db is: 291301
inserted disease: 144600 OMIM HYPERLIPOPROTEINEMIA, TYPE IV
id in db is: 291302
inserted disease: 600906 OMIM ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY
id in db is: 291303
inserted disease: 2879 ORPHA Phocomelia, Schinzel type
id in db is: 291304
inserted disease: 114030 OMIM 114030 CAFE-AU-LAIT SPOTS, MULTIPLE
id in db is: 291305
inserted disease: 946 ORPHA Acrocephalosyndactyly
id in db is: 291306
inserted disease: 614576 OMIM #614576 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L;;CDG IIl; CDGIIl
id in db is: 291307
inserted disease: 608908 OMIM #608908 MYOPIA 6; MYP6
id in db is: 291308
inserted disease: 139444 ORPHA Leukoencephalopathy with bilateral anterior temporal lobe cysts
id in db is: 291309
inserted disease: 1799 ORPHA Familial developmental dysphasia
id in db is: 291310
inserted disease: 209 ORPHA Cutis laxa
id in db is: 291311
inserted disease: 610688 OMIM JOUBERT SYNDROME 6; JBTS6
id in db is: 291312
inserted disease: 63440 ORPHA Isolated oxycephaly
id in db is: 291313
inserted disease: 608594 OMIM LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
id in db is: 291314
inserted disease: 616279 OMIM #616279 CATARACT 43; CTRCT43
id in db is: 291315
inserted disease: 166700 OMIM BUSCHKE-OLLENDORFF SYNDROME
id in db is: 291316
inserted disease: 612109 OMIM #612109 OCULOAURICULAR SYNDROME; OCACS;;MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT,OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONEDYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR;;SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME
id in db is: 291317
inserted disease: 226730 OMIM #226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA;;EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA;;JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA;;JEB-PA;;EPIDERMYLOSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIACUTIS CONGENITA;;EB-PA-ACC;;CARMI SYNDROME;;APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
id in db is: 291318
inserted disease: 602111 OMIM #602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE;;SEMD, MISSOURI TYPEMETAPHYSEAL ANADYSPLASIA 1, INCLUDED; MANDP1, INCLUDED
id in db is: 291319
inserted disease: 415000 OMIM SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
id in db is: 291320
inserted disease: 300100 OMIM #300100 ADRENOLEUKODYSTROPHY; ALD;;ADDISON DISEASE AND CEREBRAL SCLEROSIS;;ADRENOMYELONEUROPATHY; AMN;;SIEMERLING-CREUTZFELDT DISEASE;;BRONZE SCHILDER DISEASE;;MELANODERMIC LEUKODYSTROPHY
id in db is: 291321
inserted disease: 319195 ORPHA Chondroectodermal dysplasia with night blindness
id in db is: 291322
inserted disease: 612843 OMIM %612843 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD
id in db is: 291323
inserted disease: 615106 OMIM #615106 COWDEN SYNDROME 3; CWS3
id in db is: 291324
inserted disease: 258850 OMIM OROFACIODIGITAL SYNDROME III
id in db is: 291325
inserted disease: 184200 OMIM SPONDYLOLISTHESIS
id in db is: 291326
inserted disease: 254800 OMIM MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
id in db is: 291327
inserted disease: 243080 OMIM INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO
id in db is: 291328
inserted disease: 148500 OMIM #148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC;;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
id in db is: 291329
inserted disease: 166740 OMIM OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES
id in db is: 291330
inserted disease: 309480 OMIM MENTAL RETARDATION ASSOCIATED WITH PSORIASIS
id in db is: 291331
inserted disease: 150280 OMIM LARYNGOMALACIA
id in db is: 291332
inserted disease: 209800 OMIM AUSTRALIA ANTIGEN
id in db is: 291333
inserted disease: 218 ORPHA Darier disease
id in db is: 291334
inserted disease: 280779 ORPHA Cutaneous collagenous vasculopathy
id in db is: 291335
inserted disease: 208500 OMIM %208500 SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY; SRTD1;;ASPHYXIATING THORACIC DYSTROPHY 1; ATD1;;JEUNE SYNDROME;;THORACIC-PELVIC-PHALANGEAL DYSTROPHY
id in db is: 291336
inserted disease: 611252 OMIM %611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32
id in db is: 291337
inserted disease: 191150 OMIM TUFTSIN DEFICIENCY
id in db is: 291338
inserted disease: 601868 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13
id in db is: 291339
inserted disease: 259420 OMIM #259420 OSTEOGENESIS IMPERFECTA, TYPE III;;OI, TYPE III;;OI3;;OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE
id in db is: 291340
inserted disease: 99329 ORPHA 48,XYYY syndrome
id in db is: 291341
inserted disease: 236600 OMIM #236600 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1;;HYDROCEPHALY;;VENTRICULOMEGALY
id in db is: 291342
inserted disease: 614381 OMIM LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
id in db is: 291343
inserted disease: 608328 OMIM WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT
id in db is: 291344
inserted disease: 616410 OMIM SPINOCEREBELLAR ATAXIA 41; SCA41
id in db is: 291345
inserted disease: 236750 OMIM HYDROPS FETALIS, IDIOPATHIC
id in db is: 291346
inserted disease: 775 ORPHA X-linked intellectual disability, Martinez type
id in db is: 291347
inserted disease: 270460 OMIM SONODA SYNDROME
id in db is: 291348
inserted disease: 607626 OMIM #607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS;;ILVASC;;ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME;;NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME;;NISCH SYNDROME
id in db is: 291349
inserted disease: 612562 OMIM #612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7
id in db is: 291350
inserted disease: 300421 OMIM X-LINKED INTELLECTUAL DISABILITY, WITTWER TYPE
id in db is: 291351
inserted disease: 602588 OMIM #602588 BRANCHIOOTIC SYNDROME 1; BOS1;;BO SYNDROME 1;;BRANCHIOOTIC DYSPLASIAANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT, INCLUDED
id in db is: 291352
inserted disease: 300604 OMIM #300604 PREMATURE OVARIAN FAILURE 2B; POF2B
id in db is: 291353
inserted disease: 603909 OMIM AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
id in db is: 291354
inserted disease: 601547 OMIM #601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2;;CATARACT, CONGENITAL, 'BLUE DOT' TYPE, 2
id in db is: 291355
inserted disease: 615272 OMIM #615272 FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ
id in db is: 291356
inserted disease: 2024 ORPHA Hereditary gingival fibromatosis
id in db is: 291357
inserted disease: 613065 OMIM %613065 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALLLEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 1, INCLUDED;;ALL1, INCLUDED;;LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 1, INCLUDED;;LEUKEMIA, B-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED;;LEUKEMIA, T-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED;;LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO,INCLUDED
id in db is: 291358
inserted disease: 308280 OMIM IMPACTED TEETH, MULTIPLE
id in db is: 291359
inserted disease: 251076 ORPHA 8p23.1 duplication syndrome
id in db is: 291360
inserted disease: 304700 OMIM #304700 MOHR-TRANEBJAERG SYNDROME; MTS;;DYSTONIA-DEAFNESS SYNDROME; DDS;;DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME; DDP;;DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES,AND MENTAL DEFICIENCY
id in db is: 291361
inserted disease: 203330 OMIM PSEUDOHYPOPARATHYROIDISM, TYPE II
id in db is: 291362
inserted disease: 605407 OMIM #605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE;;PARKINSONISM, INFANTILE, AUTOSOMAL RECESSIVE;;DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL RECESSIVE;;DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL RECESSIVE;;TYROSINE HYDROXYLASE DEFICIENCY
id in db is: 291363
inserted disease: 188100 OMIM THUMB DEFORMITY
id in db is: 291364
inserted disease: 600060 OMIM DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2
id in db is: 291365
inserted disease: 604308 OMIM #604308 MASS SYNDROME;;MASS PHENOTYPE;;OVERLAP CONNECTIVE TISSUE DISEASE; OCTD
id in db is: 291366
inserted disease: 186575 OMIM SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM
id in db is: 291367
inserted disease: 1267 ORPHA Botulism
id in db is: 291368
inserted disease: 871 ORPHA Familial progressive cardiac conduction defect
id in db is: 291369
inserted disease: 600598 OMIM SETTING-SUN PHENOMENON, FAMILIAL BENIGN
id in db is: 291370
inserted disease: 261640 OMIM HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A
id in db is: 291371
inserted disease: 120000 OMIM COARCTATION OF AORTA
id in db is: 291372
inserted disease: 3456 ORPHA Wildervanck syndrome
id in db is: 291373
inserted disease: 146000 OMIM #146000 HYPOCHONDROPLASIA; HCH
id in db is: 291374
inserted disease: 300886 OMIM #300886 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32
id in db is: 291375
inserted disease: 614231 OMIM #614231 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS
id in db is: 291376
inserted disease: 3189 ORPHA Congenital pulmonary valve stenosis
id in db is: 291377
inserted disease: 173580 OMIM PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED
id in db is: 291378
inserted disease: 615559 OMIM #615559 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3;;IMMUNODEFICIENCY, COMMON VARIABLE, 9, FORMERLY; CVID9, FORMERLY
id in db is: 291379
inserted disease: 613758 OMIM #613758 RETINITIS PIGMENTOSA 47; RP47
id in db is: 291380
inserted disease: 131800 OMIM EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE
id in db is: 291381
inserted disease: 127350 OMIM 127350 DYSCHONDROSTEOSIS AND NEPHRITIS
id in db is: 291382
inserted disease: 274800 OMIM THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4
id in db is: 291383
inserted disease: 614564 OMIM #614564 CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL; FCTCS;;TELANGIECTASIA, CUTANEOUS, AND CANCER SYNDROME, FAMILIAL
id in db is: 291384
inserted disease: 137950 OMIM %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL
id in db is: 291385
inserted disease: 272450 OMIM SYNDESMODYSPLASIC DWARFISM
id in db is: 291386
inserted disease: 70592 ORPHA Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
id in db is: 291387
inserted disease: 2309 ORPHA Pachyonychia congenita
id in db is: 291388
inserted disease: 614072 OMIM #614072 HERMANSKY-PUDLAK SYNDROME 3; HPS3
id in db is: 291389
inserted disease: 614897 OMIM #614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16
id in db is: 291390
inserted disease: 613862 OMIM #613862 RETINITIS PIGMENTOSA 38; RP38;;ROD-CONE DYSTROPHY, CHILDHOOD-ONSET
id in db is: 291391
inserted disease: 99886 ORPHA Transient neonatal diabetes mellitus
id in db is: 291392
inserted disease: 612201 OMIM ATRIAL FIBRILLATION, FAMILIAL, 6
id in db is: 291393
inserted disease: 3465 ORPHA Worster-Drought syndrome
id in db is: 291394
inserted disease: 2033 ORPHA Multifocal muscular fibrosis-obstructed vessels syndrome
id in db is: 291395
inserted disease: 105830 OMIM #105830 ANGELMAN SYNDROME; AS;;HAPPY PUPPET SYNDROME, FORMERLYANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED; ANCR, INCLUDED
id in db is: 291396
inserted disease: 606155 OMIM 606155 FRYNS-AFTIMOS SYNDROME;;PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES;;CEREBROOCULOFACIAL LYMPHATIC SYNDROME;;COFL SYNDROME;;MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES
id in db is: 291397
inserted disease: 128500 OMIM EAR FOLDING
id in db is: 291398
inserted disease: 263000 OMIM INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP
id in db is: 291399
inserted disease: 1827 ORPHA Acromelic frontonasal dysplasia
id in db is: 291400
inserted disease: 300290 OMIM ^300290 MOVED TO 614732
id in db is: 291401
inserted disease: 218670 OMIM CRANIOTELENCEPHALIC DYSPLASIA
id in db is: 291402
inserted disease: 241090 OMIM HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA
id in db is: 291403
inserted disease: 2300 ORPHA Multiple intestinal atresia
id in db is: 291404
inserted disease: 86788 ORPHA X-linked severe congenital neutropenia
id in db is: 291405
inserted disease: 616233 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T
id in db is: 291406
inserted disease: 613077 OMIM PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5
id in db is: 291407
inserted disease: 1438 ORPHA Ring chromosome 10
id in db is: 291408
inserted disease: 304120 OMIM #304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2;;OPD II SYNDROME;;OPD SYNDROME 2;;CRANIOORODIGITAL SYNDROME;;FACIOPALATOOSSEOUS SYNDROME; FPO
id in db is: 291409
inserted disease: 251038 ORPHA 3q29 microduplication
id in db is: 291410
inserted disease: 614707 OMIM #614707 BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
id in db is: 291411
inserted disease: 600845 OMIM PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1
id in db is: 291412
inserted disease: 613673 OMIM #613673 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; CDAN4
id in db is: 291413
inserted disease: 226150 OMIM 226150 ENTEROCOLITIS
id in db is: 291414
inserted disease: 608432 OMIM 608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM
id in db is: 291415
inserted disease: 139491 ORPHA Hemochromatosis type 4
id in db is: 291416
inserted disease: 201300 OMIM NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II
id in db is: 291417
inserted disease: 227300 OMIM FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
id in db is: 291418
inserted disease: 615095 OMIM MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10
id in db is: 291419
inserted disease: 300244 OMIM #300244 TERMINAL OSSEOUS DYSPLASIA; TOD;;TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; TODPD;;ODPD;;OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLEFRENULA; ODPF;;ODPF SYNDROME
id in db is: 291420
inserted disease: 614885 OMIM #614885 PEROXISOME BIOGENESIS DISORDER 11B; PBD11B
id in db is: 291421
inserted disease: 106400 OMIM ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSISDIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED
id in db is: 291422
inserted disease: 223400 OMIM DUODENAL ATRESIA
id in db is: 291423
inserted disease: 249400 OMIM #249400 MELANOSIS, NEUROCUTANEOUS; NCMS;;NEUROMELANOSIS
id in db is: 291424
inserted disease: 616682 OMIM #616682 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME; SSMS
id in db is: 291425
inserted disease: 609439 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 48
id in db is: 291426
inserted disease: 260370 OMIM #260370 PANCREATIC AGENESIS, CONGENITAL; PAGEN;;PANCREATIC HYPOPLASIA, CONGENITAL
id in db is: 291427
inserted disease: 613661 OMIM #613661 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P
id in db is: 291428
inserted disease: 79326 ORPHA ALG2-CDG
id in db is: 291429
inserted disease: 137370 OMIM 137370 GENU VALGUM, ST. HELENA FAMILIAL;;GENU VALGUM, HEREDITARY PUBERTAL
id in db is: 291430
inserted disease: 600512 OMIM EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
id in db is: 291431
inserted disease: 212780 OMIM #212780 CENANI-LENZ SYNDACTYLY SYNDROME; CLSS;;CENANI SYNDACTYLISM;;CENANI-LENZ SYNDACTYLY;;SYNDACTYLY, TYPE VII
id in db is: 291432
inserted disease: 182210 OMIM 182210 SHPRINTZEN OMPHALOCELE SYNDROME;;OMPHALOCELE WITH HYPOPLASIA OF PHARYNX AND LARYNX, LEARNING DISABILITY,DYSMORPHIC FACIES, AND SCOLIOSIS;;PHARYNX AND LARYNX HYPOPLASIA WITH OMPHALOCELE
id in db is: 291433
inserted disease: 615907 OMIM LYMPHEDEMA, HEREDITARY, ID; LMPH1D
id in db is: 291434
inserted disease: 300232 OMIM 300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION;;SEMD, X-LINKED, WITH MENTAL DETERIORATION
id in db is: 291435
inserted disease: 300577 OMIM #300577 MENTAL RETARDATION, X-LINKED 91; MRX91
id in db is: 291436
inserted disease: 1656 ORPHA Dermatitis herpetiformis
id in db is: 291437
inserted disease: 615919 OMIM ATAXIA-TELANGIECTASIA-LIKE DISORDER 2; ATLD2
id in db is: 291438
inserted disease: 615238 OMIM #615238 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5; FPLD5;;LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
id in db is: 291439
inserted disease: 152700 OMIM SYSTEMIC LUPUS ERYTHEMATOSUS
id in db is: 291440
inserted disease: 117210 OMIM SPINOCEREBELLAR ATAXIA 31
id in db is: 291441
inserted disease: 205200 OMIM AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA
id in db is: 291442
inserted disease: 1409 ORPHA Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
id in db is: 291443
inserted disease: 610532 OMIM LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5
id in db is: 291444
inserted disease: 616566 OMIM SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6
id in db is: 291445
inserted disease: 193500 OMIM WAARDENBURG SYNDROME, TYPE 1
id in db is: 291446
inserted disease: 275355 OMIM SQUAMOUS CELL CARCINOMA, HEAD AND NECK
id in db is: 291447
inserted disease: 612287 OMIM NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
id in db is: 291448
inserted disease: 233420 OMIM 46,XY SEX REVERSAL 7
id in db is: 291449
inserted disease: 183086 OMIM #183086 SPINOCEREBELLAR ATAXIA 6; SCA6
id in db is: 291450
inserted disease: 102500 OMIM #102500 HAJDU-CHENEY SYNDROME; HJCYS;;ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;;CHENEY SYNDROME;;ARTHRODENTOOSTEODYSPLASIA;;SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS
id in db is: 291451
inserted disease: 171400 OMIM MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
id in db is: 291452
inserted disease: 179900 OMIM %179900 RETINAL APLASIA;;AMAUROSIS CONGENITA
id in db is: 291453
inserted disease: 130600 OMIM #130600 ELLIPTOCYTOSIS 2; EL2;;ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
id in db is: 291454
inserted disease: 166260 OMIM GNATHODIAPHYSEAL DYSPLASIA
id in db is: 291455
inserted disease: 607541 OMIM #607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA;;ACD;;AVELLINO CORNEAL DYSTROPHY;;COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY;;GRANULAR CORNEAL DYSTROPHY, TYPE II; CGD2
id in db is: 291456
inserted disease: 273600 OMIM THALIDOMIDE SUSCEPTIBILITY
id in db is: 291457
inserted disease: 105250 OMIM AMYLOIDOSIS, PRIMARY CUTANEOUS
id in db is: 291458
inserted disease: 248250 OMIM #248250 HYPOMAGNESEMIA 3, RENAL; HOMG3;;HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORTOF MAGNESIUM;;HYPOMAGNESEMIA, ISOLATED RENAL;;HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSISHYPERCALCIURIA, CHILDHOOD, SELF-LIMITING, INCLUDED
id in db is: 291459
inserted disease: 190360 OMIM 190360 TRICHODYSPLASIA-XERODERMA
id in db is: 291460
inserted disease: 190350 OMIM #190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1;;TRPS I
id in db is: 291461
inserted disease: 314911 ORPHA Severe Canavan disease
id in db is: 291462
inserted disease: 614879 OMIM #614879 PEROXISOME BIOGENESIS DISORDER 9B; PBD9B;;REFSUM DISEASE, ADULT, 2;;PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICALPEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 11, INCLUDED;CG11, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP R, INCLUDED;;CGR; INCLUDED
id in db is: 291463
inserted disease: 144120 OMIM 144120 HYPERIMMUNOGLOBULIN G1(A1) SYNDROMEIMMUNOGLOBULIN HEAVY CHAIN REGULATOR, INCLUDED; IGHR
id in db is: 291464
inserted disease: 162091 OMIM #162091 SCHWANNOMATOSIS;;NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS
id in db is: 291465
inserted disease: 190310 OMIM TREMOR, NYSTAGMUS, AND DUODENAL ULCER
id in db is: 291466
inserted disease: 308600 OMIM JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY
id in db is: 291467
inserted disease: 613982 OMIM #613982 OSTEOGENESIS IMPERFECTA, TYPE VI; OI6
id in db is: 291468
inserted disease: 4 DECIPHER Angelman syndrome (Type 1)
id in db is: 291469
inserted disease: 609307 OMIM SPINOCEREBELLAR ATAXIA 27; SCA27
id in db is: 291470
inserted disease: 109740 OMIM 109740 BIFID NOSE, AUTOSOMAL DOMINANT
id in db is: 291471
inserted disease: 109730 OMIM #109730 AORTIC VALVE DISEASE 1; AOVD1;;AORTIC VALVE DISEASE;;BICUSPID AORTIC VALVE; BAV;;AORTIC VALVE, BICUSPID;;AORTIC VALVE, CALCIFICATION OF;;AORTIC STENOSIS, CALCIFIC
id in db is: 291472
inserted disease: 256870 OMIM 256870 NEUROPATHY, PAINFUL
id in db is: 291473
inserted disease: 136610 OMIM #136610 FRAGILE SITE 2q11
id in db is: 291474
inserted disease: 182800 OMIM SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS
id in db is: 291475
inserted disease: 91348 ORPHA Functioning gonadotropic adenoma
id in db is: 291476
inserted disease: 66633 ORPHA Sensorineural hearing loss-early graying-essential tremor syndrome
id in db is: 291477
inserted disease: 614869 OMIM #614869 USHER SYNDROME, TYPE IJ; USH1J
id in db is: 291478
inserted disease: 121350 OMIM CORACOCLAVICULAR JOINT, ANOMALOUS
id in db is: 291479
inserted disease: 169300 OMIM 169300 PECTUS EXCAVATUM;;FUNNEL CHEST
id in db is: 291480
inserted disease: 261337 ORPHA Distal 22q11.2 microduplication syndrome
id in db is: 291481
inserted disease: 606895 OMIM 606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWEDZYGOMATIC ARCH
id in db is: 291482
inserted disease: 611087 OMIM #611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE;;PMSE SYNDROME
id in db is: 291483
inserted disease: 261295 ORPHA 20p12.3 microdeletion syndrome
id in db is: 291484
inserted disease: 3318 ORPHA Essential thrombocythemia
id in db is: 291485
inserted disease: 121300 OMIM #121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED
id in db is: 291486
inserted disease: 613501 OMIM #613501 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT
id in db is: 291487
inserted disease: 2138 ORPHA 46,XX ovotesticular disorder of sex development
id in db is: 291488
inserted disease: 612650 OMIM #612650 CILIARY DYSKINESIA, PRIMARY, 12; CILD12
id in db is: 291489
inserted disease: 176390 OMIM PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1
id in db is: 291490
inserted disease: 605419 OMIM SCHIZOPHRENIA 10
id in db is: 291491
inserted disease: 266810 OMIM RENAL AND MULLERIAN DUCT HYPOPLASIA
id in db is: 291492
inserted disease: 2875 ORPHA Phakomatosis pigmentovascularis
id in db is: 291493
inserted disease: 79478 ORPHA Griscelli disease type 3
id in db is: 291494
inserted disease: 608747 OMIM #608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY;;IGF1 DEFICIENCY;;GROWTH RETARDATION WITH SENSORINEURAL DEAFNESS AND MENTAL RETARDATION
id in db is: 291495
inserted disease: 612406 OMIM DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17
id in db is: 291496
inserted disease: 314478 ORPHA Ovarian fibrothecoma
id in db is: 291497
inserted disease: 1861 ORPHA Thoracic dysplasia-hydrocephalus syndrome
id in db is: 291498
inserted disease: 8 DECIPHER Smith-Magenis Syndrome
id in db is: 291499
inserted disease: 303400 OMIM CLEFT PALATE, X-LINKED
id in db is: 291500
inserted disease: 251937 ORPHA Gangliocytoma
id in db is: 291501
inserted disease: 186 ORPHA Primary biliary cholangitis
id in db is: 291502
inserted disease: 256710 OMIM ELEJALDE DISEASE
id in db is: 291503
inserted disease: 104530 OMIM #104530 AMELOGENESIS IMPERFECTA, TYPE IA; AI1AAMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
id in db is: 291504
inserted disease: 614833 OMIM #614833 POLYMICROGYRIA WITH SEIZURES; PMGYS
id in db is: 291505
inserted disease: 613116 OMIM #613116 THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11THROMBOPHILIA DUE TO ELEVATED HISTIDINE-RICH GLYCOPROTEIN, INCLUDED
id in db is: 291506
inserted disease: 225310 OMIM EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTINABNORMALITY
id in db is: 291507
inserted disease: 3071 ORPHA Costello syndrome
id in db is: 291508
inserted disease: 90301 ORPHA Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
id in db is: 291509
inserted disease: 138 ORPHA CHARGE syndrome
id in db is: 291510
inserted disease: 313420 OMIM %313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED;;SPONDYLOMETAPHYSEAL DYSPLASIA, RICHMOND TYPE
id in db is: 291511
inserted disease: 607850 OMIM HAND OSTEOARTHRITIS
id in db is: 291512
inserted disease: 612098 OMIM CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11
id in db is: 291513
inserted disease: 218040 OMIM #218040 COSTELLO SYNDROME;;FACIOCUTANEOSKELETAL SYNDROME;;FCS SYNDROMEMYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS,INCLUDED
id in db is: 291514
inserted disease: 100 ORPHA Ataxia-telangiectasia
id in db is: 291515
inserted disease: 319218 ORPHA Ebola hemorrhagic fever
id in db is: 291516
inserted disease: 310200 OMIM #310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD;;DUCHENNE MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE
id in db is: 291517
inserted disease: 231550 OMIM #231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS;;TRIPLE-A SYNDROME;;ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER;;GLUCOCORTICOID DEFICIENCY AND ACHALASIA;;ALLGROVE SYNDROME;;ADDISONIAN-ACHALASIA SYNDROME;;HYPOADRENALISM WITH ACHALASIA;;ALACRIMA-ACHALASIA-ADDISONIANISM;;ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMAACHALASIA-ALACRIMA SYNDROME, INCLUDED
id in db is: 291518
inserted disease: 270900 OMIM SPASTIC PSEUDOSCLEROSIS
id in db is: 291519
inserted disease: 86893 ORPHA Nodular lymphocyte predominant Hodgkin lymphoma
id in db is: 291520
inserted disease: 96169 ORPHA Koolen-De Vries syndrome
id in db is: 291521
inserted disease: 3004 ORPHA Mirror polydactyly-vertebral segmentation-limbs defects syndrome
id in db is: 291522
inserted disease: 616544 OMIM RETINITIS PIGMENTOSA 73; RP73
id in db is: 291523
inserted disease: 209950 OMIM ATYPICAL MYCOBACTERIOSIS, FAMILIAL
id in db is: 291524
inserted disease: 114500 OMIM COLORECTAL CANCER
id in db is: 291525
inserted disease: 156610 OMIM #156610 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1;;SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS;;CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE;;MICHELIN TIRE BABY SYNDROME
id in db is: 291526
inserted disease: 615360 OMIM #615360 LEBER CONGENITAL AMAUROSIS 17; LCA17
id in db is: 291527
inserted disease: 261680 OMIM 261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC;;PCK1 DEFICIENCY, CYTOSOLIC;;PEPCK DEFICIENCY, CYTOSOLIC
id in db is: 291528
inserted disease: 2732 ORPHA Olivopontocerebellar atrophy-deafness syndrome
id in db is: 291529
inserted disease: 125852 OMIM DIABETES MELLITUS, INSULIN-DEPENDENT, 2
id in db is: 291530
inserted disease: 1937 ORPHA Eng-Strom syndrome
id in db is: 291531
inserted disease: 601708 OMIM SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL
id in db is: 291532
inserted disease: 85318 ORPHA X-linked intellectual disability-precocious puberty-obesity syndrome
id in db is: 291533
inserted disease: 2779 ORPHA Osteopathia striata-pigmentary dermopathy-white forelock syndrome
id in db is: 291534
inserted disease: 202600 OMIM AGENESIS OF CEREBRAL WHITE MATTER
id in db is: 291535
inserted disease: 606243 OMIM #606243 ALVEOLAR SOFT PART SARCOMA; ASPS
id in db is: 291536
inserted disease: 604715 OMIM #604715 ORTHOSTATIC INTOLERANCE;;NEUROCIRCULATORY ASTHENIA;;MITRAL VALVE PROLAPSE SYNDROME;;IRRITABLE HEART;;SOLDIERS HEART
id in db is: 291537
inserted disease: 222100 OMIM DIABETES MELLITUS, INSULIN-DEPENDENT
id in db is: 291538
inserted disease: 191000 OMIM TROCHLEA OF THE HUMERUS, APLASIA OF
id in db is: 291539
inserted disease: 261670 OMIM PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
id in db is: 291540
inserted disease: 601718 OMIM #601718 RETINITIS PIGMENTOSA 19; RP19
id in db is: 291541
inserted disease: 194071 OMIM MULTIPLE TUMOR-ASSOCIATED CHROMOSOME REGION 1
id in db is: 291542
inserted disease: 610377 OMIM #610377 MEVALONIC ACIDURIA; MEVA
id in db is: 291543
inserted disease: 607736 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
id in db is: 291544
inserted disease: 600757 OMIM OROFACIAL CLEFT 3
id in db is: 291545
inserted disease: 601071 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 9
id in db is: 291546
inserted disease: 614265 OMIM #614265 COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA
id in db is: 291547
inserted disease: 172 ORPHA Progressive familial intrahepatic cholestasis
id in db is: 291548
inserted disease: 71529 ORPHA Obesity due to melanocortin 4 receptor deficiency
id in db is: 291549
inserted disease: 2481 ORPHA Neurocutaneous melanocytosis
id in db is: 291550
inserted disease: 138790 OMIM 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES;;MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;;MNG/CRD/DA
id in db is: 291551
inserted disease: 131440 OMIM MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
id in db is: 291552
inserted disease: 300266 OMIM SPASTIC PARAPLEGIA 16, X-LINKED
id in db is: 291553
inserted disease: 600072 OMIM #600072 FATAL FAMILIAL INSOMNIA; FFI;;INSOMNIA, FATAL FAMILIAL
id in db is: 291554
inserted disease: 212160 OMIM CARNITINE DEFICIENCY, MYOPATHIC
id in db is: 291555
inserted disease: 616371 OMIM PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4
id in db is: 291556
inserted disease: 311070 OMIM #311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5;;OPTIC ATROPHY, POLYNEUROPATHY, AND DEAFNESS;;ROSENBERG-CHUTORIAN SYNDROME;;CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5
id in db is: 291557
inserted disease: 615724 OMIM #615724 PREMATURE OVARIAN FAILURE 9; POF9
id in db is: 291558
inserted disease: 149300 OMIM KOILONYCHIA, HEREDITARY
id in db is: 291559
inserted disease: 114550 OMIM HEPATOCELLULAR CARCINOMA
id in db is: 291560
inserted disease: 603457 OMIM ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA
id in db is: 291561
inserted disease: 411590 ORPHA Wolfram-like syndrome
id in db is: 291562
inserted disease: 277000 OMIM %277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME;;MRKH SYNDROME;;MULLERIAN APLASIA/DYSGENESIS;;VON MAYER-ROKITANSKY-KUSTER ANOMALY;;MRKH ANOMALY;;MRK ANOMALY;;UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA;;CONGENITAL ABSENCE OF UTERUS AND VAGINA; CAUVUROGENITAL ADYSPLASIA, INCLUDED
id in db is: 291563
inserted disease: 611091 OMIM #611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
id in db is: 291564
inserted disease: 613832 OMIM EPILEPSY, PROGRESSIVE MYOCLONIC, 5; EPM5
id in db is: 291565
inserted disease: 613266 OMIM #613266 WAARDENBURG SYNDROME, TYPE 4C; WS4C;;WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C;;WAARDENBURG SYNDROME, TYPE IVC
id in db is: 291566
inserted disease: 164280 OMIM #164280 FEINGOLD SYNDROME 1; FGLDS1;;FEINGOLD SYNDROME;;OCULODIGITOESOPHAGODUODENAL SYNDROME; ODED;;ODED SYNDROME;;MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME; MODED;;DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM;;MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME;;MMT SYNDROME;;MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE
id in db is: 291567
inserted disease: 300158 OMIM %300158 ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED; ACLLX;;ARTHROGRYPOSIS, X-LINKED, TYPE V, FORMERLY; AMCX5, FORMERLY
id in db is: 291568
inserted disease: 237400 OMIM HYPER-BETA-ALANINEMIA
id in db is: 291569
inserted disease: 243 ORPHA 46,XX gonadal dysgenesis
id in db is: 291570
inserted disease: 151400 OMIM LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL
id in db is: 291571
inserted disease: 241520 OMIM HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE
id in db is: 291572
inserted disease: 277180 OMIM VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF
id in db is: 291573
inserted disease: 117360 OMIM #117360 SPINOCEREBELLAR ATAXIA 29; SCA29;;CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT;CNPCA;;CEREBELLAR VERMIS APLASIA;;APLASIA OF CEREBELLAR VERMIS; ACV
id in db is: 291574
inserted disease: 614402 OMIM #614402 MICROPHTHALMIA, SYNDROMIC 11; MCOPS11
id in db is: 291575
inserted disease: 2028 ORPHA Juvenile hyaline fibromatosis
id in db is: 291576
inserted disease: 271150 OMIM SPINAL MUSCULAR ATROPHY, TYPE IV
id in db is: 291577
inserted disease: 611726 OMIM #611726 EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS;EPM3;;CEROID LIPOFUSCINOSIS, NEURONAL, 14; CLN14
id in db is: 291578
inserted disease: 97278 ORPHA PPoma
id in db is: 291579
inserted disease: 259690 OMIM OSTEOPENIA AND SPARSE HAIR
id in db is: 291580
inserted disease: 615583 OMIM #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME
id in db is: 291581
inserted disease: 523 ORPHA Hereditary leiomyomatosis and renal cell cancer
id in db is: 291582
inserted disease: 137867 ORPHA Madras motor neuron disease
id in db is: 291583
inserted disease: 601104 OMIM SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
id in db is: 291584
inserted disease: 142335 OMIM FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5
id in db is: 291585
inserted disease: 48372 ORPHA Nodular regenerative hyperplasia of the liver
id in db is: 291586
inserted disease: 226000 OMIM ENDOCARDIAL FIBROELASTOSIS
id in db is: 291587
inserted disease: 343 ORPHA Hyperimmunoglobulinemia D with periodic fever
id in db is: 291588
inserted disease: 516001 OMIM COMPLEX I, SUBUNIT ND2
id in db is: 291589
inserted disease: 65282 ORPHA Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
id in db is: 291590
inserted disease: 614723 OMIM #614723 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD;;APRT DEFICIENCY;;UROLITHIASIS, 2,8-@DIHYDROXYADENINE;;UROLITHIASIS, DHA;;NEPHROLITHIASIS, DHA
id in db is: 291591
inserted disease: 101200 OMIM #101200 APERT SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;;ACS IAPERT-CROUZON DISEASE, INCLUDED;;ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;;ACS II, INCLUDED;;VOGT CEPHALODACTYLY, INCLUDED
id in db is: 291592
inserted disease: 3181 ORPHA Sprengel deformity
id in db is: 291593
inserted disease: 606574 OMIM #606574 ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4;;OCULOCUTANEOUS ALBINISM, TYPE IV
id in db is: 291594
inserted disease: 613724 OMIM #613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY;;STEROL CARRIER PROTEIN 2 DEFICIENCY
id in db is: 291595
inserted disease: 165550 OMIM #165550 OPTIC NERVE HYPOPLASIA, BILATERALOPTIC NERVE APLASIA, BILATERAL, INCLUDED
id in db is: 291596
inserted disease: 172700 OMIM #172700 PICK DISEASE OF BRAIN;;LOBAR ATROPHY OF BRAIN;;DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
id in db is: 291597
inserted disease: 96061 ORPHA Mosaic trisomy 8
id in db is: 291598
inserted disease: 95717 ORPHA Idiopathic congenital hypothyroidism
id in db is: 291599
inserted disease: 247420 OMIM LUTHERAN NULL
id in db is: 291600
inserted disease: 610504 OMIM #610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM
id in db is: 291601
inserted disease: 616050 OMIM AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC
id in db is: 291602
inserted disease: 616263 OMIM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD
id in db is: 291603
inserted disease: 613587 OMIM #613587 OCCULT MACULAR DYSTROPHY; OCMD;;OMD
id in db is: 291604
inserted disease: 610698 OMIM MACULAR DEGENERATION, AGE-RELATED, 4
id in db is: 291605
inserted disease: 300489 OMIM SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3
id in db is: 291606
inserted disease: 608133 OMIM RETINITIS PIGMENTOSA 7; RP7
id in db is: 291607
inserted disease: 613254 OMIM TUBEROUS SCLEROSIS 2; TSC2
id in db is: 291608
inserted disease: 1552 ORPHA Currarino triad
id in db is: 291609
inserted disease: 144010 OMIM HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
id in db is: 291610
inserted disease: 2124 ORPHA Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
id in db is: 291611
inserted disease: 222600 OMIM #222600 DIASTROPHIC DYSPLASIA;;DTD;;DDDIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED
id in db is: 291612
inserted disease: 609286 OMIM #609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3; PEOA3;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 3
id in db is: 291613
inserted disease: 666 ORPHA Osteogenesis imperfecta
id in db is: 291614
inserted disease: 614105 OMIM METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MMSDHD
id in db is: 291615
inserted disease: 612119 OMIM TREHALASE DEFICIENCY
id in db is: 291616
inserted disease: 352 ORPHA Galactosemia
id in db is: 291617
inserted disease: 600546 OMIM INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY
id in db is: 291618
inserted disease: 1120 ORPHA Lung agenesis-heart defect-thumb anomalies syndrome
id in db is: 291619
inserted disease: 1875 ORPHA Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
id in db is: 291620
inserted disease: 603284 OMIM CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
id in db is: 291621
inserted disease: 610217 OMIM NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B
id in db is: 291622
inserted disease: 613834 OMIM #613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME;;MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTICANEURYSM, AND VASCULOPATHY
id in db is: 291623
inserted disease: 3289 ORPHA Taurodontism
id in db is: 291624
inserted disease: 314100 OMIM THUMBS, CONGENITAL CLASPED
id in db is: 291625
inserted disease: 309605 OMIM MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
id in db is: 291626
inserted disease: 601382 OMIM CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1
id in db is: 291627
inserted disease: 607748 OMIM #607748 HYPERCHOLANEMIA, FAMILIAL; FHCA
id in db is: 291628
inserted disease: 615382 OMIM #615382 NEPHRONOPHTHISIS 16; NPHP16
id in db is: 291629
inserted disease: 46486 ORPHA Mucous membrane pemphigoid
id in db is: 291630
inserted disease: 601706 OMIM YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
id in db is: 291631
inserted disease: 2285 ORPHA Primary basilar invagination
id in db is: 291632
inserted disease: 235400 OMIM #235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1;;AHUS, SUSCEPTIBILITY TO, 1HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
id in db is: 291633
inserted disease: 400045 OMIM 46,XX SEX REVERSAL 1
id in db is: 291634
inserted disease: 29073 ORPHA Multiple myeloma
id in db is: 291635
inserted disease: 1756 ORPHA Caudal duplication
id in db is: 291636
inserted disease: 989 ORPHA Hypoglossia-hypodactyly syndrome
id in db is: 291637
inserted disease: 138000 OMIM GLOMUVENOUS MALFORMATIONS
id in db is: 291638
inserted disease: 213900 OMIM CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE
id in db is: 291639
inserted disease: 93299 ORPHA Achondrogenesis type 1A
id in db is: 291640
inserted disease: 616084 OMIM SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD
id in db is: 291641
inserted disease: 23 ORPHA Argininosuccinic aciduria
id in db is: 291642
inserted disease: 605850 OMIM DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY
id in db is: 291643
inserted disease: 611093 OMIM #611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7;;MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22; MRT22
id in db is: 291644
inserted disease: 613884 OMIM CHROMOSOME 13q14 DELETION SYNDROME
id in db is: 291645
inserted disease: 614050 OMIM #614050 ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12
id in db is: 291646
inserted disease: 129850 OMIM EDINBURGH MALFORMATION SYNDROME
id in db is: 291647
inserted disease: 192310 OMIM VASCULITIS, LYMPHOCYTIC, NODULAR
id in db is: 291648
inserted disease: 613695 OMIM LONG QT SYNDROME 5; LQT5
id in db is: 291649
inserted disease: 90154 ORPHA Mandibuloacral dysplasia with type B lipodystrophy
id in db is: 291650
inserted disease: 105210 OMIM #105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED;;HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED;;TRANSTHYRETIN AMYLOIDOSIS;;AMYLOID POLYNEUROPATHY, FAMILIAL; FAPAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED;;AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED
id in db is: 291651
inserted disease: 611228 OMIM CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J
id in db is: 291652
inserted disease: 613575 OMIM #613575 RETINITIS PIGMENTOSA 55; RP55
id in db is: 291653
inserted disease: 187050 OMIM TEETH PRESENT AT BIRTH
id in db is: 291654
inserted disease: 167900 OMIM PAPILLOMATOSIS, FAMILIAL CUTANEOUS
id in db is: 291655
inserted disease: 95712 ORPHA Thyroid ectopia
id in db is: 291656
inserted disease: 616532 OMIM #616532 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7;;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 7; IIAE7
id in db is: 291657
inserted disease: 263520 OMIM #263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;;SRPS, TYPE II;;MAJEWSKI SYNDROME;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II
id in db is: 291658
inserted disease: 151440 OMIM LEUKEMIA, LYMPHOID, 1
id in db is: 291659
inserted disease: 606552 OMIM EPISODIC ATAXIA, TYPE 4
id in db is: 291660
inserted disease: 124060 OMIM CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2
id in db is: 291661
inserted disease: 114 ORPHA Auriculoosteodysplasia
id in db is: 291662
inserted disease: 998 ORPHA Albinism-deafness syndrome
id in db is: 291663
inserted disease: 166277 ORPHA Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
id in db is: 291664
inserted disease: 181 ORPHA X-linked hypohidrotic ectodermal dysplasia
id in db is: 291665
inserted disease: 129810 OMIM ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE
id in db is: 291666
inserted disease: 614414 OMIM %614414 DEAFNESS, AUTOSOMAL RECESSIVE 96; DFNB96
id in db is: 291667
inserted disease: 100070 ORPHA Progressive non-fluent aphasia
id in db is: 291668
inserted disease: 91130 ORPHA Cardiomyopathy-hypotonia-lactic acidosis syndrome
id in db is: 291669
inserted disease: 105565 OMIM ANAL SPHINCTER MYOPATHY, INTERNAL
id in db is: 291670
inserted disease: 90 ORPHA Argininemia
id in db is: 291671
inserted disease: 603543 OMIM #603543 LIMB-MAMMARY SYNDROME; LMS
id in db is: 291672
inserted disease: 227310 OMIM FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEINC AND PROTEIN C INHIBITOR
id in db is: 291673
inserted disease: 614500 OMIM #614500 CONE-ROD DYSTROPHY 16; CORD16;;RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENTRETINITIS PIGMENTOSA 64, INCLUDED; RP64, INCLUDED
id in db is: 291674
inserted disease: 118865 OMIM 118865 CHOROIDAL OSTEOMA, BILATERAL
id in db is: 291675
inserted disease: 615073 OMIM #615073 DYSTONIA 25; DYT25
id in db is: 291676
inserted disease: 245552 OMIM LAMBOTTE SYNDROME
id in db is: 291677
inserted disease: 1927 ORPHA Emery-Nelson syndrome
id in db is: 291678
inserted disease: 2072 ORPHA Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
id in db is: 291679
inserted disease: 1681 ORPHA Diprosopus
id in db is: 291680
inserted disease: 1381 ORPHA Cataract-intellectual disability-anal atresia-urinary defects syndrome
id in db is: 291681
inserted disease: 614867 OMIM PEROXISOME BIOGENESIS DISORDER 5B; PBD5B
id in db is: 291682
inserted disease: 56 ORPHA Alkaptonuria
id in db is: 291683
inserted disease: 846 ORPHA Alpha-thalassemia
id in db is: 291684
inserted disease: 170980 OMIM PERONEAL NERVE, ACCESSORY DEEP
id in db is: 291685
inserted disease: 99429 ORPHA Complete androgen insensitivity syndrome
id in db is: 291686
inserted disease: 616211 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28
id in db is: 291687
inserted disease: 608627 OMIM #608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8
id in db is: 291688
inserted disease: 275000 OMIM %275000 GRAVES DISEASE;;GRD;;THYROTOXICOSIS;;HYPERTHYROIDISM, AUTOIMMUNEGRAVES DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED; GRD1, INCLUDED
id in db is: 291689
inserted disease: 613563 OMIM NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL
id in db is: 291690
inserted disease: 203800 OMIM #203800 ALSTROM SYNDROME; ALMS;;ALSS
id in db is: 291691
inserted disease: 300106 OMIM 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED;;SEMD, X-LINKED; SEMDX
id in db is: 291692
inserted disease: 217800 OMIM MACULAR DYSTROPHY, CORNEAL, 1
id in db is: 291693
inserted disease: 107850 OMIM 107850 ARM FOLDING PREFERENCE
id in db is: 291694
inserted disease: 610279 OMIM PACHYGYRIA, FRONTOTEMPORAL
id in db is: 291695
inserted disease: 160565 OMIM #160565 MYOPATHY, TUBULAR AGGREGATE, 1; TAM1;;MYOPATHY, TUBULAR AGGREGATE; TAM;;TUBULAR AGGREGATE MYOPATHY
id in db is: 291696
inserted disease: 186700 OMIM SYRINGOMYELIA, ISOLATED
id in db is: 291697
inserted disease: 215450 OMIM CHOREA, BENIGN FAMILIAL
id in db is: 291698
inserted disease: 260480 OMIM 260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX
id in db is: 291699
inserted disease: 261630 OMIM #261630 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C;;HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPRDEFICIENCY;;DIHYDROPTERIDINE REDUCTASE DEFICIENCY;;DHPR DEFICIENCY;;QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY;;QDPR DEFICIENCY
id in db is: 291700
inserted disease: 608105 OMIM EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA ANDWRITER'S CRAMP
id in db is: 291701
inserted disease: 300455 OMIM #300455 RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITHOR WITHOUT DEAFNESS
id in db is: 291702
inserted disease: 53715 ORPHA Familial tumoral calcinosis
id in db is: 291703
inserted disease: 126190 OMIM 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS
id in db is: 291704
inserted disease: 206000 OMIM ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE
id in db is: 291705
inserted disease: 168984 ORPHA CLAPO syndrome
id in db is: 291706
inserted disease: 75233 ORPHA Wolman disease
id in db is: 291707
inserted disease: 615758 OMIM IMMUNODEFICIENCY 22; IMD22
id in db is: 291708
inserted disease: 202650 OMIM #202650 AGNATHIA-OTOCEPHALY COMPLEX; AGOTC;;DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY;;HOLOPROSENCEPHALY-AGNATHIA;;OTOCEPHALY
id in db is: 291709
inserted disease: 185500 OMIM SUPRAVALVULAR AORTIC STENOSIS
id in db is: 291710
inserted disease: 1852 ORPHA X-linked retinal dysplasia
id in db is: 291711
inserted disease: 132600 OMIM #132600 PILOMATRIXOMA;;PILOMATRICOMA; PTR;;EPITHELIOMA CALCIFICANS OF MALHERBE
id in db is: 291712
inserted disease: 601370 OMIM HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS
id in db is: 291713
inserted disease: 313892 ORPHA Developmental and speech delay due to SOX5 deficiency
id in db is: 291714
inserted disease: 300431 OMIM ATKIN-FLAITZ SYNDROME
id in db is: 291715
inserted disease: 1300 ORPHA Autosomal dominant popliteal pterygium syndrome
id in db is: 291716
inserted disease: 208060 OMIM ARTERIOSCLEROSIS, SEVERE JUVENILE
id in db is: 291717
inserted disease: 610205 OMIM #610205 ALAGILLE SYNDROME 2; ALGS2
id in db is: 291718
inserted disease: 609638 OMIM #609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA;;LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA; LAEB
id in db is: 291719
inserted disease: 1695 ORPHA Non-distal trisomy 10q
id in db is: 291720
inserted disease: 1509 ORPHA Coxopodopatellar syndrome
id in db is: 291721
inserted disease: 158000 OMIM MONILETHRIX; MNLIX
id in db is: 291722
inserted disease: 2456 ORPHA Familial supernumerary nipples
id in db is: 291723
inserted disease: 610542 OMIM #610542 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; CMSTA1
id in db is: 291724
inserted disease: 271650 OMIM SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE
id in db is: 291725
inserted disease: 616719 OMIM #616719 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21;;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, WITH HEPATOPATHY
id in db is: 291726
inserted disease: 176100 OMIM #176100 PORPHYRIA CUTANEA TARDA;;PCT;;PORPHYRIA CUTANEA TARDA, TYPE II;;PCT, TYPE II;;PCT, 'FAMILIAL' TYPE;;PORPHYRIA, HEPATOCUTANEOUS TYPE;;UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY;;UROD DEFICIENCYPORPHYRIA, HEPATOERYTHROPOIETIC, INCLUDED; HEP, INCLUDED
id in db is: 291727
inserted disease: 605282 OMIM TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS
id in db is: 291728
inserted disease: 615990 OMIM BARDET-BIEDL SYNDROME 13; BBS13
id in db is: 291729
inserted disease: 2970 ORPHA Prune belly syndrome
id in db is: 291730
inserted disease: 613087 OMIM #613087 ATRIAL SEPTAL DEFECT 6; ASD6
id in db is: 291731
inserted disease: 312840 OMIM SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME
id in db is: 291732
inserted disease: 134610 OMIM #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT;;FMF, AUTOSOMAL DOMINANT
id in db is: 291733
inserted disease: 2903 ORPHA Familial spontaneous pneumothorax
id in db is: 291734
inserted disease: 263455 ORPHA Hyperinsulinism due to HNF4A deficiency
id in db is: 291735
inserted disease: 136500 OMIM FOCAL FACIAL DERMAL DYSPLASIA
id in db is: 291736
inserted disease: 608902 OMIM DRUG METABOLISM, POOR, CYP2D6-RELATEDDRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED
id in db is: 291737
inserted disease: 141300 OMIM HEMIFACIAL ATROPHY, PROGRESSIVE; HFA
id in db is: 291738
inserted disease: 615085 OMIM #615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8
id in db is: 291739
inserted disease: 615909 OMIM DIAMOND-BLACKFAN ANEMIA 13; DBA13
id in db is: 291740
inserted disease: 144750 OMIM #144750 ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT;;HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUSPALATINUS;;OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
id in db is: 291741
inserted disease: 257400 OMIM NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE
id in db is: 291742
inserted disease: 98848 ORPHA Indolent systemic mastocytosis
id in db is: 291743
inserted disease: 123557 OMIM CRYPTOTIA, FAMILIAL
id in db is: 291744
inserted disease: 1338 ORPHA Heart defect-tongue hamartoma-polysyndactyly syndrome
id in db is: 291745
inserted disease: 609909 OMIM #609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P
id in db is: 291746
inserted disease: 600522 OMIM PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A
id in db is: 291747
inserted disease: 137360 OMIM GENOCHONDROMATOSIS
id in db is: 291748
inserted disease: 428 ORPHA Autosomal dominant hypocalcemia
id in db is: 291749
inserted disease: 104570 OMIM AMELOONYCHOHYPOHIDROTIC SYNDROME
id in db is: 291750
inserted disease: 251623 ORPHA Pituicytoma
id in db is: 291751
inserted disease: 314390 OMIM VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED
id in db is: 291752
inserted disease: 614558 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13
id in db is: 291753
inserted disease: 604391 OMIM ATAXIA-TELANGIECTASIA-LIKE DISORDER 1; ATLD1
id in db is: 291754
inserted disease: 242880 OMIM IMMUNOERYTHROMYELOID HYPOPLASIA
id in db is: 291755
inserted disease: 612076 OMIM HYPOURICEMIA, RENAL, 2; RHUC2
id in db is: 291756
inserted disease: 611390 OMIM #611390 SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3;;AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY; ARSAL
id in db is: 291757
inserted disease: 675 ORPHA Annular pancreas
id in db is: 291758
inserted disease: 612540 OMIM #612540 MYOPATHY, CONGENITAL, COMPTON-NORTH; MYPCN
id in db is: 291759
inserted disease: 605309 OMIM #605309 MACROCEPHALY/AUTISM SYNDROME
id in db is: 291760
inserted disease: 614225 OMIM #614225 WARBURG MICRO SYNDROME 2; WARBM2;;MICRO SYNDROME 2
id in db is: 291761
inserted disease: 614438 OMIM #614438 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B;;DE BARSY SYNDROME B
id in db is: 291762
inserted disease: 276820 OMIM #276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY;;LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME; LPHAS;;AL-AWADI/RAAS-ROTHSCHILD SYNDROME; AARRS;;SCHINZEL PHOCOMELIA SYNDROME
id in db is: 291763
inserted disease: 145900 OMIM HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
id in db is: 291764
inserted disease: 613559 OMIM #613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7
id in db is: 291765
inserted disease: 113970 OMIM BURKITT LYMPHOMA; BL
id in db is: 291766
inserted disease: 614299 OMIM #614299 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2; MMDS2
id in db is: 291767
inserted disease: 495 ORPHA Transgrediens et progrediens palmoplantar keratoderma
id in db is: 291768
inserted disease: 130010 OMIM EHLERS-DANLOS SYNDROME, TYPE II
id in db is: 291769
inserted disease: 90158 ORPHA Idiopathic localized lipodystrophy
id in db is: 291770
inserted disease: 601884 OMIM BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
id in db is: 291771
inserted disease: 603860 OMIM #603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2;;MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT; ADMCKD2
id in db is: 291772
inserted disease: 615234 OMIM #615234 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2; AHMIO2
id in db is: 291773
inserted disease: 191500 OMIM UNDRITZ ANOMALY
id in db is: 291774
inserted disease: 606713 OMIM #606713 VAN DER WOUDE SYNDROME 2; VWS2
id in db is: 291775
inserted disease: 195 ORPHA Cat-eye syndrome
id in db is: 291776
inserted disease: 66 DECIPHER 15q24 recurrent microdeletion syndrome
id in db is: 291777
inserted disease: 229300 OMIM #229300 FRIEDREICH ATAXIA 1; FRDA;;FRDA1;;FAFRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
id in db is: 291778
inserted disease: 381 ORPHA Griscelli disease
id in db is: 291779
inserted disease: 158029 ORPHA Sea-blue histiocytosis
id in db is: 291780
inserted disease: 614253 OMIM #614253 AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME; AIGFS
id in db is: 291781
inserted disease: 2162 ORPHA Holoprosencephaly
id in db is: 291782
inserted disease: 103230 OMIM 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL;;ADDISON DISEASE, CONGENITAL
id in db is: 291783
inserted disease: 614213 OMIM #614213 NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C
id in db is: 291784
inserted disease: 613382 OMIM BRACHYDACTYLY, TYPE E2; BDE2
id in db is: 291785
inserted disease: 162240 OMIM NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME
id in db is: 291786
inserted disease: 186860 OMIM T-CELL LEUKEMIA/LYMPHOMA 4
id in db is: 291787
inserted disease: 242860 OMIM #242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1; ICF1;;IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES1, 9, AND 16;;CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;;IMMUNODEFICIENCY SYNDROME, VARIABLE
id in db is: 291788
inserted disease: 607250 OMIM #607250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY;SCAN1
id in db is: 291789
inserted disease: 214150 OMIM #214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1;;COFS SYNDROME; COFS;;PENA-SHOKEIR SYNDROME, TYPE II
id in db is: 291790
inserted disease: 603736 OMIM BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE
id in db is: 291791
inserted disease: 436144 ORPHA Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
id in db is: 291792
inserted disease: 242840 OMIM #242840 VICI SYNDROME; VICIS;;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,AND ABSENT CORPUS CALLOSUM
id in db is: 291793
inserted disease: 1871 ORPHA Progressive cone dystrophy
id in db is: 291794
inserted disease: 88621 ORPHA Ichthyosis prematurity syndrome
id in db is: 291795
inserted disease: 444463 ORPHA Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
id in db is: 291796
inserted disease: 233430 OMIM 233430 GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES
id in db is: 291797
inserted disease: 110 ORPHA Bardet-Biedl syndrome
id in db is: 291798
inserted disease: 704 ORPHA Pemphigus vulgaris
id in db is: 291799
inserted disease: 52055 ORPHA Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
id in db is: 291800
inserted disease: 117850 OMIM CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS
id in db is: 291801
inserted disease: 309900 OMIM #309900 MUCOPOLYSACCHARIDOSIS TYPE II;;MPS II; MPS2;;HUNTER SYNDROME;;IDURONATE 2-SULFATASE DEFICIENCY;;IDS DEFICIENCY;;SULFOIDURONATE SULFATASE DEFICIENCY;;SIDS DEFICIENCY
id in db is: 291802
inserted disease: 227645 OMIM #227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC;;FACC; FAC;;FANCONI PANCYTOPENIA, TYPE 3; FA3
id in db is: 291803
inserted disease: 238600 OMIM #238600 HYPERLIPOPROTEINEMIA, TYPE I;;LIPOPROTEIN LIPASE DEFICIENCY;;LPL DEFICIENCY;;HYPERCHYLOMICRONEMIA, FAMILIAL;;HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE;;HYPERLIPEMIA, ESSENTIAL FAMILIAL;;LIPASE D DEFICIENCY;;LIPD DEFICIENCY;;HYPERLIPOPROTEINEMIA, TYPE IA;;CHYLOMICRONEMIA, FAMILIAL
id in db is: 291804
inserted disease: 221016 ORPHA Rothmund-Thomson syndrome type 2
id in db is: 291805
inserted disease: 182200 OMIM SELLA TURCICA, BRIDGED
id in db is: 291806
inserted disease: 164700 OMIM 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V;;OPCA WITH DEMENTIA AND EXTRAPYRAMIDAL SIGNS
id in db is: 291807
inserted disease: 616255 OMIM #616255 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK
id in db is: 291808
inserted disease: 159001 OMIM MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
id in db is: 291809
inserted disease: 607734 OMIM CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F
id in db is: 291810
inserted disease: 109100 OMIM AUTOIMMUNE DISEASE
id in db is: 291811
inserted disease: 178110 OMIM #178110 ARTHROGRYPOSIS, DISTAL, TYPE 8; DA8;;MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT;;PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT
id in db is: 291812
inserted disease: 813 ORPHA Silver-Russell syndrome
id in db is: 291813
inserted disease: 148190 OMIM KERATITIS, HEREDITARY
id in db is: 291814
inserted disease: 329475 ORPHA Spastic paraplegia-Paget disease of bone syndrome
id in db is: 291815
inserted disease: 302905 OMIM CHARGE-LIKE SYNDROME, X-LINKED
id in db is: 291816
inserted disease: 366 ORPHA Glycogen storage disease due to glycogen debranching enzyme deficiency
id in db is: 291817
inserted disease: 200610 OMIM #200610 ACHONDROGENESIS, TYPE II; ACG2;;ACHONDROGENESIS, LANGER-SALDINO TYPE;;CHONDROGENESIS IMPERFECTA;;ACHONDROGENESIS, TYPE IB, FORMERLYHYPOCHONDROGENESIS, INCLUDED
id in db is: 291818
inserted disease: 236270 OMIM #236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE;;HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,cblE COMPLEMENTATION TYPE;;VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE;;METHYLCOBALAMIN DEFICIENCY, cblE TYPE
id in db is: 291819
inserted disease: 607597 OMIM MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES
id in db is: 291820
inserted disease: 616576 OMIM IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12
id in db is: 291821
inserted disease: 217390 ORPHA Combined immunodeficiency due to DOCK8 deficiency
id in db is: 291822
inserted disease: 614279 OMIM #614279 46,XY SEX REVERSAL 8; SRXY8;;MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;TDD
id in db is: 291823
inserted disease: 601543 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 12
id in db is: 291824
inserted disease: 1600 ORPHA Monosomy 18q
id in db is: 291825
inserted disease: 162260 OMIM NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL
id in db is: 291826
inserted disease: 238750 OMIM HYPERLYSINURIA WITH HYPERAMMONEMIA
id in db is: 291827
inserted disease: 1837 ORPHA Ulna metaphyseal dysplasia syndrome
id in db is: 291828
inserted disease: 614861 OMIM #614861 DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98
id in db is: 291829
inserted disease: 612237 OMIM #612237 CHONDROSARCOMA, EXTRASKELETAL MYXOID;;EMC
id in db is: 291830
inserted disease: 1243 ORPHA Best vitelliform macular dystrophy
id in db is: 291831
inserted disease: 2128 ORPHA Isolated hemihyperplasia
id in db is: 291832
inserted disease: 613820 OMIM #613820 NEPHRONOPHTHISIS 12; NPHP12JOUBERT SYNDROME 11, INCLUDED; JBTS11, INCLUDED
id in db is: 291833
inserted disease: 614129 OMIM #614129 PERRAULT SYNDROME 3; PRLTS3;;DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY; DFNB81, FORMERLY
id in db is: 291834
inserted disease: 94095 ORPHA Spondylocostal dysostosis-anal and genitourinary malformations syndrome
id in db is: 291835
inserted disease: 141900 OMIM +141900 HEMOGLOBIN--BETA LOCUS; HBBMETHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED;;ERYTHREMIA, BETA-GLOBIN TYPE, INCLUDED
id in db is: 291836
inserted disease: 300909 OMIM ACQUIRED ANGIOEDEMA
id in db is: 291837
inserted disease: 615575 OMIM #615575 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D;;HMN IID;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; DHMN2D;;SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT
id in db is: 291838
inserted disease: 300425 OMIM AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1
id in db is: 291839
inserted disease: 600117 OMIM DYSPHASIA, FAMILIAL DEVELOPMENTAL
id in db is: 291840
inserted disease: 615862 OMIM NEPHRONOPHTHISIS 18; NPHP18
id in db is: 291841
inserted disease: 615842 OMIM SPERMATOGENIC FAILURE 14; SPGF14
id in db is: 291842
inserted disease: 102530 OMIM SPERMATOGENIC FAILURE 6; SPGF6
id in db is: 291843
inserted disease: 278200 OMIM WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS
id in db is: 291844
inserted disease: 228600 OMIM HYALINE FIBROMATOSIS SYNDROME; HFS
id in db is: 291845
inserted disease: 247768 ORPHA Müllerian aplasia and hyperandrogenism
id in db is: 291846
inserted disease: 444002 ORPHA 11q22.2q22.3 microdeletion syndrome
id in db is: 291847
inserted disease: 608572 OMIM %608572 BURN-MCKEOWN SYNDROME
id in db is: 291848
inserted disease: 134780 OMIM 134780 FEMORAL-FACIAL SYNDROME; FFS;;FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS
id in db is: 291849
inserted disease: 1818 ORPHA Ectodermal dysplasia, trichoodontoonychial type
id in db is: 291850
inserted disease: 602107 OMIM NEUROPATHY, HEREDITARY THERMOSENSITIVE
id in db is: 291851
inserted disease: 176 ORPHA Non-rhizomelic chondrodysplasia punctata
id in db is: 291852
inserted disease: 270300 OMIM #270300 PEELING SKIN SYNDROME 1; PSS1;;PSS;;SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED;;KERATOLYSIS EXFOLIATIVA CONGENITA;;DECIDUOUS SKIN
id in db is: 291853
inserted disease: 191650 OMIM URETEROCELE
id in db is: 291854
inserted disease: 300758 OMIM #300758 HYPOSPADIAS 2, X-LINKED; HYSP2
id in db is: 291855
inserted disease: 95707 ORPHA Isolated micropenis
id in db is: 291856
inserted disease: 994 ORPHA Fetal akinesia deformation sequence
id in db is: 291857
inserted disease: 614520 OMIM ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY
id in db is: 291858
inserted disease: 174700 OMIM POLYDACTYLY, PREAXIAL IV
id in db is: 291859
inserted disease: 314240 OMIM TOOTH SIZE
id in db is: 291860
inserted disease: 642 ORPHA Hereditary sensory and autonomic neuropathy type 4
id in db is: 291861
inserted disease: 2143 ORPHA Donnai-Barrow syndrome
id in db is: 291862
inserted disease: 601230 OMIM DERMATITIS HERPETIFORMIS, FAMILIAL
id in db is: 291863
inserted disease: 3361 ORPHA Trichodysplasia-xeroderma syndrome
id in db is: 291864
inserted disease: 181500 OMIM #181500 SCHIZOPHRENIA; SCZD;;SCHIZOAFFECTIVE DISORDER, INCLUDED
id in db is: 291865
inserted disease: 89839 ORPHA Epidermolysis bullosa simplex superficialis
id in db is: 291866
inserted disease: 301590 OMIM MICROPHTHALMIA, SYNDROMIC 4
id in db is: 291867
inserted disease: 1433 ORPHA Choroidal atrophy-alopecia syndrome
id in db is: 291868
inserted disease: 202010 OMIM ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASEDEFICIENCY
id in db is: 291869
inserted disease: 213300 OMIM #213300 JOUBERT SYNDROME 1; JBTS1;;JOUBERT SYNDROME; JBTS;;JOUBERT-BOLTSHAUSER SYNDROME;;CEREBELLOPARENCHYMAL DISORDER IV; CPD4;;CEREBELLOOCULORENAL SYNDROME 1; CORS1
id in db is: 291870
inserted disease: 699 ORPHA Pearson syndrome
id in db is: 291871
inserted disease: 46724 ORPHA Cerebral arteriovenous malformation
id in db is: 291872
inserted disease: 90348 ORPHA Autosomal dominant cutis laxa
id in db is: 291873
inserted disease: 100026 ORPHA Gamma-heavy chain disease
id in db is: 291874
inserted disease: 150250 OMIM #150250 LARSEN SYNDROME; LRS
id in db is: 291875
inserted disease: 205950 OMIM ANEMIA, CONGENITAL SIDEROBLASTIC, B6-NONRESPONSIVE
id in db is: 291876
inserted disease: 610680 OMIM 610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS
id in db is: 291877
inserted disease: 2314 ORPHA Autosomal dominant hyper-IgE syndrome
id in db is: 291878
inserted disease: 602080 OMIM #602080 PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2
id in db is: 291879
inserted disease: 210740 OMIM BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES,GOITER, AND PRIMARY GONADAL INSUFFICIENCY
id in db is: 291880
inserted disease: 604129 OMIM #604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA;;DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA;;DEB, PRURIGINOSA
id in db is: 291881
inserted disease: 600084 OMIM MACROCYTOSIS, FAMILIAL
id in db is: 291882
inserted disease: 599 ORPHA Distal myopathy
id in db is: 291883
inserted disease: 125370 OMIM DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA
id in db is: 291884
inserted disease: 126050 OMIM DIGITOTALAR DYSMORPHISM
id in db is: 291885
inserted disease: 614841 OMIM HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12
id in db is: 291886
inserted disease: 1414 ORPHA Cholestasis-lymphedema syndrome
id in db is: 291887
inserted disease: 600105 OMIM RETINITIS PIGMENTOSA 12
id in db is: 291888
inserted disease: 137658 ORPHA Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
id in db is: 291889
inserted disease: 83628 ORPHA PELVIS syndrome
id in db is: 291890
inserted disease: 157300 OMIM MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
id in db is: 291891
inserted disease: 206500 OMIM ANENCEPHALY
id in db is: 291892
inserted disease: 115200 OMIM #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE
id in db is: 291893
inserted disease: 184850 OMIM %184850 STIFF-PERSON SYNDROME; SPS;;STIFF-MAN SYNDROME;;STIFF-TRUNK SYNDROMEPROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED; PERM, INCLUDED;PER, INCLUDED
id in db is: 291894
inserted disease: 616562 OMIM RETINITIS PIGMENTOSA 74; RP74
id in db is: 291895
inserted disease: 613854 OMIM #613854 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3; DTGA3
id in db is: 291896
inserted disease: 615830 OMIM PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4
id in db is: 291897
inserted disease: 220290 OMIM #220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1ADEAFNESS, DIGENIC, GJB2/GJB6, INCLUDED;;DEAFNESS, DIGENIC, GJB2/GJB3, INCLUDED
id in db is: 291898
inserted disease: 310700 OMIM NYSTAGMUS 1, CONGENITAL, X-LINKED
id in db is: 291899
inserted disease: 234280 OMIM HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY
id in db is: 291900
inserted disease: 613874 OMIM #613874 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18
id in db is: 291901
inserted disease: 611407 OMIM #611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W
id in db is: 291902
inserted disease: 616269 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48
id in db is: 291903
inserted disease: 610227 OMIM #610227 SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
id in db is: 291904
inserted disease: 616418 OMIM HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR
id in db is: 291905
inserted disease: 615706 OMIM #615706 AURICULOCONDYLAR SYNDROME 3; ARCND3
id in db is: 291906
inserted disease: 3000 ORPHA Familial male-limited precocious puberty
id in db is: 291907
inserted disease: 183050 OMIM SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY
id in db is: 291908
inserted disease: 1790 ORPHA Hypomandibular faciocranial dysostosis
id in db is: 291909
inserted disease: 157900 OMIM MOEBIUS SYNDROME
id in db is: 291910
inserted disease: 165590 OMIM OROFACIODIGITAL SYNDROME X
id in db is: 291911
inserted disease: 2057 ORPHA Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
id in db is: 291912
inserted disease: 107700 OMIM APPENDICITIS, PRONENESS TO
id in db is: 291913
inserted disease: 100050 OMIM 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
id in db is: 291914
inserted disease: 231720 ORPHA Non-acquired combined pituitary hormone deficiency with spine abnormalities
id in db is: 291915
inserted disease: 244850 OMIM KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE
id in db is: 291916
inserted disease: 613244 OMIM #613244 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8
id in db is: 291917
inserted disease: 52416 ORPHA Mantle cell lymphoma
id in db is: 291918
inserted disease: 603553 OMIM #603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2;;HPLH2;;HLH2
id in db is: 291919
inserted disease: 33574 ORPHA Gamma-glutamylcysteine synthetase deficiency
id in db is: 291920
inserted disease: 125800 OMIM DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
id in db is: 291921
inserted disease: 3085 ORPHA Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
id in db is: 291922
inserted disease: 615726 OMIM #615726 PACHYONYCHIA CONGENITA 3; PC3
id in db is: 291923
inserted disease: 1647 ORPHA Oculocerebrocutaneous syndrome
id in db is: 291924
inserted disease: 81 DECIPHER 15q26 overgrowth syndrome
id in db is: 291925
inserted disease: 101850 OMIM ACROKERATOELASTOIDOSIS
id in db is: 291926
inserted disease: 600705 OMIM 600705 SATOYOSHI SYNDROME;;KOMURAGAERI DISEASE;;MUSCLE SPASMS, INTERMITTENT, WITH ALOPECIA, DIARRHEA, AND SKELETALABNORMALITIES
id in db is: 291927
inserted disease: 601700 OMIM SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE
id in db is: 291928
inserted disease: 2233 ORPHA Hypogonadism-mitral valve prolapse-intellectual disability syndrome
id in db is: 291929
inserted disease: 1766 ORPHA Dysequilibrium syndrome
id in db is: 291930
inserted disease: 2846 ORPHA Congenital pericardium anomaly
id in db is: 291931
inserted disease: 2690 ORPHA Neutropenia-monocytopenia-deafness syndrome
id in db is: 291932
inserted disease: 268200 OMIM RHABDOMYOLYSIS, ACUTE RECURRENT
id in db is: 291933
inserted disease: 124500 OMIM DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OFFINGERS AND TOES
id in db is: 291934
inserted disease: 613390 OMIM #613390 FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO
id in db is: 291935
inserted disease: 267500 OMIM RETICULAR DYSGENESIA
id in db is: 291936
inserted disease: 276950 OMIM #276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS;;VACTERL-HVATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED;;VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INCLUDED
id in db is: 291937
inserted disease: 613704 OMIM #613704 MICROPHTHALMIA, ISOLATED 7; MCOP7
id in db is: 291938
inserted disease: 254200 OMIM 254200 MYASTHENIA GRAVIS; MG
id in db is: 291939
inserted disease: 208050 OMIM #208050 ARTERIAL TORTUOSITY SYNDROME; ATS;;ARTERIAL TORTUOSITY
id in db is: 291940
inserted disease: 124020 OMIM CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19
id in db is: 291941
inserted disease: 157 ORPHA Carnitine palmitoyltransferase II deficiency
id in db is: 291942
inserted disease: 894 ORPHA Waardenburg syndrome type 1
id in db is: 291943
inserted disease: 614416 OMIM #614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES;RHFCA
id in db is: 291944
inserted disease: 191 ORPHA Cockayne syndrome
id in db is: 291945
inserted disease: 238750 ORPHA 4q21 microdeletion syndrome
id in db is: 291946
inserted disease: 245400 OMIM #245400 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITHMETHYLMALONIC ACIDURIA); MTDPS9;;LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY
id in db is: 291947
inserted disease: 147920 OMIM #147920 KABUKI SYNDROME 1; KABUK1;;KABUKI SYNDROME;;KABUKI MAKE-UP SYNDROME; KMS;;NIIKAWA-KUROKI SYNDROME
id in db is: 291948
inserted disease: 601427 OMIM ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS
id in db is: 291949
inserted disease: 67047 ORPHA 3-methylglutaconic aciduria type 3
id in db is: 291950
inserted disease: 147300 OMIM INCISORS, LONG UPPER CENTRAL
id in db is: 291951
inserted disease: 3137 ORPHA Alpha-N-acetylgalactosaminidase deficiency
id in db is: 291952
inserted disease: 606263 OMIM PAGET DISEASE OF BONE 4; PDB4
id in db is: 291953
inserted disease: 175400 OMIM POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE
id in db is: 291954
inserted disease: 129840 OMIM EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL
id in db is: 291955
inserted disease: 155145 OMIM CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA
id in db is: 291956
inserted disease: 2091 ORPHA Multinodular goiter-cystic kidney-polydactyly syndrome
id in db is: 291957
inserted disease: 611523 OMIM #611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6;;ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAINDEFECTS
id in db is: 291958
inserted disease: 245550 OMIM LAMBERT SYNDROME
id in db is: 291959
inserted disease: 166011 ORPHA Multiple epiphyseal dysplasia, Beighton type
id in db is: 291960
inserted disease: 66637 ORPHA Diaphanospondylodysostosis
id in db is: 291961
inserted disease: 2062 ORPHA Progressive non-infectious anterior vertebral fusion
id in db is: 291962
inserted disease: 608115 OMIM OVARIAN HYPERSTIMULATION SYNDROME
id in db is: 291963
inserted disease: 614096 OMIM #614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8;;CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE
id in db is: 291964
inserted disease: 231154 ORPHA Combined immunodeficiency due to partial RAG1 deficiency
id in db is: 291965
inserted disease: 613886 OMIM #613886 OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY
id in db is: 291966
inserted disease: 182980 OMIM SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANTSPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, INCLUDED
id in db is: 291967
inserted disease: 612225 OMIM #612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9
id in db is: 291968
inserted disease: 190800 OMIM TRISTICHIASIS
id in db is: 291969
inserted disease: 613708 OMIM NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D
id in db is: 291970
inserted disease: 606159 OMIM #606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3;;NEUROFERRITINOPATHY;;BASAL GANGLIA DISEASE, ADULT-ONSET
id in db is: 291971
inserted disease: 246700 OMIM #246700 CHYLOMICRON RETENTION DISEASE; CMRD;;ANDERSON DISEASE; ANDD;;LIPID TRANSPORT DEFECT OF INTESTINE;;HYPOBETALIPOPROTEINEMIA WITH ACCUMULATION OF APOLIPOPROTEIN B-LIKEPROTEIN IN INTESTINAL CELLS
id in db is: 291972
inserted disease: 1856 ORPHA Spondyloperipheral dysplasia-short ulna syndrome
id in db is: 291973
inserted disease: 109270 OMIM SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1
id in db is: 291974
inserted disease: 615118 OMIM %615118 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD
id in db is: 291975
inserted disease: 611543 OMIM #611543 CAVITARY OPTIC DISC ANOMALIES; CODA
id in db is: 291976
inserted disease: 1034 ORPHA Amniotic bands
id in db is: 291977
inserted disease: 245570 OMIM LANDAU-KLEFFNER SYNDROME
id in db is: 291978
inserted disease: 281127 ORPHA Acral self-healing collodion baby
id in db is: 291979
inserted disease: 618 ORPHA Familial melanoma
id in db is: 291980
inserted disease: 236100 OMIM HOLOPROSENCEPHALY
id in db is: 291981
inserted disease: 300778 OMIM %300778 CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD;;LISCH EPITHELIAL CORNEAL DYSTROPHY;;BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY
id in db is: 291982
inserted disease: 99819 ORPHA Familial gestational hyperthyroidism
id in db is: 291983
inserted disease: 2318 ORPHA Joubert syndrome with oculorenal defect
id in db is: 291984
inserted disease: 418 ORPHA Congenital adrenal hyperplasia
id in db is: 291985
inserted disease: 188700 OMIM TIBIA VARA
id in db is: 291986
inserted disease: 602723 OMIM PSORIASIS 2; PSORS2
id in db is: 291987
inserted disease: 615071 OMIM #615071 ALAZAMI SYNDROME; ALAZS;;FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM
id in db is: 291988
inserted disease: 204000 OMIM LEBER CONGENITAL AMAUROSIS, TYPE I
id in db is: 291989
inserted disease: 220120 OMIM #220120 D-GLYCERIC ACIDURIA;;D-GLYCERIC ACIDEMIA;;GLYCERATE KINASE DEFICIENCY
id in db is: 291990
inserted disease: 300882 OMIM CORNELIA DE LANGE SYNDROME 5; CDLS5
id in db is: 291991
inserted disease: 616221 OMIM #616221 AMELOGENESIS IMPERFECTA, TYPE IH; AI1H
id in db is: 291992
inserted disease: 606438 OMIM HUNTINGTON DISEASE-LIKE 2
id in db is: 291993
inserted disease: 110050 OMIM BLEPHARONASOFACIAL MALFORMATION SYNDROME
id in db is: 291994
inserted disease: 2228 ORPHA Hypodontia-dysplasia of nails syndrome
id in db is: 291995
inserted disease: 615896 OMIM HYPOTRICHOSIS 13; HYPT13
id in db is: 291996
inserted disease: 156600 OMIM #156600 MICROCORIA, CONGENITAL;;CHROMOSOME 13q32 DELETION SYNDROME;;MCOR;;MIOSIS, CONGENITAL
id in db is: 291997
inserted disease: 176860 OMIM THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMALDOMINANT
id in db is: 291998
inserted disease: 609284 OMIM NEMALINE MYOPATHY 1; NEM1
id in db is: 291999
inserted disease: 237900 OMIM HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATALBREASTFEEDING JAUNDICE, INCLUDED
id in db is: 292000
inserted disease: 79474 ORPHA Atypical Werner syndrome
id in db is: 292001
inserted disease: 241550 OMIM HYPOPLASTIC LEFT HEART SYNDROME
id in db is: 292002
inserted disease: 615888 OMIM BLEEDING DISORDER, PLATELET-TYPE, 18; BDPLT18
id in db is: 292003
inserted disease: 601419 OMIM #601419 MYOPATHY, MYOFIBRILLAR, 1; MFM1;;MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED;;DESMINOPATHY, PRIMARY;;DESMIN-RELATED MYOPATHY; DRM;;INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY; IBM1, FORMERLY;;CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE1D, FORMERLY;;CMD1F AND LGMD1D, FORMERLY;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY;CDCD3, FORMERLY
id in db is: 292004
inserted disease: 3218 ORPHA Deafness-epiphyseal dysplasia-short stature syndrome
id in db is: 292005
inserted disease: 180800 OMIM ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
id in db is: 292006
inserted disease: 268220 OMIM RHABDOMYOSARCOMA 2
id in db is: 292007
inserted disease: 610536 OMIM MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA
id in db is: 292008
inserted disease: 604273 OMIM ATPASE DEFICIENCY, NUCLEAR-ENCODED
id in db is: 292009
inserted disease: 211920 OMIM 211920 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II
id in db is: 292010
inserted disease: 1923 ORPHA Methimazole embryofetopathy
id in db is: 292011
inserted disease: 2585 ORPHA Ataxia-pancytopenia syndrome
id in db is: 292012
inserted disease: 615083 OMIM #615083 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12;;COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24
id in db is: 292013
inserted disease: 932 ORPHA Achondrogenesis
id in db is: 292014
inserted disease: 300712 OMIM %300712 CRANIOFACIOSKELETAL SYNDROME
id in db is: 292015
inserted disease: 600269 OMIM SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES
id in db is: 292016
inserted disease: 614873 OMIM #614873 PEROXISOME BIOGENESIS DISORDER 7B; PBD7B
id in db is: 292017
inserted disease: 615439 OMIM #615439 MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13
id in db is: 292018
inserted disease: 615555 OMIM #615555 HYPERPROLACTINEMIA; HPRL
id in db is: 292019
inserted disease: 613224 OMIM #613224 NOONAN SYNDROME 6; NS6
id in db is: 292020
inserted disease: 1072 ORPHA Ankyloblepharon filiforme adnatum-cleft palate syndrome
id in db is: 292021
inserted disease: 435934 ORPHA COG2-CDG
id in db is: 292022
inserted disease: 400043 OMIM DEAFNESS, Y-LINKED 1
id in db is: 292023
inserted disease: 611876 OMIM #611876 BRUGADA SYNDROME 4; BRGDA4
id in db is: 292024
inserted disease: 615222 OMIM #615222 SMITH-MCCORT DYSPLASIA 2; SMC2
id in db is: 292025
inserted disease: 171839 ORPHA Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
id in db is: 292026
inserted disease: 263650 OMIM #263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE;;BARTSOCAS-PAPAS SYNDROME; BPS;;PTERYGIUM, POPLITEAL, LETHAL TYPE;;MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE
id in db is: 292027
inserted disease: 603278 OMIM #603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1;;GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1
id in db is: 292028
inserted disease: 192350 OMIM #192350 VATER ASSOCIATIONVACTERL ASSOCIATION, INCLUDED
id in db is: 292029
inserted disease: 300700 OMIM %300700 ALBINISM-DEAFNESS SYNDROME; ADFN;;ALDS
id in db is: 292030
inserted disease: 604416 OMIM PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
id in db is: 292031
inserted disease: 222730 OMIM DICARBOXYLICAMINO ACIDURIA
id in db is: 292032
inserted disease: 151430 OMIM B-CELL CLL/LYMPHOMA 2
id in db is: 292033
inserted disease: 613108 OMIM #613108 CANDIDIASIS, FAMILIAL, 4; CANDF4;;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS
id in db is: 292034
inserted disease: 613990 OMIM #613990 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; DKCA3
id in db is: 292035
inserted disease: 614889 OMIM IMMUNODEFICIENCY 28; IMD28
id in db is: 292036
inserted disease: 138040 OMIM GLUCOCORTICOID RECEPTOR
id in db is: 292037
inserted disease: 447 ORPHA Paroxysmal nocturnal hemoglobinuria
id in db is: 292038
inserted disease: 616117 OMIM #616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY;CCDD
id in db is: 292039
inserted disease: 500009 OMIM #500009 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT;;MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAINDEFICIENCY;;COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT;;RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
id in db is: 292040
inserted disease: 560000 OMIM #560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA
id in db is: 292041
inserted disease: 256840 OMIM NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL
id in db is: 292042
inserted disease: 260970 OMIM PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND
id in db is: 292043
inserted disease: 27 ORPHA Vitamin B12-unresponsive methylmalonic acidemia
id in db is: 292044
inserted disease: 260950 OMIM PERIODONTITIS, CHRONIC
id in db is: 292045
inserted disease: 144150 OMIM HYPERKERATOSIS LENTICULARIS PERSTANS
id in db is: 292046
inserted disease: 1752 ORPHA Trisomy 8q
id in db is: 292047
inserted disease: 1956 ORPHA Erythromelalgia
id in db is: 292048
inserted disease: 190330 OMIM TRICHOMEGALY; TCMGLY
id in db is: 292049
inserted disease: 247410 OMIM LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME
id in db is: 292050
inserted disease: 614408 OMIM #614408 MYOPATHY, CENTRONUCLEAR, 3; CNM3
id in db is: 292051
inserted disease: 68 DECIPHER 16p11.2-p12.2 microdeletion syndrome
id in db is: 292052
inserted disease: 109720 OMIM BILIARY CIRRHOSIS, PRIMARY
id in db is: 292053
inserted disease: 256860 OMIM NEUROPATHY, HEREDITARY SENSORY, ATYPICAL
id in db is: 292054
inserted disease: 605583 OMIM #605583 DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25
id in db is: 292055
inserted disease: 616080 OMIM MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE; MCPH12
id in db is: 292056
inserted disease: 603116 OMIM %603116 CDAGS SYNDROME;;CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS;;CAP SYNDROME
id in db is: 292057
inserted disease: 158681 ORPHA Epidermolysis bullosa simplex with circinate migratory erythema
id in db is: 292058
inserted disease: 172850 OMIM PIEBALD TRAIT WITH NEUROLOGIC DEFECTS
id in db is: 292059
inserted disease: 614418 OMIM #614418 FEBRILE SEIZURES, FAMILIAL, 11; FEB11;;CONVULSIONS, FAMILIAL FEBRILE, 11
id in db is: 292060
inserted disease: 613073 OMIM #613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2
id in db is: 292061
inserted disease: 182830 OMIM SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA
id in db is: 292062
inserted disease: 264350 OMIM #264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B;;PHA I, AUTOSOMAL RECESSIVE
id in db is: 292063
inserted disease: 163400 OMIM NIEVERGELT SYNDROME
id in db is: 292064
inserted disease: 312700 OMIM RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
id in db is: 292065
inserted disease: 608456 OMIM #608456 FAMILIAL ADENOMATOUS POLYPOSIS, 2; FAP2;;COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE;;ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE
id in db is: 292066
inserted disease: 215300 OMIM #215300 CHONDROSARCOMA
id in db is: 292067
inserted disease: 127200 OMIM 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES;;MOORE-FEDERMAN SYNDROME
id in db is: 292068
inserted disease: 300423 OMIM #300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH;;MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; MRXE
id in db is: 292069
inserted disease: 262 ORPHA Duchenne and Becker muscular dystrophy
id in db is: 292070
inserted disease: 637 ORPHA Neurofibromatosis type 2
id in db is: 292071
inserted disease: 99748 ORPHA Pontiac fever
id in db is: 292072
inserted disease: 615419 OMIM #615419 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTICFACIES; IHPRF
id in db is: 292073
inserted disease: 614899 OMIM #614899 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
id in db is: 292074
inserted disease: 131300 OMIM #131300 CAMURATI-ENGELMANN DISEASE; CAEND;;CED;;ENGELMANN DISEASE;;DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;;PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD
id in db is: 292075
inserted disease: 1514 ORPHA Craniodigital syndrome-intellectual disability syndrome
id in db is: 292076
inserted disease: 159300 OMIM MUSICAL PERFECT PITCH
id in db is: 292077
inserted disease: 190320 OMIM TRICHODENTOOSSEOUS SYNDROME
id in db is: 292078
inserted disease: 604117 OMIM VOHWINKEL SYNDROME, VARIANT FORM
id in db is: 292079
inserted disease: 211900 OMIM #211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC;;CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA;;TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC; PHPTC;;LIPOCALCINOGRANULOMATOSIS;;TEUTSCHLAENDER DISEASE, FAMILIAL;;MORBUS TEUTSCHLAENDER;;HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS;;HYPEROSTOSIS WITH HYPERPHOSPHATEMIA;;CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA
id in db is: 292080
inserted disease: 614863 OMIM #614863 PEROXISOME BIOGENESIS DISORDER 4B; PBD4B
id in db is: 292081
inserted disease: 200170 OMIM ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT
id in db is: 292082
inserted disease: 612867 OMIM 612867 CORNEAL DYSTROPHY, SUBEPITHELIAL MUCINOUS; SMCD;;SUBEPITHELIAL MUCINOUS CORNEAL DYSTROPHY
id in db is: 292083
inserted disease: 241530 OMIM #241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH;;HYPERCALCIURIC RICKETS
id in db is: 292084
inserted disease: 200150 OMIM #200150 CHOREOACANTHOCYTOSIS; CHAC;;LEVINE-CRITCHLEY SYNDROME;;ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER;;NEUROACANTHOCYTOSIS;;CHOREA-ACANTHOCYTOSIS
id in db is: 292085
inserted disease: 2010 ORPHA Cleft palate-stapes fixation-oligodontia syndrome
id in db is: 292086
inserted disease: 312870 OMIM #312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1;;SGBS;;BULLDOG SYNDROME;;DYSPLASIA GIGANTISM SYNDROME, X-LINKED; DGSX;;GOLABI-ROSEN SYNDROME;;SIMPSON DYSMORPHIA SYNDROME; SDYS
id in db is: 292087
inserted disease: 145001 OMIM HYPERPARATHYROIDISM 2
id in db is: 292088
inserted disease: 180350 OMIM RHEUMATOID NODULOSIS
id in db is: 292089
inserted disease: 61 ORPHA Alpha-mannosidosis
id in db is: 292090
inserted disease: 224750 OMIM #224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS;;KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS;;ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA
id in db is: 292091
inserted disease: 238459 ORPHA SLC35A1-CDG
id in db is: 292092
inserted disease: 192800 OMIM VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS
id in db is: 292093
inserted disease: 808 ORPHA Seckel syndrome
id in db is: 292094
inserted disease: 671 ORPHA Primary cutis verticis gyrata
id in db is: 292095
inserted disease: 312860 OMIM CRANIODIGITAL SYNDROME - INTELLECTUAL DISABILITY
id in db is: 292096
inserted disease: 265050 OMIM #265050 3MC SYNDROME 2; 3MC2;;PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA;;OCULO-SKELETAL-ABDOMINAL SYNDROME;;OSA SYNDROME;;CARNEVALE SYNDROME, FORMERLY
id in db is: 292097
inserted disease: 602540 OMIM #602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS;;HID SYNDROME
id in db is: 292098
inserted disease: 182820 OMIM SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY
id in db is: 292099
inserted disease: 239900 OMIM HYPERTROPHIC NEUROPATHY AND CATARACT
id in db is: 292100
inserted disease: 281 ORPHA Monosomy 5p
id in db is: 292101
inserted disease: 607595 OMIM #607595 BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES;;BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE;;INFANTILE HEMIPARESIS;;RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY,AUTOSOMAL DOMINANT;;BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY;;LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
id in db is: 292102
inserted disease: 276800 OMIM TYROSINOSIS
id in db is: 292103
inserted disease: 170390 OMIM ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
id in db is: 292104
inserted disease: 612520 OMIM #612520 DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
id in db is: 292105
inserted disease: 126500 OMIM DOUBLE NAIL FOR FIFTH TOE
id in db is: 292106
inserted disease: 615429 OMIM #615429 DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88
id in db is: 292107
inserted disease: 220402 ORPHA Limited cutaneous systemic sclerosis
id in db is: 292108
inserted disease: 613093 OMIM #613093 CONE DYSTROPHY 4; COD4ACHROMATOPSIA 5, INCLUDED; ACHM5, INCLUDED
id in db is: 292109
inserted disease: 295 ORPHA Fetal parvovirus syndrome
id in db is: 292110
inserted disease: 308750 OMIM KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA
id in db is: 292111
inserted disease: 155900 OMIM MELKERSSON-ROSENTHAL SYNDROME
id in db is: 292112
inserted disease: 218000 OMIM #218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN;;CHARLEVOIX DISEASE;;ANDERMANN SYNDROME;;POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUSCALLOSUM;;CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY
id in db is: 292113
inserted disease: 615266 OMIM HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17
id in db is: 292114
inserted disease: 889 ORPHA Cutaneous leukocytoclastic angiitis
id in db is: 292115
inserted disease: 93946 ORPHA Hamel cerebro-palato-cardiac syndrome
id in db is: 292116
inserted disease: 613728 OMIM #613728 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10
id in db is: 292117
inserted disease: 209970 OMIM BEEMER LETHAL MALFORMATION SYNDROME
id in db is: 292118
inserted disease: 602092 OMIM DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18
id in db is: 292119
inserted disease: 140908 ORPHA Brachydactyly type B2
id in db is: 292120
inserted disease: 1908 ORPHA Aminopterin/methotrexate embryofetopathy
id in db is: 292121
inserted disease: 93352 ORPHA Spondyloepimetaphyseal dysplasia, Shohat type
id in db is: 292122
inserted disease: 85199 ORPHA Craniosynostosis-anal anomalies-porokeratosis syndrome
id in db is: 292123
inserted disease: 614588 OMIM DYSTONIA 21; DYT21
id in db is: 292124
inserted disease: 248100 OMIM 248100 MACROSOMIA ADIPOSA CONGENITA
id in db is: 292125
inserted disease: 613718 OMIM #613718 DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74
id in db is: 292126
inserted disease: 215480 OMIM 215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION
id in db is: 292127
inserted disease: 499 ORPHA Kerion celsi
id in db is: 292128
inserted disease: 254346 ORPHA 19p13.12 microdeletion syndrome
id in db is: 292129
inserted disease: 616277 OMIM MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D
id in db is: 292130
inserted disease: 260800 OMIM PENTOSURIA
id in db is: 292131
inserted disease: 300260 OMIM #300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL;;MECP2 DUPLICATION SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE;;MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS
id in db is: 292132
inserted disease: 606721 OMIM #606721 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME; LCCNS;;LIPODYSTROPHY, PARTIAL, WITH CONGENITAL CATARACTS AND NEURODEGENERATION
id in db is: 292133
inserted disease: 3389 ORPHA Tuberculosis
id in db is: 292134
inserted disease: 608149 OMIM KAGAMI-OGATA SYNDROME
id in db is: 292135
inserted disease: 612269 OMIM #612269 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5
id in db is: 292136
inserted disease: 79241 ORPHA Biotinidase deficiency
id in db is: 292137
inserted disease: 223900 OMIM #223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3;;HSAN III;;DYSAUTONOMIA, FAMILIAL; DYS; FD;;RILEY-DAY SYNDROME
id in db is: 292138
inserted disease: 605724 OMIM #605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1;;FAD1
id in db is: 292139
inserted disease: 609136 OMIM #609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURGSYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH;;WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT
id in db is: 292140
inserted disease: 214 ORPHA Cystinuria
id in db is: 292141
inserted disease: 611820 OMIM #611820 LONG QT SYNDROME 11; LQT11
id in db is: 292142
inserted disease: 254210 OMIM MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6
id in db is: 292143
inserted disease: 311895 OMIM 311895 PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES
id in db is: 292144
inserted disease: 615589 OMIM %615589 OTOSCLEROSIS 10; OTSC10
id in db is: 292145
inserted disease: 2076 ORPHA X-linked intellectual disability-epilepsy syndrome
id in db is: 292146
inserted disease: 134000 OMIM FACIAL HYPERTRICHOSIS
id in db is: 292147
inserted disease: 257550 OMIM OCULAR MOTOR APRAXIA
id in db is: 292148
inserted disease: 177735 OMIM #177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A;;PHA I, AUTOSOMAL DOMINANT
id in db is: 292149
inserted disease: 609260 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2
id in db is: 292150
inserted disease: 612717 OMIM MYOPIA 15; MYP15
id in db is: 292151
inserted disease: 2965 ORPHA Prolactinoma
id in db is: 292152
inserted disease: 236730 OMIM UROFACIAL SYNDROME
id in db is: 292153
inserted disease: 48652 ORPHA Monosomy 22q13
id in db is: 292154
inserted disease: 304100 OMIM CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
id in db is: 292155
inserted disease: 225450 OMIM ELLIPTOCYTOSIS, ATYPICAL
id in db is: 292156
inserted disease: 69061 ORPHA Idiopathic steroid-sensitive nephrotic syndrome
id in db is: 292157
inserted disease: 600082 OMIM PROSTATIC HYPERPLASIA, BENIGN
id in db is: 292158
inserted disease: 609939 OMIM %609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6
id in db is: 292159
inserted disease: 278800 OMIM DE SANCTIS-CACCHIONE SYNDROME
id in db is: 292160
inserted disease: 614257 OMIM #614257 MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11
id in db is: 292161
inserted disease: 271620 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION
id in db is: 292162
inserted disease: 613370 OMIM #613370 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
id in db is: 292163
inserted disease: 1533 ORPHA Craniosynostosis-fibular aplasia syndrome
id in db is: 292164
inserted disease: 614739 OMIM 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL
id in db is: 292165
inserted disease: 1067 ORPHA Aniridia-ptosis-intellectual disability-familial obesity syndrome
id in db is: 292166
inserted disease: 176250 OMIM POSTERIOR COLUMN ATAXIA
id in db is: 292167
inserted disease: 611718 OMIM #611718 HYPOMAGNESEMIA 4, RENAL; HOMG4;;HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
id in db is: 292168
inserted disease: 176240 OMIM POSTAXIAL OLIGODACTYLY, TETRAMELIC
id in db is: 292169
inserted disease: 85408 ORPHA Juvenile rheumatoid factor-negative polyarthritis
id in db is: 292170
inserted disease: 600080 OMIM MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC
id in db is: 292171
inserted disease: 614255 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9
id in db is: 292172
inserted disease: 1581 ORPHA Non-distal monosomy 10q
id in db is: 292173
inserted disease: 271630 OMIM %271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE;;SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE;;SED, CHONDROITIN SULFATE TYPE;;PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY
id in db is: 292174
inserted disease: 164100 OMIM %164100 NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2;;NYSTAGMUS, CONGENITAL MOTOR, 2
id in db is: 292175
inserted disease: 616267 OMIM ATAXIA-OCULOMOTOR APRAXIA 4; AOA4
id in db is: 292176
inserted disease: 220100 OMIM #220100 CYSTINURIA;;CSNU;;CYSTINURIA, TYPE I, FORMERLY; CSNU1, FORMERLY;;CYSTINURIA, TYPE II, FORMERLY;;CYSTINURIA, TYPE III, FORMERLY; CSNU3, FORMERLY;;CYSTINURIA, TYPE NON-I, FORMERLYCYSTINURIA, TYPE A, INCLUDED;;CYSTINURIA, TYPE B, INCLUDED;;CYSTINURIA, TYPE A/B, INCLUDED
id in db is: 292177
inserted disease: 606711 OMIM SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1
id in db is: 292178
inserted disease: 261304 ORPHA Paternal 20q13.2q13.3 microdeletion syndrome
id in db is: 292179
inserted disease: 179400 OMIM RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE
id in db is: 292180
inserted disease: 612690 OMIM #612690 SPHEROCYTOSIS, TYPE 5; SPH5;;SPHEROCYTOSIS, HEREDITARY, 5; HS5
id in db is: 292181
inserted disease: 615599 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40
id in db is: 292182
inserted disease: 610247 OMIM %610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1;;ESOPHAGITIS, EOSINOPHILIC; EE
id in db is: 292183
inserted disease: 3204 ORPHA Stormorken-Sjaastad-Langslet syndrome
id in db is: 292184
inserted disease: 90791 ORPHA Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
id in db is: 292185
inserted disease: 615268 OMIM #615268 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4; CAMRQ4;;CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDALLOCOMOTION 4
id in db is: 292186
inserted disease: 180360 OMIM RHINY
id in db is: 292187
inserted disease: 90653 ORPHA Stickler syndrome type 1
id in db is: 292188
inserted disease: 452 ORPHA X-linked lissencephaly with abnormal genitalia
id in db is: 292189
inserted disease: 742 ORPHA Prolidase deficiency
id in db is: 292190
inserted disease: 49827 ORPHA Thiamine-responsive megaloblastic anemia syndrome
id in db is: 292191
inserted disease: 2471 ORPHA McDonough syndrome
id in db is: 292192
inserted disease: 2200 ORPHA Focal palmoplantar and gingival keratoderma
id in db is: 292193
inserted disease: 93333 ORPHA Pelviscapular dysplasia
id in db is: 292194
inserted disease: 611878 OMIM #611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y
id in db is: 292195
inserted disease: 615716 OMIM HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4
id in db is: 292196
inserted disease: 275190 OMIM TIGLIC ACIDEMIA
id in db is: 292197
inserted disease: 602562 OMIM MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA
id in db is: 292198
inserted disease: 65286 ORPHA 3q29 microdeletion syndrome
id in db is: 292199
inserted disease: 217385 ORPHA 17p13.3 microduplication syndrome
id in db is: 292200
inserted disease: 128235 OMIM DYSTONIA 12
id in db is: 292201
inserted disease: 861 ORPHA Treacher-Collins syndrome
id in db is: 292202
inserted disease: 2523 ORPHA Microcephaly-brain defect-spasticity-hypernatremia syndrome
id in db is: 292203
inserted disease: 1053 ORPHA Vein of Galen aneurysm
id in db is: 292204
inserted disease: 3152 ORPHA Sclerosteosis
id in db is: 292205
inserted disease: 146160 OMIM HYPOMELIA WITH MULLERIAN DUCT ANOMALIES
id in db is: 292206
inserted disease: 228384 ORPHA 5q14.3 microdeletion syndrome
id in db is: 292207
inserted disease: 85166 ORPHA Platyspondylic dysplasia, Torrance type
id in db is: 292208
inserted disease: 248260 OMIM MAGNESIUM, ELEVATED RED CELL
id in db is: 292209
inserted disease: 615541 OMIM #615541 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39; MRT39
id in db is: 292210
inserted disease: 2590 ORPHA Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
id in db is: 292211
inserted disease: 1942 ORPHA Myoclonic-astastic epilepsy
id in db is: 292212
inserted disease: 300262 OMIM X-LINKED INTELLECTUAL DISABILITY, ABIDI TYPE
id in db is: 292213
inserted disease: 615278 OMIM #615278 CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2
id in db is: 292214
inserted disease: 268210 OMIM RHABDOMYOSARCOMA 1
id in db is: 292215
inserted disease: 607459 OMIM #607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO;;SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMALRECESSIVESPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED
id in db is: 292216
inserted disease: 147791 OMIM #147791 JACOBSEN SYNDROME; JBS;;CHROMOSOME 11q DELETION SYNDROME;;PARTIAL 11q MONOSOMY SYNDROME
id in db is: 292217
inserted disease: 115210 OMIM CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
id in db is: 292218
inserted disease: 1376 ORPHA Congenital cataract-ichthyosis syndrome
id in db is: 292219
inserted disease: 609270 OMIM #609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7
id in db is: 292220
inserted disease: 176700 OMIM %176700 PROGNATHISM, MANDIBULAR;;'HABSBURG JAW';;'HAPSBURG JAW'
id in db is: 292221
inserted disease: 147480 OMIM #147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1;;CHOLESTASIS, PREGNANCY-RELATED, 1
id in db is: 292222
inserted disease: 1309 ORPHA Medullary sponge kidney
id in db is: 292223
inserted disease: 226600 OMIM #226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATAVARIANT, INCLUDED;;EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED
id in db is: 292224
inserted disease: 79084 ORPHA Familial partial lipodystrophy, Köbberling type
id in db is: 292225
inserted disease: 108721 OMIM #108721 ATELOSTEOGENESIS, TYPE III; AOIII;;AO3
id in db is: 292226
inserted disease: 94066 ORPHA Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
id in db is: 292227
inserted disease: 212140 OMIM #212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP;;SYSTEMIC CARNITINE DEFICIENCY; SCD;;CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTIONOF CARNITINE;;CARNITINE DEFICIENCY, PRIMARY;;CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF;;CARNITINE UPTAKE DEFECT; CUD
id in db is: 292228
inserted disease: 3033 ORPHA Renal tubular dysgenesis
id in db is: 292229
inserted disease: 600092 OMIM 600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME
id in db is: 292230
inserted disease: 157215 ORPHA Hereditary hypophosphatemic rickets with hypercalciuria
id in db is: 292231
inserted disease: 2894 ORPHA Pilotto syndrome
id in db is: 292232
inserted disease: 99734 ORPHA Myotonia fluctuans
id in db is: 292233
inserted disease: 259550 OMIM 259550 OSTEOID OSTEOMA
id in db is: 292234
inserted disease: 220110 OMIM MITOCHONDRIAL COMPLEX IV DEFICIENCY
id in db is: 292235
inserted disease: 612096 OMIM OTOSCLEROSIS 8; OTSC8
id in db is: 292236
inserted disease: 615577 OMIM IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10
id in db is: 292237
inserted disease: 100070 OMIM AORTIC ANEURYSM, ABDOMINAL
id in db is: 292238
inserted disease: 611521 OMIM #611521 IMMUNODEFICIENCY 35; IMD35;;TYROSINE KINASE 2 DEFICIENCY;;TYK2 DEFICIENCY;;HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
id in db is: 292239
inserted disease: 613095 OMIM #613095 POLYCYSTIC KIDNEY DISEASE 2; PKD2;;POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II; APKD2
id in db is: 292240
inserted disease: 614391 OMIM #614391 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3; RPRGL3
id in db is: 292241
inserted disease: 616428 OMIM MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10
id in db is: 292242
inserted disease: 603585 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF
id in db is: 292243
inserted disease: 150270 OMIM LARYNGEAL ADDUCTOR PARALYSIS
id in db is: 292244
inserted disease: 101840 OMIM ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT
id in db is: 292245
inserted disease: 616289 OMIM OPTIC ATROPHY 9; OPA9
id in db is: 292246
inserted disease: 132000 OMIM #132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN ANDDEFORMITY OF NAILS;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
id in db is: 292247
inserted disease: 314250 OMIM DYSTONIA 3, TORSION, X-LINKED
id in db is: 292248
inserted disease: 142945 OMIM #142945 HOLOPROSENCEPHALY 3; HPE3;;HLP3
id in db is: 292249
inserted disease: 304110 OMIM CRANIOFRONTONASAL SYNDROME
id in db is: 292250
inserted disease: 32960 ORPHA Tumor necrosis factor receptor 1 associated periodic syndrome
id in db is: 292251
inserted disease: 217266 ORPHA BNAR syndrome
id in db is: 292252
inserted disease: 261650 OMIM PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL
id in db is: 292253
inserted disease: 160700 OMIM %160700 MYOPIA 2, AUTOSOMAL DOMINANT; MYP2
id in db is: 292254
inserted disease: 613071 OMIM BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3
id in db is: 292255
inserted disease: 182990 OMIM SPINAL INTRADURAL ARACHNOID CYSTS
id in db is: 292256
inserted disease: 262800 OMIM PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF
id in db is: 292257
inserted disease: 90363 ORPHA Secondary intestinal lymphangiectasia
id in db is: 292258
inserted disease: 615704 OMIM POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP
id in db is: 292259
inserted disease: 178475 ORPHA Wound botulism
id in db is: 292260
inserted disease: 215470 OMIM #215470 BOUCHER-NEUHAUSER SYNDROME; BNHS;;SPINOCEREBELLAR ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, AND CHORIORETINALDYSTROPHY
id in db is: 292261
inserted disease: 304730 OMIM DERMOIDS OF CORNEA
id in db is: 292262
inserted disease: 313906 ORPHA Congenital pancreatic cyst
id in db is: 292263
inserted disease: 234100 OMIM %234100 HALLERMANN-STREIFF SYNDROME; HSS;;FRANCOIS DYSCEPHALIC SYNDROME
id in db is: 292264
inserted disease: 616540 OMIM EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9
id in db is: 292265
inserted disease: 605909 OMIM PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
id in db is: 292266
inserted disease: 613876 OMIM #613876 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20
id in db is: 292267
inserted disease: 616564 OMIM NOONAN SYNDROME 10; NS10
id in db is: 292268
inserted disease: 218010 OMIM 218010 CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY
id in db is: 292269
inserted disease: 266200 OMIM PYRUVATE KINASE DEFICIENCY OF RED CELLS
id in db is: 292270
inserted disease: 236110 OMIM HOLZGREVE SYNDROME
id in db is: 292271
inserted disease: 399808 ORPHA Male infertility with teratozoospermia due to single gene mutation
id in db is: 292272
inserted disease: 261318 ORPHA Trisomy 20p
id in db is: 292273
inserted disease: 125350 OMIM DENTAL NONERUPTION
id in db is: 292274
inserted disease: 194350 OMIM %194350 WT LIMB-BLOOD SYNDROME
id in db is: 292275
inserted disease: 615565 OMIM #615565 RETINITIS PIGMENTOSA 67; RP67
id in db is: 292276
inserted disease: 107250 OMIM ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
id in db is: 292277
inserted disease: 615108 OMIM COWDEN SYNDROME 5; CWS5
id in db is: 292278
inserted disease: 148000 OMIM KAPOSI SARCOMA
id in db is: 292279
inserted disease: 1495 ORPHA Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
id in db is: 292280
inserted disease: 612877 OMIM #612877 CARDIOMYOPATHY, DILATED, 1BB; CMD1BB
id in db is: 292281
inserted disease: 435387 ORPHA Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
id in db is: 292282
inserted disease: 250999 ORPHA 1q41q42 microdeletion syndrome
id in db is: 292283
inserted disease: 129830 OMIM 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME;;ECP SYNDROME
id in db is: 292284
inserted disease: 913 ORPHA Zollinger-Ellison syndrome
id in db is: 292285
inserted disease: 241080 OMIM WOODHOUSE-SAKATI SYNDROME
id in db is: 292286
inserted disease: 615553 OMIM #615553 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS
id in db is: 292287
inserted disease: 182212 OMIM #182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS;;CRANIOSYNOSTOSIS WITH ARACHNODACTYLY AND ABDOMINAL HERNIAS;;MARFANOID DISORDER WITH CRANIOSYNOSTOSIS, TYPE I;;MARFANOID CRANIOSYNOSTOSIS SYNDROME
id in db is: 292288
inserted disease: 251019 ORPHA 2q32q33 microdeletion syndrome
id in db is: 292289
inserted disease: 35687 ORPHA Erdheim-Chester disease
id in db is: 292290
inserted disease: 201310 OMIM 201310 ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE
id in db is: 292291
inserted disease: 616231 OMIM MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA
id in db is: 292292
inserted disease: 211910 OMIM 211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1;;FACIOTHORACOSKELETAL SYNDROME; FTSS
id in db is: 292293
inserted disease: 50945 ORPHA Blomstrand lethal chondrodysplasia
id in db is: 292294
inserted disease: 614082 OMIM #614082 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
id in db is: 292295
inserted disease: 158600 OMIM #158600 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY, AUTOSOMAL DOMINANT; SMALED;;SMA-LED;;SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT;;SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT;;KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT
id in db is: 292296
inserted disease: 258860 OMIM #258860 OROFACIODIGITAL SYNDROME IV; OFD4;;OFDS IV;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV;;OFD SYNDROME WITH TIBIAL DEFECTS;;MOHR-MAJEWSKI SYNDROME;;OFD SYNDROME, BARAITSER-BURN TYPE;;BARAITSER-BURN SYNDROME
id in db is: 292297
inserted disease: 135950 OMIM FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE
id in db is: 292298
inserted disease: 614887 OMIM #614887 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP K, INCLUDED;CGK, INCLUDED
id in db is: 292299
inserted disease: 605274 OMIM MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE
id in db is: 292300
inserted disease: 500007 OMIM CYCLIC VOMITING SYNDROME; CVS
id in db is: 292301
inserted disease: 585 ORPHA Multiple sulfatase deficiency
id in db is: 292302
inserted disease: 615220 OMIM #615220 OSTEOGENESIS IMPERFECTA, TYPE XV; OI15;;OI, TYPE XV
id in db is: 292303
inserted disease: 207800 OMIM #207800 ARGININEMIA;;ARGINASE DEFICIENCY;;HYPERARGININEMIA;;ARG1 DEFICIENCY
id in db is: 292304
inserted disease: 615081 OMIM #615081 SPERMATOGENIC FAILURE 11; SPGF11
id in db is: 292305
inserted disease: 101078 ORPHA X-linked Charcot-Marie-Tooth disease type 4
id in db is: 292306
inserted disease: 1547 ORPHA Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
id in db is: 292307
inserted disease: 256850 OMIM #256850 GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1;;GAN
id in db is: 292308
inserted disease: 616222 OMIM TEMPLE SYNDROME
id in db is: 292309
inserted disease: 201250 OMIM ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
id in db is: 292310
inserted disease: 601319 OMIM ODONTOMICRONYCHIAL DYSPLASIA
id in db is: 292311
inserted disease: 616549 OMIM #616549 KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIALDYSMORPHISM; KFS4
id in db is: 292312
inserted disease: 603813 OMIM #603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH;;HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY; ARH1, FORMERLY;;FHCB1, FORMERLY;;HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY; ARH2, FORMERLY;;FHCB2, FORMERLY
id in db is: 292313
inserted disease: 616198 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23
id in db is: 292314
inserted disease: 1913 ORPHA Fetal trimethadione syndrome
id in db is: 292315
inserted disease: 125490 OMIM DENTINOGENESIS IMPERFECTA 1
id in db is: 292316
inserted disease: 179850 OMIM DOWLING-DEGOS DISEASE
id in db is: 292317
inserted disease: 132500 OMIM EPISTAXIS, HEREDITARY
id in db is: 292318
inserted disease: 220497 ORPHA Joubert syndrome with renal defect
id in db is: 292319
inserted disease: 425 ORPHA Apolipoprotein A-I deficiency
id in db is: 292320
inserted disease: 611376 OMIM MUNGAN SYNDROME
id in db is: 292321
inserted disease: 130190 OMIM ELECTROENCEPHALOGRAPHIC PATTERNS
id in db is: 292322
inserted disease: 305000 OMIM DYSKERATOSIS CONGENITA, X-LINKED; DKCX
id in db is: 292323
inserted disease: 312060 OMIM PROPERDIN DEFICIENCY, X-LINKED
id in db is: 292324
inserted disease: 144800 OMIM 144800 HYPEROSTOSIS FRONTALIS INTERNA;;MORGAGNI-STEWART-MOREL SYNDROME
id in db is: 292325
inserted disease: 848 ORPHA Beta-thalassemia
id in db is: 292326
inserted disease: 614614 OMIM #614614 DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B
id in db is: 292327
inserted disease: 103200 OMIM ADIPOSIS DOLOROSA
id in db is: 292328
inserted disease: 613268 OMIM #613268 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4;;CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
id in db is: 292329
inserted disease: 607671 OMIM DYSTONIA 13, TORSION
id in db is: 292330
inserted disease: 118430 OMIM CHLORPROPAMIDE-ALCOHOL FLUSHING
id in db is: 292331
inserted disease: 119000 OMIM CLEFT CHIN
id in db is: 292332
inserted disease: 122560 OMIM CORTICOTROPIN-RELEASING HORMONE
id in db is: 292333
inserted disease: 118005 OMIM CERVICAL VERTEBRAL DYSPLASIA
id in db is: 292334
inserted disease: 300615 OMIM BRUNNER SYNDROME
id in db is: 292335
inserted disease: 991 ORPHA PAGOD syndrome
id in db is: 292336
inserted disease: 243310 OMIM #243310 BARAITSER-WINTER SYNDROME 1; BRWS1;;IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION;;FRYNS-AFTIMOS SYNDROME;;PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES;;CEREBROOCULOFACIAL LYMPHATIC SYNDROME; COFLS;;MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES;;CEREBROFRONTOFACIAL SYNDROME
id in db is: 292337
inserted disease: 616155 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S
id in db is: 292338
inserted disease: 254 ORPHA Spondylometaphyseal dysplasia
id in db is: 292339
inserted disease: 206600 OMIM 206600 ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
id in db is: 292340
inserted disease: 300087 OMIM #300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1
id in db is: 292341
inserted disease: 99925 ORPHA Invasive mole
id in db is: 292342
inserted disease: 106240 OMIM ANISOCORIA
id in db is: 292343
inserted disease: 148300 OMIM #148300 KERATOCONUS 1; KTCN1
id in db is: 292344
inserted disease: 607313 OMIM GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
id in db is: 292345
inserted disease: 613158 OMIM #613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N; LGMD2N;;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED
id in db is: 292346
inserted disease: 228355 OMIM FETAL IODINE DEFICIENCY DISORDER
id in db is: 292347
inserted disease: 100100 ORPHA Thymic tumor
id in db is: 292348
inserted disease: 603285 OMIM #603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
id in db is: 292349
inserted disease: 614196 OMIM #614196 NEPHROTIC SYNDROME, TYPE 6; NPHS6
id in db is: 292350
inserted disease: 208850 OMIM ATAXIA-DEAFNESS-RETARDATION SYNDROME
id in db is: 292351
inserted disease: 3379 ORPHA Distal trisomy 17q
id in db is: 292352
inserted disease: 155601 OMIM MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
id in db is: 292353
inserted disease: 260200 OMIM PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA
id in db is: 292354
inserted disease: 2475 ORPHA White forelock with malformations
id in db is: 292355
inserted disease: 2612 ORPHA Linear nevus sebaceus syndrome
id in db is: 292356
inserted disease: 188050 OMIM THROMBOPHILIAVENOUS THROMBOEMBOLISM, INCLUDED
id in db is: 292357
inserted disease: 300438 OMIM #300438 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY;;HSD17B10 DEFICIENCY;;HSD10 DEFICIENCY;;3-@HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY;;2-@METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY;;MHBD DEFICIENCY
id in db is: 292358
inserted disease: 255500 OMIM MYOPIA, INFANTILE SEVERE
id in db is: 292359
inserted disease: 3311 ORPHA Infantile symmetrical thalamic degeneration
id in db is: 292360
inserted disease: 613509 OMIM CHROMOSOME 4q21 DELETION SYNDROME
id in db is: 292361
inserted disease: 614153 OMIM #614153 SPINOCEREBELLAR ATAXIA 36; SCA36
id in db is: 292362
inserted disease: 134750 OMIM FELTY SYNDROME
id in db is: 292363
inserted disease: 616045 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22
id in db is: 292364
inserted disease: 602782 OMIM #602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME;;HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC,AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;;HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS;;H SYNDROME;;PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS;PHID;;HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS;HJCD;;FAISALABAD HISTIOCYTOSIS;;ROSAI-DORFMAN DISEASE, FAMILIAL;;SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY; SHML
id in db is: 292365
inserted disease: 1387 ORPHA Cataract-intellectual disability-hypogonadism syndrome
id in db is: 292366
inserted disease: 127800 OMIM DYSPLASIA EPIPHYSEALIS HEMIMELICA
id in db is: 292367
inserted disease: 187370 OMIM %187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10;;CONGENITAL PLANTAR CONTRACTURES;;TENDO CALCANEUS, SHORT
id in db is: 292368
inserted disease: 85324 ORPHA X-linked intellectual disability, Shrimpton type
id in db is: 292369
inserted disease: 614504 OMIM #614504 USHER SYNDROME, TYPE IIIB; USH3B
id in db is: 292370
inserted disease: 615542 OMIM #615542 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD
id in db is: 292371
inserted disease: 615007 OMIM BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4
id in db is: 292372
inserted disease: 181400 OMIM SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
id in db is: 292373
inserted disease: 978 ORPHA ADULT syndrome
id in db is: 292374
inserted disease: 262890 OMIM #262890 SCOTT SYNDROME; SCTS;;BLEEDING DISORDER, PLATELET-TYPE, 7; BDPLT7;;BLEEDING ABNORMALITY DUE TO DEFICIENCY OF PLATELET BINDING OF FACTORX;;PROTHROMBIN CONVERSION DEFECT, FAMILIAL;;PROTHROMBIN CONSUMPTION DEFICIENCY;;PROTHROMBIN CONSUMPTION INHIBITOR, FAMILIAL
id in db is: 292375
inserted disease: 613115 OMIM NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B
id in db is: 292376
inserted disease: 615010 OMIM #615010 AICARDI-GOUTIERES SYNDROME 6; AGS6
id in db is: 292377
inserted disease: 677 ORPHA Pancreatoblastoma
id in db is: 292378
inserted disease: 85283 ORPHA X-linked intellectual disability, Miles-Carpenter type
id in db is: 292379
inserted disease: 102520 OMIM ACRORENAL SYNDROME
id in db is: 292380
inserted disease: 193700 OMIM #193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA
id in db is: 292381
inserted disease: 614483 OMIM #614483 PORENCEPHALY 2; POREN2
id in db is: 292382
inserted disease: 384 ORPHA Palmoplantar keratoderma-sclerodactyly syndrome
id in db is: 292383
inserted disease: 261204 ORPHA 16p11.2p12.2 microduplication syndrome
id in db is: 292384
inserted disease: 1571 ORPHA Knobloch syndrome
id in db is: 292385
inserted disease: 301830 OMIM #301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2;;SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;;SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;;AMC, DISTAL, X-LINKED;;ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1
id in db is: 292386
inserted disease: 97285 ORPHA Thyroid lymphoma
id in db is: 292387
inserted disease: 71 ORPHA Chylomicron retention disease
id in db is: 292388
inserted disease: 616439 OMIM FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4
id in db is: 292389
inserted disease: 1135 ORPHA Arrhinia-choanal atresia-microphthalmia syndrome
id in db is: 292390
inserted disease: 1182 ORPHA Spastic ataxia with congenital miosis
id in db is: 292391
inserted disease: 267800 OMIM 267800 RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE
id in db is: 292392
inserted disease: 610448 OMIM CHILBLAIN LUPUS
id in db is: 292393
inserted disease: 271930 OMIM #271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI;;INFANTILE BILATERAL STRIATAL NECROSIS; IBSN;;BILATERAL STRIATAL NECROSIS, INFANTILE;;STRIATAL DEGENERATION, FAMILIAL
id in db is: 292394
inserted disease: 165300 OMIM #165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3;;OPA3, AUTOSOMAL DOMINANT;;OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
id in db is: 292395
inserted disease: 194533 OMIM ZINC FINGER PROTEIN 35
id in db is: 292396
inserted disease: 201470 OMIM ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
id in db is: 292397
inserted disease: 616580 OMIM AU-KLINE SYNDROME; AUKS
id in db is: 292398
inserted disease: 601634 OMIM NEURAL TUBE DEFECTS, FOLATE-SENSITIVE
id in db is: 292399
inserted disease: 606963 OMIM %606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPDPULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET, INCLUDED;;COPD, SEVERE EARLY-ONSET, INCLUDED;;PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTIONIN, INCLUDED
id in db is: 292400
inserted disease: 154570 OMIM MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE
id in db is: 292401
inserted disease: 602247 OMIM XANTHOMATOSIS, SUSCEPTIBILITY TO
id in db is: 292402
inserted disease: 601350 OMIM SHORT STATURE SYNDROME, BRUSSELS TYPE
id in db is: 292403
inserted disease: 1742 ORPHA Trisomy 5p
id in db is: 292404
inserted disease: 178635 OMIM SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D
id in db is: 292405
inserted disease: 210730 OMIM MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III
id in db is: 292406
inserted disease: 613693 OMIM LONG QT SYNDROME 6; LQT6
id in db is: 292407
inserted disease: 199296 ORPHA Congenital isolated ACTH deficiency
id in db is: 292408
inserted disease: 614373 OMIM #614373 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16
id in db is: 292409
inserted disease: 607136 OMIM #607136 SPINOCEREBELLAR ATAXIA 17; SCA17;;HUNTINGTON DISEASE-LIKE 4; HDL4
id in db is: 292410
inserted disease: 164400 OMIM #164400 SPINOCEREBELLAR ATAXIA 1; SCA1;;SPINOCEREBELLAR ATROPHY I;;OLIVOPONTOCEREBELLAR ATROPHY I; OPCA I; OPCA1;;CEREBELLOPARENCHYMAL DISORDER I; CPD1;;MENZEL TYPE OPCA;;OLIVOPONTOCEREBELLAR ATROPHY IV; OPCA IV; OPCA4;;SCHUT-HAYMAKER TYPE OPCA
id in db is: 292411
inserted disease: 616265 OMIM #616265 PEELING SKIN SYNDROME 3; PSS3
id in db is: 292412
inserted disease: 605039 OMIM #605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME
id in db is: 292413
inserted disease: 2994 ORPHA Short stature-craniofacial anomalies-genital hypoplasia syndrome
id in db is: 292414
inserted disease: 606392 OMIM #606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4;;MODY, TYPE 4
id in db is: 292415
inserted disease: 2311 ORPHA Autosomal recessive spondylocostal dysostosis
id in db is: 292416
inserted disease: 2182 ORPHA Hydrocephalus with stenosis of the aqueduct of Sylvius
id in db is: 292417
inserted disease: 222700 OMIM #222700 LYSINURIC PROTEIN INTOLERANCE; LPI;;DIBASIC AMINO ACIDURIA II
id in db is: 292418
inserted disease: 118210 OMIM #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
id in db is: 292419
inserted disease: 300835 OMIM #300835 ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES;XLANP
id in db is: 292420
inserted disease: 182875 OMIM SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, ANDTRANSVERSE EARLOBE CREASE
id in db is: 292421
inserted disease: 616470 OMIM #616470 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2
id in db is: 292422
inserted disease: 91132 ORPHA Ichthyosis-hypotrichosis syndrome
id in db is: 292423
inserted disease: 257970 OMIM OCULORENOCEREBELLAR SYNDROME
id in db is: 292424
inserted disease: 424500 OMIM GONADOBLASTOMA
id in db is: 292425
inserted disease: 2776 ORPHA Autosomal recessive distal osteolysis syndrome
id in db is: 292426
inserted disease: 181510 OMIM SCHIZOPHRENIA 1
id in db is: 292427
inserted disease: 205700 OMIM ANEMIA, AUTOIMMUNE HEMOLYTIC
id in db is: 292428
inserted disease: 147400 OMIM INCISORS, SHOVEL-SHAPED
id in db is: 292429
inserted disease: 225740 OMIM ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY,AND CATARACTS
id in db is: 292430
inserted disease: 1947 ORPHA Progressive epilepsy-intellectual disability syndrome, Finnish type
id in db is: 292431
inserted disease: 166760 OMIM OTITIS MEDIA, SUSCEPTIBILITY TO
id in db is: 292432
inserted disease: 314621 ORPHA Duplication of the pituitary gland
id in db is: 292433
inserted disease: 122450 OMIM %122450 CORNEAL HYPESTHESIA, FAMILIAL;;TRIGEMINAL ANESTHESIA, FAMILIAL
id in db is: 292434
inserted disease: 604185 OMIM FACIAL PARESIS, HEREDITARY CONGENITAL, 2; HCFP2
id in db is: 292435
inserted disease: 240600 OMIM GLYCOGEN STORAGE DISEASE 0, LIVER
id in db is: 292436
inserted disease: 613225 OMIM #613225 FACTOR XIII, A SUBUNIT, DEFICIENCY OF
id in db is: 292437
inserted disease: 151640 OMIM LIP, HAMARTOMATOUS
id in db is: 292438
inserted disease: 616329 OMIM MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13
id in db is: 292439
inserted disease: 610338 OMIM RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL
id in db is: 292440
inserted disease: 227210 OMIM 227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY
id in db is: 292441
inserted disease: 614437 OMIM #614437 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
id in db is: 292442
inserted disease: 615432 OMIM #615432 SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5
id in db is: 292443
inserted disease: 246570 OMIM FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME
id in db is: 292444
inserted disease: 312170 OMIM #312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD;;PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;;PYRUVATE DECARBOXYLASE DEFICIENCY;;ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM;;PDH DEFICIENCY;;ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY;;ATAXIA WITH LACTIC ACIDOSIS ILACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED
id in db is: 292445
inserted disease: 613161 OMIM BETA-UREIDOPROPIONASE DEFICIENCY
id in db is: 292446
inserted disease: 120200 OMIM COLOBOMA, OCULAR
id in db is: 292447
inserted disease: 242850 OMIM IMMUNE DEFICIENCY DISEASE
id in db is: 292448
inserted disease: 773 ORPHA Refsum disease
id in db is: 292449
inserted disease: 136000 OMIM FINGERPRINTS, ABSENCE OF
id in db is: 292450
inserted disease: 258650 OMIM 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE
id in db is: 292451
inserted disease: 613824 OMIM #613824 NEPHRONOPHTHISIS 9; NPHP9
id in db is: 292452
inserted disease: 601322 OMIM PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS
id in db is: 292453
inserted disease: 114835 OMIM CARBOXYLESTERASE 1
id in db is: 292454
inserted disease: 167220 OMIM PACMAN DYSPLASIA
id in db is: 292455
inserted disease: 604060 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20
id in db is: 292456
inserted disease: 614327 OMIM #614327 TUMOR PREDISPOSITION SYNDROME; TPDS
id in db is: 292457
inserted disease: 2387 ORPHA Leukonychia totalis
id in db is: 292458
inserted disease: 177820 OMIM PSEUDO-VON WILLEBRAND DISEASE
id in db is: 292459
inserted disease: 166 ORPHA Charcot-Marie-Tooth disease
id in db is: 292460
inserted disease: 604454 OMIM WELANDER DISTAL MYOPATHY; WDM
id in db is: 292461
inserted disease: 259440 OMIM OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITYOF TYPE I COLLAGEN
id in db is: 292462
inserted disease: 214450 OMIM GRISCELLI SYNDROME, TYPE 1
id in db is: 292463
inserted disease: 895 ORPHA Waardenburg syndrome type 2
id in db is: 292464
inserted disease: 116400 OMIM CATARACT, NUCLEAR TOTAL
id in db is: 292465
inserted disease: 600670 OMIM VARICELLA, SEVERE RECURRENT
id in db is: 292466
inserted disease: 131600 OMIM 131600 EPIDERMOID CYSTS
id in db is: 292467
inserted disease: 258870 OMIM ORNITHINE AMINOTRANSFERASE DEFICIENCY
id in db is: 292468
inserted disease: 1052 ORPHA Mosaic variegated aneuploidy syndrome
id in db is: 292469
inserted disease: 726 ORPHA Alpers-Huttenlocher syndrome
id in db is: 292470
inserted disease: 98850 ORPHA Aggressive systemic mastocytosis
id in db is: 292471
inserted disease: 140350 OMIM HAWKINSINURIA
id in db is: 292472
inserted disease: 601992 OMIM %601992 FRIEDREICH ATAXIA 2; FRDA2
id in db is: 292473
inserted disease: 148520 OMIM KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY
id in db is: 292474
inserted disease: 610543 OMIM CHROMOSOME 16p13.3 DELETION SYNDROME
id in db is: 292475
inserted disease: 2742 ORPHA Ophthalmoplegia-myalgia-tubular aggregates syndrome
id in db is: 292476
inserted disease: 275100 OMIM #275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4;;THYROTROPIN DEFICIENCY, ISOLATED;;THYROID-STIMULATING HORMONE DEFICIENCY;;TSH DEFICIENCY;;PITUITARY CRETINISMTHYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED
id in db is: 292477
inserted disease: 301940 OMIM BRACHYDACTYLY, MONONEN TYPE
id in db is: 292478
inserted disease: 2768 ORPHA Blount disease
id in db is: 292479
inserted disease: 124 ORPHA Blackfan-Diamond anemia
id in db is: 292480
inserted disease: 600419 OMIM ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS
id in db is: 292481
inserted disease: 90646 ORPHA Deafness-hypogonadism syndrome
id in db is: 292482
inserted disease: 145700 OMIM HYPERTRICHOSIS UNIVERSALIS
id in db is: 292483
inserted disease: 104100 OMIM ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS
id in db is: 292484
inserted disease: 225755 OMIM ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY,MICROCEPHALY, AND RETINAL DEGENERATION
id in db is: 292485
inserted disease: 226750 OMIM #226750 KOHLSCHUTTER-TONZ SYNDROME; KTZS;;EPILEPSY AND YELLOW TEETH;;EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA;;KOHLSCHUTTER SYNDROME
id in db is: 292486
inserted disease: 603147 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC
id in db is: 292487
inserted disease: 2140 ORPHA Congenital diaphragmatic hernia
id in db is: 292488
inserted disease: 3270 ORPHA Radioulnar synostosis-developmental delay-hypotonia syndrome
id in db is: 292489
inserted disease: 79480 ORPHA Pemphigus erythematosus
id in db is: 292490
inserted disease: 608571 OMIM 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY
id in db is: 292491
inserted disease: 118100 OMIM KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
id in db is: 292492
inserted disease: 609141 OMIM #609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3
id in db is: 292493
inserted disease: 261197 ORPHA Proximal 16p11.2 microdeletion syndrome
id in db is: 292494
inserted disease: 95409 ORPHA Acute adrenal insufficiency
id in db is: 292495
inserted disease: 284400 ORPHA Small cell carcinoma of the bladder
id in db is: 292496
inserted disease: 589 ORPHA Myasthenia gravis
id in db is: 292497
inserted disease: 391665 ORPHA Homozygous familial hypercholesterolemia
id in db is: 292498
inserted disease: 268700 OMIM SACCHAROPINURIA
id in db is: 292499
inserted disease: 600202 OMIM DYSLEXIA, SUSCEPTIBILITY TO, 2
id in db is: 292500
inserted disease: 227320 OMIM 227320 FACIOTHORACOGENITAL SYNDROME
id in db is: 292501
inserted disease: 605751 OMIM #605751 SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2;;CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2; BFIC2
id in db is: 292502
inserted disease: 302400 OMIM CENTRAL INCISORS, ABSENCE OF
id in db is: 292503
inserted disease: 238446 ORPHA 15q11q13 microduplication syndrome
id in db is: 292504
inserted disease: 89840 ORPHA Junctional epidermolysis bullosa, non-Herlitz type
id in db is: 292505
inserted disease: 300643 OMIM #300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;RESDX
id in db is: 292506
inserted disease: 601759 OMIM PREAXIAL HALLUCAL POLYDACTYLY
id in db is: 292507
inserted disease: 601414 OMIM RETINITIS PIGMENTOSA 18
id in db is: 292508
inserted disease: 147950 OMIM HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2
id in db is: 292509
inserted disease: 258100 OMIM #258100 OGUCHI DISEASE 1;;NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1; CSNBO1
id in db is: 292510
inserted disease: 613488 OMIM #613488 MYXOID LIPOSARCOMA
id in db is: 292511
inserted disease: 300661 OMIM PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
id in db is: 292512
inserted disease: 114600 OMIM CANINE TEETH, ABSENCE OF UPPER PERMANENT
id in db is: 292513
inserted disease: 79303 ORPHA Congenital bile acid synthesis defect type 2
id in db is: 292514
inserted disease: 609535 OMIM #609535 DRUG METABOLISM, POOR, CYP2C19-RELATEDMEPHENYTOIN, POOR METABOLISM OF, INCLUDED;;OMEPRAZOLE, POOR METABOLISM OF, INCLUDED;;PROGUANIL, POOR METABOLISM OF, INCLUDED;;CLOPIDOGREL, POOR METABOLISM OF, INCLUDED
id in db is: 292515
inserted disease: 85202 ORPHA Keutel syndrome
id in db is: 292516
inserted disease: 601457 OMIM #601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
id in db is: 292517
inserted disease: 614629 OMIM %614629 KERATOCONUS 7; KTCN7
id in db is: 292518
inserted disease: 615273 OMIM #615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG;;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv; CDG1V;;CDG Iv; CDGIv
id in db is: 292519
inserted disease: 160900 OMIM #160900 MYOTONIC DYSTROPHY 1; DM1;;DYSTROPHIA MYOTONICA 1;;DYSTROPHIA MYOTONICA; DM;;STEINERT DISEASE
id in db is: 292520
inserted disease: 162700 OMIM %162700 NEUTROPENIA, CHRONIC FAMILIAL;;LEUKOPENIA, BENIGN FAMILIAL
id in db is: 292521
inserted disease: 342 ORPHA Familial Mediterranean fever
id in db is: 292522
inserted disease: 187040 OMIM T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1
id in db is: 292523
inserted disease: 613320 OMIM #613320 SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM;;CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
id in db is: 292524
inserted disease: 607778 OMIM #607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD
id in db is: 292525
inserted disease: 337 ORPHA Fibrodysplasia ossificans progressiva
id in db is: 292526
inserted disease: 612233 OMIM #612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4;;MITOCHONDRIAL HSP60 CHAPERONOPATHY;;MITCHAP60 DISEASE
id in db is: 292527
inserted disease: 614862 OMIM #614862 PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4, INCLUDED;CG4, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 6, INCLUDED;CG6, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP C, INCLUDED;CGC, INCLUDED
id in db is: 292528
inserted disease: 135100 OMIM #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
id in db is: 292529
inserted disease: 212540 OMIM 212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME;;CAMFAK SYNDROMECATARACT, MICROCEPHALY, ARTHROGRYPOSIS, KYPHOSIS SYNDROME, INCLUDED;;CAMAK SYNDROME, INCLUDED
id in db is: 292530
inserted disease: 108050 OMIM ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS
id in db is: 292531
inserted disease: 31153 ORPHA Hypoalphalipoproteinemia
id in db is: 292532
inserted disease: 157170 OMIM #157170 HOLOPROSENCEPHALY 2; HPE2
id in db is: 292533
inserted disease: 614278 OMIM #614278 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY; PAFAD
id in db is: 292534
inserted disease: 124480 OMIM DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD
id in db is: 292535
inserted disease: 226200 OMIM ENTEROKINASE DEFICIENCY
id in db is: 292536
inserted disease: 615872 OMIM CILIARY DYSKINESIA, PRIMARY, 29; CILD29
id in db is: 292537
inserted disease: 685 ORPHA Hereditary spastic paraplegia
id in db is: 292538
inserted disease: 236800 OMIM %236800 HYDROXYKYNURENINURIA;;XANTHURENIC ACIDURIA;;KYNURENINASE DEFICIENCY
id in db is: 292539
inserted disease: 187260 OMIM TELANGIECTASIA, HEREDITARY BENIGN
id in db is: 292540
inserted disease: 615145 OMIM #615145 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9
id in db is: 292541
inserted disease: 266280 OMIM #266280 RAPADILINO SYNDROME
id in db is: 292542
inserted disease: 508 ORPHA Leprechaunism
id in db is: 292543
inserted disease: 1784 ORPHA Acro-fronto-facio-nasal dysostosis
id in db is: 292544
inserted disease: 613839 OMIM #613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY;;DHFR DEFICIENCY
id in db is: 292545
inserted disease: 79433 ORPHA Oculocutaneous albinism type 3
id in db is: 292546
inserted disease: 118650 OMIM CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTCHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED
id in db is: 292547
inserted disease: 167770 OMIM REGENERATING ISLET-DERIVED 1-ALPHA
id in db is: 292548
inserted disease: 122780 OMIM COXOAURICULAR SYNDROME
id in db is: 292549
inserted disease: 224500 OMIM DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2
id in db is: 292550
inserted disease: 311050 OMIM OPTIC ATROPHY 2
id in db is: 292551
inserted disease: 600110 OMIM #600110 STARGARDT DISEASE 3; STGD3;;MACULAR DYSTROPHY WITH FLECKS, TYPE 3;;STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
id in db is: 292552
inserted disease: 608189 OMIM TROPICAL CALCIFIC PANCREATITIS
id in db is: 292553
inserted disease: 16 ORPHA Blue cone monochromatism
id in db is: 292554
inserted disease: 615188 OMIM #615188 CATARACT, MULTIPLE TYPES
id in db is: 292555
inserted disease: 155140 OMIM MECKEL DIVERTICULUM
id in db is: 292556
inserted disease: 109900 OMIM BLEPHAROCHALASIS AND DOUBLE LIP
id in db is: 292557
inserted disease: 110150 OMIM BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS
id in db is: 292558
inserted disease: 150400 OMIM TOOTH AGENESIS, SELECTIVE, 4
id in db is: 292559
inserted disease: 614877 OMIM #614877 PEROXISOME BIOGENESIS DISORDER 8B; PBD8B
id in db is: 292560
inserted disease: 85275 ORPHA Microphthalmia-ankyloblepharon-intellectual disability syndrome
id in db is: 292561
inserted disease: 125050 OMIM DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA
id in db is: 292562
inserted disease: 615191 OMIM LISSENCEPHALY 5; LIS5
id in db is: 292563
inserted disease: 167000 OMIM #167000 OVARIAN CANCEROVARIAN CANCER, EPITHELIAL, INCLUDED
id in db is: 292564
inserted disease: 613402 OMIM #613402 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE10
id in db is: 292565
inserted disease: 179300 OMIM RADIOULNAR SYNOSTOSIS
id in db is: 292566
inserted disease: 601539 OMIM #601539 PEROXISOME BIOGENESIS DISORDER 1B; PBD1B;;PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILEREFSUM DISEASE);;PEROXISOME BIOGENESIS DISORDER (NALD/IRD);;ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL;;REFSUM DISEASE, INFANTILE;;INFANTILE PHYTANIC ACID STORAGE DISEASE
id in db is: 292567
inserted disease: 46487 ORPHA Acquired epidermolysis bullosa
id in db is: 292568
inserted disease: 2135 ORPHA Hennekam-Beemer syndrome
id in db is: 292569
inserted disease: 2597 ORPHA Mitochondrial myopathy-lactic acidosis-deafness syndrome
id in db is: 292570
inserted disease: 600706 OMIM PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA
id in db is: 292571
inserted disease: 601701 OMIM 601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA;;TRICHOOCULODERMOVERTEBRAL SYNDROME;;TODV SYNDROME;;ALVES SYNDROME
id in db is: 292572
inserted disease: 309050 OMIM LUTHERAN SUPPRESSOR, X-LINKED
id in db is: 292573
inserted disease: 600969 OMIM EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3
id in db is: 292574
inserted disease: 1005 ORPHA Alopecia-contractures-dwarfism-intellectual disability syndrome
id in db is: 292575
inserted disease: 191390 OMIM INFLAMMATORY BOWEL DISEASE 11
id in db is: 292576
inserted disease: 63 ORPHA Alport syndrome
id in db is: 292577
inserted disease: 614409 OMIM #614409 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46
id in db is: 292578
inserted disease: 280785 ORPHA Bullous diffuse cutaneous mastocytosis
id in db is: 292579
inserted disease: 604536 OMIM ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
id in db is: 292580
inserted disease: 615102 OMIM %615102 TYSHCHENKO SYNDROME
id in db is: 292581
inserted disease: 259660 OMIM 259660 OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION
id in db is: 292582
inserted disease: 253800 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
id in db is: 292583
inserted disease: 35093 ORPHA Isolated scaphocephaly
id in db is: 292584
inserted disease: 270800 OMIM #270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
id in db is: 292585
inserted disease: 245450 OMIM LACTIC ACIDURIA DUE TO D-LACTIC ACID
id in db is: 292586
inserted disease: 300484 OMIM OROFACIODIGITAL SYNDROME VIII; OFD8
id in db is: 292587
inserted disease: 2257 ORPHA Familial primary pulmonary hypoplasia
id in db is: 292588
inserted disease: 296 ORPHA Enchondromatosis
id in db is: 292589
inserted disease: 207500 OMIM ANUS, IMPERFORATE
id in db is: 292590
inserted disease: 609056 OMIM #609056 AMISH INFANTILE EPILEPSY SYNDROME;;EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC;;GM3 SYNTHASE DEFICIENCY;;SALT AND PEPPER MENTAL RETARDATION SYNDROME
id in db is: 292591
inserted disease: 123570 OMIM CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED
id in db is: 292592
inserted disease: 239199 OMIM HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA
id in db is: 292593
inserted disease: 177600 OMIM PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF
id in db is: 292594
inserted disease: 243200 OMIM INTRACRANIAL HYPERTENSION, IDIOPATHIC
id in db is: 292595
inserted disease: 616140 OMIM LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9
id in db is: 292596
inserted disease: 300863 OMIM CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
id in db is: 292597
inserted disease: 258320 OMIM OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL
id in db is: 292598
inserted disease: 1955 ORPHA Spinocerebellar ataxia type 34
id in db is: 292599
inserted disease: 225410 OMIM #225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE;;EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE;;DERMATOSPARAXIS;;EDS VIIC;;EDS7C
id in db is: 292600
inserted disease: 1830 ORPHA Schimke immuno-osseous dysplasia
id in db is: 292601
inserted disease: 600795 OMIM FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
id in db is: 292602
inserted disease: 126900 OMIM DUPUYTREN CONTRACTUREDUPUYTREN CONTRACTURE 1, INCLUDED
id in db is: 292603
inserted disease: 79262 ORPHA Adult neuronal ceroid lipofuscinosis
id in db is: 292604
inserted disease: 613870 OMIM #613870 HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION
id in db is: 292605
inserted disease: 228402 ORPHA 2q23.1 microdeletion syndrome
id in db is: 292606
inserted disease: 2379 ORPHA Early-onset parkinsonism-intellectual disability syndrome
id in db is: 292607
inserted disease: 600263 OMIM HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO
id in db is: 292608
inserted disease: 608443 OMIM #608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3
id in db is: 292609
inserted disease: 611929 OMIM CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III
id in db is: 292610
inserted disease: 33111 ORPHA Granulomatous slack skin
id in db is: 292611
inserted disease: 615493 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37
id in db is: 292612
inserted disease: 612563 OMIM #612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8
id in db is: 292613
inserted disease: 123790 OMIM #123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS;;BEARE-STEVENSON SYNDROME;;CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
id in db is: 292614
inserted disease: 232240 OMIM GLYCOGEN STORAGE DISEASE IC
id in db is: 292615
inserted disease: 613076 OMIM #613076 MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARINGLOSS, AND DEVELOPMENTAL DELAY;;MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY;;MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED
id in db is: 292616
inserted disease: 169095 ORPHA Alymphoid cystic thymic dysgenesis
id in db is: 292617
inserted disease: 137130 OMIM GASTRIC SNEEZING
id in db is: 292618
inserted disease: 259780 OMIM OTOONYCHOPERONEAL SYNDROME
id in db is: 292619
inserted disease: 614465 OMIM #614465 JOUBERT SYNDROME 16; JBTS16
id in db is: 292620
inserted disease: 615911 OMIM FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2
id in db is: 292621
inserted disease: 605479 OMIM CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2
id in db is: 292622
inserted disease: 601127 OMIM FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION
id in db is: 292623
inserted disease: 262000 OMIM #262000 BJORNSTAD SYNDROME; BJS;;PILI TORTI AND NERVE DEAFNESS;;PTD
id in db is: 292624
inserted disease: 140905 ORPHA Hyperlipidemia due to hepatic triglyceride lipase deficiency
id in db is: 292625
inserted disease: 614990 OMIM %614990 USHER SYNDROME, TYPE IK; USH1K
id in db is: 292626
inserted disease: 204800 OMIM AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF
id in db is: 292627
inserted disease: 259770 OMIM OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
id in db is: 292628
inserted disease: 614455 OMIM #614455 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE;;CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS
id in db is: 292629
inserted disease: 1566 ORPHA Dandy-Walker malformation-postaxial polydactyly syndrome
id in db is: 292630
inserted disease: 983 ORPHA Testicular regression syndrome
id in db is: 292631
inserted disease: 154020 OMIM #154020 HYPOMAGNESEMIA 2, RENAL; HOMG2;;MAGNESIUM WASTING, RENAL;;MAGNESIUM LOSS, ISOLATED RENAL
id in db is: 292632
inserted disease: 300807 OMIM #300807 THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED
id in db is: 292633
inserted disease: 239850 OMIM HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
id in db is: 292634
inserted disease: 273730 OMIM 273730 THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME
id in db is: 292635
inserted disease: 163500 OMIM NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2
id in db is: 292636
inserted disease: 128101 OMIM #128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4;;WHISPERING DYSPHONIA, HEREDITARY;;DYSTONIA MUSCULORUM DEFORMANS 4
id in db is: 292637
inserted disease: 301845 OMIM %301845 BAZEX SYNDROME; BZX;;BAZEX-DUPRE-CHRISTOL SYNDROME; BDCS;;FOLLICULAR ATROPHODERMA AND BASAL CELL CARCINOMAS
id in db is: 292638
inserted disease: 603554 OMIM #603554 OMENN SYNDROME;;RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA;;SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
id in db is: 292639
inserted disease: 615560 OMIM #615560 OTOFACIOCERVICAL SYNDROME 2; OFC2
id in db is: 292640
inserted disease: 151200 OMIM CHROMOSOME 8q22.1 DUPLICATION SYNDROME
id in db is: 292641
inserted disease: 616414 OMIM AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK
id in db is: 292642
inserted disease: 560 ORPHA Marshall syndrome
id in db is: 292643
inserted disease: 274300 OMIM THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
id in db is: 292644
inserted disease: 250923 ORPHA Isolated aniridia
id in db is: 292645
inserted disease: 178610 OMIM 178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL
id in db is: 292646
inserted disease: 612530 OMIM CHROMOSOME 1q41-q42 DELETION SYNDROME
id in db is: 292647
inserted disease: 34217 ORPHA Naxos disease
id in db is: 292648
inserted disease: 616304 OMIM MYASTHENIC SYNDROME, CONGENITAL, 17; CMS17
id in db is: 292649
inserted disease: 211750 OMIM #211750 C SYNDROME;;OPITZ TRIGONOCEPHALY SYNDROME;;TRIGONOCEPHALY SYNDROME
id in db is: 292650
inserted disease: 134300 OMIM FACIAL SPASM
id in db is: 292651
inserted disease: 2604 ORPHA Familial visceral myopathy
id in db is: 292652
inserted disease: 79086 ORPHA Acquired generalized lipodystrophy
id in db is: 292653
inserted disease: 614749 OMIM #614749 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2
id in db is: 292654
inserted disease: 614926 OMIM #614926 PERRAULT SYNDROME 2; PRLTS2
id in db is: 292655
inserted disease: 614575 OMIM CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME; CANVAS
id in db is: 292656
inserted disease: 130700 OMIM EMPHYSEMA, HEREDITARY PULMONARY
id in db is: 292657
inserted disease: 2483 ORPHA Melkersson-Rosenthal syndrome
id in db is: 292658
inserted disease: 615035 OMIM #615035 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55
id in db is: 292659
inserted disease: 161080 OMIM NAIL LOW-SULFUR PROTEIN
id in db is: 292660
inserted disease: 273740 OMIM THORACOMELIC DYSPLASIA
id in db is: 292661
inserted disease: 231670 OMIM #231670 GLUTARIC ACIDEMIA I;;GLUTARIC ACIDURIA I;;GA I;;GLUTARYL-COA DEHYDROGENASE DEFICIENCY
id in db is: 292662
inserted disease: 2078 ORPHA Geroderma osteodysplastica
id in db is: 292663
inserted disease: 239840 OMIM HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY
id in db is: 292664
inserted disease: 48818 ORPHA Aceruloplasminemia
id in db is: 292665
inserted disease: 136550 OMIM MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE
id in db is: 292666
inserted disease: 611174 OMIM #611174 HAMAMY SYNDROME; HMMS;;HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION,AND BONE FRAGILITY
id in db is: 292667
inserted disease: 608323 OMIM CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC
id in db is: 292668
inserted disease: 614959 OMIM #614959 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14
id in db is: 292669
inserted disease: 799 ORPHA Schizencephaly
id in db is: 292670
inserted disease: 269500 OMIM #269500 SCLEROSTEOSIS 1; SOST1;;SOST;;CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
id in db is: 292671
inserted disease: 166210 OMIM OSTEOGENESIS IMPERFECTA, TYPE IIA
id in db is: 292672
inserted disease: 614181 OMIM RETINITIS PIGMENTOSA 62; RP62
id in db is: 292673
inserted disease: 113800 OMIM #113800 EPIDERMOLYTIC HYPERKERATOSIS; EHK;;BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ;;BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; BCIE;;BULLOUS ICHTHYOSIFORM ERYTHRODERMA; BIE;;EPIDERMOLYTIC ICHTHYOSISEPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET, INCLUDED
id in db is: 292674
inserted disease: 600273 OMIM POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS
id in db is: 292675
inserted disease: 208400 OMIM #208400 ASPARTYLGLUCOSAMINURIA; AGU;;GLYCOSYLASPARAGINASE DEFICIENCY;;ASPARTYLGLUCOSAMINIDASE DEFICIENCY;;AGA DEFICIENCY;;GLYCOASPARAGINASE;;ASPARTYLGLYCOSAMINURIA
id in db is: 292676
inserted disease: 100820 OMIM ACHOO SYNDROME
id in db is: 292677
inserted disease: 615529 OMIM #615529 CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5
id in db is: 292678
inserted disease: 221900 OMIM #221900 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR;;RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; NCRNA;;RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT;;PERSISTENT FETAL VASCULATURE
id in db is: 292679
inserted disease: 182960 OMIM NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I
id in db is: 292680
inserted disease: 184000 OMIM 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS
id in db is: 292681
inserted disease: 612740 OMIM #612740 PORPHYRIA, ACUTE HEPATIC;;DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY;;ALAD DEFICIENCY;;PORPHYRIA, ALAD;;PORPHOBILINOGEN SYNTHASE DEFICIENCY;;DOSS PORPHYRIALEAD POISONING, SUSCEPTIBILITY TO, INCLUDED
id in db is: 292682
inserted disease: 257200 OMIM #257200 NIEMANN-PICK DISEASE, TYPE A;;SPHINGOMYELIN LIPIDOSIS;;SPHINGOMYELINASE DEFICIENCYNIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
id in db is: 292683
inserted disease: 1270 ORPHA Bowen-Conradi syndrome
id in db is: 292684
inserted disease: 3303 ORPHA Tetralogy of Fallot
id in db is: 292685
inserted disease: 120502 OMIM BRANCHIOOTIC SYNDROME 2
id in db is: 292686
inserted disease: 215 ORPHA Congenital stationary night blindness
id in db is: 292687
inserted disease: 609655 OMIM TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS
id in db is: 292688
inserted disease: 182970 OMIM %182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE;;FSHSMA
id in db is: 292689
inserted disease: 731 ORPHA Autosomal recessive polycystic kidney disease
id in db is: 292690
inserted disease: 611755 OMIM #611755 LEBER CONGENITAL AMAUROSIS 10; LCA10
id in db is: 292691
inserted disease: 146720 OMIM ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
id in db is: 292692
inserted disease: 180600 OMIM RINGED HAIR
id in db is: 292693
inserted disease: 300523 OMIM ALLAN-HERNDON-DUDLEY SYNDROME
id in db is: 292694
inserted disease: 613310 OMIM #613310 EXUDATIVE VITREORETINOPATHY 5; EVR5
id in db is: 292695
inserted disease: 219800 OMIM #219800 CYSTINOSIS, NEPHROPATHIC; CTNS;;LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF;;CYSTINOSIN, DEFECT OFCYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED;;CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED
id in db is: 292696
inserted disease: 1475 ORPHA Renal coloboma syndrome
id in db is: 292697
inserted disease: 369873 ORPHA Obesity due to SIM1 deficiency
id in db is: 292698
inserted disease: 192900 OMIM VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS
id in db is: 292699
inserted disease: 608118 OMIM ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD
id in db is: 292700
inserted disease: 123155 OMIM CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS
id in db is: 292701
inserted disease: 99967 ORPHA Myxoid/round cell liposarcoma
id in db is: 292702
inserted disease: 611702 OMIM SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE
id in db is: 292703
inserted disease: 142395 OMIM HEPATITIS B VACCINE, RESPONSE TO
id in db is: 292704
inserted disease: 1314 ORPHA Symmetrical thalamic calcifications
id in db is: 292705
inserted disease: 215140 OMIM #215140 GREENBERG DYSPLASIA; GRBGD;;HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA;;HEM SKELETAL DYSPLASIA;;MOTH-EATEN SKELETAL DYSPLASIA;;CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE
id in db is: 292706
inserted disease: 217346 ORPHA 19q13.11 microdeletion syndrome
id in db is: 292707
inserted disease: 611819 OMIM #611819 LONG QT SYNDROME 10; LQT10ATRIAL FIBRILLATION, FAMILIAL, 17, INCLUDED; ATFB17, INCLUDED
id in db is: 292708
inserted disease: 146600 OMIM ICHTHYOSIS HYSTRIX GRAVIOR
id in db is: 292709
inserted disease: 212200 OMIM CARNOSINEMIA
id in db is: 292710
inserted disease: 600096 OMIM 600096 PUERTO RICAN INFANT HYPOTONIA SYNDROME
id in db is: 292711
inserted disease: 176807 OMIM #176807 PROSTATE CANCER
id in db is: 292712
inserted disease: 241510 OMIM HYPOPHOSPHATASIA, CHILDHOOD
id in db is: 292713
inserted disease: 179494 ORPHA Obesity due to leptin receptor gene deficiency
id in db is: 292714
inserted disease: 605589 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2
id in db is: 292715
inserted disease: 611788 OMIM #611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6;;FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRISFLOCCULI
id in db is: 292716
inserted disease: 228410 ORPHA Polyvalvular heart disease syndrome
id in db is: 292717
inserted disease: 90036 ORPHA Mixed-type autoimmune hemolytic anemia
id in db is: 292718
inserted disease: 120970 OMIM #120970 CONE-ROD DYSTROPHY 2; CORD2;;CONE-ROD DYSTROPHY; CORD;;CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;;RETINAL CONE-ROD DYSTROPHY; RCRD2
id in db is: 292719
inserted disease: 228000 OMIM #228000 FARBER LIPOGRANULOMATOSIS;;FARBER DISEASE;;CERAMIDASE DEFICIENCY;;ACID CERAMIDASE DEFICIENCY;;AC DEFICIENCY;;N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
id in db is: 292720
inserted disease: 2047 ORPHA Flynn-Aird syndrome
id in db is: 292721
inserted disease: 612847 OMIM BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4
id in db is: 292722
inserted disease: 200130 OMIM ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION
id in db is: 292723
inserted disease: 613885 OMIM #613885 MECKEL SYNDROME, TYPE 8; MKS8
id in db is: 292724
inserted disease: 261550 OMIM PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
id in db is: 292725
inserted disease: 615649 OMIM %615649 DEAFNESS, AUTOSOMAL DOMINANT 54; DFNA54
id in db is: 292726
inserted disease: 268080 OMIM %268080 RETINOSCHISIS OF FOVEA
id in db is: 292727
inserted disease: 265150 OMIM 265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM
id in db is: 292728
inserted disease: 611809 OMIM #611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
id in db is: 292729
inserted disease: 158684 ORPHA Epidermolysis bullosa simplex with pyloric atresia
id in db is: 292730
inserted disease: 163746 ORPHA Neurologic Waardenburg-Shah syndrome
id in db is: 292731
inserted disease: 93262 ORPHA Crouzon syndrome-acanthosis nigricans syndrome
id in db is: 292732
inserted disease: 129500 OMIM #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
id in db is: 292733
inserted disease: 606835 OMIM #606835 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB
id in db is: 292734
inserted disease: 2856 ORPHA Persistent Müllerian duct syndrome
id in db is: 292735
inserted disease: 213000 OMIM CEREBELLAR HYPOPLASIA
id in db is: 292736
inserted disease: 600908 OMIM 600908 KENNERKNECHT SYNDROME;;AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS
id in db is: 292737
inserted disease: 613604 OMIM TO 8.7-MB
id in db is: 292738
inserted disease: 161070 OMIM NAIL HIGH-SULFUR PROTEIN
id in db is: 292739
inserted disease: 616687 OMIM #616687 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y; CMT2Y;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y
id in db is: 292740
inserted disease: 1825 ORPHA Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
id in db is: 292741
inserted disease: 635 ORPHA Neuroblastoma
id in db is: 292742
inserted disease: 611031 OMIM %611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2;;DYSTONIA 19; DYT19
id in db is: 292743
inserted disease: 175800 OMIM POROKERATOSIS OF MIBELLI
id in db is: 292744
inserted disease: 614816 OMIM #614816 LOEYS-DIETZ SYNDROME, TYPE 4; LDS4;;ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETALMANIFESTATIONS
id in db is: 292745
inserted disease: 207950 OMIM CHIARI MALFORMATION TYPE II
id in db is: 292746
inserted disease: 249900 OMIM #249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY;;METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATORDEFICIENCY;;SAPOSIN B DEFICIENCY
id in db is: 292747
inserted disease: 79132 ORPHA Sparse hair-short stature-skin anomalies syndrome
id in db is: 292748
inserted disease: 183100 OMIM SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS
id in db is: 292749
inserted disease: 215250 OMIM CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME
id in db is: 292750
inserted disease: 256520 OMIM #256520 NEU-LAXOVA SYNDROME; NLS
id in db is: 292751
inserted disease: 1809 ORPHA Hidrotic ectodermal dysplasia, Halal type
id in db is: 292752
inserted disease: 902 ORPHA Werner syndrome
id in db is: 292753
inserted disease: 609223 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGERTYPE
id in db is: 292754
inserted disease: 183660 ORPHA Severe combined immunodeficiency
id in db is: 292755
inserted disease: 610717 OMIM #610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM;;NEUTRAL LIPID STORAGE DISEASE WITHOUT ICHTHYOSIS
id in db is: 292756
inserted disease: 3207 ORPHA White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
id in db is: 292757
inserted disease: 1231 ORPHA Barber-Say syndrome
id in db is: 292758
inserted disease: 187395 OMIM TERATOCARCINOMA-DERIVED GROWTH FACTOR 1; TDGF1
id in db is: 292759
inserted disease: 615670 OMIM #615670 SCHWANNOMATOSIS 2; SWNTS2
id in db is: 292760
inserted disease: 550500 OMIM MYOGLOBINURIA, RECURRENT
id in db is: 292761
inserted disease: 616219 OMIM FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; CFEOM5
id in db is: 292762
inserted disease: 600987 OMIM CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES
id in db is: 292763
inserted disease: 99829 ORPHA Yellow fever
id in db is: 292764
inserted disease: 601096 OMIM SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC
id in db is: 292765
inserted disease: 606346 OMIM DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
id in db is: 292766
inserted disease: 1867 ORPHA Bullous dystrophy, macular type
id in db is: 292767
inserted disease: 284180 ORPHA Xp22.13p22.2 duplication syndrome
id in db is: 292768
inserted disease: 304200 OMIM CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION
id in db is: 292769
inserted disease: 153890 OMIM MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE
id in db is: 292770
inserted disease: 140 ORPHA Campomelic dysplasia
id in db is: 292771
inserted disease: 615298 OMIM #615298 SYMPHALANGISM, PROXIMAL, 1B; SYM1B
id in db is: 292772
inserted disease: 220900 OMIM DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM
id in db is: 292773
inserted disease: 166750 OMIM OTODENTAL DYSPLASIA
id in db is: 292774
inserted disease: 167210 OMIM #167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2;;PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE
id in db is: 292775
inserted disease: 1646 ORPHA Partial chromosome Y deletion
id in db is: 292776
inserted disease: 251270 OMIM MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1
id in db is: 292777
inserted disease: 219080 OMIM ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
id in db is: 292778
inserted disease: 615355 OMIM #615355 NOONAN SYNDROME 8; NS8
id in db is: 292779
inserted disease: 182410 OMIM SNEDDON SYNDROME
id in db is: 292780
inserted disease: 212750 OMIM #212750 CELIAC DISEASE; CD;;CELIAC SPRUE;;GLUTEN-SENSITIVE ENTEROPATHY; GSECELIAC DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED; CELIAC1, INCLUDED
id in db is: 292781
inserted disease: 604387 OMIM #604387 NEPHRONOPHTHISIS 3; NPHP3;;NPH3
id in db is: 292782
inserted disease: 613949 OMIM #613949 OKT4 EPITOPE DEFICIENCY ;;T4 EPITOPE DEFICIENCY
id in db is: 292783
inserted disease: 2005 ORPHA Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome
id in db is: 292784
inserted disease: 616393 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38
id in db is: 292785
inserted disease: 887 ORPHA VACTERL/VATER association
id in db is: 292786
inserted disease: 718 ORPHA Isolated Pierre Robin syndrome
id in db is: 292787
inserted disease: 159700 OMIM MYOCLONUS AND ATAXIA
id in db is: 292788
inserted disease: 305450 OMIM #305450 OPITZ-KAVEGGIA SYNDROME; OKS;;FG SYNDROME 1; FGS1;;FG SYNDROME; FGS;;MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA,AND PARTIAL AGENESIS OF CORPUS CALLOSUM;;KELLER SYNDROME
id in db is: 292789
inserted disease: 602485 OMIM HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
id in db is: 292790
inserted disease: 609425 OMIM #609425 CHROMOSOME 3q29 DELETION SYNDROME;;MICRODELETION 3q29 SYNDROME
id in db is: 292791
inserted disease: 200450 OMIM ACHALASIA-MICROCEPHALY SYNDROME
id in db is: 292792
inserted disease: 215045 OMIM #215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
id in db is: 292793
inserted disease: 263570 OMIM POLYGLUCOSAN BODY DISEASE, ADULT FORM
id in db is: 292794
inserted disease: 608763 OMIM EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE
id in db is: 292795
inserted disease: 153880 OMIM %153880 MACULAR EDEMA, CYSTOID;;CYSTOID MACULAR DYSTROPHY; CYMD;;MACULAR DYSTROPHY, DOMINANT CYSTOID; MDDC;;DCMD
id in db is: 292796
inserted disease: 613857 OMIM %613857 OROFACIAL CLEFT 13; OFC13
id in db is: 292797
inserted disease: 2166 ORPHA Holoprosencephaly-postaxial polydactyly syndrome
id in db is: 292798
inserted disease: 189961 OMIM 189961 TRACHEOPATHIA OSTEOPLASTICA;;TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA
id in db is: 292799
inserted disease: 90044 ORPHA Familial pseudohyperkalemia
id in db is: 292800
inserted disease: 1010 ORPHA Autosomal dominant palmoplantar keratoderma and congenital alopecia
id in db is: 292801
inserted disease: 610600 OMIM #610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY;;CMO II DEFICIENCY;;ALDOSTERONE DEFICIENCY II;;HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1B;;ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE;;STEROID 18-OXIDASE DEFICIENCY;;18-@OXIDASE DEFICIENCY
id in db is: 292802
inserted disease: 264140 OMIM PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, ANDDEAFNESS
id in db is: 292803
inserted disease: 939 ORPHA 3-hydroxyisobutyric aciduria
id in db is: 292804
inserted disease: 608156 OMIM #608156 NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS;;CHROMOSOME 8q22.1 DELETION SYNDROME
id in db is: 292805
inserted disease: 608681 OMIM #608681 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
id in db is: 292806
inserted disease: 300845 OMIM #300845 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM,AND FACIAL DYSMORPHISM; MYMY4;;CHROMOSOME XQ28 DELETION SYNDROME, 3.4-KB;;SYNDROMIC MOYAMOYA DISEASE
id in db is: 292807
inserted disease: 616127 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17
id in db is: 292808
inserted disease: 603516 OMIM #603516 SPINOCEREBELLAR ATAXIA 10; SCA10
id in db is: 292809
inserted disease: 600000 OMIM SPONDYLOCAMPTODACTYLY
id in db is: 292810
inserted disease: 244100 OMIM JUMPING FRENCHMAN OF MAINE
id in db is: 292811
inserted disease: 265380 OMIM ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV
id in db is: 292812
inserted disease: 191160 OMIM TUMOR NECROSIS FACTOR
id in db is: 292813
inserted disease: 300633 OMIM #300633 HYPOSPADIAS 1, X-LINKED; HYSP1
id in db is: 292814
inserted disease: 254700 OMIM MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE
id in db is: 292815
inserted disease: 307030 OMIM #307030 HYPERGLYCEROLEMIA;;GLYCEROL KINASE DEFICIENCY;;GK DEFICIENCY; GKD;;GK1 DEFICIENCY
id in db is: 292816
inserted disease: 597 ORPHA Central core disease
id in db is: 292817
inserted disease: 118200 OMIM CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
id in db is: 292818
inserted disease: 611812 OMIM 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
id in db is: 292819
inserted disease: 254090 OMIM #254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD;;MUSCULAR DYSTROPHY, SCLEROATONIC;;ULLRICH DISEASE;;ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY
id in db is: 292820
inserted disease: 614895 OMIM #614895 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F
id in db is: 292821
inserted disease: 2337 ORPHA Non-epidermolytic palmoplantar keratoderma
id in db is: 292822
inserted disease: 2345 ORPHA Isolated Klippel-Feil syndrome
id in db is: 292823
inserted disease: 261000 OMIM #261000 INTRINSIC FACTOR DEFICIENCY; IFD;;PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR
id in db is: 292824
inserted disease: 300494 OMIM ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1
id in db is: 292825
inserted disease: 612591 OMIM #612591 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10;;COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q
id in db is: 292826
inserted disease: 614202 OMIM #614202 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15
id in db is: 292827
inserted disease: 245340 OMIM #245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT;;LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO
id in db is: 292828
inserted disease: 1654 ORPHA Natal teeth-intestinal pseudoobstruction-patent ductus syndrome
id in db is: 292829
inserted disease: 202150 OMIM ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZINGHORMONE
id in db is: 292830
inserted disease: 608940 OMIM #608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD
id in db is: 292831
inserted disease: 615120 OMIM MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8
id in db is: 292832
inserted disease: 146830 OMIM IMMUNE DEFICIENCY, FAMILIAL VARIABLE
id in db is: 292833
inserted disease: 149100 OMIM KNUCKLE PADS
id in db is: 292834
inserted disease: 228560 OMIM 228560 FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES
id in db is: 292835
inserted disease: 480 ORPHA Kearns-Sayre syndrome
id in db is: 292836
inserted disease: 616452 OMIM B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA
id in db is: 292837
inserted disease: 1986 ORPHA Gollop-Wolfgang complex
id in db is: 292838
inserted disease: 284979 ORPHA Neonatal Marfan syndrome
id in db is: 292839
inserted disease: 608415 OMIM BRADYOPSIA
id in db is: 292840
inserted disease: 33355 ORPHA Reticular dysgenesis
id in db is: 292841
inserted disease: 278250 OMIM #278250 WRINKLY SKIN SYNDROME; WSS
id in db is: 292842
inserted disease: 300896 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M
id in db is: 292843
inserted disease: 613977 OMIM #613977 CYANOSIS, TRANSIENT NEONATAL; TNCY
id in db is: 292844
inserted disease: 610313 OMIM #610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2
id in db is: 292845
inserted disease: 601680 OMIM ARTHROGRYPOSIS, DISTAL, TYPE 2B
id in db is: 292846
inserted disease: 166200 OMIM OSTEOGENESIS IMPERFECTA, TYPE I
id in db is: 292847
inserted disease: 613980 OMIM #613980 ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9
id in db is: 292848
inserted disease: 178500 OMIM #178500 PULMONARY FIBROSIS, IDIOPATHIC; IPF;;IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL;;FIBROSING ALVEOLITIS, CRYPTOGENIC;;FIBROCYSTIC PULMONARY DYSPLASIAINTERSTITIAL PNEUMONITIS, USUAL, INCLUDED; UIP, INCLUDED;;HAMMAN-RICH DISEASE, INCLUDED
id in db is: 292849
inserted disease: 1262 ORPHA Böök syndrome
id in db is: 292850
inserted disease: 614844 OMIM #614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED
id in db is: 292851
inserted disease: 611553 OMIM #611553 NOONAN SYNDROME 5; NS5
id in db is: 292852
inserted disease: 112800 OMIM BRACHYDACTYLY, TYPE A4
id in db is: 292853
inserted disease: 246470 OMIM LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER
id in db is: 292854
inserted disease: 376 ORPHA Gordon syndrome
id in db is: 292855
inserted disease: 207 ORPHA Crouzon disease
id in db is: 292856
inserted disease: 609975 OMIM HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4
id in db is: 292857
inserted disease: 63442 ORPHA Angel-shaped phalango-epiphyseal dysplasia
id in db is: 292858
inserted disease: 261990 OMIM PILI TORTI - DEVELOPMENTAL DELAY - NEUROLOGICAL ABNORMALITIES
id in db is: 292859
inserted disease: 615414 OMIM #615414 MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE; MCPH11
id in db is: 292860
inserted disease: 2101 ORPHA Grubben-de Cock-Borghgraef syndrome
id in db is: 292861
inserted disease: 1306 ORPHA Buschke-Ollendorff syndrome
id in db is: 292862
inserted disease: 611092 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6
id in db is: 292863
inserted disease: 225300 OMIM SPLIT-HAND/FOOT MALFORMATION 6
id in db is: 292864
inserted disease: 273300 OMIM TESTICULAR GERM CELL TUMOR; TGCT
id in db is: 292865
inserted disease: 616247 OMIM LONG QT SYNDROME 14; LQT14
id in db is: 292866
inserted disease: 1410 ORPHA Uncombable hair syndrome
id in db is: 292867
inserted disease: 610256 OMIM APHAKIA, CONGENITAL PRIMARY
id in db is: 292868
inserted disease: 1143 ORPHA Neurogenic arthrogryposis multiplex congenita
id in db is: 292869
inserted disease: 612885 OMIM PREMATURE OVARIAN FAILURE 10; POF10
id in db is: 292870
inserted disease: 613307 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
id in db is: 292871
inserted disease: 32 ORPHA Glutathione synthetase deficiency
id in db is: 292872
inserted disease: 96121 ORPHA 7q11.23 microduplication syndrome
id in db is: 292873
inserted disease: 600383 OMIM MESOMELIA-SYNOSTOSES SYNDROME
id in db is: 292874
inserted disease: 201020 OMIM 201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV;;ACPS IV;;GOODMAN SYNDROME
id in db is: 292875
inserted disease: 602342 OMIM %602342 PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY;;PIERPONT SYNDROME
id in db is: 292876
inserted disease: 602772 OMIM #602772 RETINITIS PIGMENTOSA 25; RP25
id in db is: 292877
inserted disease: 102510 OMIM ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF
id in db is: 292878
inserted disease: 184253 OMIM SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE
id in db is: 292879
inserted disease: 276901 OMIM USHER SYNDROME, TYPE IIA
id in db is: 292880
inserted disease: 234050 OMIM #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME;;TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME
id in db is: 292881
inserted disease: 271600 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE
id in db is: 292882
inserted disease: 609166 OMIM %609166 BRANCHIOGENIC-DEAFNESS SYNDROME
id in db is: 292883
inserted disease: 604004 OMIM #604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1;;VACUOLATING MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS;;LVM;;VL;;LEUKOENCEPHALOPATHY WITH SWELLING AND CYSTS;;VAN DER KNAAP DISEASE
id in db is: 292884
inserted disease: 502500 OMIM ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
id in db is: 292885
inserted disease: 229045 OMIM FOCAL EPITHELIAL HYPERPLASIA, ORAL
id in db is: 292886
inserted disease: 161800 OMIM NEMALINE MYOPATHY 3; NEM3
id in db is: 292887
inserted disease: 614171 OMIM HERMANSKY-PUDLAK SYNDROME 9; HPS9
id in db is: 292888
inserted disease: 602083 OMIM USHER SYNDROME, TYPE IF
id in db is: 292889
inserted disease: 615816 OMIM IMMUNODEFICIENCY 23; IMD23
id in db is: 292890
inserted disease: 612300 OMIM HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY; HACD59
id in db is: 292891
inserted disease: 226980 OMIM EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
id in db is: 292892
inserted disease: 227000 OMIM ERYTHEMA OF ACRAL REGIONS
id in db is: 292893
inserted disease: 158676 ORPHA Dystrophic epidermolysis bullosa, nails only
id in db is: 292894
inserted disease: 194072 OMIM #194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME; WAGR;;WAGR SYNDROME;;CHROMOSOME 11p13 DELETION SYNDROME
id in db is: 292895
inserted disease: 600901 OMIM #600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE;;FACE
id in db is: 292896
inserted disease: 2781 ORPHA Osteopetrosis
id in db is: 292897
inserted disease: 209943 ORPHA IRVAN syndrome
id in db is: 292898
inserted disease: 643 ORPHA Giant axonal neuropathy
id in db is: 292899
inserted disease: 86923 ORPHA Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
id in db is: 292900
inserted disease: 275550 OMIM %275550 TRICHORRHEXIS NODOSA SYNDROME;;POLLITT SYNDROME;;TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME
id in db is: 292901
inserted disease: 910 ORPHA Xeroderma pigmentosum
id in db is: 292902
inserted disease: 303 ORPHA Dystrophic epidermolysis bullosa
id in db is: 292903
inserted disease: 235900 OMIM HISTIOCYTOSIS, FAMILIAL LIPOCHROME
id in db is: 292904
inserted disease: 301500 OMIM #301500 FABRY DISEASE;;ANGIOKERATOMA CORPORIS DIFFUSUM;;ANDERSON-FABRY DISEASE;;HEREDITARY DYSTOPIC LIPIDOSIS;;ALPHA-GALACTOSIDASE A DEFICIENCY;;GLA DEFICIENCY;;CERAMIDE TRIHEXOSIDASE DEFICIENCYFABRY DISEASE, CARDIAC VARIANT, INCLUDED
id in db is: 292905
inserted disease: 176920 OMIM PROTEUS SYNDROME
id in db is: 292906
inserted disease: 242520 OMIM ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION
id in db is: 292907
inserted disease: 176800 OMIM 176800 PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF
id in db is: 292908
inserted disease: 2508 ORPHA Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
id in db is: 292909
inserted disease: 310370 OMIM 310370 MYOCLONIC EPILEPSY, PROGRESSIVE
id in db is: 292910
inserted disease: 3353 ORPHA Trichodermodysplasia-dental alterations syndrome
id in db is: 292911
inserted disease: 99879 ORPHA Familial isolated hyperparathyroidism
id in db is: 292912
inserted disease: 122000 OMIM CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
id in db is: 292913
inserted disease: 768 ORPHA Familial long QT syndrome
id in db is: 292914
inserted disease: 2662 ORPHA Keipert syndrome
id in db is: 292915
inserted disease: 300211 OMIM %300211 EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX
id in db is: 292916
inserted disease: 608645 OMIM %608645 DEAFNESS, AUTOSOMAL DOMINANT 31; DFNA31
id in db is: 292917
inserted disease: 1574 ORPHA Retinal degeneration-nanophthalmos-glaucoma syndrome
id in db is: 292918
inserted disease: 185020 OMIM #185020 CRYOHYDROCYTOSIS; CHC;;STOMATOCYTOSIS, COLD-SENSITIVE
id in db is: 292919
inserted disease: 615685 OMIM SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE; SPG61
id in db is: 292920
inserted disease: 313900 OMIM THROMBOCYTOPENIA 1
id in db is: 292921
inserted disease: 610883 OMIM #610883 POTOCKI-LUPSKI SYNDROME; PTLS;;CHROMOSOME 17p11.2 DUPLICATION SYNDROME
id in db is: 292922
inserted disease: 616606 OMIM RING CHROMOSOME 14 SYNDROME
id in db is: 292923
inserted disease: 1540 ORPHA Jackson-Weiss syndrome
id in db is: 292924
inserted disease: 102730 OMIM ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO
id in db is: 292925
inserted disease: 616539 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26
id in db is: 292926
inserted disease: 125480 OMIM MAJOR AFFECTIVE DISORDER 1
id in db is: 292927
inserted disease: 272600 OMIM 272600 TAPETORETINAL DEGENERATION WITH ATAXIA
id in db is: 292928
inserted disease: 608578 OMIM SHORT STATURE - INTELLECTUAL DISABILITY - EYE ANOMALIES - CLEFT LIP/PALATE
id in db is: 292929
inserted disease: 607791 OMIM CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
id in db is: 292930
inserted disease: 126070 OMIM DILUTION, PIGMENTARY
id in db is: 292931
inserted disease: 260300 OMIM #260300 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15;;PARKINSONIAN-PYRAMIDAL SYNDROME; PKPS;;PALLIDOPYRAMIDAL SYNDROME;;PALLIDO-PYRAMIDAL SYNDROME
id in db is: 292932
inserted disease: 165200 OMIM 165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS
id in db is: 292933
inserted disease: 604326 OMIM SPINOCEREBELLAR ATAXIA 12
id in db is: 292934
inserted disease: 97282 ORPHA VIPoma
id in db is: 292935
inserted disease: 179840 OMIM RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
id in db is: 292936
inserted disease: 616680 OMIM #616680 SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE; SPG75
id in db is: 292937
inserted disease: 183849 OMIM SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS
id in db is: 292938
inserted disease: 616559 OMIM NOONAN SYNDROME 9; NS9
id in db is: 292939
inserted disease: 178333 ORPHA Åland Islands eye disease
id in db is: 292940
inserted disease: 324416 ORPHA Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
id in db is: 292941
inserted disease: 154780 OMIM #154780 MARSHALL SYNDROME; MRSHS
id in db is: 292942
inserted disease: 409 ORPHA Hyperkeratosis lenticularis perstans
id in db is: 292943
inserted disease: 109050 OMIM AUROCEPHALOSYNDACTYLY
id in db is: 292944
inserted disease: 125851 OMIM MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
id in db is: 292945
inserted disease: 158170 OMIM #158170 CHROMOSOME 9p DELETION SYNDROME;;MONOSOMY 9p SYNDROME
id in db is: 292946
inserted disease: 85280 ORPHA X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
id in db is: 292947
inserted disease: 230450 OMIM GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUETO
id in db is: 292948
inserted disease: 601777 OMIM CONE-ROD DYSTROPHY 6
id in db is: 292949
inserted disease: 610021 OMIM HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7
id in db is: 292950
inserted disease: 615752 OMIM #615752 POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR ;;PMGR
id in db is: 292951
inserted disease: 238710 OMIM HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA
id in db is: 292952
inserted disease: 137245 OMIM 137245 GASTRIC LYMPHOMA, PRIMARY
id in db is: 292953
inserted disease: 75234 ORPHA Cholesteryl ester storage disease
id in db is: 292954
inserted disease: 257960 OMIM 257960 OCULOTRICHODYSPLASIA; OTD
id in db is: 292955
inserted disease: 607323 OMIM #607323 DUANE-RADIAL RAY SYNDROME; DRRS;;OKIHIRO SYNDROME;;DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS;;DR SYNDROME;;ACRORENOOCULAR SYNDROME
id in db is: 292956
inserted disease: 255710 OMIM MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION
id in db is: 292957
inserted disease: 2491 ORPHA Müllerian duct anomalies-limb anomalies syndrome
id in db is: 292958
inserted disease: 109160 OMIM %109160 AZOTEMIA, FAMILIAL
id in db is: 292959
inserted disease: 210720 OMIM MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2
id in db is: 292960
inserted disease: 1997 ORPHA Blepharo-cheilo-odontic syndrome
id in db is: 292961
inserted disease: 616078 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29
id in db is: 292962
inserted disease: 239300 OMIM #239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1;;MABRY SYNDROME
id in db is: 292963
inserted disease: 1508 ORPHA Coxoauricular syndrome
id in db is: 292964
inserted disease: 270 ORPHA Oculopharyngeal muscular dystrophy
id in db is: 292965
inserted disease: 165199 OMIM OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALDOMINANT
id in db is: 292966
inserted disease: 240500 OMIM #240500 IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2;;ANTIBODY DEFICIENCY DUE TO TACI DEFECT;;HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY
id in db is: 292967
inserted disease: 616516 OMIM #616516 EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3
id in db is: 292968
inserted disease: 258660 OMIM NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
id in db is: 292969
inserted disease: 613860 OMIM #613860 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY;;FICOLIN 3 DEFICIENCY;;FCN3 DEFICIENCY
id in db is: 292970
inserted disease: 607681 OMIM EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2
id in db is: 292971
inserted disease: 608097 OMIM PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM
id in db is: 292972
inserted disease: 602501 OMIM #602501 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP;;MACROCEPHALY-CAPILLARY MALFORMATION; MCM;;MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME;;MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; MCMTC;;MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
id in db is: 292973
inserted disease: 1779 ORPHA Dysmorphism-cleft palate-loose skin syndrome
id in db is: 292974
inserted disease: 615181 OMIM #615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11; MDDGA11
id in db is: 292975
inserted disease: 1132 ORPHA Aortic arch defects
id in db is: 292976
inserted disease: 609924 OMIM AMINOACYLASE 1 DEFICIENCY
id in db is: 292977
inserted disease: 250250 OMIM CARTILAGE-HAIR HYPOPLASIA
id in db is: 292978
inserted disease: 216360 OMIM #216360 COACH SYNDROME;;CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULARCOLOBOMA, AND HEPATIC FIBROSIS;;JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS
id in db is: 292979
inserted disease: 259100 OMIM HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE
id in db is: 292980
inserted disease: 214110 OMIM #214110 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2, INCLUDED;CG2, INCLUDED
id in db is: 292981
inserted disease: 601360 OMIM AMELIA, AUTOSOMAL RECESSIVE
id in db is: 292982
inserted disease: 613412 OMIM %613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2
id in db is: 292983
inserted disease: 615127 OMIM EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4; FAME4
id in db is: 292984
inserted disease: 79094 ORPHA Grange syndrome
id in db is: 292985
inserted disease: 607236 OMIM HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION
id in db is: 292986
inserted disease: 609620 OMIM #609620 SHORT QT SYNDROME 1; SQT1
id in db is: 292987
inserted disease: 185000 OMIM #185000 OVERHYDRATED HEREDITARY STOMATOCYTOSIS; OHS;;POTASSIUM-SODIUM DISORDER OF ERYTHROCYTE
id in db is: 292988
inserted disease: 71519 ORPHA Psychogenic movement disorders
id in db is: 292989
inserted disease: 605431 OMIM *605431 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 3; MAPK8IP3;;SUNDAY DRIVER, DROSOPHILA, HOMOLOG OF, 2; SYD2;;JNK/STRESS-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; JSAP1;;JNK-INTERACTING PROTEIN 3; JIP3
id in db is: 292990
inserted disease: 612 ORPHA Potassium-aggravated myotonia
id in db is: 292991
inserted disease: 604841 OMIM #604841 STICKLER SYNDROME, TYPE II; STL2;;STICKLER SYNDROME, VITREOUS TYPE 2;;STICKLER SYNDROME, BEADED VITREOUS TYPE
id in db is: 292992
inserted disease: 608184 OMIM IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 4
id in db is: 292993
inserted disease: 475 ORPHA Joubert syndrome
id in db is: 292994
inserted disease: 98293 ORPHA Hodgkin lymphoma
id in db is: 292995
inserted disease: 616212 OMIM LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6
id in db is: 292996
inserted disease: 130180 OMIM ELECTROENCEPHALOGRAM, LOW-VOLTAGE
id in db is: 292997
inserted disease: 615217 OMIM ATAXIA-OCULOMOTOR APRAXIA 3; AOA3
id in db is: 292998
inserted disease: 300558 OMIM #300558 MENTAL RETARDATION, X-LINKED 30; MRX30;;MENTAL RETARDATION, X-LINKED 47; MRX47
id in db is: 292999
inserted disease: 615926 OMIM WEBB-DATTANI SYNDROME; WEDAS
id in db is: 293000
inserted disease: 616570 OMIM CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3
id in db is: 293001
inserted disease: 614514 OMIM THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6
id in db is: 293002
inserted disease: 29207 ORPHA Reactive arthritis
id in db is: 293003
inserted disease: 613987 OMIM #613987 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2; DKCB2
id in db is: 293004
inserted disease: 3265 ORPHA Humero-radial synostosis
id in db is: 293005
inserted disease: 250951 OMIM 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV
id in db is: 293006
inserted disease: 161900 OMIM %161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; RFH1;;NEPHROPATHY, FAMILIAL;;NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT;;RENAL FAILURE, ADULT-ONSET; AORF
id in db is: 293007
inserted disease: 607016 OMIM #607016 SCHEIE SYNDROME;;MUCOPOLYSACCHARIDOSIS TYPE IS; MPS1-S;;MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY;;MPS V, FORMERLY; MPS5, FORMERLY
id in db is: 293008
inserted disease: 1555 ORPHA Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
id in db is: 293009
inserted disease: 254940 OMIM 254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBINSEQUENCE;;CAREY-FINEMAN-ZITER SYNDROME;;CFZ SYNDROME
id in db is: 293010
inserted disease: 615879 OMIM TATTON-BROWN-RAHMAN SYNDROME; TBRS
id in db is: 293011
inserted disease: 152550 OMIM LUMBAR STENOSIS, FAMILIAL
id in db is: 293012
inserted disease: 613105 OMIM CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2
id in db is: 293013
inserted disease: 614100 OMIM %614100 CUTIS LAXA, NEONATAL, WITH MARFANOID PHENOTYPE;;CUTIS LAXA-MARFANOID SYNDROME
id in db is: 293014
inserted disease: 108370 OMIM ASPARAGINE SYNTHETASE
id in db is: 293015
inserted disease: 126180 OMIM DISCRIMINATION, TWO-POINT, REDUCTION IN
id in db is: 293016
inserted disease: 3329 ORPHA Tibial aplasia-ectrodactyly syndrome
id in db is: 293017
inserted disease: 613970 OMIM #613970 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6
id in db is: 293018
inserted disease: 609258 OMIM %609258 MYOPIA 9; MYP9
id in db is: 293019
inserted disease: 613388 OMIM #613388 FANCONI RENOTUBULAR SYNDROME 2; FRTS2
id in db is: 293020
inserted disease: 103100 OMIM ADIE PUPIL
id in db is: 293021
inserted disease: 601068 OMIM EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1
id in db is: 293022
inserted disease: 606843 OMIM IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3
id in db is: 293023
inserted disease: 115400 OMIM CARPAL DISPLACEMENT
id in db is: 293024
inserted disease: 122460 OMIM CORONAVIRUS 229E SUSCEPTIBILITY
id in db is: 293025
inserted disease: 616342 OMIM LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7
id in db is: 293026
inserted disease: 308905 OMIM LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO
id in db is: 293027
inserted disease: 243100 OMIM INTERNAL CAROTID ARTERIES, HYPOPLASIA OF
id in db is: 293028
inserted disease: 615465 OMIM #615465 HARTSFIELD SYNDROME; HRTFDS;;HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
id in db is: 293029
inserted disease: 151630 OMIM LIP, MEDIAN NODULE OF UPPER
id in db is: 293030
inserted disease: 613573 OMIM #613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1
id in db is: 293031
inserted disease: 613829 OMIM #613829 LEBER CONGENITAL AMAUROSIS 7; LCA7
id in db is: 293032
inserted disease: 55 ORPHA Oculocutaneous albinism
id in db is: 293033
inserted disease: 1166 ORPHA Congenital unilateral hypoplasia of depressor anguli oris
id in db is: 293034
inserted disease: 1745 ORPHA Distal trisomy 6p
id in db is: 293035
inserted disease: 122440 OMIM 122440 CORNEODERMATOOSSEOUS SYNDROME;;CDO SYNDROME;;CORNEAL DYSTROPHY, EPITHELIAL, WITH SKIN AND SKELETAL CHANGES
id in db is: 293036
inserted disease: 613550 OMIM #613550 NEPHRONOPHTHISIS 11; NPHP11
id in db is: 293037
inserted disease: 63862 ORPHA Schisis association
id in db is: 293038
inserted disease: 87503 ORPHA Mal de Meleda
id in db is: 293039
inserted disease: 90342 ORPHA Xeroderma pigmentosum variant
id in db is: 293040
inserted disease: 108390 OMIM ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY
id in db is: 293041
inserted disease: 608358 OMIM #608358 MYOPATHY, MYOSIN STORAGE;;MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT
id in db is: 293042
inserted disease: 540000 OMIM MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS
id in db is: 293043
inserted disease: 553000 OMIM ONCOCYTOMA
id in db is: 293044
inserted disease: 46059 ORPHA Lathosterolosis
id in db is: 293045
inserted disease: 226650 OMIM EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
id in db is: 293046
inserted disease: 612089 OMIM HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM
id in db is: 293047
inserted disease: 3143 ORPHA Autoimmune polyendocrinopathy type 2
id in db is: 293048
inserted disease: 158280 OMIM MOTION SICKNESS
id in db is: 293049
inserted disease: 613148 OMIM #613148 INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28;;INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE
id in db is: 293050
inserted disease: 79402 ORPHA Generalized junctional epidermolysis bullosa, non-Herlitz type
id in db is: 293051
inserted disease: 167320 OMIM #167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA; IBMPFD;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE;;PAGETOID AMYOTROPHIC LATERAL SCLEROSIS;;PAGETOID NEUROSKELETAL SYNDROME;;LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE
id in db is: 293052
inserted disease: 168000 OMIM PARAGANGLIOMAS 1
id in db is: 293053
inserted disease: 257980 OMIM ODONTOONYCHODERMAL DYSPLASIA; OODD
id in db is: 293054
inserted disease: 245660 OMIM LARYNGOONYCHOCUTANEOUS SYNDROME
id in db is: 293055
inserted disease: 613345 OMIM HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2
id in db is: 293056
inserted disease: 158687 ORPHA Lethal acantholytic epidermolysis bullosa
id in db is: 293057
inserted disease: 187360 OMIM TEMPORAL ARTERITIS
id in db is: 293058
inserted disease: 275220 OMIM 275220 TIBIAL HEMIMELIA;;THM;;TIBIA, ABSENCE OF
id in db is: 293059
inserted disease: 615237 OMIM CONGENITAL SHORT BOWEL SYNDROME; CSBS
id in db is: 293060
inserted disease: 233690 OMIM GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE
id in db is: 293061
inserted disease: 615972 OMIM NANOPHTHALMOS 4; NNO4
id in db is: 293062
inserted disease: 93311 ORPHA Multiple epiphyseal dysplasia type 5
id in db is: 293063
inserted disease: 615595 OMIM #615595 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19
id in db is: 293064
inserted disease: 2908 ORPHA Kindler syndrome
id in db is: 293065
inserted disease: 1350 ORPHA Heart-hand syndrome type 2
id in db is: 293066
inserted disease: 66628 ORPHA Obesity due to congenital leptin deficiency
id in db is: 293067
inserted disease: 616145 OMIM CATEL-MANZKE SYNDROME; CATMANS
id in db is: 293068
inserted disease: 300868 OMIM #300868 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20; EIEE20
id in db is: 293069
inserted disease: 209300 OMIM ATRANSFERRINEMIA
id in db is: 293070
inserted disease: 300912 OMIM MENTAL RETARDATION, X-LINKED 98; MRX98
id in db is: 293071
inserted disease: 79395 ORPHA Keratoderma hereditarium mutilans with ichthyosis
id in db is: 293072
inserted disease: 118330 OMIM CHEILITIS GLANDULARIS
id in db is: 293073
inserted disease: 368 ORPHA Glycogen storage disease due to muscle glycogen phosphorylase deficiency
id in db is: 293074
inserted disease: 118750 OMIM CHOREOATHETOSIS, FAMILIAL INVERTED
id in db is: 293075
inserted disease: 611571 OMIM OTOSCLEROSIS 4
id in db is: 293076
inserted disease: 613660 OMIM #613660 CONE-ROD DYSTROPHY 15; CORD15RETINITIS PIGMENTOSA 65, INCLUDED; RP65, INCLUDED
id in db is: 293077
inserted disease: 614296 OMIM WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL
id in db is: 293078
inserted disease: 614340 OMIM #614340 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27
id in db is: 293079
inserted disease: 170100 OMIM #170100 PROLIDASE DEFICIENCY
id in db is: 293080
inserted disease: 148200 OMIM KERATITIS FUGAX HEREDITARIA
id in db is: 293081
inserted disease: 602477 OMIM FEBRILE SEIZURES, FAMILIAL, 2; FEB2
id in db is: 293082
inserted disease: 278150 OMIM #278150 HYPOTRICHOSIS 8; HYPT8;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3; LAH3WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS,INCLUDED; ARWH1, INCLUDED
id in db is: 293083
inserted disease: 905 ORPHA Wilson disease
id in db is: 293084
inserted disease: 155240 OMIM THYROID CARCINOMA, FAMILIAL MEDULLARY
id in db is: 293085
inserted disease: 770 ORPHA Rabies
id in db is: 293086
inserted disease: 136120 OMIM FISH-EYE DISEASE
id in db is: 293087
inserted disease: 246450 OMIM #246450 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD;;HMG-CoA LYASE DEFICIENCY;;HMGCL DEFICIENCY;;HL DEFICIENCY;;HYDROXYMETHYLGLUTARIC ACIDURIA
id in db is: 293088
inserted disease: 3314 ORPHA Thiemann disease, familial form
id in db is: 293089
inserted disease: 219070 OMIM CURVED NAIL OF FOURTH TOE
id in db is: 293090
inserted disease: 616229 OMIM OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16
id in db is: 293091
inserted disease: 614115 OMIM #614115 CORTICAL MALFORMATIONS, OCCIPITAL; OCCM
id in db is: 293092
inserted disease: 181405 OMIM #181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA;;AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE
id in db is: 293093
inserted disease: 258200 OMIM OLIVER SYNDROME
id in db is: 293094
inserted disease: 36397 ORPHA Adiposis dolorosa
id in db is: 293095
inserted disease: 615918 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21
id in db is: 293096
inserted disease: 164300 OMIM #164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD;;MUSCULAR DYSTROPHY, OCULOPHARYNGEAL
id in db is: 293097
inserted disease: 176600 OMIM PRESENILE DEMENTIA, KRAEPELIN TYPE
id in db is: 293098
inserted disease: 123450 OMIM CRI-DU-CHAT SYNDROME
id in db is: 293099
inserted disease: 174900 OMIM #174900 JUVENILE POLYPOSIS SYNDROME; JPS;;POLYPOSIS, JUVENILE INTESTINAL; PJI;;JUVENILE INTESTINAL POLYPOSIS; JIP;;POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACTJUVENILE POLYPOSIS OF STOMACH, INCLUDED;;JUVENILE POLYPOSIS COLI, INCLUDED
id in db is: 293100
inserted disease: 605280 OMIM SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
id in db is: 293101
inserted disease: 217377 ORPHA Microduplication Xp11.22-p11.23 syndrome
id in db is: 293102
inserted disease: 135750 OMIM %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
id in db is: 293103
inserted disease: 251260 OMIM NIJMEGEN BREAKAGE SYNDROME
id in db is: 293104
inserted disease: 613194 OMIM #613194 RETINITIS PIGMENTOSA 50; RP50RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
id in db is: 293105
inserted disease: 610092 OMIM #610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3;;MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES, INCLUDED
id in db is: 293106
inserted disease: 256500 OMIM #256500 NETHERTON SYNDROME; NETH;;NS;;NETHERTON DISEASE
id in db is: 293107
inserted disease: 615504 OMIM CILIARY DYSKINESIA, PRIMARY, 27; CILD27
id in db is: 293108
inserted disease: 162600 OMIM NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE
id in db is: 293109
inserted disease: 2989 ORPHA Familial pterygium of the conjunctiva
id in db is: 293110
inserted disease: 609310 OMIM #609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2;;COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; FCC2;;COCA2
id in db is: 293111
inserted disease: 259450 OMIM #259450 BRUCK SYNDROME 1; BRKS1
id in db is: 293112
inserted disease: 614135 OMIM #614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6
id in db is: 293113
inserted disease: 186570 OMIM #186570 TARSAL-CARPAL COALITION SYNDROME; TCC; SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED
id in db is: 293114
inserted disease: 610725 OMIM #610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3;;NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3
id in db is: 293115
inserted disease: 609637 OMIM #609637 HOLOPROSENCEPHALY 5; HPE5
id in db is: 293116
inserted disease: 600145 OMIM SACRAL DEFECT WITH ANTERIOR MENINGOCELE
id in db is: 293117
inserted disease: 682 ORPHA Hyperkalemic periodic paralysis
id in db is: 293118
inserted disease: 700 ORPHA Alopecia totalis
id in db is: 293119
inserted disease: 208530 OMIM #208530 RIGHT ATRIAL ISOMERISM; RAI;;ASPLENIA WITH CARDIOVASCULAR ANOMALIES;;IVEMARK SYNDROMEPOLYSPLENIA SYNDROME, INCLUDED;;POLYASPLENIA, INCLUDED;;HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE, INCLUDED;;VAH, AUTOSOMAL RECESSIVE, INCLUDED
id in db is: 293120
inserted disease: 500001 OMIM LEBER OPTIC ATROPHY AND DYSTONIA
id in db is: 293121
inserted disease: 137575 OMIM GIGANTIFORM CEMENTOMA, FAMILIAL
id in db is: 293122
inserted disease: 194090 OMIM WILMS TUMOR 3
id in db is: 293123
inserted disease: 600593 OMIM CRANIOSYNOSTOSIS, ADELAIDE TYPE
id in db is: 293124
inserted disease: 213980 OMIM CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR
id in db is: 293125
inserted disease: 79329 ORPHA MGAT2-CDG
id in db is: 293126
inserted disease: 150300 OMIM LARYNX, CONGENITAL PARTIAL ATRESIA OF
id in db is: 293127
inserted disease: 285 ORPHA Ehlers-Danlos syndrome, hypermobility type
id in db is: 293128
inserted disease: 116 ORPHA Beckwith-Wiedemann syndrome
id in db is: 293129
inserted disease: 191482 OMIM 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, ANDBRACHYDACTYLY;;BORK SYNDROME
id in db is: 293130
inserted disease: 268800 OMIM SANDHOFF DISEASE
id in db is: 293131
inserted disease: 612527 OMIM #612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4
id in db is: 293132
inserted disease: 275200 OMIM #275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1;;THYROTROPIN RESISTANCE;;THYROID-STIMULATING HORMONE, RESISTANCE TO; RTSH;;TSH RESISTANCE;;HYPOTHYROIDISM, NONAUTOIMMUNE;;HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE;;HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN
id in db is: 293133
inserted disease: 616721 OMIM #616721 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N;;CDG IIn; CDGIIn
id in db is: 293134
inserted disease: 247150 OMIM 247150 LIP PRINTS
id in db is: 293135
inserted disease: 134520 OMIM FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF
id in db is: 293136
inserted disease: 215030 OMIM 215030 CHOLESTEROL PNEUMONIA
id in db is: 293137
inserted disease: 260540 OMIM #260540 PARKINSON-DEMENTIA SYNDROMESUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL, INCLUDED;;STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL, INCLUDED
id in db is: 293138
inserted disease: 607476 OMIM #607476 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD
id in db is: 293139
inserted disease: 1452 ORPHA Cleidocranial dysplasia
id in db is: 293140
inserted disease: 120430 OMIM COLOBOMA OF OPTIC NERVEOPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED
id in db is: 293141
inserted disease: 614742 OMIM #614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1;PFBMFT1
id in db is: 293142
inserted disease: 613916 OMIM %613916 DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89
id in db is: 293143
inserted disease: 614207 OMIM #614207 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3;;MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17; MRT17;;MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21; MRT21
id in db is: 293144
inserted disease: 75392 ORPHA Ehlers-Danlos syndrome, periodontitis type
id in db is: 293145
inserted disease: 2547 ORPHA Microphthalmia-microtia-fetal akinesia syndrome
id in db is: 293146
inserted disease: 209850 OMIM AUTISM
id in db is: 293147
inserted disease: 606658 OMIM SPINOCEREBELLAR ATAXIA 15
id in db is: 293148
inserted disease: 2750 ORPHA Orofaciodigital syndrome type 1
id in db is: 293149
inserted disease: 226100 OMIM ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA
id in db is: 293150
inserted disease: 248390 OMIM #248390 TREACHER COLLINS SYNDROME 3; TCS3;;MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE
id in db is: 293151
inserted disease: 614158 OMIM 614158 BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14;;THROMBOXANE SYNTHETASE DEFICIENCY
id in db is: 293152
inserted disease: 607855 OMIM #607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A;;MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENTMUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, INCLUDED
id in db is: 293153
inserted disease: 2021 ORPHA Fibrochondrogenesis
id in db is: 293154
inserted disease: 242510 OMIM ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION
id in db is: 293155
inserted disease: 612310 OMIM #612310 PREMATURE OVARIAN FAILURE 6; POF6
id in db is: 293156
inserted disease: 612975 OMIM SHORT SLEEPER
id in db is: 293157
inserted disease: 261290 ORPHA Trisomy 17p
id in db is: 293158
inserted disease: 612353 OMIM %612353 POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK6;;POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4; DSAP4
id in db is: 293159
inserted disease: 608471 OMIM #608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A;;LATTICE CORNEAL DYSTROPHY, TYPE IIIA
id in db is: 293160
inserted disease: 102400 OMIM ACROOSTEOLYSIS
id in db is: 293161
inserted disease: 104200 OMIM #104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT
id in db is: 293162
inserted disease: 603165 OMIM %603165 DERMATITIS, ATOPIC;;ATOD;;ECZEMA, ATOPICDERMATITIS, ATOPIC, 1, INCLUDED; ATOD1, INCLUDED
id in db is: 293163
inserted disease: 615547 OMIM #615547 PRADER-WILLI-LIKE SYNDROME; PWLS
id in db is: 293164
inserted disease: 253700 OMIM #253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C;;MUSCULAR DYSTROPHY, DUCHENNE-LIKE;;DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1; DMDA1;;DMDA;;ADHALIN DEFICIENCY, SECONDARY;;SARCOGLYCAN, GAMMA, DEFICIENCY OF;;SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICANTYPE; SCARMD;;MAGHREBIAN MYOPATHY
id in db is: 293165
inserted disease: 107690 OMIM APOLIPOPROTEIN A-IV
id in db is: 293166
inserted disease: 267700 OMIM %267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1;;HPLH1;;HLH1;;HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FHL; FHLH; HPLH;;RETICULOSIS, FAMILIAL HISTIOCYTIC;;HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL;;ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FEL
id in db is: 293167
inserted disease: 2083 ORPHA Prominent glabella-microcephaly-hypogenitalism syndrome
id in db is: 293168
inserted disease: 610768 OMIM #610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M;;CDG Im; CDGIm;;DOLICHOL KINASE DEFICIENCY;;DK1 DEFICIENCY
id in db is: 293169
inserted disease: 111150 OMIM BLOOD GROUP--LUTHERAN INHIBITOR; INLU
id in db is: 293170
inserted disease: 614033 OMIM HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY
id in db is: 293171
inserted disease: 167870 OMIM PANIC DISORDER 1
id in db is: 293172
inserted disease: 1519 ORPHA Hypertelorism, Teebi type
id in db is: 293173
inserted disease: 615330 OMIM #615330 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3
id in db is: 293174
inserted disease: 600652 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4
id in db is: 293175
inserted disease: 610505 OMIM #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS
id in db is: 293176
inserted disease: 289522 ORPHA Microtriplication 11q24.1
id in db is: 293177
inserted disease: 154230 OMIM 46,XY SEX REVERSAL 4; SRXY4
id in db is: 293178
inserted disease: 612952 OMIM #612952 AICARDI-GOUTIERES SYNDROME 5; AGS5
id in db is: 293179
inserted disease: 392 ORPHA Holt-Oram syndrome
id in db is: 293180
inserted disease: 229120 OMIM FOUNTAIN SYNDROME
id in db is: 293181
inserted disease: 75563 ORPHA X-linked sideroblastic anemia
id in db is: 293182
inserted disease: 302300 OMIM ^302300 MOVED TO 302200
id in db is: 293183
inserted disease: 223 ORPHA Nephrogenic diabetes insipidus
id in db is: 293184
inserted disease: 614076 OMIM #614076 HERMANSKY-PUDLAK SYNDROME 7; HPS7
id in db is: 293185
inserted disease: 314600 OMIM WILDERVANCK SYNDROME
id in db is: 293186
inserted disease: 612376 OMIM #612376 ACUTE PROMYELOCYTIC LEUKEMIA; APL;;LEUKEMIA, ACUTE PROMYELOCYTIC
id in db is: 293187
inserted disease: 175900 OMIM #175900 POROKERATOSIS 3, MULTIPLE TYPES; POROK3;;POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1
id in db is: 293188
inserted disease: 289548 ORPHA Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
id in db is: 293189
inserted disease: 952 ORPHA Acrofacial dysostosis, Weyers type
id in db is: 293190
inserted disease: 300493 ORPHA Sagliker syndrome
id in db is: 293191
inserted disease: 119100 OMIM SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1
id in db is: 293192
inserted disease: 609241 OMIM SCHINDLER DISEASE, TYPE I
id in db is: 293193
inserted disease: 1296 ORPHA Lambert syndrome
id in db is: 293194
inserted disease: 616055 OMIM EPISODIC ATAXIA, TYPE 8; EA8
id in db is: 293195
inserted disease: 193090 OMIM %193090 TRANSCOBALAMIN I DEFICIENCY;;TCN1 DEFICIENCY;;COBALAMIN PSEUDODEFICIENCY DUE TO TRANSCOBALAMIN DEFICIENCY;;COBALAMIN R BINDER PROTEIN DEFICIENCYTRANSCOBALAMIN I DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED;;R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED
id in db is: 293196
inserted disease: 121200 OMIM #121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED
id in db is: 293197
inserted disease: 611284 OMIM DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD
id in db is: 293198
inserted disease: 601202 OMIM CATARACT, ANTERIOR POLAR, 2
id in db is: 293199
inserted disease: 134430 OMIM FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF
id in db is: 293200
inserted disease: 607174 OMIM #607174 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
id in db is: 293201
inserted disease: 613502 OMIM #613502 AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT
id in db is: 293202
inserted disease: 101400 OMIM #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
id in db is: 293203
inserted disease: 256720 OMIM 256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY
id in db is: 293204
inserted disease: 608266 OMIM #608266 PARATHYROID CARCINOMA;;PRTC
id in db is: 293205
inserted disease: 615373 OMIM LEFT VENTRICULAR NONCOMPACTION 8; LVNC8
id in db is: 293206
inserted disease: 277450 OMIM VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
id in db is: 293207
inserted disease: 612271 OMIM #612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11;;MELANESIAN BLOND HAIR;;SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES
id in db is: 293208
inserted disease: 1008 ORPHA Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
id in db is: 293209
inserted disease: 612581 OMIM #612581 MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4
id in db is: 293210
inserted disease: 615350 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14
id in db is: 293211
inserted disease: 79314 ORPHA L-2-hydroxyglutaric aciduria
id in db is: 293212
inserted disease: 1467 ORPHA Cogan syndrome
id in db is: 293213
inserted disease: 300476 OMIM #300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
id in db is: 293214
inserted disease: 616098 OMIM IMMUNODEFICIENCY 37; IMD37
id in db is: 293215
inserted disease: 607131 OMIM AL-GAZALI-BAKALINOVA SYNDROME; AGBK
id in db is: 293216
inserted disease: 238950 OMIM HYPEROPIA, HIGH
id in db is: 293217
inserted disease: 601616 OMIM IRIS PIGMENT EPITHELIUM ANOMALIES
id in db is: 293218
inserted disease: 614227 OMIM %614227 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3
id in db is: 293219
inserted disease: 236700 OMIM #236700 MCKUSICK-KAUFMAN SYNDROME; MKKS;;HYDROMETROCOLPOS SYNDROME;;HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION;HMCS;;KAUFMAN-MCKUSICK SYNDROME
id in db is: 293220
inserted disease: 2867 ORPHA Short stature, Brussels type
id in db is: 293221
inserted disease: 85278 ORPHA Christianson syndrome
id in db is: 293222
inserted disease: 600880 OMIM BUDD-CHIARI SYNDROMEMEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED
id in db is: 293223
inserted disease: 1952 ORPHA Pacman dysplasia
id in db is: 293224
inserted disease: 600373 OMIM #600373 CODAS SYNDROME;;CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME
id in db is: 293225
inserted disease: 191900 OMIM #191900 MUCKLE-WELLS SYNDROME; MWS;;URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME;;UDA SYNDROME;;CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2; CAPS2
id in db is: 293226
inserted disease: 614053 OMIM #614053 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3;MC5DN3;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE
id in db is: 293227
inserted disease: 34 DECIPHER Potocki-Shaffer syndrome
id in db is: 293228
inserted disease: 2190 ORPHA Congenital hydronephrosis
id in db is: 293229
inserted disease: 2036 ORPHA Scalp-ear-nipple syndrome
id in db is: 293230
inserted disease: 613286 OMIM #613286 CARDIOMYOPATHY, DILATED, 1FF; CMD1FF
id in db is: 293231
inserted disease: 612712 OMIM #612712 LEBER CONGENITAL AMAUROSIS 13; LCA13RETINITIS PIGMENTOSA 53, INCLUDED; RP53, INCLUDED
id in db is: 293232
inserted disease: 606070 OMIM #606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21;;MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;;VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY;VCPDM, FORMERLY
id in db is: 293233
inserted disease: 207620 OMIM 207620 APHALANGY WITH HEMIVERTEBRAE
id in db is: 293234
inserted disease: 605249 OMIM #605249 SEBASTIAN SYNDROME; SBS;;SEBASTIAN PLATELET SYNDROME;;MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS
id in db is: 293235
inserted disease: 614583 OMIM #614583 BARAITSER-WINTER SYNDROME 2; BRWS2
id in db is: 293236
inserted disease: 116950 OMIM 116950 TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T;;CELL CYCLE CONTROLLER, G1
id in db is: 293237
inserted disease: 614962 OMIM LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD
id in db is: 293238
inserted disease: 1078 ORPHA Thumb stiffness-brachydactyly-intellectual disability syndrome
id in db is: 293239
inserted disease: 99892 ORPHA ACTH-dependent Cushing syndrome
id in db is: 293240
inserted disease: 616260 OMIM TENORIO SYNDROME; TNORS
id in db is: 293241
inserted disease: 181300 OMIM SCAPULA, CONTOUR OF VERTEBRAL BORDER OF
id in db is: 293242
inserted disease: 189800 OMIM PREECLAMPSIA/ECLAMPSIA 1
id in db is: 293243
inserted disease: 607499 OMIM BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1
id in db is: 293244
inserted disease: 616779 OMIM CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2
id in db is: 293245
inserted disease: 184100 OMIM %184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT
id in db is: 293246
inserted disease: 615524 OMIM #615524 MICROPHTHALMIA, SYNDROMIC 12; MCOPS12;;MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATICHERNIA, AND/OR CARDIAC DEFECTS
id in db is: 293247
inserted disease: 300062 OMIM MENTAL RETARDATION, X-LINKED 14
id in db is: 293248
inserted disease: 603204 OMIM EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2
id in db is: 293249
inserted disease: 114700 OMIM CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH
id in db is: 293250
inserted disease: 248370 OMIM #248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA;;LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA;;CRANIOMANDIBULAR DERMATODYSOSTOSISMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED
id in db is: 293251
inserted disease: 627 ORPHA Nance-Horan syndrome
id in db is: 293252
inserted disease: 186350 OMIM SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME
id in db is: 293253
inserted disease: 425500 OMIM HAIRY EARS, Y-LINKED
id in db is: 293254
inserted disease: 614859 OMIM #614859 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3, INCLUDED;CG3, INCLUDED
id in db is: 293255
inserted disease: 146500 OMIM MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1
id in db is: 293256
inserted disease: 153550 OMIM CHROMOSOME 5Q DELETION SYNDROME
id in db is: 293257
inserted disease: 158800 OMIM MUSCULAR DYSTROPHY, BARNES TYPE
id in db is: 293258
inserted disease: 373 ORPHA Simpson-Golabi-Behmel syndrome
id in db is: 293259
inserted disease: 228100 OMIM FATTY METAMORPHOSIS OF VISCERA
id in db is: 293260
inserted disease: 616040 OMIM MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7
id in db is: 293261
inserted disease: 613100 OMIM #613100 GLAUCOMA 1, OPEN ANGLE, O; GLC1O
id in db is: 293262
inserted disease: 310350 OMIM MYELOLYMPHATIC INSUFFICIENCY
id in db is: 293263
inserted disease: 616030 OMIM HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA; HH22
id in db is: 293264
inserted disease: 610069 OMIM #610069 POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2
id in db is: 293265
inserted disease: 221700 OMIM DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS
id in db is: 293266
inserted disease: 220489 ORPHA Rare hereditary hemochromatosis
id in db is: 293267
inserted disease: 231680 OMIM MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY
id in db is: 293268
inserted disease: 154000 OMIM MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED
id in db is: 293269
inserted disease: 614916 OMIM #614916 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4
id in db is: 293270
inserted disease: 201475 OMIM ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
id in db is: 293271
inserted disease: 602088 OMIM #602088 NEPHRONOPHTHISIS 2; NPHP2;;NPH2
id in db is: 293272
inserted disease: 264470 OMIM #264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY;;STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY;;PSEUDONEONATAL ADRENOLEUKODYSTROPHY
id in db is: 293273
inserted disease: 300707 OMIM #300707 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS;STAR;;STAR SYNDROME;;SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS
id in db is: 293274
inserted disease: 251046 ORPHA 6p22 microdeletion syndrome
id in db is: 293275
inserted disease: 227650 OMIM #227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA;;FANCONI ANEMIA; FAFANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED;;ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA, INCLUDED;;ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA, INCLUDED
id in db is: 293276
inserted disease: 616063 OMIM POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8
id in db is: 293277
inserted disease: 614378 OMIM #614378 CRANIOECTODERMAL DYSPLASIA 4; CED4
id in db is: 293278
inserted disease: 136680 OMIM FRASIER SYNDROME
id in db is: 293279
inserted disease: 614826 OMIM %614826 NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT; NYS7
id in db is: 293280
inserted disease: 2104 ORPHA Dysmorphism-pectus carinatum-joint laxity syndrome
id in db is: 293281
inserted disease: 46627 ORPHA Char syndrome
id in db is: 293282
inserted disease: 228020 OMIM FASCIAL DYSTROPHY, CONGENITAL
id in db is: 293283
inserted disease: 274210 OMIM 274210 THYMIC APLASIA WITH FETAL DEATH
id in db is: 293284
inserted disease: 609942 OMIM #609942 NOONAN SYNDROME 3; NS3
id in db is: 293285
inserted disease: 603467 OMIM #603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
id in db is: 293286
inserted disease: 274200 OMIM THUMB, DISTAL HYPEREXTENSIBILITY OF
id in db is: 293287
inserted disease: 603511 OMIM #603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D, FORMERLY; LGMD1D, FORMERLY
id in db is: 293288
inserted disease: 610965 OMIM #610965 XFE PROGEROID SYNDROME;;XPF-ERCC1 PROGEROID SYNDROME
id in db is: 293289
inserted disease: 610551 OMIM #610551 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1;;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 1; IIAE1
id in db is: 293290
inserted disease: 241500 OMIM HYPOPHOSPHATASIA, INFANTILE
id in db is: 293291
inserted disease: 211960 OMIM %211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMALPALMAR CREASES;;TEL HASHOMER CAMPTODACTYLY SYNDROME
id in db is: 293292
inserted disease: 228169 ORPHA Autosomal dominant striatal neurodegeneration
id in db is: 293293
inserted disease: 729 ORPHA Polycythemia vera
id in db is: 293294
inserted disease: 261540 OMIM #261540 PETERS-PLUS SYNDROME;;KRAUSE-KIVLIN SYNDROME;;PETERS ANOMALY WITH SHORT-LIMB DWARFISM
id in db is: 293295
inserted disease: 600363 OMIM SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
id in db is: 293296
inserted disease: 31824 ORPHA Colchicine poisoning
id in db is: 293297
inserted disease: 219900 OMIM #219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE;;CYSTINOSIS, INTERMEDIATE
id in db is: 293298
inserted disease: 1643 ORPHA Xp22.3 microdeletion syndrome
id in db is: 293299
inserted disease: 245130 OMIM KETOADIPICACIDURIA
id in db is: 293300
inserted disease: 616457 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz; CDG1Z
id in db is: 293301
inserted disease: 616501 OMIM CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4
id in db is: 293302
inserted disease: 174050 OMIM POLYCYSTIC LIVER DISEASE
id in db is: 293303
inserted disease: 300082 OMIM COGNITIVE FUNCTION 1, SOCIAL
id in db is: 293304
inserted disease: 311030 OMIM MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE
id in db is: 293305
inserted disease: 608957 OMIM CD8 DEFICIENCY, FAMILIAL
id in db is: 293306
inserted disease: 71211 ORPHA Neuromyelitis optica
id in db is: 293307
inserted disease: 615834 OMIM #615834 MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26
id in db is: 293308
inserted disease: 133750 OMIM 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY
id in db is: 293309
inserted disease: 166300 OMIM MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
id in db is: 293310
inserted disease: 613985 OMIM BETA-THALASSEMIA
id in db is: 293311
inserted disease: 1398 ORPHA Isolated cerebellar hypoplasia/agenesis
id in db is: 293312
inserted disease: 796 ORPHA Sandhoff disease
id in db is: 293313
inserted disease: 200110 OMIM ABLEPHARON-MACROSTOMIA SYNDROME; AMS
id in db is: 293314
inserted disease: 2822 ORPHA Autosomal recessive spastic paraplegia type 11
id in db is: 293315
inserted disease: 614652 OMIM #614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3
id in db is: 293316
inserted disease: 85332 ORPHA X-linked intellectual disability-retinitis pigmentosa syndrome
id in db is: 293317
inserted disease: 1200 ORPHA Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
id in db is: 293318
inserted disease: 162820 OMIM NEUTROPHIL CHEMOTACTIC RESPONSE
id in db is: 293319
inserted disease: 601217 OMIM 601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM
id in db is: 293320
inserted disease: 614890 OMIM #614890 IMMUNODEFICIENCY 29; IMD29 ;;IL12B DEFICIENCY
id in db is: 293321
inserted disease: 136760 OMIM FRONTONASAL DYSPLASIA 1; FND1
id in db is: 293322
inserted disease: 601859 OMIM AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
id in db is: 293323
inserted disease: 133500 OMIM EXCHONDROSIS OF PINNA, POSTERIOR
id in db is: 293324
inserted disease: 615539 OMIM #615539 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2; EDSMC2
id in db is: 293325
inserted disease: 118980 OMIM 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL
id in db is: 293326
inserted disease: 145800 OMIM HYPERTROPHIA MUSCULORUM VERA
id in db is: 293327
inserted disease: 1657 ORPHA Dermatoosteolysis, Kirghizian type
id in db is: 293328
inserted disease: 163600 OMIM NIPPLES INVERTED
id in db is: 293329
inserted disease: 300600 OMIM ALAND ISLAND EYE DISEASE
id in db is: 293330
inserted disease: 2169 ORPHA Methylcobalamin deficiency type cblE
id in db is: 293331
inserted disease: 600457 OMIM HYPERTRICHOSIS, ANTERIOR CERVICAL
id in db is: 293332
inserted disease: 606705 OMIM #606705 DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36
id in db is: 293333
inserted disease: 615744 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19
id in db is: 293334
inserted disease: 231183 ORPHA Usher syndrome type 3
id in db is: 293335
inserted disease: 2185 ORPHA Congenital hydrocephalus
id in db is: 293336
inserted disease: 218050 OMIM CRAMPS, FAMILIAL ADOLESCENT
id in db is: 293337
inserted disease: 241410 OMIM #241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD;;HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES;;SANJAD-SAKATI SYNDROME;;HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTHRETARDATION, AND DEVELOPMENTAL DELAY
id in db is: 293338
inserted disease: 305550 OMIM FINGERPRINT BODY MYOPATHY
id in db is: 293339
inserted disease: 170650 OMIM PERIODONTITIS, AGGRESSIVE, 1
id in db is: 293340
inserted disease: 610090 OMIM PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
id in db is: 293341
inserted disease: 271500 OMIM SPLENOPORTAL VASCULAR ANOMALIES
id in db is: 293342
inserted disease: 1436 ORPHA Skeletal dysplasia-intellectual disability syndrome
id in db is: 293343
inserted disease: 1880 ORPHA Ebstein malformation
id in db is: 293344
inserted disease: 607625 OMIM NIEMANN-PICK DISEASE, TYPE C2; NPC2
id in db is: 293345
inserted disease: 614880 OMIM #614880 HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15
id in db is: 293346
inserted disease: 260565 OMIM %260565 PEHO SYNDROME;;PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY;;INFANTILE CEREBELLOOPTIC ATROPHYPEHO-LIKE SYNDROME, INCLUDED
id in db is: 293347
inserted disease: 99826 ORPHA Marburg hemorrhagic fever
id in db is: 293348
inserted disease: 558 ORPHA Marfan syndrome
id in db is: 293349
inserted disease: 182950 OMIM SPINAL ARACHNOIDITIS
id in db is: 293350
inserted disease: 204900 OMIM AMYLOIDOSIS, CUTANEOUS BULLOUS
id in db is: 293351
inserted disease: 207600 OMIM TAKAYASU ARTERITIS
id in db is: 293352
inserted disease: 600972 OMIM #600972 ACHONDROGENESIS, TYPE IB; ACG1B;;ACHONDROGENESIS, FRACCARO TYPE
id in db is: 293353
inserted disease: 166220 OMIM OSTEOGENESIS IMPERFECTA, TYPE IV
id in db is: 293354
inserted disease: 609612 OMIM 609612 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE;;CONGENITAL FIBROSIS SYNDROME WITH SYNERGISTIC DIVERGENCE;;EXTERNAL OPHTHALMOPLEGIA WITH SYNERGISTIC DIVERGENCEEXTERNAL OPHTHALMOPLEGIA, SYNERGISTIC DIVERGENCE, JAW WINKING, ANDOCULOCUTANEOUS HYPOPIGMENTATION, INCLUDED
id in db is: 293355
inserted disease: 226960 OMIM EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS
id in db is: 293356
inserted disease: 611722 OMIM #611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY;;SAPOSIN A DEFICIENCY
id in db is: 293357
inserted disease: 613217 OMIM #613217 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5;;ENTEROPATHY, CONGENITAL TUFTING; CTE;;INTESTINAL EPITHELIAL CELL DYSPLASIA
id in db is: 293358
inserted disease: 615777 OMIM DESBUQUOIS DYSPLASIA 2; DBQD2
id in db is: 293359
inserted disease: 307010 OMIM 307010 HYDROCEPHALUS WITH CEREBELLAR AGENESIS
id in db is: 293360
inserted disease: 601869 OMIM #601869 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15;;DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72;;DEAFNESS, AUTOSOMAL RECESSIVE 95; DFNB95
id in db is: 293361
inserted disease: 269400 OMIM #269400 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;;SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
id in db is: 293362
inserted disease: 227330 OMIM %227330 FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE;;AARSKOG-LIKE SYNDROME;;KUWAIT TYPE FACIODIGITOGENITAL SYNDROME
id in db is: 293363
inserted disease: 1895 ORPHA Edinburgh malformation syndrome
id in db is: 293364
inserted disease: 224400 OMIM %224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE;;DDRD;;DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE;;ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE
id in db is: 293365
inserted disease: 1215 ORPHA Autosomal dominant optic atrophy plus syndrome
id in db is: 293366
inserted disease: 259680 OMIM CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS
id in db is: 293367
inserted disease: 615767 OMIM IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11
id in db is: 293368
inserted disease: 86918 ORPHA Diffuse palmoplantar keratoderma-acrocyanosis syndrome
id in db is: 293369
inserted disease: 613722 OMIM #613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12
id in db is: 293370
inserted disease: 1234 ORPHA Bartsocas-Papas syndrome
id in db is: 293371
inserted disease: 202370 OMIM ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
id in db is: 293372
inserted disease: 264480 OMIM 264480 PSEUDOTRISOMY 13 SYNDROME;;HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME
id in db is: 293373
inserted disease: 608553 OMIM #608553 LEBER CONGENITAL AMAUROSIS 9; LCA9
id in db is: 293374
inserted disease: 108900 OMIM ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
id in db is: 293375
inserted disease: 206920 OMIM #206920 MICROPHTHALMIA WITH LIMB ANOMALIES;;WAARDENBURG ANOPHTHALMIA SYNDROME;;ANOPHTHALMIA-SYNDACTYLY;;OPHTHALMOACROMELIC SYNDROME; OAS
id in db is: 293376
inserted disease: 300717 OMIM #300717 MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE
id in db is: 293377
inserted disease: 277470 OMIM #277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE
id in db is: 293378
inserted disease: 615593 OMIM IMMUNODEFICIENCY 16; IMD16
id in db is: 293379
inserted disease: 113700 OMIM %113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1;;AMASTIA;;ATHELIA;;AMAZIA
id in db is: 293380
inserted disease: 209885 OMIM #209885 BARBER-SAY SYNDROME; BBRSAY;;BSS;;HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA
id in db is: 293381
inserted disease: 613517 OMIM #613517 MICROPHTHALMIA, ISOLATED 6; MCOP6;;MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
id in db is: 293382
inserted disease: 199299 ORPHA Late-onset isolated ACTH deficiency
id in db is: 293383
inserted disease: 231690 OMIM #231690 GLUTARIC ACIDURIA III;;GA III;;GLUTARYL-CoA OXIDASE DEFICIENCY
id in db is: 293384
inserted disease: 273750 OMIM #273750 THREE M SYNDROME 1; 3M1;;3@M SYNDROME;;LE MERRER SYNDROME;;DOLICHOSPONDYLIC DYSPLASIA;;GLOOMY FACE SYNDROMEYAKUT SHORT STATURE SYNDROME, INCLUDED
id in db is: 293385
inserted disease: 614619 OMIM #614619 HYPEREKPLEXIA 2; HKPX2
id in db is: 293386
inserted disease: 203290 OMIM ALBINISM, OCULOCUTANEOUS, TYPE III
id in db is: 293387
inserted disease: 52901 ORPHA Isolated follicle stimulating hormone deficiency
id in db is: 293388
inserted disease: 249599 OMIM MENTAL RETARDATION SYNDROME, BELGIAN TYPE
id in db is: 293389
inserted disease: 261243 ORPHA 16p13.11 microduplication syndrome
id in db is: 293390
inserted disease: 178600 OMIM #178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1;;PHT;;PULMONARY ARTERIAL HYPERTENSION; PAHPULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED;;PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED, INCLUDED;;PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA,INCLUDED;;PPH1 WITH HHT, INCLUDED
id in db is: 293391
inserted disease: 244200 OMIM HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3
id in db is: 293392
inserted disease: 612286 OMIM NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1
id in db is: 293393
inserted disease: 128700 OMIM PREAURICULAR FISTULAE, CONGENITAL
id in db is: 293394
inserted disease: 614675 OMIM BONE MARROW FAILURE SYNDROME 1; BMFS1
id in db is: 293395
inserted disease: 615293 OMIM #615293 MYOFIBROMATOSIS, INFANTILE, 2; IMF2
id in db is: 293396
inserted disease: 614650 OMIM #614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6
id in db is: 293397
inserted disease: 610678 OMIM #610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4
id in db is: 293398
inserted disease: 128710 OMIM EAR PITS, POSTERIOR HELICAL
id in db is: 293399
inserted disease: 609256 OMIM %609256 MYOPIA 7; MYP7
id in db is: 293400
inserted disease: 186580 OMIM SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
id in db is: 293401
inserted disease: 222748 OMIM #222748 DIHYDROPYRIMIDINASE DEFICIENCY;;DIHYDROPYRIMIDINURIA;;DPYS DEFICIENCY;;DPH DEFICIENCY
id in db is: 293402
inserted disease: 616340 OMIM DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67
id in db is: 293403
inserted disease: 71276 ORPHA Silent sinus syndrome
id in db is: 293404
inserted disease: 606164 OMIM DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
id in db is: 293405
inserted disease: 187501 OMIM TETRALOGY OF FALLOT AND GLAUCOMA
id in db is: 293406
inserted disease: 614078 OMIM #614078 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE;;GPAPP DEFICIENCY
id in db is: 293407
inserted disease: 242500 OMIM #242500 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B;;ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE;;HARLEQUIN ICHTHYOSIS; HI;;'HARLEQUIN FETUS'
id in db is: 293408
inserted disease: 117650 OMIM CEREBROCOSTOMANDIBULAR SYNDROME
id in db is: 293409
inserted disease: 613767 OMIM #613767 RETINITIS PIGMENTOSA 45; RP45
id in db is: 293410
inserted disease: 603075 OMIM #603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1;;MACULOPATHY, AGE-RELATED, 1
id in db is: 293411
inserted disease: 613757 OMIM #613757 MACULAR DEGENERATION, AGE-RELATED, 6; ARMD6
id in db is: 293412
inserted disease: 609727 OMIM SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT
id in db is: 293413
inserted disease: 255960 OMIM MYXOMA, INTRACARDIAC
id in db is: 293414
inserted disease: 31142 ORPHA Oral erosive lichen
id in db is: 293415
inserted disease: 107680 OMIM APOLIPOPROTEIN A-I; APOA1
id in db is: 293416
inserted disease: 300830 OMIM AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4
id in db is: 293417
inserted disease: 98697 ORPHA Genetic keratinization disorder associated with ocular features
id in db is: 293418
inserted disease: 311280 OMIM OSTEOPATHIA STRIATA - PIGMENTARY DERMOPATHY - WHITE FORELOCK
id in db is: 293419
inserted disease: 601375 OMIM 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE
id in db is: 293420
inserted disease: 611561 OMIM MECKEL SYNDROME, TYPE 5
id in db is: 293421
inserted disease: 254190 OMIM MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS
id in db is: 293422
inserted disease: 601110 OMIM #601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D;;CDG Id; CDGId;;CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY; CDGS4,FORMERLY;;CDGS, TYPE IV, FORMERLY
id in db is: 293423
inserted disease: 1146 ORPHA Digitotalar dysmorphism
id in db is: 293424
inserted disease: 212100 OMIM CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS
id in db is: 293425
inserted disease: 260005 OMIM 5-@OXOPROLINASE DEFICIENCY; OPLAHD
id in db is: 293426
inserted disease: 260530 OMIM PARANA HARD-SKIN SYNDROME
id in db is: 293427
inserted disease: 615398 OMIM #615398 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3
id in db is: 293428
inserted disease: 57 DECIPHER 17q21.31 recurrent microdeletion syndrome
id in db is: 293429
inserted disease: 211400 OMIM #211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1;;CYSTIC FIBROSIS-LIKE SYNDROME
id in db is: 293430
inserted disease: 2615 ORPHA Nakajo-Nishimura syndrome
id in db is: 293431
inserted disease: 615043 OMIM #615043 SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43
id in db is: 293432
inserted disease: 615422 OMIM #615422 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2 ;;MULTISYSTEM PROTEINOPATHY 2; MSP2
id in db is: 293433
inserted disease: 212066 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA
id in db is: 293434
inserted disease: 306000 OMIM GLYCOGEN STORAGE DISEASE IXA
id in db is: 293435
inserted disease: 214350 OMIM CHANDS
id in db is: 293436
inserted disease: 608898 OMIM #608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3;;HPLH3;;HLH3
id in db is: 293437
inserted disease: 2430 ORPHA Congenital macroglossia
id in db is: 293438
inserted disease: 277460 OMIM VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF
id in db is: 293439
inserted disease: 803 ORPHA Amyotrophic lateral sclerosis
id in db is: 293440
inserted disease: 613353 OMIM MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN
id in db is: 293441
inserted disease: 610251 OMIM ALCOHOL SENSITIVITY, ACUTE
id in db is: 293442
inserted disease: 615982 OMIM BARDET-BIEDL SYNDROME 4; BBS4
id in db is: 293443
inserted disease: 220150 OMIM #220150 HYPOURICEMIA, RENAL, 1; RHUC1;;DALMATIAN HYPOURICEMIA;;RENAL HYPOURICEMIA
id in db is: 293444
inserted disease: 35664 ORPHA ALDH18A1-related De Barsy syndrome
id in db is: 293445
inserted disease: 168550 OMIM PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA
id in db is: 293446
inserted disease: 308250 OMIM IMMUNOGLOBULIN M, LEVEL OF
id in db is: 293447
inserted disease: 93409 ORPHA Brachydactyly-syndactyly, Zhao type
id in db is: 293448
inserted disease: 301840 OMIM 301840 SPINOCEREBELLAR ATAXIA, X-LINKED 4;;SCAX4;;ATAXIA-DEMENTIA SYNDROME, X-LINKED
id in db is: 293449
inserted disease: 300888 OMIM #300888 HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT; CHTE
id in db is: 293450
inserted disease: 145981 OMIM HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II
id in db is: 293451
inserted disease: 104110 OMIM ALOPECIA, FAMILIAL FOCAL
id in db is: 293452
inserted disease: 134510 OMIM FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF
id in db is: 293453
inserted disease: 609622 OMIM #609622 SHORT QT SYNDROME 3; SQT3
id in db is: 293454
inserted disease: 194080 OMIM #194080 DENYS-DRASH SYNDROME; DDS;;DRASH SYNDROME;;WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM;;NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES
id in db is: 293455
inserted disease: 140952 ORPHA Syndactyly-telecanthus-anogenital and renal malformations syndrome
id in db is: 293456
inserted disease: 615457 OMIM #615457 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18;;OBESITY, SUSCEPTIBILITY TO
id in db is: 293457
inserted disease: 275210 OMIM #275210 RESTRICTIVE DERMOPATHY, LETHAL;;TIGHT SKIN CONTRACTURE SYNDROME, LETHAL;;HYPERKERATOSIS-CONTRACTURE SYNDROME;;FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY
id in db is: 293458
inserted disease: 615030 OMIM #615030 SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56
id in db is: 293459
inserted disease: 131500 OMIM EPICANTHUS
id in db is: 293460
inserted disease: 601549 OMIM ALACRIMA
id in db is: 293461
inserted disease: 152780 OMIM LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB
id in db is: 293462
inserted disease: 750 ORPHA Pseudoachondroplasia
id in db is: 293463
inserted disease: 613435 OMIM #613435 AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12
id in db is: 293464
inserted disease: 610333 OMIM #610333 AICARDI-GOUTIERES SYNDROME 4; AGS4
id in db is: 293465
inserted disease: 105120 OMIM AMYLOIDOSIS V
id in db is: 293466
inserted disease: 2444 ORPHA Congenital pulmonary airway malformation
id in db is: 293467
inserted disease: 817 ORPHA Peeling skin syndrome
id in db is: 293468
inserted disease: 98941 ORPHA Von Hippel anomaly
id in db is: 293469
inserted disease: 121210 OMIM %121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE;  1
id in db is: 293470
inserted disease: 609325 OMIM %609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES
id in db is: 293471
inserted disease: 884 ORPHA Tetrasomy 12p
id in db is: 293472
inserted disease: 219095 OMIM CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL
id in db is: 293473
inserted disease: 608600 OMIM LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1
id in db is: 293474
inserted disease: 613640 OMIM NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C
id in db is: 293475
inserted disease: 613849 OMIM #613849 OSTEOGENESIS IMPERFECTA, TYPE XII; OI12;;OI, TYPE XII
id in db is: 293476
inserted disease: 608809 OMIM 608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA;LACH
id in db is: 293477
inserted disease: 616204 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18
id in db is: 293478
inserted disease: 103420 OMIM ALACRIMA, CONGENITAL
id in db is: 293479
inserted disease: 117100 OMIM CENTRALOPATHIC EPILEPSY
id in db is: 293480
inserted disease: 127700 OMIM DYSLEXIA, SUSCEPTIBILITY TO, 1
id in db is: 293481
inserted disease: 173590 OMIM PLATELET SIGNAL PROCESSING DEFECT
id in db is: 293482
inserted disease: 1916 ORPHA Diethylstilbestrol syndrome
id in db is: 293483
inserted disease: 600309 OMIM ATRIOVENTRICULAR SEPTAL DEFECT
id in db is: 293484
inserted disease: 608233 OMIM #608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2
id in db is: 293485
inserted disease: 202155 OMIM 202155 ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE
id in db is: 293486
inserted disease: 99928 ORPHA Placental site trophoblastic tumor
id in db is: 293487
inserted disease: 601846 OMIM %601846 VACUOLAR NEUROMYOPATHY;;MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; MDRV
id in db is: 293488
inserted disease: 156250 OMIM METACHONDROMATOSIS
id in db is: 293489
inserted disease: 604290 OMIM ACERULOPLASMINEMIAHYPOCERULOPLASMINEMIA, INCLUDED
id in db is: 293490
inserted disease: 614972 OMIM #614972 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3
id in db is: 293491
inserted disease: 159800 OMIM MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS
id in db is: 293492
inserted disease: 225400 OMIM EHLERS-DANLOS SYNDROME, TYPE VI
id in db is: 293493
inserted disease: 610356 OMIM #610356 RETINAL CONE DYSTROPHY 3B; RCD3B;;CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; CDSRR;;CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES,KCNV2-RELATED
id in db is: 293494
inserted disease: 616227 OMIM MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA
id in db is: 293495
inserted disease: 311040 OMIM ELK1, MEMBER OF ETS ONCOGENE FAMILY
id in db is: 293496
inserted disease: 601088 OMIM AYME-GRIPP SYNDROME; AYGRP
id in db is: 293497
inserted disease: 605259 OMIM #605259 SPINOCEREBELLAR ATAXIA 13; SCA13
id in db is: 293498
inserted disease: 300853 OMIM #300853 IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUSINFECTION, AND NEOPLASIA; XMEN
id in db is: 293499
inserted disease: 608028 OMIM 608028 THAI SYMPHALANGISM SYNDROME
id in db is: 293500
inserted disease: 615135 OMIM MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV
id in db is: 293501
inserted disease: 73273 ORPHA Growth delay due to insulin-like growth factor I resistance
id in db is: 293502
inserted disease: 210400 OMIM 210400 BIFID NOSE, AUTOSOMAL RECESSIVE;;MEDIAN FISSURE OF NOSE;;NOSE, MEDIAN CLEFT OF
id in db is: 293503
inserted disease: 213100 OMIM CEREBELLOPARENCHYMAL DISORDER II
id in db is: 293504
inserted disease: 615112 OMIM #615112 UROFACIAL SYNDROME 2; UFS2
id in db is: 293505
inserted disease: 95715 ORPHA Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
id in db is: 293506
inserted disease: 2601 ORPHA Myopathy-growth delay-intellectual disability-hypospadias syndrome
id in db is: 293507
inserted disease: 129400 OMIM #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
id in db is: 293508
inserted disease: 601606 OMIM TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1
id in db is: 293509
inserted disease: 217085 OMIM CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
id in db is: 293510
inserted disease: 611630 OMIM EPILEPSY, FAMILIAL TEMPORAL LOBE, 3; ETL3
id in db is: 293511
inserted disease: 614732 OMIM #614732 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIACONGENITA, AND GENITAL ANOMALIES;;IMAGE SYNDROME
id in db is: 293512
inserted disease: 29822 ORPHA Spontaneous periodic hypothermia
id in db is: 293513
inserted disease: 606072 OMIM RIPPLING MUSCLE DISEASE; RMD
id in db is: 293514
inserted disease: 35 DECIPHER WAGR 11p13 deletion syndrome
id in db is: 293515
inserted disease: 112700 OMIM BRACHYDACTYLY, TYPE A3
id in db is: 293516
inserted disease: 218900 OMIM CROME SYNDROME
id in db is: 293517
inserted disease: 284227 ORPHA TEMPI syndrome
id in db is: 293518
inserted disease: 99876 ORPHA Ehlers-Danlos syndrome type 7B
id in db is: 293519
inserted disease: 601811 OMIM PREMATURE AGING SYNDROME, OKAMOTO TYPE
id in db is: 293520
inserted disease: 614422 OMIM %614422 CATARACT, CONGENITAL, CERULEAN TYPE, 5; CCA5
id in db is: 293521
inserted disease: 269720 OMIM 269720 SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE;;BFNS, AUTOSOMAL RECESSIVE;;CONVULSIONS, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE;;EPILEPSY, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE
id in db is: 293522
inserted disease: 162830 OMIM NEUTROPHILIA, HEREDITARY
id in db is: 293523
inserted disease: 614388 OMIM #614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMALFISSION; EMPF
id in db is: 293524
inserted disease: 121450 OMIM 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS;;BAND KERATOPATHY WITH DEAFNESS
id in db is: 293525
inserted disease: 616672 OMIM #616672 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27
id in db is: 293526
inserted disease: 79281 ORPHA Alpha-N-acetylgalactosaminidase deficiency type 3
id in db is: 293527
inserted disease: 616053 OMIM SPINOCEREBELLAR ATAXIA 40; SCA40
id in db is: 293528
inserted disease: 1486 ORPHA Lethal congenital contracture syndrome type 1
id in db is: 293529
inserted disease: 2119 ORPHA HEC syndrome
id in db is: 293530
inserted disease: 616777 OMIM SECKEL SYNDROME 9; SCKL9
id in db is: 293531
inserted disease: 613675 OMIM #613675 CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB;;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;;NF1 MICRODELETION SYNDROME;;VAN ASPEREN SYNDROMENF1 MICRODUPLICATION SYNDROME, INCLUDED
id in db is: 293532
inserted disease: 613330 OMIM SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD
id in db is: 293533
inserted disease: 646 ORPHA Niemann-Pick disease type C
id in db is: 293534
inserted disease: 430000 OMIM INTERLEUKIN 3 RECEPTOR, Y-CHROMOSOMAL
id in db is: 293535
inserted disease: 2052 ORPHA Fraser syndrome
id in db is: 293536
inserted disease: 217050 OMIM COMPLEMENT COMPONENT 6 DEFICIENCY
id in db is: 293537
inserted disease: 611804 OMIM #611804 ELLIPTOCYTOSIS 1; EL1;;ELLIPTOCYTOSIS, RHESUS-LINKED TYPE;;PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF;;4.1-MINUS TRAIT;;4.1- TRAIT
id in db is: 293538
inserted disease: 149200 OMIM KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
id in db is: 293539
inserted disease: 765 ORPHA Pyruvate dehydrogenase deficiency
id in db is: 293540
inserted disease: 85294 ORPHA X-linked epilepsy-learning disabilities-behavior disorders syndrome
id in db is: 293541
inserted disease: 608840 OMIM #608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6; MDDGB6;;MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED;;MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MDC1D
id in db is: 293542
inserted disease: 230200 OMIM GALACTOKINASE DEFICIENCY
id in db is: 293543
inserted disease: 614527 OMIM #614527 CHROMOSOME 17q12 DELETION SYNDROME
id in db is: 293544
inserted disease: 154275 OMIM MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2
id in db is: 293545
inserted disease: 304300 OMIM CYANIDE, INABILITY TO SMELL
id in db is: 293546
inserted disease: 256730 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 1
id in db is: 293547
inserted disease: 210745 OMIM BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE
id in db is: 293548
inserted disease: 615859 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23
id in db is: 293549
inserted disease: 612138 OMIM EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
id in db is: 293550
inserted disease: 181393 ORPHA Growth hormone insensitivity syndrome
id in db is: 293551
inserted disease: 118420 OMIM %118420 CHIARI MALFORMATION TYPE I;;CM1CHIARI MALFORMATION TYPE I WITH SYRINGOMYELIA, INCLUDED;;CM1 WITH SYRINGOMYELIA, INCLUDED
id in db is: 293552
inserted disease: 182870 OMIM SPECTRIN, BETA, ERYTHROCYTIC
id in db is: 293553
inserted disease: 134200 OMIM FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL
id in db is: 293554
inserted disease: 1094 ORPHA Anonychia-microcephaly syndrome
id in db is: 293555
inserted disease: 208300 OMIM ASCITES, CHYLOUS
id in db is: 293556
inserted disease: 306 ORPHA Benign familial infantile epilepsy
id in db is: 293557
inserted disease: 239200 OMIM HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
id in db is: 293558
inserted disease: 309800 OMIM #309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1;;LENZ MICROPHTHALMIA SYNDROME;;LENZ DYSPLASIA;;MAA, FORMERLY
id in db is: 293559
inserted disease: 2501 ORPHA Metaphyseal chondrodysplasia, Spahr type
id in db is: 293560
inserted disease: 365 ORPHA Glycogen storage disease due to acid maltase deficiency
id in db is: 293561
inserted disease: 959 ORPHA Acro-renal-ocular syndrome
id in db is: 293562
inserted disease: 148210 OMIM #148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT;;KID SYNDROME, AUTOSOMAL DOMINANT
id in db is: 293563
inserted disease: 194400 OMIM XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD
id in db is: 293564
inserted disease: 607694 OMIM #607694 LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM; HLD7;;LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION;;ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION; ADDH;;LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPICHYPOGONADISM;;4H SYNDROME
id in db is: 293565
inserted disease: 118450 OMIM #118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
id in db is: 293566
inserted disease: 122580 OMIM COSTOCORACOID LIGAMENT, CONGENITALLY SHORT
id in db is: 293567
inserted disease: 604229 OMIM PETERS ANOMALY
id in db is: 293568
inserted disease: 284804 ORPHA Ocular albinism
id in db is: 293569
inserted disease: 147710 OMIM INTUSSUSCEPTION
id in db is: 293570
inserted disease: 613783 OMIM #613783 COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD;;C1s DEFICIENCY
id in db is: 293571
inserted disease: 193900 OMIM WHITE SPONGE NEVUS OF CANNON
id in db is: 293572
inserted disease: 614209 OMIM #614209 MECKEL SYNDROME, TYPE 9; MKS9
id in db is: 293573
inserted disease: 613740 OMIM #613740 CARDIOMYOPATHY, DILATED, 1T; CMD1T
id in db is: 293574
inserted disease: 601941 OMIM DIABETES MELLITUS, INSULIN-DEPENDENT, 6
id in db is: 293575
inserted disease: 300635 OMIM #300635 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2;;XIAP DEFICIENCY
id in db is: 293576
inserted disease: 266150 OMIM PYRUVATE CARBOXYLASE DEFICIENCY
id in db is: 293577
inserted disease: 609192 OMIM #609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A;;FURLONG SYNDROME;;LOEYS-DIETZ AORTIC ANEURYSM SYNDROME
id in db is: 293578
inserted disease: 214100 OMIM PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
id in db is: 293579
inserted disease: 608194 OMIM #608194 CONE-ROD DYSTROPHY 13; CORD13
id in db is: 293580
inserted disease: 662 ORPHA Yellow nail syndrome
id in db is: 293581
inserted disease: 314500 OMIM VAN DEN BOSCH SYNDROME
id in db is: 293582
inserted disease: 52 ORPHA Alagille syndrome
id in db is: 293583
inserted disease: 69 ORPHA Amyloidosis
id in db is: 293584
inserted disease: 720 ORPHA Pili bifurcati
id in db is: 293585
inserted disease: 615207 OMIM #615207 IL21R IMMUNODEFICIENCY
id in db is: 293586
inserted disease: 181600 OMIM SCLEROTYLOSIS
id in db is: 293587
inserted disease: 613312 OMIM #613312 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2
id in db is: 293588
inserted disease: 302200 OMIM CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES
id in db is: 293589
inserted disease: 306990 OMIM HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE
id in db is: 293590
inserted disease: 84142 ORPHA Isaac syndrome
id in db is: 293591
inserted disease: 615632 OMIM #615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F;;HSN IF
id in db is: 293592
inserted disease: 615281 OMIM #615281 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEGSPASTICITY; HBSL;;ASPARTYL-tRNA SYNTHETASE DEFICIENCY
id in db is: 293593
inserted disease: 35 ORPHA Propionic acidemia
id in db is: 293594
inserted disease: 250460 OMIM #250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS;;CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSISOR IMMUNODEFICIENCY;;CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY; CHHV
id in db is: 293595
inserted disease: 194 ORPHA Ocular coloboma
id in db is: 293596
inserted disease: 98296 ORPHA Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly
id in db is: 293597
inserted disease: 99978 ORPHA Klatskin tumor
id in db is: 293598
inserted disease: 264475 OMIM 264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HANDANOMALIES;;ACROOTOOCULAR SYNDROME;;AOO SYNDROME
id in db is: 293599
inserted disease: 615959 OMIM MYOPATHY, CENTRONUCLEAR, 5; CNM5
id in db is: 293600
inserted disease: 604379 OMIM #604379 HYPOTRICHOSIS 7; HYPT7;;HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; LAH2;;HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH;;HYPOTRICHOSIS, TOTAL, MARI TYPEWOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS,INCLUDED; ARWH2, INCLUDED;;WH/HT, INCLUDED
id in db is: 293601
inserted disease: 475000 OMIM GROWTH CONTROL, Y-CHROMOSOME INFLUENCED
id in db is: 293602
inserted disease: 609048 OMIM MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
id in db is: 293603
inserted disease: 615785 OMIM WHITE SPONGE NEVUS 2; WSN2
id in db is: 293604
inserted disease: 312190 OMIM RADIAL APLASIA, X-LINKED
id in db is: 293605
inserted disease: 613355 OMIM CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
id in db is: 293606
inserted disease: 206400 OMIM ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRINMETABOLISM
id in db is: 293607
inserted disease: 234030 OMIM HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION
id in db is: 293608
inserted disease: 867 ORPHA Familial multiple trichoepithelioma
id in db is: 293609
inserted disease: 148100 OMIM KELOIDS
id in db is: 293610
inserted disease: 312150 OMIM %312150 MULTIPLE PTERYGIUM SYNDROME, X-LINKED;;PTERYGIUM SYNDROME, MULTIPLE, X-LINKED
id in db is: 293611
inserted disease: 600335 OMIM SUCCINIC ACIDEMIA
id in db is: 293612
inserted disease: 140966 ORPHA Palmoplantar keratoderma, Nagashima type
id in db is: 293613
inserted disease: 616636 OMIM #616636 IMMUNODEFICIENCY 44; IMD44
id in db is: 293614
inserted disease: 1116 ORPHA Aplasia cutis congenita-intestinal lymphangiectasia syndrome
id in db is: 293615
inserted disease: 76 DECIPHER 12q14 microdeletion syndrome
id in db is: 293616
inserted disease: 226400 OMIM EPIDERMODYSPLASIA VERRUCIFORMIS
id in db is: 293617
inserted disease: 3309 ORPHA Tetrasomy 5p
id in db is: 293618
inserted disease: 122430 OMIM 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME
id in db is: 293619
inserted disease: 126150 OMIM HEPARIN-BINDING EGF-LIKE GROWTH FACTOR
id in db is: 293620
inserted disease: 71270 ORPHA Auriculoocular anomalies-cleft lip syndrome
id in db is: 293621
inserted disease: 275450 OMIM 275450 TRICHOODONTOONYCHIAL DYSPLASIA WITH BONE DEFICIENCY
id in db is: 293622
inserted disease: 105650 OMIM DIAMOND-BLACKFAN ANEMIA
id in db is: 293623
inserted disease: 89838 ORPHA KRT14-related epidermolysis bullosa simplex
id in db is: 293624
inserted disease: 272700 OMIM TAURODONTISM
id in db is: 293625
inserted disease: 130060 OMIM #130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT;;EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE;;EDS VIIA; EDS7A;;ARTHROCHALASIS MULTIPLEX CONGENITA;;EDS VII, MUTANT PROCOLLAGEN TYPEEDS VIIB, INCLUDED; EDS7B, INCLUDED
id in db is: 293626
inserted disease: 179830 OMIM 179830 RENAL TUBULAR ACIDOSIS, PROXIMAL;;RENAL TUBULAR ACIDOSIS II;;RTA, PROXIMAL TYPE;;RTA, RATE TYPE
id in db is: 293627
inserted disease: 250984 ORPHA Autosomal recessive Stickler syndrome
id in db is: 293628
inserted disease: 230350 OMIM #230350 GALACTOSE EPIMERASE DEFICIENCY;;GALE DEFICIENCY;;GALACTOSEMIA III;;UDP-GALACTOSE-4-EPIMERASE DEFICIENCY
id in db is: 293629
inserted disease: 610282 OMIM RETINITIS PIGMENTOSA 35; RP35
id in db is: 293630
inserted disease: 147530 OMIM INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY
id in db is: 293631
inserted disease: 612922 OMIM #612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2;;AHUS, SUSCEPTIBILITY TO, 2
id in db is: 293632
inserted disease: 261144 ORPHA 14q12 microdeletion syndrome
id in db is: 293633
inserted disease: 305200 OMIM EHLERS-DANLOS SYNDROME, TYPE V
id in db is: 293634
inserted disease: 212850 OMIM CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS
id in db is: 293635
inserted disease: 260400 OMIM SHWACHMAN-DIAMOND SYNDROME
id in db is: 293636
inserted disease: 181750 OMIM %181750 SCLERODERMA, FAMILIAL PROGRESSIVE;;SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TOCREST SYNDROME, INCLUDED
id in db is: 293637
inserted disease: 133200 OMIM #133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP;;ERYTHROKERATODERMIA VARIABILIS; EKV;;ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; PSEK;;ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES;;ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENSGREITHER DISEASE, INCLUDED;;KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED
id in db is: 293638
inserted disease: 279947 ORPHA Postorgasmic illness syndrome
id in db is: 293639
inserted disease: 608930 OMIM MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B
id in db is: 293640
inserted disease: 300953 OMIM TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5
id in db is: 293641
inserted disease: 1577 ORPHA Infantile thalamic degeneration
id in db is: 293642
inserted disease: 304340 OMIM PETTIGREW SYNDROME; PGS
id in db is: 293643
inserted disease: 69735 ORPHA Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
id in db is: 293644
inserted disease: 161600 OMIM NAVICULAR BONE, ACCESSORY
id in db is: 293645
inserted disease: 1334 ORPHA Chronic mucocutaneous candidiasis
id in db is: 293646
inserted disease: 173900 OMIM POLYCYSTIC KIDNEYS
id in db is: 293647
inserted disease: 201050 OMIM ACROCRANIOFACIAL DYSOSTOSIS
id in db is: 293648
inserted disease: 611182 OMIM #611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H;;CDG IIh; CDGIIh
id in db is: 293649
inserted disease: 128290 OMIM EAR ANTITRAGUS, TAG AT BASE OF
id in db is: 293650
inserted disease: 613954 OMIM #613954 AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS14
id in db is: 293651
inserted disease: 615916 OMIM CARDIOMYOPATHY, DILATED, 1NN; CMD1NN
id in db is: 293652
inserted disease: 2770 ORPHA Nasu-Hakola disease
id in db is: 293653
inserted disease: 616462 OMIM ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN
id in db is: 293654
inserted disease: 1928 ORPHA Congenital lobar emphysema
id in db is: 293655
inserted disease: 436141 ORPHA Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
id in db is: 293656
inserted disease: 79373 ORPHA Ectodermal dysplasia syndrome
id in db is: 293657
inserted disease: 127600 OMIM %127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID;;DKBI
id in db is: 293658
inserted disease: 614023 OMIM PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD
id in db is: 293659
inserted disease: 2163 ORPHA Holoprosencephaly-craniosynostosis syndrome
id in db is: 293660
inserted disease: 90309 ORPHA Ehlers-Danlos syndrome type 1
id in db is: 293661
inserted disease: 188030 OMIM 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP;;IMMUNE THROMBOCYTOPENIC PURPURA; ITP;;IDIOPATHIC THROMBOCYTOPENIC PURPURA
id in db is: 293662
inserted disease: 185100 OMIM STRABISMUS, SUSCEPTIBILITY TOSTRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED
id in db is: 293663
inserted disease: 120440 OMIM COLONIC VARICES WITHOUT PORTAL HYPERTENSION
id in db is: 293664
inserted disease: 162500 OMIM NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
id in db is: 293665
inserted disease: 300067 OMIM #300067 LISSENCEPHALY, X-LINKED, 1; LISX1;;XLIS;;LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUMSUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED;;SUBCORTICAL BAND HETEROTOPIA, X-LINKED, INCLUDED; SBH, INCLUDED;;DOUBLE CORTEX SYNDROME, INCLUDED;;DC SYNDROME, INCLUDED
id in db is: 293666
inserted disease: 608545 OMIM %608545 LARSEN-LIKE SYNDROME;;LRSL
id in db is: 293667
inserted disease: 208870 OMIM ATAXIA-MICROCEPHALY-CATARACT SYNDROME
id in db is: 293668
inserted disease: 610187 OMIM #610187 DIAPHRAGMATIC HERNIA 3;;DIH3
id in db is: 293669
inserted disease: 610425 OMIM #610425 CATARACT, LAMELLAR 2
id in db is: 293670
inserted disease: 615962 OMIM GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR
id in db is: 293671
inserted disease: 125250 OMIM #125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,ATAXIA, AND NEUROPATHY;;DOMINANT OPTIC ATROPHY PLUS SYNDROME; DOA+
id in db is: 293672
inserted disease: 613496 OMIM #613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6;;ANTIBODY DEFICIENCY DUE TO CD81 DEFECT
id in db is: 293673
inserted disease: 190900 OMIM TRITANOPIA
id in db is: 293674
inserted disease: 275230 OMIM 275230 TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS
id in db is: 293675
inserted disease: 131705 OMIM TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
id in db is: 293676
inserted disease: 132700 OMIM CYLINDROMATOSIS, FAMILIAL
id in db is: 293677
inserted disease: 611637 OMIM PRIMARY LATERAL SCLEROSIS, ADULT
id in db is: 293678
inserted disease: 921 ORPHA Abruzzo-Erickson syndrome
id in db is: 293679
inserted disease: 972 ORPHA Hereditary continuous muscle fiber activity
id in db is: 293680
inserted disease: 102650 OMIM ADACTYLIA, UNILATERAL
id in db is: 293681
inserted disease: 703 ORPHA Bullous pemphigoid
id in db is: 293682
inserted disease: 245650 OMIM 245650 LARSEN-LIKE SYNDROME, LETHAL TYPE
id in db is: 293683
inserted disease: 612965 OMIM #612965 46,XY SEX REVERSAL 3; SRXY3;;46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED;;46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENALFAILURE;;SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE;;DISORDER OF SEX DEVELOPMENT, 46,XY
id in db is: 293684
inserted disease: 147820 OMIM INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF
id in db is: 293685
inserted disease: 302802 OMIM CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3
id in db is: 293686
inserted disease: 613780 OMIM #613780 AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7;;AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
id in db is: 293687
inserted disease: 252920 OMIM MUCOPOLYSACCHARIDOSIS TYPE IIIB
id in db is: 293688
inserted disease: 614491 OMIM #614491 PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B
id in db is: 293689
inserted disease: 2108 ORPHA Hallermann-Streiff syndrome
id in db is: 293690
inserted disease: 615314 OMIM #615314 CRANIOSYNOSTOSIS 3; CRS3
id in db is: 293691
inserted disease: 612284 OMIM MECKEL SYNDROME, TYPE 6; MKS6
id in db is: 293692
inserted disease: 616025 OMIM HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5; HPMRS5
id in db is: 293693
inserted disease: 614814 OMIM #614814 ADAMS-OLIVER SYNDROME 3; AOS3
id in db is: 293694
inserted disease: 2924 ORPHA Isolated polycystic liver disease
id in db is: 293695
inserted disease: 601764 OMIM SEIZURES, BENIGN FAMILIAL INFANTILE, 1; BFIS1
id in db is: 293696
inserted disease: 613819 OMIM #613819 ASPHYXIATING THORACIC DYSTROPHY 4; ATD4
id in db is: 293697
inserted disease: 160150 OMIM MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
id in db is: 293698
inserted disease: 300910 OMIM #300910 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18; BMND18;;OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO
id in db is: 293699
inserted disease: 218700 OMIM #218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2;;THYROID DYSGENESIS;;THYROID AGENESIS;;THYROID HYPOPLASIA;;THYROID, ECTOPIC;;HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS;;HYPOTHYROIDISM, ATHYREOTIC;;ATHYREOTIC HYPOTHYROIDISM;;RESISTANCE TO THYROTROPIN; RTSH;;THYROTROPIN RESISTANCE
id in db is: 293700
inserted disease: 608013 OMIM #608013 GAUCHER DISEASE, PERINATAL LETHAL;;GAUCHER DISEASE, COLLODION TYPE
id in db is: 293701
inserted disease: 607364 OMIM #607364 BARTTER SYNDROME, TYPE 3;;BARTTER SYNDROME, CLASSICBARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED
id in db is: 293702
inserted disease: 614640 OMIM #614640 UV-SENSITIVE SYNDROME 3; UVSS3
id in db is: 293703
inserted disease: 613642 OMIM #613642 CARDIOMYOPATHY, DILATED, 1GG; CMD1GG
id in db is: 293704
inserted disease: 600977 OMIM CONE-ROD DYSTROPHY 5
id in db is: 293705
inserted disease: 613804 OMIM #613804 MEIER-GORLIN SYNDROME 4; MGORS4
id in db is: 293706
inserted disease: 153200 OMIM LYMPHEDEMA, HEREDITARY, II
id in db is: 293707
inserted disease: 146850 OMIM IMMUNE SUPPRESSION
id in db is: 293708
inserted disease: 255300 OMIM MYOPATHY, CONGENITAL
id in db is: 293709
inserted disease: 167200 OMIM PACHYONYCHIA CONGENITA, TYPE 1
id in db is: 293710
inserted disease: 165500 OMIM #165500 OPTIC ATROPHY 1; OPA1;;OPTIC ATROPHY, JUVENILE;;KJER-TYPE OPTIC ATROPHY;;OPTIC ATROPHY, KJER TYPE; OAK
id in db is: 293711
inserted disease: 237800 OMIM %237800 HYPERBILIRUBINEMIA, SHUNT, PRIMARY; PSHB
id in db is: 293712
inserted disease: 137440 OMIM #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
id in db is: 293713
inserted disease: 615342 OMIM #615342 PULMONARY HYPERTENSION, PRIMARY, 2; PPH2
id in db is: 293714
inserted disease: 166000 OMIM ENCHONDROMATOSIS, MULTIPLE
id in db is: 293715
inserted disease: 263550 OMIM POLYMYOCLONUS, INFANTILE
id in db is: 293716
inserted disease: 79456 ORPHA Diffuse cutaneous mastocytosis
id in db is: 293717
inserted disease: 2971 ORPHA Peroxisomal acyl-CoA oxidase deficiency
id in db is: 293718
inserted disease: 612348 OMIM %612348 THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGENACTIVATOR; THPH9HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGENACTIVATOR, INCLUDED
id in db is: 293719
inserted disease: 231178 ORPHA Usher syndrome type 2
id in db is: 293720
inserted disease: 157801 ORPHA Mesoaxial synostotic syndactyly with phalangeal reduction
id in db is: 293721
inserted disease: 212138 OMIM #212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD;;CACT DEFICIENCY
id in db is: 293722
inserted disease: 600775 OMIM CRANIOSYNOSTOSIS 4; CRS4
id in db is: 293723
inserted disease: 277590 OMIM WEAVER SYNDROME
id in db is: 293724
inserted disease: 606369 OMIM #606369 EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE;;ENCEPHALOPATHY OF CHILDHOOD
id in db is: 293725
inserted disease: 609161 OMIM #609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD
id in db is: 293726
inserted disease: 613453 OMIM #613453 DEAFNESS, AUTOSOMAL RECESSIVE 91; DFNB91
id in db is: 293727
inserted disease: 608099 OMIM #608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D;;DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, TYPE 2; DMDA2;;ADHALINOPATHY, PRIMARY
id in db is: 293728
inserted disease: 955 ORPHA Acroosteolysis dominant type
id in db is: 293729
inserted disease: 601345 OMIM ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE
id in db is: 293730
inserted disease: 1757 ORPHA Fibular dimelia-diplopodia syndrome
id in db is: 293731
inserted disease: 2582 ORPHA Myalgia-eosinophilia syndrome associated with tryptophan
id in db is: 293732
inserted disease: 180700 OMIM #180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS;;ROBINOW DWARFISM;;FETAL FACE SYNDROME;;ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES
id in db is: 293733
inserted disease: 1154 ORPHA Arthrogryposis with oculomotor limitation and electroretinal anomalies
id in db is: 293734
inserted disease: 600045 OMIM DNA DAMAGE-BINDING PROTEIN 1
id in db is: 293735
inserted disease: 615629 OMIM #615629 DEAFNESS, AUTOSOMAL DOMINANT 56; DFNA56
id in db is: 293736
inserted disease: 1891 ORPHA Intellectual disability-spasticity-ectrodactyly syndrome
id in db is: 293737
inserted disease: 1028 ORPHA Amelo-onycho-hypohidrotic syndrome
id in db is: 293738
inserted disease: 189490 OMIM TOOTH MALFORMATION
id in db is: 293739
inserted disease: 613309 OMIM DIAMOND-BLACKFAN ANEMIA 10; DBA10
id in db is: 293740
inserted disease: 614808 OMIM #614808 AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18
id in db is: 293741
inserted disease: 300855 OMIM #300855 OGDEN SYNDROME; OGDNS;;N-TERMINAL ACETYLTRANSFERASE DEFICIENCY; NATD
id in db is: 293742
inserted disease: 614924 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12
id in db is: 293743
inserted disease: 325345 ORPHA 46,XY ovotesticular disorder of sex development
id in db is: 293744
inserted disease: 615033 OMIM #615033 SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54
id in db is: 293745
inserted disease: 607688 OMIM #607688 PARKINSON DISEASE 11, AUTOSOMAL DOMINANT; PARK11
id in db is: 293746
inserted disease: 308240 OMIM #308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1;;XLP;;LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD;;LYP;;DUNCAN DISEASE;;EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL;;EBV INFECTION, SEVERE, SUSCEPTIBILITY TO; EBVS;;INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;;IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE;;IMMUNODEFICIENCY 5; IMD5;;PURTILO SYNDROME
id in db is: 293747
inserted disease: 614188 OMIM #614188 CRANIOSYNOSTOSIS AND DENTAL ANOMALIES; CRSDA;;KREIBORG-PAKISTANI SYNDROME
id in db is: 293748
inserted disease: 3398 ORPHA Thymic epithelial neoplasm
id in db is: 293749
inserted disease: 1325 ORPHA Camptodactyly-taurinuria syndrome
id in db is: 293750
inserted disease: 115300 OMIM CAROTENEMIA, FAMILIAL
id in db is: 293751
inserted disease: 164200 OMIM OCULODENTODIGITAL DYSPLASIA; ODDD
id in db is: 293752
inserted disease: 258300 OMIM OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE
id in db is: 293753
inserted disease: 75325 ORPHA Osteosclerosis-ichthyosis-premature ovarian failure syndrome
id in db is: 293754
inserted disease: 269920 OMIM INFANTILE SIALIC ACID STORAGE DISORDER
id in db is: 293755
inserted disease: 613688 OMIM LONG QT SYNDROME 2; LQT2
id in db is: 293756
inserted disease: 140936 ORPHA Lelis syndrome
id in db is: 293757
inserted disease: 461 ORPHA Recessive X-linked ichthyosis
id in db is: 293758
inserted disease: 1368 ORPHA Cataract-ataxia-deafness syndrome
id in db is: 293759
inserted disease: 604559 OMIM #604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B;;PFHBIB
id in db is: 293760
inserted disease: 615803 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10
id in db is: 293761
inserted disease: 151620 OMIM LICHEN PLANUS, FAMILIAL
id in db is: 293762
inserted disease: 209770 OMIM AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION
id in db is: 293763
inserted disease: 606054 OMIM #606054 PROPIONIC ACIDEMIA;;PROPIONYL-CoA CARBOXYLASE DEFICIENCY;;PCC DEFICIENCY;;GLYCINEMIA, KETOTIC;;HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA;;KETOTIC HYPERGLYCINEMIA
id in db is: 293764
inserted disease: 614038 OMIM #614038 LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA;;EMBERGER SYNDROME
id in db is: 293765
inserted disease: 265900 OMIM PYLE DISEASE
id in db is: 293766
inserted disease: 1665 ORPHA Sporadic fetal brain disruption sequence
id in db is: 293767
inserted disease: 137871 ORPHA Laminopathy type Decaudain-Vigouroux
id in db is: 293768
inserted disease: 2631 ORPHA Mesomelic dwarfism-cleft palate-camptodactyly syndrome
id in db is: 293769
inserted disease: 79277 ORPHA Congenital erythropoietic porphyria
id in db is: 293770
inserted disease: 300843 OMIM %300843 BORNHOLM EYE DISEASE; BED;;MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION
id in db is: 293771
inserted disease: 3322 ORPHA Hoyeraal-Hreidarsson syndrome
id in db is: 293772
inserted disease: 610297 OMIM #610297 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13
id in db is: 293773
inserted disease: 145500 OMIM HYPERTENSION, ESSENTIAL
id in db is: 293774
inserted disease: 159500 OMIM MYELINATED OPTIC NERVE FIBERS
id in db is: 293775
inserted disease: 2928 ORPHA Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
id in db is: 293776
inserted disease: 370927 ORPHA SSR4-CDG
id in db is: 293777
inserted disease: 290 ORPHA Congenital rubella syndrome
id in db is: 293778
inserted disease: 231625 ORPHA Adrenocortical carcinoma with pure aldosterone hypersecretion
id in db is: 293779
inserted disease: 35099 ORPHA Isolated brachycephaly
id in db is: 293780
inserted disease: 609500 OMIM MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
id in db is: 293781
inserted disease: 157800 OMIM MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICALVERTEBRAE AND OF CARPAL AND TARSAL BONES
id in db is: 293782
inserted disease: 180920 OMIM APLASIA OF LACRIMAL AND SALIVARY GLANDS
id in db is: 293783
inserted disease: 615849 OMIM CULLER-JONES SYNDROME; CJS
id in db is: 293784
inserted disease: 228980 OMIM #228980 FLECK RETINA, FAMILIAL BENIGN; FRFB
id in db is: 293785
inserted disease: 600989 OMIM INFUNDIBULOPELVIC DYSGENESIS
id in db is: 293786
inserted disease: 254950 OMIM MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA
id in db is: 293787
inserted disease: 1505 ORPHA Short rib-polydactyly syndrome
id in db is: 293788
inserted disease: 273 ORPHA Steinert myotonic dystrophy
id in db is: 293789
inserted disease: 607932 OMIM #607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6;;MICROPHTHALMIA AND PITUITARY ANOMALIES;;MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES;;ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITALANOMALIES, AND ABNORMAL EXTERNAL GENITALIA
id in db is: 293790
inserted disease: 244300 OMIM %244300 KAPUR-TORIELLO SYNDROME;;LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINALANOMALIES
id in db is: 293791
inserted disease: 614420 OMIM #614420 SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16
id in db is: 293792
inserted disease: 113600 OMIM BRANCHIAL CLEFT ANOMALIESBRANCHIAL CYSTS, INCLUDED
id in db is: 293793
inserted disease: 146700 OMIM ICHTHYOSIS VULGARIS
id in db is: 293794
inserted disease: 256600 OMIM #256600 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A;;NEURODEGENERATION, PLA2G6-ASSOCIATED; PLAN;;NEUROAXONAL DYSTROPHY, INFANTILE; INAD; INAD1;;SEITELBERGER DISEASE
id in db is: 293795
inserted disease: 114290 OMIM #114290 CAMPOMELIC DYSPLASIA;;CMPD;;CMD1; CMPD1;;CMPD1/SRA1CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED;;ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;;CAMPTOMELIC DYSPLASIA, INCLUDED
id in db is: 293796
inserted disease: 176500 OMIM #176500 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1;;DEMENTIA, FAMILIAL BRITISH; FBD;;PRESENILE DEMENTIA WITH SPASTIC ATAXIA;;CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE
id in db is: 293797
inserted disease: 615516 OMIM #615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38
id in db is: 293798
inserted disease: 211990 OMIM CAMPTOMELIC SYNDROME, LONG-LIMB TYPE
id in db is: 293799
inserted disease: 833 ORPHA Encephalopathy due to sulfite oxidase deficiency
id in db is: 293800
inserted disease: 113 ORPHA Bazex-Dupré-Christol syndrome
id in db is: 293801
inserted disease: 610474 OMIM CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
id in db is: 293802
inserted disease: 230800 ORPHA Toxin-mediated infectious botulism
id in db is: 293803
inserted disease: 48377 ORPHA Subcorneal pustular dermatosis
id in db is: 293804
inserted disease: 2983 ORPHA Disorder of sex development-intellectual disability syndrome
id in db is: 293805
inserted disease: 611307 OMIM MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L
id in db is: 293806
inserted disease: 109150 OMIM MACHADO-JOSEPH DISEASE; MJD
id in db is: 293807
inserted disease: 175505 OMIM POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI
id in db is: 293808
inserted disease: 174800 OMIM #174800 MCCUNE-ALBRIGHT SYNDROME; MAS;;ALBRIGHT SYNDROMEPOLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED
id in db is: 293809
inserted disease: 184460 OMIM #184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES;;ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, ANDSYNDACTYLY;;TEUNISSEN-CREMERS SYNDROME;;STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM
id in db is: 293810
inserted disease: 200990 OMIM #200990 ACROCALLOSAL SYNDROME; ACLS;;HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;;SCHINZEL ACROCALLOSAL SYNDROMEJOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;;JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED
id in db is: 293811
inserted disease: 226990 OMIM EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY
id in db is: 293812
inserted disease: 1342 ORPHA Heart-hand syndrome type 3
id in db is: 293813
inserted disease: 300623 OMIM #300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
id in db is: 293814
inserted disease: 1836 ORPHA Mesomelic dysplasia, Kantaputra type
id in db is: 293815
inserted disease: 2498 ORPHA Syndactyly type 8
id in db is: 293816
inserted disease: 614432 OMIM #614432 VENTRICULAR SEPTAL DEFECT 3; VSD3
id in db is: 293817
inserted disease: 58 DECIPHER Leri-Weill dyschondrostosis (LWD) - SHOX deletion
id in db is: 293818
inserted disease: 3151 ORPHA Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
id in db is: 293819
inserted disease: 614173 OMIM #614173 JOUBERT SYNDROME 13; JBTS13
id in db is: 293820
inserted disease: 177 ORPHA Rhizomelic chondrodysplasia punctata
id in db is: 293821
inserted disease: 444 ORPHA Marie Unna hereditary hypotrichosis
id in db is: 293822
inserted disease: 156240 OMIM MESOTHELIOMA, MALIGNANT
id in db is: 293823
inserted disease: 600176 OMIM %600176 PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS;;PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES
id in db is: 293824
inserted disease: 1229 ORPHA Congenital intrauterine infection-like syndrome
id in db is: 293825
inserted disease: 616291 OMIM LICHTENSTEIN-KNORR SYNDROME; LIKNS
id in db is: 293826
inserted disease: 601477 OMIM RIBBING DISEASE
id in db is: 293827
inserted disease: 1682 ORPHA Arterial dissection-lentiginosis syndrome
id in db is: 293828
inserted disease: 600903 OMIM 600903 WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
id in db is: 293829
inserted disease: 246000 OMIM LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT
id in db is: 293830
inserted disease: 610006 OMIM 2-@METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY
id in db is: 293831
inserted disease: 613630 OMIM #613630 COCOON SYNDROME;;FETAL ENCASEMENT SYNDROME
id in db is: 293832
inserted disease: 624 ORPHA Familial multiple nevi flammei
id in db is: 293833
inserted disease: 243440 OMIM 243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME;;MICROTIA-AORTIC ARCH SYNDROME
id in db is: 293834
inserted disease: 99735 ORPHA Myotonia permanens
id in db is: 293835
inserted disease: 613135 OMIM #613135 PARKINSONISM-DYSTONIA, INFANTILE; PKDYS;;DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS
id in db is: 293836
inserted disease: 204700 OMIM #204700 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1;;AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 1
id in db is: 293837
inserted disease: 301835 OMIM #301835 ARTS SYNDROME; ARTS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; MRXSARTS;;ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MRXS18
id in db is: 293838
inserted disease: 171836 ORPHA Amelogenesis imperfecta-gingival hyperplasia syndrome
id in db is: 293839
inserted disease: 264270 OMIM PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES
id in db is: 293840
inserted disease: 192700 OMIM VENULAR INSUFFICIENCY, SYSTEMIC
id in db is: 293841
inserted disease: 158810 OMIM #158810 BETHLEM MYOPATHY;;MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES;;MUSCULAR DYSTROPHY, BENIGN CONGENITAL
id in db is: 293842
inserted disease: 183300 OMIM SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA
id in db is: 293843
inserted disease: 614839 OMIM #614839 HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA; HH10
id in db is: 293844
inserted disease: 616000 OMIM #616000 ANALBUMINEMIA; ANALBA
id in db is: 293845
inserted disease: 1329 ORPHA Complete atrioventricular canal
id in db is: 293846
inserted disease: 207750 OMIM APOLIPOPROTEIN C-II DEFICIENCY
id in db is: 293847
inserted disease: 119650 OMIM CLEIDORHIZOMELIC SYNDROME
id in db is: 293848
inserted disease: 179200 OMIM RADIAL HEADS, POSTERIOR DISLOCATION OF
id in db is: 293849
inserted disease: 613120 OMIM BRUGADA SYNDROME 7; BRGDA7
id in db is: 293850
inserted disease: 608807 OMIM #608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
id in db is: 293851
inserted disease: 146510 OMIM PALLISTER-HALL SYNDROME; PHS
id in db is: 293852
inserted disease: 171000 OMIM PEYRONIE DISEASE
id in db is: 293853
inserted disease: 603641 OMIM NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARINGLOSS, AND ENAMEL HYPOPLASIA
id in db is: 293854
inserted disease: 2560 ORPHA Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
id in db is: 293855
inserted disease: 207740 OMIM APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZEDPOLYNEUROPATHY
id in db is: 293856
inserted disease: 612937 OMIM #612937 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O;;CDG Io; CDGIo;;CDG1(DPM3)
id in db is: 293857
inserted disease: 601675 OMIM #601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDPICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTHRETARDATION, INCLUDED;;TAY SYNDROME, INCLUDED;;TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED;;ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED;;IBIDS SYNDROME, INCLUDED
id in db is: 293858
inserted disease: 609384 OMIM FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B
id in db is: 293859
inserted disease: 2891 ORPHA Pili torti-developmental delay-neurological abnormalities syndrome
id in db is: 293860
inserted disease: 130710 OMIM EMPHYSEMA, CONGENITAL LOBAR
id in db is: 293861
inserted disease: 252150 OMIM #252150 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA;;SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINEDDEFICIENCY OF
id in db is: 293862
inserted disease: 616367 OMIM MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA
id in db is: 293863
inserted disease: 97240 ORPHA Zebra body myopathy
id in db is: 293864
inserted disease: 613123 OMIM #613123 BRUGADA SYNDROME 8; BRGDA8
id in db is: 293865
inserted disease: 614475 OMIM #614475 ATRIAL SEPTAL DEFECT 9; ASD9
id in db is: 293866
inserted disease: 221008 ORPHA Rothmund-Thomson syndrome type 1
id in db is: 293867
inserted disease: 600209 OMIM EXOSTOSES, MULTIPLE, TYPE III
id in db is: 293868
inserted disease: 608804 OMIM #608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2;;PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1
id in db is: 293869
inserted disease: 36367 ORPHA Distal monosomy 1q
id in db is: 293870
inserted disease: 269630 OMIM SECOND METATARSAL-METACARPAL SYNDROME
id in db is: 293871
inserted disease: 305690 OMIM GENITOURINARY TRACT ANOMALIES
id in db is: 293872
inserted disease: 616487 OMIM EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND
id in db is: 293873
inserted disease: 2841 ORPHA Familial benign chronic pemphigus
id in db is: 293874
inserted disease: 169105 ORPHA Good syndrome
id in db is: 293875
inserted disease: 244460 OMIM #244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1;;KCS;;KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE
id in db is: 293876
inserted disease: 199251 ORPHA Ledderhose disease
id in db is: 293877
inserted disease: 613471 OMIM #613471 REYNOLDS SYNDROME;;PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA
id in db is: 293878
inserted disease: 613507 OMIM #613507 GLYCOGEN STORAGE DISEASE XV; GSD15;;GSD XV;;GLYCOGENIN DEFICIENCY;;GYG1 DEFICIENCY
id in db is: 293879
inserted disease: 613156 OMIM #613156 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2; MDDGB2;;MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED
id in db is: 293880
inserted disease: 309541 OMIM #309541 METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE;;MENTAL RETARDATION, X-LINKED 3; MRX3
id in db is: 293881
inserted disease: 612158 OMIM CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA
id in db is: 293882
inserted disease: 615440 OMIM #615440 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17
id in db is: 293883
inserted disease: 151210 OMIM #151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT;;LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE;;THANATOPHORIC DYSPLASIA, TORRANCE VARIANTPLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL,INCLUDED;;THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED
id in db is: 293884
inserted disease: 115645 OMIM 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION
id in db is: 293885
inserted disease: 602078 OMIM FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
id in db is: 293886
inserted disease: 3447 ORPHA Weaver syndrome
id in db is: 293887
inserted disease: 210128 ORPHA Urocanic aciduria
id in db is: 293888
inserted disease: 300042 OMIM ALOPECIA, CONGENITAL
id in db is: 293889
inserted disease: 615048 OMIM %615048 SPINAL MUSCULAR ATROPHY, JOKELA TYPE; SMAJ
id in db is: 293890
inserted disease: 615506 OMIM #615506 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5
id in db is: 293891
inserted disease: 123880 OMIM CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE
id in db is: 293892
inserted disease: 90318 ORPHA Ehlers-Danlos syndrome type 2
id in db is: 293893
inserted disease: 150500 OMIM 150500 LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT
id in db is: 293894
inserted disease: 610978 OMIM #610978 CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARYDYSFUNCTION; CAHTP;;BRAIN-LUNG-THYROID SYNDROME
id in db is: 293895
inserted disease: 64754 ORPHA Nevus comedonicus syndrome
id in db is: 293896
inserted disease: 79501 ORPHA Punctate palmoplantar keratoderma type 1
id in db is: 293897
inserted disease: 151000 OMIM LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC
id in db is: 293898
inserted disease: 615219 OMIM #615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2
id in db is: 293899
inserted disease: 3055 ORPHA X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
id in db is: 293900
inserted disease: 188055 OMIM THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR
id in db is: 293901
inserted disease: 271400 OMIM #271400 ASPLENIA, ISOLATED CONGENITAL; ICAS;;HYPOSPLENIA, ISOLATED CONGENITAL;;SPLENIC HYPOPLASIA;;ASPLENIA, FAMILIAL
id in db is: 293902
inserted disease: 148840 OMIM KLEINE-LEVIN HIBERNATION SYNDROME
id in db is: 293903
inserted disease: 10 ORPHA 48,XXYY syndrome
id in db is: 293904
inserted disease: 133540 OMIM #133540 COCKAYNE SYNDROME, TYPE B; CSB;;CKN2
id in db is: 293905
inserted disease: 609033 OMIM POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1
id in db is: 293906
inserted disease: 745 ORPHA Hereditary thrombophilia due to congenital protein C deficiency
id in db is: 293907
inserted disease: 252270 OMIM MONOSOMY 7 OF BONE MARROW
id in db is: 293908
inserted disease: 609069 OMIM PANCREATIC AND CEREBELLAR AGENESIS; PACA
id in db is: 293909
inserted disease: 148730 OMIM KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL
id in db is: 293910
inserted disease: 182610 OMIM 182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPEMR
id in db is: 293911
inserted disease: 1848 ORPHA Renal agenesis, bilateral
id in db is: 293912
inserted disease: 312920 OMIM SPASTIC PARAPLEGIA 2, X-LINKED
id in db is: 293913
inserted disease: 613627 OMIM 613627 BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION;;TSUKAHARA SYNDROME
id in db is: 293914
inserted disease: 608236 OMIM SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT
id in db is: 293915
inserted disease: 3464 ORPHA Woodhouse-Sakati syndrome
id in db is: 293916
inserted disease: 602032 OMIM #602032 ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE; ECTD4;;ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE
id in db is: 293917
inserted disease: 610003 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
id in db is: 293918
inserted disease: 1513 ORPHA Craniodiaphyseal dysplasia
id in db is: 293919
inserted disease: 600962 OMIM PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
id in db is: 293920
inserted disease: 36412 ORPHA Hypocomplementemic urticarial vasculitis
id in db is: 293921
inserted disease: 240950 OMIM HYPOGONADISM-CATARACT SYNDROME
id in db is: 293922
inserted disease: 600952 OMIM TRANSSEXUALITY
id in db is: 293923
inserted disease: 601317 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11
id in db is: 293924
inserted disease: 600430 OMIM CHROMOSOME 2q37 DELETION SYNDROME
id in db is: 293925
inserted disease: 606812 OMIM #606812 FUMARASE DEFICIENCY;;FUMARIC ACIDURIA
id in db is: 293926
inserted disease: 91 ORPHA Aromatase deficiency
id in db is: 293927
inserted disease: 841 ORPHA Sebocystomatosis
id in db is: 293928
inserted disease: 601816 OMIM BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1
id in db is: 293929
inserted disease: 1408 ORPHA Hair defect-photosensitivity-intellectual disability syndrome
id in db is: 293930
inserted disease: 123550 OMIM %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME
id in db is: 293931
inserted disease: 613765 OMIM #613765 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9
id in db is: 293932
inserted disease: 614665 OMIM #614665 MECONIUM ILEUS
id in db is: 293933
inserted disease: 2619 ORPHA Brachydactylous dwarfism, Mseleni type
id in db is: 293934
inserted disease: 244450 OMIM %244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME
id in db is: 293935
inserted disease: 616652 OMIM #616652 YUAN-HAREL-LUPSKI SYNDROME; YUHAL
id in db is: 293936
inserted disease: 603387 OMIM #603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT
id in db is: 293937
inserted disease: 293939 ORPHA Distal Xq28 microduplication syndrome
id in db is: 293938
inserted disease: 117000 OMIM #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
id in db is: 293939
inserted disease: 300500 OMIM ALBINISM, OCULAR, TYPE I
id in db is: 293940
inserted disease: 605362 OMIM #605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J;;CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMALDOMINANT
id in db is: 293941
inserted disease: 615604 OMIM #615604 L-FERRITIN DEFICIENCY; LFTD
id in db is: 293942
inserted disease: 153640 OMIM FECHTNER SYNDROME
id in db is: 293943
inserted disease: 125595 OMIM DERMATOPATHIA PIGMENTOSA RETICULARIS
id in db is: 293944
inserted disease: 610199 OMIM #610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM;;NDH SYNDROME
id in db is: 293945
inserted disease: 613000 OMIM #613000 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL; FNEPPK;;FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA;;KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR
id in db is: 293946
inserted disease: 615974 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 102; DFNB102
id in db is: 293947
inserted disease: 252605 OMIM #252605 MUCOLIPIDOSIS III GAMMA;;ML III GAMMA;;MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C;;MUCOLIPIDOSIS IIIC;;ML IIIC;;MUCOLIPIDOSIS III, IRANIAN VARIANT FORM;;MUCOLIPIDOSIS III, VARIANT FORM
id in db is: 293948
inserted disease: 261560 OMIM PFEIFFER-PALM-TELLER SYNDROME
id in db is: 293949
inserted disease: 616654 OMIM #616654 JOUBERT SYNDROME 24; JBTS24
id in db is: 293950
inserted disease: 436 ORPHA Hypophosphatasia
id in db is: 293951
inserted disease: 252160 OMIM #252160 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB
id in db is: 293952
inserted disease: 614750 OMIM #614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2
id in db is: 293953
inserted disease: 153650 OMIM EPSTEIN SYNDROME
id in db is: 293954
inserted disease: 160800 OMIM #160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT;;THOMSEN DISEASE; THDMYOTONIA LEVIOR, INCLUDED
id in db is: 293955
inserted disease: 125900 OMIM DIASTEMA, DENTAL MEDIAL
id in db is: 293956
inserted disease: 612015 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
id in db is: 293957
inserted disease: 510 ORPHA Lesch-Nyhan syndrome
id in db is: 293958
inserted disease: 601462 OMIM #601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS;;MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC SLOW-CHANNEL;;MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa; CMS2A;;CMS IIa
id in db is: 293959
inserted disease: 604187 OMIM #604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10;;SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
id in db is: 293960
inserted disease: 607678 OMIM CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
id in db is: 293961
inserted disease: 228250 OMIM FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY
id in db is: 293962
inserted disease: 1237 ORPHA Beemer-Ertbruggen syndrome
id in db is: 293963
inserted disease: 614936 OMIM %614936 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IB; PPKP1B
id in db is: 293964
inserted disease: 311900 OMIM TARP SYNDROME; TARPS
id in db is: 293965
inserted disease: 615616 OMIM #615616 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; ARVC13
id in db is: 293966
inserted disease: 162800 OMIM CYCLIC HEMATOPOIESIS
id in db is: 293967
inserted disease: 257320 OMIM LISSENCEPHALY 2
id in db is: 293968
inserted disease: 302500 OMIM #302500 SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1;;OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED;;OPCA, X-LINKED; OPCAX
id in db is: 293969
inserted disease: 369950 ORPHA Intellectual disability-seizures-macrocephaly-obesity syndrome
id in db is: 293970
inserted disease: 2510 ORPHA Micro syndrome
id in db is: 293971
inserted disease: 270710 OMIM %270710 FITZSIMMONS-GUILBERT SYNDROME;;SPASTIC PARAPLEGIA ASSOCIATED WITH BRACHYDACTYLY TYPE E;;FITZSIMMONS SYNDROME
id in db is: 293972
inserted disease: 2795 ORPHA Polycystic ovaries-urethral sphincter dysfunction syndrome
id in db is: 293973
inserted disease: 2063 ORPHA Splenogonadal fusion-limb defects-micrognathia syndrome
id in db is: 293974
inserted disease: 308350 OMIM #308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1;;INFANTILE SPASM SYNDROME, X-LINKED 1; ISSX1;;WEST SYNDROME, X-LINKED;;OHTAHARA SYNDROME, X-LINKED;;INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY;;XMESID
id in db is: 293975
inserted disease: 602475 OMIM OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
id in db is: 293976
inserted disease: 83465 ORPHA Narcolepsy without cataplexy
id in db is: 293977
inserted disease: 164310 OMIM %164310 OCULOPHARYNGODISTAL MYOPATHY; OPDM;;FACIOOCULOLARYNGOPHARYNGEAL MYOPATHY WITH DISTAL AND RESPIRATORY INVOLVEMENT;FOLP-DR
id in db is: 293978
inserted disease: 213200 OMIM %213200 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2;;CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE;;CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL;;CEREBELLOPARENCHYMAL DISORDER III;;CPD III; CPD3
id in db is: 293979
inserted disease: 225500 OMIM ELLIS-VAN CREVELD SYNDROME
id in db is: 293980
inserted disease: 223800 OMIM #223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
id in db is: 293981
inserted disease: 600785 OMIM VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR
id in db is: 293982
inserted disease: 79406 ORPHA Late-onset junctional epidermolysis bullosa
id in db is: 293983
inserted disease: 616007 OMIM CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS
id in db is: 293984
inserted disease: 614307 OMIM ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD
id in db is: 293985
inserted disease: 83473 ORPHA Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
id in db is: 293986
inserted disease: 190 ORPHA Coats disease
id in db is: 293987
inserted disease: 35173 ORPHA X-linked dominant chondrodysplasia punctata
id in db is: 293988
inserted disease: 134540 OMIM FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF
id in db is: 293989
inserted disease: 615193 OMIM #615193 BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15;;MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
id in db is: 293990
inserted disease: 227240 OMIM SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5
id in db is: 293991
inserted disease: 607361 OMIM #607361 MECKEL SYNDROME, TYPE 3; MKS3;;MECKEL-GRUBER SYNDROME, TYPE 3
id in db is: 293992
inserted disease: 300858 OMIM %300858 MENTAL RETARDATION, X-LINKED, SYNDROMIC 17; MRXS17;;MENTAL RETARDATION, X-LINKED, WITH ALACRIMA AND ACHALASIA
id in db is: 293993
inserted disease: 607523 OMIM #607523 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8;;TOENAIL DYSTROPHY, ISOLATED
id in db is: 293994
inserted disease: 613291 OMIM #613291 BILE ACID MALABSORPTION, PRIMARY; PBAM
id in db is: 293995
inserted disease: 234 ORPHA Dubin-Johnson syndrome
id in db is: 293996
inserted disease: 600974 OMIM DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7
id in db is: 293997
inserted disease: 178300 OMIM PTOSIS, HEREDITARY CONGENITAL 1
id in db is: 293998
inserted disease: 248360 OMIM #248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY
id in db is: 293999
inserted disease: 657 ORPHA Congenital isolated hyperinsulinism
id in db is: 294000
inserted disease: 114620 OMIM 114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME
id in db is: 294001
inserted disease: 233805 OMIM GROWTH FACTORS, COMBINED DEFECT OF
id in db is: 294002
inserted disease: 605472 OMIM USHER SYNDROME, TYPE IIC
id in db is: 294003
inserted disease: 149730 OMIM #149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD;;LEVY-HOLLISTER SYNDROME
id in db is: 294004
inserted disease: 209880 OMIM #209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS;;AUTONOMIC CONTROL, CONGENITAL FAILURE OF  ONDINE CURSE, CONGENITALONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;;CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;;HADDAD SYNDROME, INCLUDED
id in db is: 294005
inserted disease: 67048 ORPHA 3-methylglutaconic aciduria type 4
id in db is: 294006
inserted disease: 610755 OMIM #610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
id in db is: 294007
inserted disease: 165510 OMIM OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS
id in db is: 294008
inserted disease: 300238 OMIM MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
id in db is: 294009
inserted disease: 1765 ORPHA Dyschondrosteosis-nephritis syndrome
id in db is: 294010
inserted disease: 300049 OMIM #300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT;;HETEROTOPIA, FAMILIAL NODULAR;;PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1;;NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR; NHBP; BPNHHETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA,INCLUDED
id in db is: 294011
inserted disease: 608709 OMIM #608709 LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD;;APLD, SUSCEPTIBILITY TO;;BARRAQUER-SIMONS SYNDROME;;LIPODYSTROPHY, CEPHALOTHORACIC TYPE;;LIPODYSTROPHY, PARTIAL, PROGRESSIVE
id in db is: 294012
inserted disease: 137550 OMIM MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS
id in db is: 294013
inserted disease: 263450 OMIM %263450 POLYDACTYLY, POSTAXIAL, TYPE A5; PAPA5
id in db is: 294014
inserted disease: 601626 OMIM LEUKEMIA, ACUTE MYELOID
id in db is: 294015
inserted disease: 1527 ORPHA Craniosynostosis, Philadelphia type
id in db is: 294016
inserted disease: 185480 OMIM SUPRABULBAR PARESIS, CONGENITAL
id in db is: 294017
inserted disease: 612916 OMIM 612916 ZECHI-CEIDE SYNDROME;;OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET
id in db is: 294018
inserted disease: 615654 OMIM %615654 DEAFNESS, AUTOSOMAL DOMINANT 58; DFNA58
id in db is: 294019
inserted disease: 226670 OMIM #226670 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY;;EBS-MD;;EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY;;MD-EBS; MDEBS
id in db is: 294020
inserted disease: 601803 OMIM #601803 PALLISTER-KILLIAN SYNDROME; PKS;;TETRASOMY 12p, MOSAIC;;ISOCHROMOSOME 12p SYNDROMEHEXASOMY 12p, MOSAIC, INCLUDED
id in db is: 294021
inserted disease: 616339 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29
id in db is: 294022
inserted disease: 171480 OMIM 171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA;;FACIOAURICULORADIAL DYSPLASIA
id in db is: 294023
inserted disease: 261750 OMIM GLYCOGEN STORAGE DISEASE IXb; GSD9B
id in db is: 294024
inserted disease: 604314 OMIM %604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE
id in db is: 294025
inserted disease: 265140 OMIM PULMONARY ARTERIOVENOUS FISTULAS
id in db is: 294026
inserted disease: 606943 OMIM USHER SYNDROME, TYPE IG
id in db is: 294027
inserted disease: 112270 OMIM BONE PAIN, PERIODIC
id in db is: 294028
inserted disease: 123560 OMIM 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME
id in db is: 294029
inserted disease: 1373 ORPHA Cataract-aberrant oral frenula-growth delay syndrome
id in db is: 294030
inserted disease: 405 ORPHA Familial hypocalciuric hypercalcemia
id in db is: 294031
inserted disease: 140941 ORPHA Short stature due to primary acid-labile subunit deficiency
id in db is: 294032
inserted disease: 275120 OMIM THYROTROPIN-RELEASING HORMONE DEFICIENCY
id in db is: 294033
inserted disease: 612657 OMIM #612657 CONE-ROD DYSTROPHY 12; CORD12
id in db is: 294034
inserted disease: 600155 OMIM HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
id in db is: 294035
inserted disease: 201 ORPHA Cowden syndrome
id in db is: 294036
inserted disease: 258315 OMIM #258315 OMODYSPLASIA 1; OMOD1;;OMODYSPLASIA, GENERALIZED FORM;;OMODYSPLASIA, AUTOSOMAL RECESSIVE;;MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS
id in db is: 294037
inserted disease: 113301 OMIM BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II
id in db is: 294038
inserted disease: 1919 ORPHA Phenobarbital embryopathy
id in db is: 294039
inserted disease: 1715 ORPHA Trisomy 18p
id in db is: 294040
inserted disease: 609200 OMIM MYOTILINOPATHY
id in db is: 294041
inserted disease: 397685 ORPHA Familial  hyperprolactinemia
id in db is: 294042
inserted disease: 48686 ORPHA Primary effusion lymphoma
id in db is: 294043
inserted disease: 800 ORPHA Schwartz-Jampel syndrome
id in db is: 294044
inserted disease: 220219 OMIM 220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY
id in db is: 294045
inserted disease: 179500 OMIM RAINDROP HYPOPIGMENTATION
id in db is: 294046
inserted disease: 607822 OMIM ALZHEIMER DISEASE 3
id in db is: 294047
inserted disease: 231568 ORPHA Generalized dominant dystrophic epidermolysis bullosa
id in db is: 294048
inserted disease: 613443 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20
id in db is: 294049
inserted disease: 614035 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
id in db is: 294050
inserted disease: 3188 ORPHA Congenital pulmonary veins atresia or stenosis
id in db is: 294051
inserted disease: 435660 ORPHA LIPE-related familial partial lipodystrophy
id in db is: 294052
inserted disease: 602450 OMIM SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
id in db is: 294053
inserted disease: 616193 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47
id in db is: 294054
inserted disease: 616355 OMIM #616355 MENTAL RETARDATION, AUTOSOMAL DOMINANT 35; MRD35
id in db is: 294055
inserted disease: 614322 OMIM #614322 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12;;SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
id in db is: 294056
inserted disease: 524 ORPHA Li-Fraumeni syndrome
id in db is: 294057
inserted disease: 155255 OMIM MEDULLOBLASTOMA
id in db is: 294058
inserted disease: 606482 OMIM CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB
id in db is: 294059
inserted disease: 187900 OMIM #187900 BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17;;THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY
id in db is: 294060
inserted disease: 212550 OMIM #212550 OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY; ODRMD
id in db is: 294061
inserted disease: 614120 OMIM #614120 HYDROLETHALUS SYNDROME 2; HLS2
id in db is: 294062
inserted disease: 2151 ORPHA Hirschsprung disease-ganglioneuroblastoma syndrome
id in db is: 294063
inserted disease: 266920 OMIM #266920 MAINZER-SALDINO SYNDROME; MZSDS;;CONORENAL SYNDROME;;RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA,AND SKELETAL DYSPLASIA
id in db is: 294064
inserted disease: 601165 OMIM 601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION,AND LETHAL CONGENITAL HEART DISEASE
id in db is: 294065
inserted disease: 2380 ORPHA Legg-Calvé-Perthes disease
id in db is: 294066
inserted disease: 607346 OMIM #607346 SPINOCEREBELLAR ATAXIA 19; SCA19;;SPINOCEREBELLAR ATAXIA 22; SCA22
id in db is: 294067
inserted disease: 216411 OMIM 216411 COCKAYNE SYNDROME, TYPE III
id in db is: 294068
inserted disease: 615155 OMIM %615155 STEEL SYNDROME; STLS;;DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, ANDSHORT STATURE
id in db is: 294069
inserted disease: 601367 OMIM STROKE, ISCHEMIC
id in db is: 294070
inserted disease: 614430 OMIM #614430 ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4
id in db is: 294071
inserted disease: 186000 OMIM #186000 SYNPOLYDACTYLY 1; SPD1;;SYNDACTYLY, TYPE IISYNPOLYDACTYLY WITH FOOT ANOMALIES, INCLUDED
id in db is: 294072
inserted disease: 608643 OMIM AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
id in db is: 294073
inserted disease: 615987 OMIM BARDET-BIEDL SYNDROME 10; BBS10
id in db is: 294074
inserted disease: 79330 ORPHA MOGS-CDG
id in db is: 294075
inserted disease: 600332 OMIM RIPPLING MUSCLE DISEASE 1; RMD1
id in db is: 294076
inserted disease: 611038 OMIM MICROPHTHALMIA, ISOLATED 3
id in db is: 294077
inserted disease: 141350 OMIM HEMIFACIAL HYPERPLASIA WITH STRABISMUS
id in db is: 294078
inserted disease: 206700 OMIM ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY
id in db is: 294079
inserted disease: 266270 OMIM RAMON SYNDROME
id in db is: 294080
inserted disease: 600143 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 8
id in db is: 294081
inserted disease: 144050 OMIM HYPERHEPARINEMIA
id in db is: 294082
inserted disease: 1149 ORPHA Arthrogryposis-like syndrome
id in db is: 294083
inserted disease: 616490 OMIM JOUBERT SYNDROME 23; JBTS23
id in db is: 294084
inserted disease: 133100 OMIM #133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN
id in db is: 294085
inserted disease: 613926 OMIM #613926 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION; MLC2B
id in db is: 294086
inserted disease: 600329 OMIM 600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY
id in db is: 294087
inserted disease: 258450 OMIM #258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL RECESSIVE; PEOB;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE
id in db is: 294088
inserted disease: 312910 OMIM SPASTIC PARAPARESIS AND DEAFNESS
id in db is: 294089
inserted disease: 613617 OMIM #613617 RETINITIS PIGMENTOSA 58; RP58
id in db is: 294090
inserted disease: 47 ORPHA X-linked agammaglobulinemia
id in db is: 294091
inserted disease: 616649 OMIM #616649 SPHEROCYTOSIS, TYPE 2; SPH2;;SPHEROCYTOSIS, HEREDITARY, 2; HS2
id in db is: 294092
inserted disease: 2322 ORPHA Kabuki syndrome
id in db is: 294093
inserted disease: 251 ORPHA Multiple epiphyseal dysplasia
id in db is: 294094
inserted disease: 310490 OMIM COWCHOCK SYNDROME; COWCK
id in db is: 294095
inserted disease: 614616 OMIM #614616 DIARRHEA 6; DIAR6
id in db is: 294096
inserted disease: 615058 OMIM #615058 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F
id in db is: 294097
inserted disease: 214370 OMIM NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION,AND ABSENT SENSORY LARGE MYELINATED FIBERS
id in db is: 294098
inserted disease: 300323 OMIM GOUT, HPRT-RELATED
id in db is: 294099
inserted disease: 228116 ORPHA Hughes-Stovin syndrome
id in db is: 294100
inserted disease: 615828 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24
id in db is: 294101
inserted disease: 259650 OMIM OSTEOMA OF MIDDLE EAR
id in db is: 294102
inserted disease: 612281 OMIM #612281 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6;;ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED
id in db is: 294103
inserted disease: 602068 OMIM LEISHMANIASIS, TEGUMENTARY
id in db is: 294104
inserted disease: 604352 OMIM FEBRILE SEIZURES, FAMILIAL, 4; FEB4
id in db is: 294105
inserted disease: 604364 OMIM #604364 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI; FFEVF;;EPILEPSY, PARTIAL, WITH VARIABLE FOCI; FPEVF
id in db is: 294106
inserted disease: 59 DECIPHER Adult-onset autosomal dominant leukodystrophy (ADLD)
id in db is: 294107
inserted disease: 131400 OMIM EOSINOPHILIA, FAMILIAL
id in db is: 294108
inserted disease: 139900 OMIM %139900 HAND SKILL, RELATIVE; HSR;;HANDEDNESS
id in db is: 294109
inserted disease: 235370 OMIM HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS
id in db is: 294110
inserted disease: 612335 OMIM SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38
id in db is: 294111
inserted disease: 601355 OMIM MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS,AND HYPOSEGMENTED LUNGS
id in db is: 294112
inserted disease: 1425 ORPHA Desbuquois syndrome
id in db is: 294113
inserted disease: 147891 OMIM SMALL PATELLA SYNDROME
id in db is: 294114
inserted disease: 183713 ORPHA Pyogenic bacterial infections due to MyD88 deficiency
id in db is: 294115
inserted disease: 916 ORPHA Aase-Smith syndrome
id in db is: 294116
inserted disease: 113610 OMIM BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
id in db is: 294117
inserted disease: 300064 OMIM 300064 MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM;;MENTAL RETARDATION, X-LINKED, HYDE-FORSTER TYPE
id in db is: 294118
inserted disease: 613013 OMIM #613013 NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, INCLUDED
id in db is: 294119
inserted disease: 370 ORPHA Glycogen storage disease due to phosphorylase kinase deficiency
id in db is: 294120
inserted disease: 582 ORPHA Mucopolysaccharidosis type 4
id in db is: 294121
inserted disease: 99873 ORPHA Hand-Schüller-Christian disease
id in db is: 294122
inserted disease: 253280 OMIM #253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3; MDDGA3;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
id in db is: 294123
inserted disease: 229250 OMIM FREESIA FLOWERS, INABILITY TO SMELL
id in db is: 294124
inserted disease: 613752 OMIM #613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
id in db is: 294125
inserted disease: 228990 OMIM FLECK RETINA OF KANDORI
id in db is: 294126
inserted disease: 616022 OMIM NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6
id in db is: 294127
inserted disease: 211500 OMIM BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD
id in db is: 294128
inserted disease: 610743 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8
id in db is: 294129
inserted disease: 3080 ORPHA Intellectual disability, Wolff type
id in db is: 294130
inserted disease: 277440 OMIM #277440 VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A;;VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA;;RICKETS, HEREDITARY VITAMIN D-RESISTANT; HVDRR;;GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D;;VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL;;PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA;;PDDR IIA;;HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS; HVDRR;;RICKETS-ALOPECIA SYNDROME
id in db is: 294131
inserted disease: 610623 OMIM #610623 CATARACT, POSTERIOR POLAR, 4; CTPP4;;CPP4CATARACT, POSTERIOR POLAR, 4, WITH MICROPHTHALMIA AND NEURODEVELOPMENTALABNORMALITIES, INCLUDED
id in db is: 294132
inserted disease: 85172 ORPHA Microcephalic osteodysplastic dysplasia, Saul-Wilson type
id in db is: 294133
inserted disease: 146520 OMIM HYPOTRICHOSIS SIMPLEX OF SCALP
id in db is: 294134
inserted disease: 211980 OMIM LUNG CANCERALVEOLAR CELL CARCINOMA, INCLUDED
id in db is: 294135
inserted disease: 613493 OMIM #613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3;;ANTIBODY DEFICIENCY DUE TO CD19 DEFECT
id in db is: 294136
inserted disease: 146400 OMIM HYPOPLASIA OF TEETH ROOTS
id in db is: 294137
inserted disease: 79325 ORPHA ALG8-CDG
id in db is: 294138
inserted disease: 569 ORPHA Familial or sporadic hemiplegic migraine
id in db is: 294139
inserted disease: 602347 OMIM CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3
id in db is: 294140
inserted disease: 605321 OMIM 605321 FRONTOOCULAR SYNDROME
id in db is: 294141
inserted disease: 243320 OMIM INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF
id in db is: 294142
inserted disease: 231000 OMIM #231000 GAUCHER DISEASE, TYPE III;;GD III;;GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE;;GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE;;GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRALGAUCHER DISEASE, TYPE IIIA, INCLUDED;;GAUCHER DISEASE, TYPE IIIB, INCLUDED;;GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED
id in db is: 294143
inserted disease: 231393 ORPHA Beta-thalassemia-X-linked thrombocytopenia syndrome
id in db is: 294144
inserted disease: 100300 OMIM ADAMS-OLIVER SYNDROME
id in db is: 294145
inserted disease: 243300 OMIM CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1
id in db is: 294146
inserted disease: 112600 OMIM #112600 BRACHYDACTYLY, TYPE A2; BDA2;;BRACHYMESOPHALANGY II;;MOHR-WRIEDT TYPE BRACHYDACTYLY
id in db is: 294147
inserted disease: 255600 OMIM #255600 MYOSCLEROSIS, AUTOSOMAL RECESSIVE;;MYOPATHY, MYOSCLEROTIC;;MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL
id in db is: 294148
inserted disease: 135400 OMIM HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3
id in db is: 294149
inserted disease: 616188 OMIM RETINAL DYSTROPHY AND OBESITY; RDOB
id in db is: 294150
inserted disease: 604219 OMIM #604219 CATARACT 9, MULTIPLE TYPES; CTRCT9;;CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;;CATARACT, AUTOSOMAL DOMINANT;;CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATC1
id in db is: 294151
inserted disease: 614300 OMIM #614300 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
id in db is: 294152
inserted disease: 616185 OMIM OVARIAN DYSGENESIS 4; ODG4
id in db is: 294153
inserted disease: 102770 OMIM ADENOSINE MONOPHOSPHATE DEAMINASE 1
id in db is: 294154
inserted disease: 612775 OMIM #612775 CONE-ROD DYSTROPHY 9; CORD9
id in db is: 294155
inserted disease: 601450 OMIM 601450 DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERSAND FACIAL DYSMORPHISM;;HIP, CONGENITAL DISLOCATION OF, WITH HYPEREXTENSIBILITY OF FINGERSAND FACIAL DYSMORPHISM
id in db is: 294156
inserted disease: 1803 ORPHA Thoracomelic dysplasia
id in db is: 294157
inserted disease: 881 ORPHA Turner syndrome
id in db is: 294158
inserted disease: 223500 OMIM DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE
id in db is: 294159
inserted disease: 144 ORPHA Lynch syndrome
id in db is: 294160
inserted disease: 235800 OMIM HISTIDINEMIA
id in db is: 294161
inserted disease: 609640 OMIM FRIAS SYNDROME
id in db is: 294162
inserted disease: 738 ORPHA Porphyria
id in db is: 294163
inserted disease: 586 ORPHA Cystic fibrosis
id in db is: 294164
inserted disease: 601493 OMIM #601493 CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION;CMD1CLEFT VENTRICULAR NONCOMPACTION 3, INCLUDED; LVNC3, INCLUDED;;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24, INCLUDED; CMH24, INCLUDED
id in db is: 294165
inserted disease: 123100 OMIM #123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1;;CRANIOSYNOSTOSIS; CRS;;CRANIOSTENOSISSCAPHOCEPHALY, INCLUDED;;OXYCEPHALY, INCLUDED
id in db is: 294166
inserted disease: 124900 OMIM #124900 DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1;;HEREDITARY LOW FREQUENCY HEARING LOSS; LFHL1;;DEAFNESS, PROGRESSIVE LOW TONE;;KONIGSMARK SYNDROME
id in db is: 294167
inserted disease: 267900 OMIM RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA
id in db is: 294168
inserted disease: 172150 OMIM 6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY
id in db is: 294169
inserted disease: 601349 OMIM MICROPHTHALMIA, SYNDROMIC 8; MCOPS8
id in db is: 294170
inserted disease: 253290 OMIM #253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS;;PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
id in db is: 294171
inserted disease: 615989 OMIM BARDET-BIEDL SYNDROME 12; BBS12
id in db is: 294172
inserted disease: 93405 ORPHA Syndactyly type 4
id in db is: 294173
inserted disease: 163693 ORPHA 2p21 microdeletion syndrome
id in db is: 294174
inserted disease: 144700 OMIM RENAL CELL CARCINOMA, NONPAPILLARY
id in db is: 294175
inserted disease: 1185 ORPHA Spinocerebellar ataxia-dysmorphism syndrome
id in db is: 294176
inserted disease: 143050 OMIM HUMERORADIAL SYNOSTOSIS
id in db is: 294177
inserted disease: 127 ORPHA Borjeson-Forssman-Lehmann syndrome
id in db is: 294178
inserted disease: 166990 OMIM OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND HYPERTENSION
id in db is: 294179
inserted disease: 615969 OMIM ALPHA-FETOPROTEIN DEFICIENCY; AFPD
id in db is: 294180
inserted disease: 2348 ORPHA Familial partial lipodystrophy, Dunnigan type
id in db is: 294181
inserted disease: 155350 OMIM MEGALENCEPHALY
id in db is: 294182
inserted disease: 125590 OMIM DERMATOGLYPHICS--FINGERPRINT PATTERN
id in db is: 294183
inserted disease: 600151 OMIM BARDET-BIEDL SYNDROME 3; BBS3
id in db is: 294184
inserted disease: 125570 OMIM DERMATOGLYPHICS--ARCH ON ANY DIGIT
id in db is: 294185
inserted disease: 608688 OMIM #608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY;;ATIC DEFICIENCY;;AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
id in db is: 294186
inserted disease: 601954 OMIM MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G
id in db is: 294187
inserted disease: 612645 OMIM #612645 DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B
id in db is: 294188
inserted disease: 600325 OMIM %600325 AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA;;PSEUDOAMINOPTERIN SYNDROME
id in db is: 294189
inserted disease: 612291 OMIM #612291 JOUBERT SYNDROME 8; JBTS8
id in db is: 294190
inserted disease: 178478 ORPHA Infant botulism
id in db is: 294191
inserted disease: 130090 OMIM EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED
id in db is: 294192
inserted disease: 229230 OMIM FRASER-LIKE SYNDROME
id in db is: 294193
inserted disease: 120100 OMIM FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
id in db is: 294194
inserted disease: 263100 OMIM POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS
id in db is: 294195
inserted disease: 184450 OMIM %184450 STUTTERING, FAMILIAL PERSISTENT, 1; STUT1;;STAMMERING
id in db is: 294196
inserted disease: 614186 OMIM #614186 LEBER CONGENITAL AMAUROSIS 16; LCA16
id in db is: 294197
inserted disease: 166950 OMIM TERATOMA, OVARIAN
id in db is: 294198
inserted disease: 607641 OMIM #607641 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B;;HMN VIIB;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB;;DHMN7B;;NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPEVIIB;;LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE
id in db is: 294199
inserted disease: 1448 ORPHA Ring chromosome 6
id in db is: 294200
inserted disease: 2833 ORPHA Stiff skin syndrome
id in db is: 294201
inserted disease: 300963 OMIM #300963 RITSCHER-SCHINZEL SYNDROME 2; RTSC2
id in db is: 294202
inserted disease: 2536 ORPHA Microcornea-glaucoma-absent frontal sinuses syndrome
id in db is: 294203
inserted disease: 909 ORPHA Cerebrotendinous xanthomatosis
id in db is: 294204
inserted disease: 93396 ORPHA Brachydactyly type A2
id in db is: 294205
inserted disease: 222800 OMIM DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE
id in db is: 294206
inserted disease: 3105 ORPHA Robinow-like syndrome
id in db is: 294207
inserted disease: 135550 OMIM FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS
id in db is: 294208
inserted disease: 609218 OMIM #609218 FOVEAL HYPOPLASIA 2; FVH2;;FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/ORANTERIOR SEGMENT DYSGENESIS;;FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIORSEGMENT DYSGENESIS WITHOUT ALBINISM; FHONDA
id in db is: 294209
inserted disease: 164500 OMIM SPINOCEREBELLAR ATAXIA 7 OPCA III OPCA WITH RETINAL DEGENERATION OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II ADCA, TYPE II
id in db is: 294210
inserted disease: 616165 OMIM NEMALINE MYOPATHY 10; NEM10
id in db is: 294211
inserted disease: 306980 OMIM HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY
id in db is: 294212
inserted disease: 604931 OMIM #604931 CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1
id in db is: 294213
inserted disease: 613325 OMIM RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
id in db is: 294214
inserted disease: 607684 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E
id in db is: 294215
inserted disease: 601005 OMIM TIMOTHY SYNDROME
id in db is: 294216
inserted disease: 90673 ORPHA Hypothyroidism due to TSH receptor mutations
id in db is: 294217
inserted disease: 605387 OMIM #605387 CATARACT, POSTERIOR POLAR, 3; CTPP3;;CPP3
id in db is: 294218
inserted disease: 266140 OMIM PYROPOIKILOCYTOSIS, HEREDITARY
id in db is: 294219
inserted disease: 277465 OMIM 277465 VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION
id in db is: 294220
inserted disease: 3376 ORPHA Triploidy
id in db is: 294221
inserted disease: 3098 ORPHA Rhizomelic syndrome, Urbach type
id in db is: 294222
inserted disease: 300960 OMIM MEND SYNDROME; MEND
id in db is: 294223
inserted disease: 1822 ORPHA Dysplasia epiphysealis hemimelica
id in db is: 294224
inserted disease: 260100 OMIM PA POLYMORPHISM OF ALPHA-2-GLOBULIN
id in db is: 294225
inserted disease: 612164 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4
id in db is: 294226
inserted disease: 139471 ORPHA Microphthalmia with brain and digit anomalies
id in db is: 294227
inserted disease: 600302 OMIM 600302 FRYNS MACROCEPHALY;;MACROCEPHALY WITH SPASTIC PARAPLEGIA AND DISTINCTIVE CRANIOFACIALAPPEARANCE
id in db is: 294228
inserted disease: 603956 OMIM #603956 CERVICAL CANCER
id in db is: 294229
inserted disease: 610131 OMIM #610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4; PEOA4;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 4
id in db is: 294230
inserted disease: 189600 OMIM TORTICOLLIS
id in db is: 294231
inserted disease: 613809 OMIM #613809 RETINITIS PIGMENTOSA 39; RP39
id in db is: 294232
inserted disease: 208750 OMIM ATAXIA, DEAFNESS, AND CARDIOMYOPATHY
id in db is: 294233
inserted disease: 230300 OMIM GALACTORRHEA
id in db is: 294234
inserted disease: 615923 OMIM EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE; ECDM
id in db is: 294235
inserted disease: 614493 OMIM #614493 WISKOTT-ALDRICH SYNDROME 2; WAS2;;WIPF1 DEFICIENCY
id in db is: 294236
inserted disease: 70482 ORPHA Carcinoma of esophagus
id in db is: 294237
inserted disease: 94063 ORPHA 12q14 microdeletion syndrome
id in db is: 294238
inserted disease: 608980 OMIM #608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR
id in db is: 294239
inserted disease: 317 ORPHA Erythrokeratodermia variabilis
id in db is: 294240
inserted disease: 600790 OMIM CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
id in db is: 294241
inserted disease: 163 ORPHA Hereditary hyperferritinemia with congenital cataracts
id in db is: 294242
inserted disease: 614470 OMIM RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD
id in db is: 294243
inserted disease: 275543 ORPHA L1 syndrome
id in db is: 294244
inserted disease: 238800 OMIM 238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA
id in db is: 294245
inserted disease: 229717 ORPHA Isolated agammaglobulinemia
id in db is: 294246
inserted disease: 178995 OMIM PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY
id in db is: 294247
inserted disease: 210500 OMIM %210500 BILIARY ATRESIA, EXTRAHEPATIC; EHBA
id in db is: 294248
inserted disease: 612955 OMIM #612955 LONG QT SYNDROME 12; LQT12
id in db is: 294249
inserted disease: 615966 OMIM IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26
id in db is: 294250
inserted disease: 131850 OMIM #131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL;;DEB, PRETIBIAL;;EPIDERMOLYSIS BULLOSA, PRETIBIAL
id in db is: 294251
inserted disease: 152200 OMIM APOLIPOPROTEIN(A)
id in db is: 294252
inserted disease: 248800 OMIM #248800 MARINESCO-SJOGREN SYNDROME; MSS
id in db is: 294253
inserted disease: 567 ORPHA 22q11.2 deletion syndrome
id in db is: 294254
inserted disease: 300802 OMIM #300802 MENTAL RETARDATION, X-LINKED 96; MRX96
id in db is: 294255
inserted disease: 242600 OMIM IMINOGLYCINURIA
id in db is: 294256
inserted disease: 610612 OMIM LEBER CONGENITAL AMAUROSIS 12; LCA12
id in db is: 294257
inserted disease: 163950 OMIM #163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED
id in db is: 294258
inserted disease: 608361 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE
id in db is: 294259
inserted disease: 184300 OMIM SPONDYLOSIS, CERVICAL
id in db is: 294260
inserted disease: 228550 OMIM #228550 MYOFIBROMATOSIS, INFANTILE, 1; IMF1;;MYOFIBROMATOSIS, JUVENILE;;FIBROMATOSIS, CONGENITAL GENERALIZED; CGF
id in db is: 294261
inserted disease: 240300 OMIM #240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLEMETAPHYSEAL DYSPLASIA; APS1;;APS I;;AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY; APECED;;AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I;;POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I;;PGA I;;HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASISAUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT,INCLUDED;;POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED
id in db is: 294262
inserted disease: 137580 OMIM #137580 GILLES DE LA TOURETTE SYNDROME; GTS;;TOURETTE SYNDROME; TS;;TOURETTE DISORDERCHRONIC MOTOR TICS, INCLUDED
id in db is: 294263
inserted disease: 1292 ORPHA Brachymorphism-onychodysplasia-dysphalangism syndrome
id in db is: 294264
inserted disease: 125260 OMIM DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF
id in db is: 294265
inserted disease: 612932 OMIM GLYCOGEN STORAGE DISEASE XIII; GSD13
id in db is: 294266
inserted disease: 601186 OMIM MICROPHTHALMIA, SYNDROMIC 9
id in db is: 294267
inserted disease: 614450 OMIM #614450 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6
id in db is: 294268
inserted disease: 614329 OMIM %614329 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31; MRT31
id in db is: 294269
inserted disease: 114900 OMIM CARCINOID TUMORS, INTESTINAL
id in db is: 294270
inserted disease: 77243 ORPHA Lipedema
id in db is: 294271
inserted disease: 610773 OMIM #610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY;;MPCD
id in db is: 294272
inserted disease: 238970 OMIM #238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME;;HHH SYNDROME; HHHS; HHH;;ORNITHINE TRANSLOCASE DEFICIENCY
id in db is: 294273
inserted disease: 104000 OMIM ALOPECIA AREATA 1; AA1
id in db is: 294274
inserted disease: 250450 OMIM METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY
id in db is: 294275
inserted disease: 614934 OMIM #614934 DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70
id in db is: 294276
inserted disease: 609376 OMIM %609376 CATARACT 35; CTRCT35;;CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1; CATCN1
id in db is: 294277
inserted disease: 79235 ORPHA Crigler-Najjar syndrome type 2
id in db is: 294278
inserted disease: 614025 OMIM #614025 HEPATIC LIPASE DEFICIENCY;;LIPC DEFICIENCY;;HL DEFICIENCY
id in db is: 294279
inserted disease: 99868 ORPHA Thymic carcinoma
id in db is: 294280
inserted disease: 616460 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50; MRT50
id in db is: 294281
inserted disease: 610910 OMIM %610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED;;PAP, ACQUIRED;;PULMONARY ALVEOLAR LIPOPROTEINOSIS, ACQUIRED;;PULMONARY ALVEOLAR PROTEINOSIS, AUTOIMMUNE
id in db is: 294282
inserted disease: 609041 OMIM SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE
id in db is: 294283
inserted disease: 612926 OMIM #612926 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6;;AHUS, SUSCEPTIBILITY TO, 6
id in db is: 294284
inserted disease: 308050 OMIM #308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMBDEFECTS;;CHILD SYNDROME;;ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS,ESPECIALLY ABSENCE DEFORMITY OF LIMBS
id in db is: 294285
inserted disease: 600171 OMIM 600171 GONADAL AGENESIS
id in db is: 294286
inserted disease: 217080 OMIM #217080 JALILI SYNDROME;;CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA
id in db is: 294287
inserted disease: 55654 ORPHA Hypotrichosis simplex
id in db is: 294288
inserted disease: 203700 OMIM #203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A;;ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS;;ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY;;ALPERS SYNDROME;;ALPERS-HUTTENLOCHER SYNDROME;;NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE;PNDC
id in db is: 294289
inserted disease: 603689 OMIM #603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF;;MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; MPRM;;EDSTROM MYOPATHY
id in db is: 294290
inserted disease: 610154 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 44
id in db is: 294291
inserted disease: 2978 ORPHA Chronic intestinal pseudoobstruction
id in db is: 294292
inserted disease: 610489 OMIM PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
id in db is: 294293
inserted disease: 606996 OMIM SENIOR-LOKEN SYNDROME 4; SLSN4
id in db is: 294294
inserted disease: 2850 ORPHA Alopecia-intellectual disability syndrome
id in db is: 294295
inserted disease: 757 ORPHA Pseudohypoaldosteronism type 2
id in db is: 294296
inserted disease: 191700 OMIM 191700 UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT;;NEPHROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT
id in db is: 294297
inserted disease: 435804 ORPHA Short stature-advanced bone age-early-onset osteoarthritis syndrome
id in db is: 294298
inserted disease: 188150 OMIM THUMB DEFORMITY AND ALOPECIA
id in db is: 294299
inserted disease: 311790 OMIM 6-@PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 1
id in db is: 294300
inserted disease: 254504 ORPHA Inhalational botulism
id in db is: 294301
inserted disease: 776 ORPHA X-linked intellectual disability with marfanoid habitus
id in db is: 294302
inserted disease: 245480 OMIM SPECIFIC GRANULE DEFICIENCY
id in db is: 294303
inserted disease: 85167 ORPHA Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
id in db is: 294304
inserted disease: 230650 OMIM #230650 GM1-GANGLIOSIDOSIS, TYPE III;;GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE;;GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3
id in db is: 294305
inserted disease: 601977 OMIM #601977 THROMBOCYTHEMIA 2; THCYT2
id in db is: 294306
inserted disease: 255310 OMIM MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
id in db is: 294307
inserted disease: 616689 OMIM #616689 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2;;XEROCYTOSIS GARDOS;;DESICCYTOSIS GARDOS
id in db is: 294308
inserted disease: 132400 OMIM EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
id in db is: 294309
inserted disease: 600649 OMIM CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
id in db is: 294310
inserted disease: 604369 OMIM #604369 SIALURIA, FINNISH TYPE;;SALLA DISEASE; SD
id in db is: 294311
inserted disease: 275400 OMIM TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION
id in db is: 294312
inserted disease: 261519 ORPHA Maternal uniparental disomy of chromosome X
id in db is: 294313
inserted disease: 300046 OMIM MENTAL RETARDATION, X-LINKED 23
id in db is: 294314
inserted disease: 609993 OMIM OSTEOSCLEROSIS - ICHTHYOSIS - PREMATURE OVARIAN FAILURE
id in db is: 294315
inserted disease: 601160 OMIM LISSENCEPHALY TYPE III AND BONE DYSPLASIA
id in db is: 294316
inserted disease: 176620 OMIM 176620 PRIAPISM, FAMILIAL IDIOPATHIC
id in db is: 294317
inserted disease: 180750 OMIM ROBINOW-SORAUF SYNDROME
id in db is: 294318
inserted disease: 616209 OMIM MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT; IMMD
id in db is: 294319
inserted disease: 1969 ORPHA Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
id in db is: 294320
inserted disease: 219090 OMIM #219090 PITUITARY ADENOMA, ACTH-SECRETING;;CUSHING DISEASE, PITUITARY
id in db is: 294321
inserted disease: 257000 OMIM NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES
id in db is: 294322
inserted disease: 300228 OMIM %300228 TESTICULAR GERM CELL TUMOR 1; TGCT1
id in db is: 294323
inserted disease: 269300 OMIM %269300 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD
id in db is: 294324
inserted disease: 403 ORPHA Familial hyperaldosteronism type I
id in db is: 294325
inserted disease: 219700 OMIM CYSTIC FIBROSIS
id in db is: 294326
inserted disease: 608810 OMIM #608810 MYOPATHY, MYOFIBRILLAR, 2, MFM2;;MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED;;MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE;;ALPHA-B CRYSTALLINOPATHY
id in db is: 294327
inserted disease: 612199 OMIM #612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC;;COATS PLUS SYNDROME
id in db is: 294328
inserted disease: 505 ORPHA Graham Little-Piccardi-Lassueur syndrome
id in db is: 294329
inserted disease: 301950 OMIM 301950 BRANCHIAL ARCH SYNDROME, X-LINKED;;MANDIBULOFACIAL DYSOSTOSIS, TORIELLO TYPE
id in db is: 294330
inserted disease: 180730 OMIM ROMBO SYNDROME
id in db is: 294331
inserted disease: 209100 OMIM %209100 ATONIC-ASTATIC SYNDROME OF FOERSTER
id in db is: 294332
inserted disease: 1104 ORPHA Anophthalmia plus syndrome
id in db is: 294333
inserted disease: 300696 OMIM #300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMAEMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED; EDMD6, INCLUDED
id in db is: 294334
inserted disease: 436274 ORPHA Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
id in db is: 294335
inserted disease: 601163 OMIM %601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTSOF SKULL;;FROSTER SYNDROME
id in db is: 294336
inserted disease: 436003 ORPHA Contractures-developmental delay-Pierre Robin syndrome
id in db is: 294337
inserted disease: 600165 OMIM NANOPHTHALMOS 1
id in db is: 294338
inserted disease: 112910 OMIM BRACHYDACTYLY, TYPE A6
id in db is: 294339
inserted disease: 604377 OMIM CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASEDEFICIENCY
id in db is: 294340
inserted disease: 191250 OMIM TWINNING DUE TO SUPERFETATION
id in db is: 294341
inserted disease: 300848 OMIM #300848 MENTAL RETARDATION, X-LINKED 89; MRX89
id in db is: 294342
inserted disease: 85438 ORPHA Enthesitis-related arthritis
id in db is: 294343
inserted disease: 227200 OMIM EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC
id in db is: 294344
inserted disease: 3186 ORPHA Holoprosencephaly-radial heart renal anomalies syndrome
id in db is: 294345
inserted disease: 251280 OMIM 251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA
id in db is: 294346
inserted disease: 163800 OMIM SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT
id in db is: 294347
inserted disease: 268305 OMIM #268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES;;RICHIERI-COSTA-PEREIRA SYNDROME; RCPS
id in db is: 294348
inserted disease: 75501 ORPHA Ehlers-Danlos syndrome, fibronectinemic type
id in db is: 294349
inserted disease: 246650 OMIM LIPASE DEFICIENCY, COMBINED
id in db is: 294350
inserted disease: 2158 ORPHA Histidinuria-renal tubular defect syndrome
id in db is: 294351
inserted disease: 828 ORPHA Stickler syndrome
id in db is: 294352
inserted disease: 310000 OMIM MUSCULAR DYSTROPHY, MABRY TYPE
id in db is: 294353
inserted disease: 607812 OMIM #607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD;;BOYADJIEV-JABS SYNDROME
id in db is: 294354
inserted disease: 845 ORPHA Tay-Sachs disease
id in db is: 294355
inserted disease: 2878 ORPHA Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
id in db is: 294356
inserted disease: 613174 OMIM CHROMOSOME 5p13 DUPLICATION SYNDROME
id in db is: 294357
inserted disease: 2574 ORPHA Moynahan syndrome
id in db is: 294358
inserted disease: 609021 OMIM PERIPHERAL CONE DYSTROPHY
id in db is: 294359
inserted disease: 2115 ORPHA Harrod syndrome
id in db is: 294360
inserted disease: 146840 OMIM IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION
id in db is: 294361
inserted disease: 192605 OMIM #192605 VENTRICULAR TACHYCARDIA, FAMILIAL;;VENTRICULAR TACHYCARDIA, FAMILIAL POLYMORPHIC
id in db is: 294362
inserted disease: 1798 ORPHA Dysostosis, Stanescu type
id in db is: 294363
inserted disease: 300673 OMIM #300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
id in db is: 294364
inserted disease: 613151 OMIM #613151 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3; MDDGB3;;MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
id in db is: 294365
inserted disease: 615780 OMIM #615780 RETINITIS PIGMENTOSA 69; RP69
id in db is: 294366
inserted disease: 156232 OMIM MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
id in db is: 294367
inserted disease: 614954 OMIM CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3; CHTD3
id in db is: 294368
inserted disease: 93928 ORPHA Epispadias
id in db is: 294369
inserted disease: 142680 OMIM PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
id in db is: 294370
inserted disease: 611945 OMIM %611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37
id in db is: 294371
inserted disease: 610947 OMIM #610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2
id in db is: 294372
inserted disease: 615636 OMIM JOUBERT SYNDROME 21; JBTS21
id in db is: 294373
inserted disease: 2013 ORPHA Cleft palate-large ears-small head syndrome
id in db is: 294374
inserted disease: 261740 OMIM GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
id in db is: 294375
inserted disease: 300387 OMIM #300387 MENTAL RETARDATION, X-LINKED 63; MRX63;;MENTAL RETARDATION, X-LINKED 68; MRX68
id in db is: 294376
inserted disease: 3169 ORPHA Sirenomelia
id in db is: 294377
inserted disease: 128600 OMIM EAR MALFORMATION
id in db is: 294378
inserted disease: 147251 OMIM INCISORS, FUSED MANDIBULAR
id in db is: 294379
inserted disease: 79361 ORPHA Inherited epidermolysis bullosa
id in db is: 294380
inserted disease: 137560 OMIM GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA
id in db is: 294381
inserted disease: 234350 OMIM 234350 HALOTHANE HEPATITIS
id in db is: 294382
inserted disease: 613944 OMIM %613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2; IGAN2
id in db is: 294383
inserted disease: 616632 OMIM SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS
id in db is: 294384
inserted disease: 32 DECIPHER 22q11 duplication syndrome
id in db is: 294385
inserted disease: 608653 OMIM %608653 DEAFNESS, AUTOSOMAL RECESSIVE 32; DFNB32
id in db is: 294386
inserted disease: 89843 ORPHA Dystrophic epidermolysis bullosa pruriginosa
id in db is: 294387
inserted disease: 3357 ORPHA Autosomal dominant trichoodontoonychodysplasia-syndactyly
id in db is: 294388
inserted disease: 120433 OMIM #120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE,AND/OR MENTAL RETARDATION
id in db is: 294389
inserted disease: 608203 OMIM NEUTROPHIL IMMUNODEFICIENCY SYNDROME
id in db is: 294390
inserted disease: 226850 OMIM EPILEPSY-TELANGIECTASIA
id in db is: 294391
inserted disease: 615485 OMIM #615485 BAINBRIDGE-ROPERS SYNDROME; BRPS
id in db is: 294392
inserted disease: 151500 OMIM LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF
id in db is: 294393
inserted disease: 108800 OMIM ATRIAL SEPTAL DEFECT 1
id in db is: 294394
inserted disease: 79430 ORPHA Hermansky-Pudlak syndrome
id in db is: 294395
inserted disease: 613657 OMIM #613657 D-2-@HYDROXYGLUTARIC ACIDURIA 2;;D2HGA2
id in db is: 294396
inserted disease: 79152 ORPHA Disseminated superficial actinic porokeratosis
id in db is: 294397
inserted disease: 610765 OMIM #610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE;;ARIH
id in db is: 294398
inserted disease: 613038 OMIM #613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1
id in db is: 294399
inserted disease: 793 ORPHA SAPHO syndrome
id in db is: 294400
inserted disease: 122880 OMIM CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
id in db is: 294401
inserted disease: 147540 OMIM INSECT STINGS, HYPERSENSITIVITY TO
id in db is: 294402
inserted disease: 227850 OMIM FANCONI-LIKE SYNDROME
id in db is: 294403
inserted disease: 107000 OMIM %107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6;;ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;;ANONYCHIA, PARTIAL
id in db is: 294404
inserted disease: 171450 OMIM PHLEBECTASIA OF LIPS
id in db is: 294405
inserted disease: 79242 ORPHA Holocarboxylase synthetase deficiency
id in db is: 294406
inserted disease: 311150 OMIM OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
id in db is: 294407
inserted disease: 601198 OMIM #601198 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1;;HYPERCALCIURIC HYPOCALCEMIA;;HYPOCALCEMIA, FAMILIALHYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME, INCLUDED
id in db is: 294408
inserted disease: 187601 OMIM THANATOPHORIC DYSPLASIA, TYPE II
id in db is: 294409
inserted disease: 266910 OMIM 266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME;;RL SYNDROME
id in db is: 294410
inserted disease: 603010 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 17; DFNB17
id in db is: 294411
inserted disease: 276880 OMIM #276880 UROCANASE DEFICIENCY
id in db is: 294412
inserted disease: 616345 OMIM #616345 IMMUNODEFICIENCY 39; IMD39
id in db is: 294413
inserted disease: 2643 ORPHA Microcephalic primordial dwarfism, Toriello type
id in db is: 294414
inserted disease: 2745 ORPHA Opitz G/BBB syndrome
id in db is: 294415
inserted disease: 615327 OMIM #615327 DOWLING-DEGOS DISEASE 2; DDD2
id in db is: 294416
inserted disease: 136100 OMIM FINGERS, RELATIVE LENGTH OF
id in db is: 294417
inserted disease: 601357 OMIM BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH
id in db is: 294418
inserted disease: 1563 ORPHA Dahlberg-Borer-Newcomer syndrome
id in db is: 294419
inserted disease: 1461 ORPHA Criss-cross heart
id in db is: 294420
inserted disease: 304020 OMIM #304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1;;CONE DYSTROPHY 1, X-LINKED; COD1
id in db is: 294421
inserted disease: 254900 OMIM #254900 EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE;EPM4;;ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF;;MYOCLONUS-NEPHROPATHY SYNDROME
id in db is: 294422
inserted disease: 615946 OMIM MYOPIA 24, AUTOSOMAL DOMINANT; MYP24
id in db is: 294423
inserted disease: 610478 OMIM #610478 RETINAL CONE DYSTROPHY 4; RCD4
id in db is: 294424
inserted disease: 612949 OMIM HYPOMYELINATION, GLOBAL CEREBRAL
id in db is: 294425
inserted disease: 79323 ORPHA MPDU1-CDG
id in db is: 294426
inserted disease: 614335 OMIM #614335 ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B
id in db is: 294427
inserted disease: 610420 OMIM PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1
id in db is: 294428
inserted disease: 1551 ORPHA Familial benign copper deficiency
id in db is: 294429
inserted disease: 325124 ORPHA Testicular agenesis
id in db is: 294430
inserted disease: 252600 OMIM #252600 MUCOLIPIDOSIS III ALPHA/BETA;;ML III ALPHA/BETA;;MUCOLIPIDOSIS IIIA; ML IIIA;;MUCOLIPIDOSIS III;;ML III;;PSEUDO-HURLER POLYDYSTROPHYMUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
id in db is: 294431
inserted disease: 616322 OMIM MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B
id in db is: 294432
inserted disease: 63260 ORPHA Craniorachischisis
id in db is: 294433
inserted disease: 85165 ORPHA Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
id in db is: 294434
inserted disease: 301800 OMIM ANUS, IMPERFORATE
id in db is: 294435
inserted disease: 613762 OMIM #613762 46,XY SEX REVERSAL 6; SRXY6;;46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED;;46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, MAP3K1-RELATED
id in db is: 294436
inserted disease: 90350 ORPHA Autosomal recessive cutis laxa type 2
id in db is: 294437
inserted disease: 2762 ORPHA Progressive osseous heteroplasia
id in db is: 294438
inserted disease: 93315 ORPHA Spondylometaphyseal dysplasia, 'corner fracture' type
id in db is: 294439
inserted disease: 115197 OMIM CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
id in db is: 294440
inserted disease: 615760 OMIM MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA
id in db is: 294441
inserted disease: 616314 OMIM MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C
id in db is: 294442
inserted disease: 116300 OMIM CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE
id in db is: 294443
inserted disease: 229 ORPHA Familial aortic dissection
id in db is: 294444
inserted disease: 130070 OMIM EHLERS-DANLOS SYNDROME, PROGEROID FORM
id in db is: 294445
inserted disease: 2916 ORPHA Postaxial polydactyly-dental and vertebral anomalies syndrome
id in db is: 294446
inserted disease: 611771 OMIM #611771 LIPOPROTEIN GLOMERULOPATHY; LPG
id in db is: 294447
inserted disease: 611783 OMIM #611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4
id in db is: 294448
inserted disease: 232 ORPHA Sickle cell anemia
id in db is: 294449
inserted disease: 610443 OMIM #610443 KOOLEN-DE VRIES SYNDROME; KDVS;;CHROMOSOME 17q21.31 DELETION SYNDROME;;MICRODELETION 17q21.31 SYNDROME
id in db is: 294450
inserted disease: 234810 OMIM #234810 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2;;HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY
id in db is: 294451
inserted disease: 612798 OMIM #612798 QUESTION MARK EARS, ISOLATED; QME;;EARS, PROMINENT AND CONSTRICTED;;COSMAN DEFORMITY OF THE AURICLE;;AURICULAR CLEFT, CONGENITAL
id in db is: 294452
inserted disease: 118000 OMIM CERVICAL VERTEBRAL BRIDGE
id in db is: 294453
inserted disease: 615934 OMIM STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI
id in db is: 294454
inserted disease: 2591 ORPHA Infantile myofibromatosis
id in db is: 294455
inserted disease: 97290 ORPHA Familial papillary thyroid carcinoma with renal papillary neoplasia
id in db is: 294456
inserted disease: 168200 OMIM PARAMOLAR TUBERCLE OF BOLK
id in db is: 294457
inserted disease: 211200 OMIM 211200 BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
id in db is: 294458
inserted disease: 615025 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q
id in db is: 294459
inserted disease: 614931 OMIM #614931 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9
id in db is: 294460
inserted disease: 241310 OMIM %241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
id in db is: 294461
inserted disease: 85336 ORPHA X-linked neurodegenerative syndrome, Hamel type
id in db is: 294462
inserted disease: 122455 OMIM CORONARY ARTERY DISSECTION, SPONTANEOUS
id in db is: 294463
inserted disease: 239500 OMIM #239500 HYPERPROLINEMIA, TYPE I; HPI;;PROLINE OXIDASE DEFICIENCY
id in db is: 294464
inserted disease: 1040 ORPHA Metaphyseal anadysplasia
id in db is: 294465
inserted disease: 609814 OMIM COMPLEMENT FACTOR H DEFICIENCY
id in db is: 294466
inserted disease: 1380 ORPHA Cataract-nephropathy-encephalopathy syndrome
id in db is: 294467
inserted disease: 616171 OMIM MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2
id in db is: 294468
inserted disease: 28 ORPHA Vitamin B12-responsive methylmalonic acidemia
id in db is: 294469
inserted disease: 91387 ORPHA Familial thoracic aortic aneurysm and aortic dissection
id in db is: 294470
inserted disease: 616357 OMIM #616357 DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40
id in db is: 294471
inserted disease: 300321 OMIM #300321 FG SYNDROME 2; FGS2
id in db is: 294472
inserted disease: 2196 ORPHA Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
id in db is: 294473
inserted disease: 302950 OMIM CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
id in db is: 294474
inserted disease: 261400 OMIM PERONEUS TERTIUS MUSCLE, ABSENCE OF
id in db is: 294475
inserted disease: 607847 OMIM #607847 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS;;NONIMMUNE CHRONIC IDIOPATHIC NEUTROPENIA OF ADULTS;;NI-CINA
id in db is: 294476
inserted disease: 613750 OMIM #613750 RETINITIS PIGMENTOSA 27; RP27
id in db is: 294477
inserted disease: 207720 OMIM 207720 APNEA, CENTRAL SLEEP;;SLEEP APNEA, LETHAL CENTRAL
id in db is: 294478
inserted disease: 241600 OMIM HYPOPROTEINEMIA, HYPERCATABOLIC
id in db is: 294479
inserted disease: 608389 OMIM #608389 BRANCHIOOTIC SYNDROME 3; BOS3;;BO SYNDROME 3
id in db is: 294480
inserted disease: 189150 OMIM TOE, ROTATED FIFTH
id in db is: 294481
inserted disease: 137100 OMIM IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1
id in db is: 294482
inserted disease: 253900 OMIM MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS
id in db is: 294483
inserted disease: 614495 OMIM #614495 PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D;;FAMILIAL HYPERKALEMIC HYPERTENSION; FHHT
id in db is: 294484
inserted disease: 615483 OMIM BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
id in db is: 294485
inserted disease: 300804 OMIM #300804 JOUBERT SYNDROME 10; JBTS10
id in db is: 294486
inserted disease: 614485 OMIM #614485 TRIGONOCEPHALY 2; TRIGNO2;;CRANIOSYNOSTOSIS, METOPIC
id in db is: 294487
inserted disease: 149400 OMIM HYPEREKPLEXIA, HEREDITARY
id in db is: 294488
inserted disease: 615473 OMIM #615473 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17
id in db is: 294489
inserted disease: 2027 ORPHA Gingival fibromatosis-progressive deafness syndrome
id in db is: 294490
inserted disease: 612018 OMIM #612018 CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA;;CJMG
id in db is: 294491
inserted disease: 612947 OMIM 612947 MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE
id in db is: 294492
inserted disease: 137831 ORPHA X-linked intellectual disability-cerebellar hypoplasia syndrome
id in db is: 294493
inserted disease: 225200 OMIM %225200 ECTOPIA LENTIS ET PUPILLAE;;ECTOPIA LENTIS WITH ECTOPIA OF PUPIL
id in db is: 294494
inserted disease: 608837 OMIM #608837 CARNEY COMPLEX VARIANT
id in db is: 294495
inserted disease: 610156 OMIM MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS
id in db is: 294496
inserted disease: 245010 OMIM HAIM-MUNK SYNDROME
id in db is: 294497
inserted disease: 300376 OMIM #300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD;;BECKER MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
id in db is: 294498
inserted disease: 2467 ORPHA Systemic mastocytosis
id in db is: 294499
inserted disease: 139466 ORPHA SERKAL syndrome
id in db is: 294500
inserted disease: 121400 OMIM %121400 CORNEA PLANA 1; CNA1
id in db is: 294501
inserted disease: 614498 OMIM RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL
id in db is: 294502
inserted disease: 246 ORPHA Postaxial acrofacial dysostosis
id in db is: 294503
inserted disease: 614017 OMIM #614017 CILIARY DYSKINESIA, PRIMARY, 16; CILD16;;CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS
id in db is: 294504
inserted disease: 169079 ORPHA Cernunnos-XLF deficiency
id in db is: 294505
inserted disease: 136580 OMIM #136580 FRAGILE SITE 16q22; FRA16A
id in db is: 294506
inserted disease: 269600 OMIM SEA-BLUE HISTIOCYTE DISEASE
id in db is: 294507
inserted disease: 31 DECIPHER Hereditary Liability to Pressure Palsies (HNPP)
id in db is: 294508
inserted disease: 600634 OMIM PITUITARY ADENOMA, PROLACTIN-SECRETING
id in db is: 294509
inserted disease: 605192 OMIM DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
id in db is: 294510
inserted disease: 611131 OMIM #611131 RETINITIS PIGMENTOSA 37; RP37
id in db is: 294511
inserted disease: 417 ORPHA Neonatal severe primary hyperparathyroidism
id in db is: 294512
inserted disease: 612934 OMIM GLYCOGEN STORAGE DISEASE XIV; GSD14
id in db is: 294513
inserted disease: 221820 OMIM #221820 LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS;;LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROIDS, AUTOSOMAL DOMINANT;;GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL; GPSC;;DEMENTIA, FAMILIAL, NEUMANN TYPE;;SUBCORTICAL GLIOSIS OF NEUMANN
id in db is: 294514
inserted disease: 60 ORPHA Alpha-1-antitrypsin deficiency
id in db is: 294515
inserted disease: 614946 OMIM #614946 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14
id in db is: 294516
inserted disease: 237500 OMIM DUBIN-JOHNSON SYNDROME
id in db is: 294517
inserted disease: 205400 OMIM #205400 TANGIER DISEASE; TGD;;HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1; HDLDT1;;HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE;;ANALPHALIPOPROTEINEMIA
id in db is: 294518
inserted disease: 615349 OMIM #615349 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; EDSP2
id in db is: 294519
inserted disease: 610189 OMIM #610189 SENIOR-LOKEN SYNDROME 6; SLSN6
id in db is: 294520
inserted disease: 275864 ORPHA Behavioral variant of frontotemporal dementia
id in db is: 294521
inserted disease: 85443 ORPHA AL amyloidosis
id in db is: 294522
inserted disease: 611615 OMIM CARDIOMYOPATHY, DILATED, 1X
id in db is: 294523
inserted disease: 608363 OMIM #608363 CHROMOSOME 22q11.2 DUPLICATION SYNDROME;;CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME
id in db is: 294524
inserted disease: 49382 ORPHA Achromatopsia
id in db is: 294525
inserted disease: 93 ORPHA Aspartylglucosaminuria
id in db is: 294526
inserted disease: 120435 OMIM LYNCH SYNDROME I
id in db is: 294527
inserted disease: 250900 OMIM %250900 METHIONINE MALABSORPTION SYNDROME;;SMITH-STRANG DISEASE;;OASTHOUSE URINE DISEASE
id in db is: 294528
inserted disease: 613153 OMIM #613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5; MDDGA5;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
id in db is: 294529
inserted disease: 157965 ORPHA Ehlers-Danlos syndrome, spondylocheirodysplastic type
id in db is: 294530
inserted disease: 109800 OMIM BLADDER CANCER
id in db is: 294531
inserted disease: 221800 OMIM DERMOCHONDROCORNEAL DYSTROPHY
id in db is: 294532
inserted disease: 310470 OMIM NEUROPATHY, HEREDITARY SENSORY, X-LINKED
id in db is: 294533
inserted disease: 116600 OMIM #116600 CATARACT, POSTERIOR POLAR, 1; CTPP1;;CTPP;;CTPACATARACT, CONGENITAL TOTAL, INCLUDED
id in db is: 294534
inserted disease: 277100 OMIM VALINEMIA
id in db is: 294535
inserted disease: 605827 OMIM BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT
id in db is: 294536
inserted disease: 301815 OMIM ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTALDELAY
id in db is: 294537
inserted disease: 257300 OMIM #257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1;;MVA SYNDROME
id in db is: 294538
inserted disease: 1532 ORPHA Gómez-López-Hernández syndrome
id in db is: 294539
inserted disease: 2229 ORPHA Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
id in db is: 294540
inserted disease: 178650 OMIM PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHICABNORMALITIES
id in db is: 294541
inserted disease: 98881 ORPHA Familial dysfibrinogenemia
id in db is: 294542
inserted disease: 613327 OMIM #613327 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4;;BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULARDYSTROPHY;;LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 4, WITH MUSCULARDYSTROPHY
id in db is: 294543
inserted disease: 615005 OMIM EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5
id in db is: 294544
inserted disease: 189 ORPHA Hidrotic ectodermal dysplasia
id in db is: 294545
inserted disease: 143095 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
id in db is: 294546
inserted disease: 614622 OMIM %614622 KERATOCONUS 5; KTCN5
id in db is: 294547
inserted disease: 79411 ORPHA Transient bullous dermolysis of the newborn
id in db is: 294548
inserted disease: 85198 ORPHA Dysspondyloenchondromatosis
id in db is: 294549
inserted disease: 107480 OMIM #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
id in db is: 294550
inserted disease: 615954 OMIM ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2
id in db is: 294551
inserted disease: 101600 OMIM #101600 PFEIFFER SYNDROME;;ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;ACS V;;NOACK SYNDROMECRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
id in db is: 294552
inserted disease: 605389 OMIM #605389 HYPOTRICHOSIS 1; HYPT1;;HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY; HHS;;HTS
id in db is: 294553
inserted disease: 93947 ORPHA X-linked intellectual disability, Golabi-Ito-Hall type
id in db is: 294554
inserted disease: 129600 OMIM ECTOPIA LENTIS, ISOLATED
id in db is: 294555
inserted disease: 600624 OMIM %600624 CONE-ROD DYSTROPHY 1; CORD1;;CRD1
id in db is: 294556
inserted disease: 606170 OMIM GENITOPATELLAR SYNDROME; GTPTS
id in db is: 294557
inserted disease: 609698 OMIM #609698 THYROID HORMONE METABOLISM, ABNORMAL
id in db is: 294558
inserted disease: 655 ORPHA Nephronophthisis
id in db is: 294559
inserted disease: 227255 OMIM 227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
id in db is: 294560
inserted disease: 129750 OMIM ECTOPIA PUPILLAE
id in db is: 294561
inserted disease: 266900 OMIM SENIOR-LOKEN SYNDROME 1
id in db is: 294562
inserted disease: 605676 OMIM CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK
id in db is: 294563
inserted disease: 90024 ORPHA Deafness with labyrinthine aplasia, microtia, and microdontia
id in db is: 294564
inserted disease: 601495 OMIM #601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT
id in db is: 294565
inserted disease: 2008 ORPHA Acro-cardio-facial syndrome
id in db is: 294566
inserted disease: 602483 OMIM AURICULOCONDYLAR SYNDROME 1
id in db is: 294567
inserted disease: 607208 OMIM #607208 DRAVET SYNDROME;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6;;SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
id in db is: 294568
inserted disease: 809 ORPHA Mixed connective tissue disease
id in db is: 294569
inserted disease: 230000 OMIM #230000 FUCOSIDOSIS;;ALPHA-L-FUCOSIDASE DEFICIENCY
id in db is: 294570
inserted disease: 108010 OMIM ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
id in db is: 294571
inserted disease: 242300 OMIM #242300 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1;;ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION;;COLLODION BABY, SELF-HEALING; SHCB;;ICHTHYOSIS CONGENITA;;LAMELLAR EXFOLIATION OF NEWBORN;;DESQUAMATION OF NEWBORN;;COLLODION FETUS;;ICHTHYOSIS CONGENITA II; ICR2;;ICHTHYOSIS, LAMELLAR, 1, FORMERLY; LI1, FORMERLY
id in db is: 294572
inserted disease: 2075 ORPHA Genito-palato-cardiac syndrome
id in db is: 294573
inserted disease: 64739 ORPHA Ovarian hyperstimulation syndrome
id in db is: 294574
inserted disease: 101077 ORPHA X-linked Charcot-Marie-Tooth disease type 3
id in db is: 294575
inserted disease: 613647 OMIM #613647 SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48
id in db is: 294576
inserted disease: 614669 OMIM #614669 AURICULOCONDYLAR SYNDROME 2; ARCND2
id in db is: 294577
inserted disease: 79492 ORPHA Pili gemini
id in db is: 294578
inserted disease: 79408 ORPHA Severe generalized recessive dystrophic epidermolysis bullosa
id in db is: 294579
inserted disease: 116920 OMIM LEUKOCYTE ADHESION DEFICIENCY, TYPE I
id in db is: 294580
inserted disease: 313490 OMIM TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS
id in db is: 294581
inserted disease: 1703 ORPHA Mosaic trisomy 14
id in db is: 294582
inserted disease: 1770 ORPHA XY type gonadal dysgenesis-associated anomalies syndrome
id in db is: 294583
inserted disease: 165660 OMIM %165660 OSLAM SYNDROME;;OSTEOSARCOMA, LIMB ANOMALIES, AND MACROCYTOSIS;;OSTEOSARCOMA, LIMB ANOMALIES, AND ERYTHROID MACROCYTOSIS WITH MEGALOBLASTICMARROW
id in db is: 294584
inserted disease: 167030 OMIM NEPHROLITHIASIS, CALCIUM OXALATE
id in db is: 294585
inserted disease: 600002 OMIM EIKEN SKELETAL DYSPLASIA
id in db is: 294586
inserted disease: 134400 OMIM FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS
id in db is: 294587
inserted disease: 2025 ORPHA Gingival fibromatosis-facial dysmorphism syndrome
id in db is: 294588
inserted disease: 614325 OMIM #614325 PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2
id in db is: 294589
inserted disease: 137270 OMIM GASTROCUTANEOUS SYNDROME
id in db is: 294590
inserted disease: 1941 ORPHA Juvenile absence epilepsy
id in db is: 294591
inserted disease: 859 ORPHA Transcobalamin deficiency
id in db is: 294592
inserted disease: 607676 OMIM IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY
id in db is: 294593
inserted disease: 601472 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
id in db is: 294594
inserted disease: 100976 ORPHA Bathing suit ichthyosis
id in db is: 294595
inserted disease: 614969 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7
id in db is: 294596
inserted disease: 439232 ORPHA AApoAIV amyloidosis
id in db is: 294597
inserted disease: 270700 OMIM #270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15;;SPASTIC PARAPLEGIA AND RETINAL DEGENERATION;;KJELLIN SYNDROME
id in db is: 294598
inserted disease: 104310 OMIM ALZHEIMER DISEASE 2
id in db is: 294599
inserted disease: 208100 OMIM ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE
id in db is: 294600
inserted disease: 168624 ORPHA Familial scaphocephaly syndrome, McGillivray type
id in db is: 294601
inserted disease: 47045 ORPHA Familial cold urticaria
id in db is: 294602
inserted disease: 65285 ORPHA Lhermitte-Duclos disease
id in db is: 294603
inserted disease: 233800 OMIM GROUPED PIGMENTATION OF THE MACULA
id in db is: 294604
inserted disease: 2712 ORPHA Oculofaciocardiodental syndrome
id in db is: 294605
inserted disease: 305670 OMIM GASTRIN-RELEASING PEPTIDE RECEPTOR
id in db is: 294606
inserted disease: 3409 ORPHA Urban-Rogers-Meyer syndrome
id in db is: 294607
inserted disease: 2246 ORPHA Cerebellar hypoplasia-tapetoretinal degeneration syndrome
id in db is: 294608
inserted disease: 305660 OMIM GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-3
id in db is: 294609
inserted disease: 264110 OMIM PROLACTIN DEFICIENCY, ISOLATED
id in db is: 294610
inserted disease: 638 ORPHA Neurofibromatosis-Noonan syndrome
id in db is: 294611
inserted disease: 319213 ORPHA Lujo hemorrhagic fever
id in db is: 294612
inserted disease: 185460 OMIM SULFHEMOGLOBINEMIA, CONGENITAL
id in db is: 294613
inserted disease: 600496 OMIM MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III
id in db is: 294614
inserted disease: 1035 ORPHA Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
id in db is: 294615
inserted disease: 310460 OMIM %310460 MYOPIA 1, X-LINKED; MYP1
id in db is: 294616
inserted disease: 613163 OMIM GABA-TRANSAMINASE DEFICIENCY
id in db is: 294617
inserted disease: 85286 ORPHA X-linked intellectual disability, Shashi type
id in db is: 294618
inserted disease: 215550 OMIM CIRCUMVALLATE PLACENTA SYNDROME
id in db is: 294619
inserted disease: 264120 OMIM PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES
id in db is: 294620
inserted disease: 117300 OMIM DEMENTIA, FAMILIAL DANISH
id in db is: 294621
inserted disease: 268900 OMIM SARCOSINEMIA
id in db is: 294622
inserted disease: 2044 ORPHA Floating-Harbor syndrome
id in db is: 294623
inserted disease: 611498 OMIM #611498 NEPHRONOPHTHISIS 7; NPHP7
id in db is: 294624
inserted disease: 608673 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L
id in db is: 294625
inserted disease: 166350 OMIM #166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; POH;;ECTOPIC OSSIFICATION, FAMILIAL;;OSTEOMA CUTIS
id in db is: 294626
inserted disease: 612924 OMIM #612924 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4;;AHUS, SUSCEPTIBILITY TO, 4
id in db is: 294627
inserted disease: 601027 OMIM TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLARARACHNOID CYST, AND OTHER ANOMALIES
id in db is: 294628
inserted disease: 612783 OMIM #612783 IMMUNODEFICIENCY 10; IMD10;;IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT2;;STIM1 DEFICIENCY
id in db is: 294629
inserted disease: 604367 OMIM #604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3;;LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
id in db is: 294630
inserted disease: 227 ORPHA Diphallia
id in db is: 294631
inserted disease: 79254 ORPHA Classic phenylketonuria
id in db is: 294632
inserted disease: 253600 OMIM #253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2; LGMD2;;MUSCULAR DYSTROPHY, PELVOFEMORAL;;LEYDEN-MOEBIUS MUSCULAR DYSTROPHY;;CALPAINOPATHYMYOSITIS, EOSINOPHILIC, INCLUDED
id in db is: 294633
inserted disease: 601979 OMIM HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION
id in db is: 294634
inserted disease: 611451 OMIM #611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
id in db is: 294635
inserted disease: 93317 ORPHA Spondylometaphyseal dysplasia, Sedaghatian type
id in db is: 294636
inserted disease: 245000 OMIM PAPILLON-LEFEVRE SYNDROME
id in db is: 294637
inserted disease: 614979 OMIM SPLENOMEGALY, CYTOPENIA, AND VISION LOSS
id in db is: 294638
inserted disease: 79273 ORPHA Hereditary coproporphyria
id in db is: 294639
inserted disease: 211530 OMIM #211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1;;BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS;;PONTOBULBAR PALSY WITH DEAFNESS
id in db is: 294640
inserted disease: 93384 ORPHA Brachydactyly type C
id in db is: 294641
inserted disease: 104300 OMIM ALZHEIMER DISEASE
id in db is: 294642
inserted disease: 608089 OMIM ENDOMETRIAL CANCER
id in db is: 294643
inserted disease: 615312 OMIM %615312 ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5
id in db is: 294644
inserted disease: 300653 OMIM #300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY;;PGK1 DEFICIENCY
id in db is: 294645
inserted disease: 210200 OMIM 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D
id in db is: 294646
inserted disease: 300218 OMIM SYNDROMIC X-LINKED INTELLECTUAL DISABILITY 7
id in db is: 294647
inserted disease: 277580 OMIM WAARDENBURG-SHAH SYNDROME
id in db is: 294648
inserted disease: 608995 OMIM DYSLEXIA, SUSCEPTIBILITY TO, 8
id in db is: 294649
inserted disease: 606528 OMIM HOMOZYGOUS 11P15-P14 DELETION SYNDROME
id in db is: 294650
inserted disease: 616037 OMIM CILIARY DYSKINESIA, PRIMARY, 30; CILD30
id in db is: 294651
inserted disease: 243000 OMIM INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP
id in db is: 294652
inserted disease: 610476 OMIM #610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11; ARVC11ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILDPALMOPLANTAR KERATODERMA AND WOOLLY HAIR, INCLUDED
id in db is: 294653
inserted disease: 435628 ORPHA Keppen-Lubinsky syndrome
id in db is: 294654
inserted disease: 1375 ORPHA Cataract-hypertrichosis-intellectual disability syndrome
id in db is: 294655
inserted disease: 300699 OMIM MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW
id in db is: 294656
inserted disease: 609054 OMIM #609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
id in db is: 294657
inserted disease: 129900 OMIM %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1
id in db is: 294658
inserted disease: 261100 OMIM #261100 MEGALOBLASTIC ANEMIA 1;;MGA1;;IMERSLUND-GRASBECK SYNDROME; IGS;;PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTIONOF VITAMIN B12, WITH PROTEINURIA;;ENTEROCYTE COBALAMIN MALABSORPTION;;ENTEROCYTE INTRINSIC FACTOR RECEPTOR, DEFECT OF
id in db is: 294659
inserted disease: 614337 OMIM #614337 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4
id in db is: 294660
inserted disease: 79083 ORPHA PPARG-related familial partial lipodystrophy
id in db is: 294661
inserted disease: 1620 ORPHA Distal monosomy 3p
id in db is: 294662
inserted disease: 261265 ORPHA 17q12 microdeletion syndrome
id in db is: 294663
inserted disease: 271700 OMIM #271700 SPONDYLOPERIPHERAL DYSPLASIA;;SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA
id in db is: 294664
inserted disease: 239510 OMIM HYPERPROLINEMIA, TYPE II
id in db is: 294665
inserted disease: 613612 OMIM #613612 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I;;CDG IIi; CDGIIi
id in db is: 294666
inserted disease: 613969 OMIM %613969 MYOPIA 19, AUTOSOMAL DOMINANT; MYP19
id in db is: 294667
inserted disease: 119300 OMIM VAN DER WOUDE SYNDROME
id in db is: 294668
inserted disease: 90654 ORPHA Stickler syndrome type 2
id in db is: 294669
inserted disease: 303650 OMIM COLONIC ATRESIA
id in db is: 294670
inserted disease: 607341 OMIM FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT
id in db is: 294671
inserted disease: 602014 OMIM HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
id in db is: 294672
inserted disease: 601780 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 6
id in db is: 294673
inserted disease: 207410 OMIM #207410 ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;ABS2;;TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME;;MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES;;OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
id in db is: 294674
inserted disease: 604805 OMIM SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
id in db is: 294675
inserted disease: 102300 OMIM RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1
id in db is: 294676
inserted disease: 611773 OMIM #611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;HANAC
id in db is: 294677
inserted disease: 2793 ORPHA Otoonychoperoneal syndrome
id in db is: 294678
inserted disease: 227220 OMIM SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
id in db is: 294679
inserted disease: 615163 OMIM %615163 CONE-ROD DYSTROPHY 17; CORD17
id in db is: 294680
inserted disease: 615325 OMIM #615325 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R; LGMD2R
id in db is: 294681
inserted disease: 273400 OMIM TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, ANDOTHER ABNORMALITIES
id in db is: 294682
inserted disease: 108 ORPHA Babesiosis
id in db is: 294683
inserted disease: 614782 OMIM #614782 TREMOR, HEREDITARY ESSENTIAL, 4; ETM4
id in db is: 294684
inserted disease: 613005 OMIM 613005 SANTOS SYNDROME;;FIBULAR AGENESIS/HYPOPLASIA, OLIGODACTYLOUS CLUBFEET, AND ANONYCHIA/NAILHYPOPLASIA SYNDROME
id in db is: 294685
inserted disease: 615770 OMIM ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15
id in db is: 294686
inserted disease: 614944 OMIM #614944 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
id in db is: 294687
inserted disease: 601808 OMIM #601808 CHROMOSOME 18q DELETION SYNDROME;;CHROMOSOME 18q- SYNDROME;;18q- SYNDROME
id in db is: 294688
inserted disease: 210210 OMIM 3-@METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
id in db is: 294689
inserted disease: 602196 OMIM PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES
id in db is: 294690
inserted disease: 208158 OMIM ARTHROGRYPOSIS - HYPERKERATOSIS, LETHAL FORM
id in db is: 294691
inserted disease: 600808 OMIM %600808 ENURESIS, NOCTURNAL, 2; ENUR2
id in db is: 294692
inserted disease: 85338 ORPHA X-linked intellectual disability-ataxia-apraxia syndrome
id in db is: 294693
inserted disease: 222500 OMIM DIASTEMATOMYELIA
id in db is: 294694
inserted disease: 305350 OMIM 305350 EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2
id in db is: 294695
inserted disease: 179650 OMIM RED CELL PERMEABILITY DEFECT
id in db is: 294696
inserted disease: 598500 OMIM WOLFRAM SYNDROME, MITOCHONDRIAL FORM
id in db is: 294697
inserted disease: 260570 OMIM 260570 PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN
id in db is: 294698
inserted disease: 602482 OMIM #602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3;;AXENFELD-RIEGER ANOMALY WITH OR WITHOUT CARDIAC DEFECTS AND/OR SENSORINEURALHEARING LOSS;;ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS;;ANTERIOR CHAMBER CLEAVAGE SYNDROME;;RIEGER SYNDROME, TYPE 3AXENFELD ANOMALY, INCLUDED;;RIEGER ANOMALY, INCLUDED;;AXENFELD-RIEGER ANOMALY, INCLUDED
id in db is: 294699
inserted disease: 614198 OMIM MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16
id in db is: 294700
inserted disease: 122100 OMIM CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN
id in db is: 294701
inserted disease: 616482 OMIM ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN
id in db is: 294702
inserted disease: 610798 OMIM IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
id in db is: 294703
inserted disease: 615198 OMIM %615198 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; OSMD
id in db is: 294704
inserted disease: 603964 OMIM %603964 DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16
id in db is: 294705
inserted disease: 100600 OMIM ACANTHOSIS NIGRICANS
id in db is: 294706
inserted disease: 236500 OMIM 236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA
id in db is: 294707
inserted disease: 300676 OMIM #300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14
id in db is: 294708
inserted disease: 606688 OMIM #606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
id in db is: 294709
inserted disease: 616002 OMIM FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7; FSGS7
id in db is: 294710
inserted disease: 178651 OMIM PULMONIC STENOSIS AND DEAFNESS
id in db is: 294711
inserted disease: 251900 OMIM MITOCHONDRIAL MYOPATHY
id in db is: 294712
inserted disease: 155050 OMIM %155050 MAXILLONASAL DYSPLASIA, BINDER TYPE;;BINDER SYNDROME
id in db is: 294713
inserted disease: 79237 ORPHA Galactokinase deficiency
id in db is: 294714
inserted disease: 251290 OMIM #251290 BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA;BLCPMG;;PSEUDO-TORCH SYNDROME
id in db is: 294715
inserted disease: 1071 ORPHA Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
id in db is: 294716
inserted disease: 136880 OMIM FUNDUS ALBIPUNCTATUSRETINITIS PUNCTATA ALBESCENS, INCLUDED
id in db is: 294717
inserted disease: 221500 OMIM DEAFNESS, NEURAL, CONGENITAL MODERATE
id in db is: 294718
inserted disease: 254600 OMIM MYELOPEROXIDASE DEFICIENCY
id in db is: 294719
inserted disease: 300354 OMIM #300354 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC;;CABEZAS SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; MRXS15;;MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, ANDABNORMAL GAIT;;MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE; MRSS
id in db is: 294720
inserted disease: 188470 OMIM THYROID CANCER, NONMEDULLARY, 2; NMTC2
id in db is: 294721
inserted disease: 606664 OMIM GLYCINE N-METHYLTRANSFERASE DEFICIENCY
id in db is: 294722
inserted disease: 600460 OMIM 600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY;;CCGE;;ACROCARDIOFACIAL SYNDROME; ACFS
id in db is: 294723
inserted disease: 600669 OMIM EPILEPSY, IDIOPATHIC GENERALIZED
id in db is: 294724
inserted disease: 93403 ORPHA Syndactyly type 2
id in db is: 294725
inserted disease: 614302 OMIM #614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7
id in db is: 294726
inserted disease: 103780 OMIM ALCOHOL DEPENDENCE
id in db is: 294727
inserted disease: 256300 OMIM #256300 NEPHROTIC SYNDROME, TYPE 1; NPHS1;;FINNISH CONGENITAL NEPHROSIS; CNF;;NEPHROTIC SYNDROME, CONGENITAL
id in db is: 294728
inserted disease: 252900 OMIM MUCOPOLYSACCHARIDOSIS TYPE IIIA
id in db is: 294729
inserted disease: 186770 OMIM T-CELL LEUKEMIA, HOMEOBOX 1
id in db is: 294730
inserted disease: 248190 OMIM #248190 HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5;;HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT;;HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, ANDSEVERE OCULAR INVOLVEMENT;;FHHNC WITH SEVERE OCULAR INVOLVEMENT;;MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
id in db is: 294731
inserted disease: 302650 OMIM CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1
id in db is: 294732
inserted disease: 613485 OMIM #613485 LONG QT SYNDROME 13; LQT13
id in db is: 294733
inserted disease: 181430 OMIM SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM
id in db is: 294734
inserted disease: 613795 OMIM #613795 LOEYS-DIETZ SYNDROME, TYPE 3; LDS3;;ANEURYSMS-OSTEOARTHRITIS SYNDROME;;LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS;;LOEYS-DIETZ SYNDROME, TYPE 1C, FORMERLY; LDS1C, FORMERLY
id in db is: 294735
inserted disease: 613957 OMIM #613957 SPERMATOGENIC FAILURE 8; SPGF8
id in db is: 294736
inserted disease: 610441 OMIM %610441 TESTICULAR MICROLITHIASIS
id in db is: 294737
inserted disease: 2398 ORPHA Multiple symmetric lipomatosis
id in db is: 294738
inserted disease: 151660 OMIM #151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2;;FPL2;;LIPODYSTROPHY, FAMILIAL PARTIAL, DUNNIGAN TYPE;;LIPODYSTROPHY, FAMILIAL, OF LIMBS AND LOWER TRUNK;;LIPODYSTROPHY, REVERSE PARTIAL;;LIPOATROPHIC DIABETES
id in db is: 294739
inserted disease: 128900 OMIM EARLOBE ATTACHMENT: ATTACHED VS UNATTACHED
id in db is: 294740
inserted disease: 300331 OMIM THROMBOCYTOSIS, FAMILIAL X-LINKED
id in db is: 294741
inserted disease: 302960 OMIM #302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2;;CDPXD; CPXD;;CONRADI-HUNERMANN SYNDROME;;HAPPLE SYNDROME;;CONRADI-HUNERMANN-HAPPLE SYNDROME
id in db is: 294742
inserted disease: 1872 ORPHA Cone rod dystrophy
id in db is: 294743
inserted disease: 1021 ORPHA Amaurosis-hypertrichosis syndrome
id in db is: 294744
inserted disease: 132090 OMIM EPILEPSY, BENIGN OCCIPITAL
id in db is: 294745
inserted disease: 153670 OMIM #153670 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
id in db is: 294746
inserted disease: 123270 OMIM 123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE
id in db is: 294747
inserted disease: 612463 OMIM #612463 PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE
id in db is: 294748
inserted disease: 1910 ORPHA Fetal iodine syndrome
id in db is: 294749
inserted disease: 228302 ORPHA Carnitine palmitoyl transferase II deficiency, myopathic form
id in db is: 294750
inserted disease: 601347 OMIM MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,
id in db is: 294751
inserted disease: 234800 OMIM 234800 HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES
id in db is: 294752
inserted disease: 614473 OMIM #614473 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
id in db is: 294753
inserted disease: 100073 ORPHA Neurogenic thoracic outlet syndrome
id in db is: 294754
inserted disease: 212840 OMIM #212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM; CAHH;;GORDON HOLMES SYNDROME;;LUTEINIZING HORMONE-RELEASING HORMONE, DEFICIENCY OF, WITH ATAXIA;;LHRH DEFICIENCY AND ATAXIA
id in db is: 294755
inserted disease: 614921 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T
id in db is: 294756
inserted disease: 276100 OMIM TRYPTOPHANURIA WITH DWARFISM
id in db is: 294757
inserted disease: 93296 ORPHA Achondrogenesis type 2
id in db is: 294758
inserted disease: 164190 OMIM OCULAR DOMINANCE
id in db is: 294759
inserted disease: 601161 OMIM TRISOMY 18-LIKE SYNDROME
id in db is: 294760
inserted disease: 120400 OMIM 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY;;APICAL DYSTROPHY;;SORSBY SYNDROME
id in db is: 294761
inserted disease: 615979 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45
id in db is: 294762
inserted disease: 616324 OMIM MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B
id in db is: 294763
inserted disease: 103300 OMIM HYPOGLOSSIA-HYPODACTYLIA
id in db is: 294764
inserted disease: 379 ORPHA Chronic granulomatous disease
id in db is: 294765
inserted disease: 614496 OMIM PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E
id in db is: 294766
inserted disease: 2505 ORPHA Multiple benign circumferential skin creases on limbs
id in db is: 294767
inserted disease: 520000 OMIM DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED
id in db is: 294768
inserted disease: 2964 ORPHA Autosomal dominant prognathism
id in db is: 294769
inserted disease: 125280 OMIM DENS EVAGINATUS
id in db is: 294770
inserted disease: 130080 OMIM %130080 EHLERS-DANLOS SYNDROME, TYPE VIII;;EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE;;EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE;;EDS VIII;;EDS8
id in db is: 294771
inserted disease: 113900 OMIM #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
id in db is: 294772
inserted disease: 274400 OMIM THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
id in db is: 294773
inserted disease: 173470 OMIM +173470 INTEGRIN, BETA-3; ITGB3;;PLATELET GLYCOPROTEIN IIIa; GP3A;;GP IIIa;;PLATELET FIBRINOGEN RECEPTOR, BETA SUBUNIT;;CD61THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED; NAIT, INCLUDED;;POSTTRANSFUSION PURPURA, INCLUDED; PTP, INCLUDED
id in db is: 294774
inserted disease: 217700 OMIM CORNEAL ENDOTHELIAL DYSTROPHY 2
id in db is: 294775
inserted disease: 614028 OMIM #614028 HYPERALPHALIPOPROTEINEMIA 2; HALP2;;APOLIPOPROTEIN C-III DEFICIENCY
id in db is: 294776
inserted disease: 616657 OMIM #616657 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY;SPATCCM
id in db is: 294777
inserted disease: 602025 OMIM BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9
id in db is: 294778
inserted disease: 201550 OMIM ADDUCTED THUMBS SYNDROME
id in db is: 294779
inserted disease: 1974 ORPHA Autosomal recessive facio-digito-genital syndrome
id in db is: 294780
inserted disease: 133700 OMIM EXOSTOSES, MULTIPLE, TYPE I
id in db is: 294781
inserted disease: 136570 OMIM #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16p12, INCLUDED
id in db is: 294782
inserted disease: 1361 ORPHA Carnosinemia
id in db is: 294783
inserted disease: 142690 OMIM ACNE INVERSA, FAMILIAL
id in db is: 294784
inserted disease: 221810 OMIM 221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE;;KIRGHIZIAN DERMATOOSTEOLYSIS
id in db is: 294785
inserted disease: 74 DECIPHER 15q13.3 microdeletion syndrome
id in db is: 294786
inserted disease: 604321 OMIM #604321 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4
id in db is: 294787
inserted disease: 535000 OMIM #535000 LEBER OPTIC ATROPHY;;LEBER HEREDITARY OPTIC NEUROPATHY; LHON
id in db is: 294788
inserted disease: 166970 OMIM OVARIAN FIBROMATA
id in db is: 294789
inserted disease: 609812 OMIM #609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION;MODY8;;DIABETES AND PANCREATIC EXOCRINE DYSFUNCTION; DPED;;DIABETES-PANCREATIC EXOCRINE DYSFUNCTION SYNDROME
id in db is: 294790
inserted disease: 265120 OMIM SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
id in db is: 294791
inserted disease: 498 ORPHA Keratosis pilaris atrophicans
id in db is: 294792
inserted disease: 118300 OMIM #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;;CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;;CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E
id in db is: 294793
inserted disease: 2058 ORPHA Fryns-Smeets-Thiry syndrome
id in db is: 294794
inserted disease: 261524 ORPHA Paternal uniparental disomy of chromosome X
id in db is: 294795
inserted disease: 1227 ORPHA Bangstad syndrome
id in db is: 294796
inserted disease: 85170 ORPHA Mesomelic dysplasia, Savarirayan type
id in db is: 294797
inserted disease: 2315 ORPHA Johanson-Blizzard syndrome
id in db is: 294798
inserted disease: 133000 OMIM ERYTHEMA PALMARE HEREDITARIUM
id in db is: 294799
inserted disease: 203600 OMIM 203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN;;MOYNAHAN ALOPECIA SYNDROME
id in db is: 294800
inserted disease: 1964 ORPHA Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
id in db is: 294801
inserted disease: 1507 ORPHA Autosomal recessive Robinow syndrome
id in db is: 294802
inserted disease: 2349 ORPHA Muscular pseudohypertrophy-hypothyroidism syndrome
id in db is: 294803
inserted disease: 616158 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31
id in db is: 294804
inserted disease: 2069 ORPHA Gastrocutaneous syndrome
id in db is: 294805
inserted disease: 614266 OMIM #614266 BARRETT ESOPHAGUS;;BARRETT METAPLASIAADENOCARCINOMA OF ESOPHAGUS, INCLUDED
id in db is: 294806
inserted disease: 609135 OMIM #609135 APLASTIC ANEMIA;;APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED
id in db is: 294807
inserted disease: 253260 OMIM BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
id in db is: 294808
inserted disease: 208920 OMIM #208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;EAOH;;ATAXIA-OCULOMOTOR APRAXIA SYNDROME; AOA;;ATAXIA-OCULOMOTOR APRAXIA 1; AOA1;;ATAXIA-TELANGIECTASIA-LIKE SYNDROME;;CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA; EOCA-HAATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED
id in db is: 294809
inserted disease: 616589 OMIM ADAMS-OLIVER SYNDROME 6; AOS6
id in db is: 294810
inserted disease: 258500 OMIM %258500 OPTIC ATROPHY 6; OPA6;;OPTIC ATROPHY, CONGENITAL OR EARLY INFANTILE, AUTOSOMAL RECESSIVE
id in db is: 294811
inserted disease: 47612 ORPHA Felty syndrome
id in db is: 294812
inserted disease: 157600 OMIM #157600 MIRROR MOVEMENTS 1; MRMV1;;MIRROR MOVEMENTS, CONGENITAL;;BIMANUAL SYNERGIA
id in db is: 294813
inserted disease: 615157 OMIM MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2
id in db is: 294814
inserted disease: 601420 OMIM MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE
id in db is: 294815
inserted disease: 608244 OMIM OTOSCLEROSIS 3; OTSC3
id in db is: 294816
inserted disease: 137215 OMIM #137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;;GASTRIC CANCER, FAMILIAL DIFFUSEGASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFTPALATE, INCLUDED
id in db is: 294817
inserted disease: 147770 OMIM %147770 JOHNSON NEUROECTODERMAL SYNDROME;;JOHNSON-MCMILLIN SYNDROME; JMS;;ALOPECIA-ANOSMIA-DEAFNESS-HYPOGONADISM SYNDROME;;AADH SYNDROME
id in db is: 294818
inserted disease: 266130 OMIM GLUTATHIONE SYNTHETASE DEFICIENCY
id in db is: 294819
inserted disease: 608638 OMIM ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1
id in db is: 294820
inserted disease: 226350 OMIM EOSINOPHILIC FASCIITIS
id in db is: 294821
inserted disease: 300261 OMIM %300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; MRXSA;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARMFIELD TYPE
id in db is: 294822
inserted disease: 616509 OMIM CATARACT 44; CTRCT44
id in db is: 294823
inserted disease: 33577 ORPHA Nodular non-suppurative panniculitis
id in db is: 294824
inserted disease: 304500 OMIM DEAFNESS, X-LINKED 1
id in db is: 294825
inserted disease: 171851 ORPHA MEDNIK syndrome
id in db is: 294826
inserted disease: 607674 OMIM CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY
id in db is: 294827
inserted disease: 613265 OMIM WAARDENBURG SYNDROME, TYPE 4B; WS4B
id in db is: 294828
inserted disease: 184510 OMIM STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH
id in db is: 294829
inserted disease: 2492 ORPHA Limb transversal defect-cardiac anomaly syndrome
id in db is: 294830
inserted disease: 2909 ORPHA Rothmund-Thomson syndrome
id in db is: 294831
inserted disease: 613763 OMIM #613763 CATARACT, POSTERIOR POLAR, 2; CTPP2CATARACT, CONGENITAL LAMELLAR, INCLUDED;;CATARACT, JUVENILE, AUTOSOMAL RECESSIVE, INCLUDED
id in db is: 294832
inserted disease: 79095 ORPHA Congenital bile acid synthesis defect type 4
id in db is: 294833
inserted disease: 102700 OMIM SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
id in db is: 294834
inserted disease: 604356 OMIM #604356 DUANE RETRACTION SYNDROME 2; DURS2
id in db is: 294835
inserted disease: 609566 OMIM PARIETAL FORAMINA 3; PFM3
id in db is: 294836
inserted disease: 614691 OMIM #614691 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5; CATC5
id in db is: 294837
inserted disease: 660 ORPHA Omphalocele
id in db is: 294838
inserted disease: 230400 OMIM GALACTOSEMIA
id in db is: 294839
inserted disease: 608565 OMIM #608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
id in db is: 294840
inserted disease: 614156 OMIM #614156 HYPERBILIVERDINEMIA; HBLVD;;GREEN JAUNDICE
id in db is: 294841
inserted disease: 249240 OMIM MEGALENCEPHALY WITH DYSMYELINATION
id in db is: 294842
inserted disease: 1336 ORPHA Hyperkeratosis-hyperpigmentation syndrome
id in db is: 294843
inserted disease: 145270 OMIM HYPERPROGLUCAGONEMIA
id in db is: 294844
inserted disease: 142340 OMIM DIAPHRAGMATIC HERNIA, CONGENITAL
id in db is: 294845
inserted disease: 300582 OMIM #300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
id in db is: 294846
inserted disease: 300047 OMIM MENTAL RETARDATION, X-LINKED 20
id in db is: 294847
inserted disease: 615508 OMIM #615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS,AND HYPER-IGE; EPKHE;;SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;;SAM SYNDROME
id in db is: 294848
inserted disease: 616152 OMIM #616152 MACULAR DYSTROPHY, VITELLIFORM, 5; VMD5
id in db is: 294849
inserted disease: 86818 ORPHA Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
id in db is: 294850
inserted disease: 272650 OMIM TATSUMI FACTOR DEFICIENCY
id in db is: 294851
inserted disease: 115430 OMIM CARPAL TUNNEL SYNDROME
id in db is: 294852
inserted disease: 2663 ORPHA Nathalie syndrome
id in db is: 294853
inserted disease: 235830 OMIM %235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT
id in db is: 294854
inserted disease: 133190 OMIM SPINOCEREBELLAR ATAXIA 34; SCA34
id in db is: 294855
inserted disease: 232900 OMIM GLYCOPROTEIN STORAGE DISEASE
id in db is: 294856
inserted disease: 609560 OMIM #609560 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2;;MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED
id in db is: 294857
inserted disease: 614507 OMIM #614507 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R
id in db is: 294858
inserted disease: 613155 OMIM #613155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1; MDDGB1;;MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
id in db is: 294859
inserted disease: 611263 OMIM ASPHYXIATING THORACIC DYSTROPHY 2; ATD2
id in db is: 294860
inserted disease: 155100 OMIM #155100 MAY-HEGGLIN ANOMALY; MHA;;BLEEDING DISORDER, PLATELET-TYPE, 6; BDPLT6;;DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS;;MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS
id in db is: 294861
inserted disease: 2868 ORPHA Short stature-valvular heart disease-characteristic facies syndrome
id in db is: 294862
inserted disease: 157846 ORPHA Neuroferritinopathy
id in db is: 294863
inserted disease: 201180 OMIM ACROFRONTOFACIONASAL DYSOSTOSIS 1
id in db is: 294864
inserted disease: 128300 OMIM EAR EXOSTOSES
id in db is: 294865
inserted disease: 2772 ORPHA Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
id in db is: 294866
inserted disease: 167730 OMIM %167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME;;NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME
id in db is: 294867
inserted disease: 242670 OMIM CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES
id in db is: 294868
inserted disease: 615502 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21
id in db is: 294869
inserted disease: 181440 OMIM SCHEUERMANN DISEASE
id in db is: 294870
inserted disease: 241100 OMIM HYPOGONADISM, MALEHYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED
id in db is: 294871
inserted disease: 626 ORPHA Large congenital melanocytic nevus
id in db is: 294872
inserted disease: 615084 OMIM MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11
id in db is: 294873
inserted disease: 209600 OMIM ATRIOVENTRICULAR DISSOCIATION
id in db is: 294874
inserted disease: 614874 OMIM #614874 CILIARY DYSKINESIA, PRIMARY, 18; CILD18;;CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS
id in db is: 294875
inserted disease: 251505 OMIM MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4
id in db is: 294876
inserted disease: 256000 OMIM #256000 LEIGH SYNDROME; LS;;NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNELEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED
id in db is: 294877
inserted disease: 96125 ORPHA Distal monosomy 6p
id in db is: 294878
inserted disease: 228960 OMIM FLAUJEAC FACTOR DEFICIENCY
id in db is: 294879
inserted disease: 3082 ORPHA Intellectual disability-polydactyly-uncombable hair syndrome
id in db is: 294880
inserted disease: 2287 ORPHA Fused mandibular incisors
id in db is: 294881
inserted disease: 93284 ORPHA Spondyloepiphyseal dysplasia tarda
id in db is: 294882
inserted disease: 3219 ORPHA Fountain syndrome
id in db is: 294883
inserted disease: 612551 OMIM #612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4;;END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED
id in db is: 294884
inserted disease: 314300 OMIM TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA
id in db is: 294885
inserted disease: 613610 OMIM #613610 CRANIOECTODERMAL DYSPLASIA 2; CED2
id in db is: 294886
inserted disease: 261330 ORPHA Distal 22q11.2 microdeletion syndrome
id in db is: 294887
inserted disease: 216330 OMIM CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM
id in db is: 294888
inserted disease: 610158 OMIM %610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2;;FCD1 LOCUS;;CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
id in db is: 294889
inserted disease: 613192 OMIM #613192 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
id in db is: 294890
inserted disease: 239000 OMIM #239000 PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5;;JUVENILE PAGET DISEASE; JPD;;HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS;;HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC;;HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC;;OSTEOECTASIA, FAMILIAL
id in db is: 294891
inserted disease: 79328 ORPHA ALG9-CDG
id in db is: 294892
inserted disease: 210550 OMIM BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY
id in db is: 294893
inserted disease: 252500 OMIM #252500 MUCOLIPIDOSIS II ALPHA/BETA;;MUCOLIPIDOSIS II; ML II;;ML II ALPHA/BETA;;I-CELL DISEASE; ICD
id in db is: 294894
inserted disease: 616503 OMIM LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9
id in db is: 294895
inserted disease: 601536 OMIM #601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS;;NAVAJO BRAINSTEM SYNDROMEBOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED; BSAS, INCLUDED
id in db is: 294896
inserted disease: 1131 ORPHA X-linked mandibulofacial dysostosis
id in db is: 294897
inserted disease: 600850 OMIM SCHIZOPHRENIA 4
id in db is: 294898
inserted disease: 248450 OMIM MANITOBA OCULOTRICHOANAL SYNDROME
id in db is: 294899
inserted disease: 75378 ORPHA Oligocone trichromacy
id in db is: 294900
inserted disease: 179700 OMIM RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS
id in db is: 294901
inserted disease: 615444 OMIM CILIARY DYSKINESIA, PRIMARY, 22; CILD22
id in db is: 294902
inserted disease: 141 ORPHA Canavan disease
id in db is: 294903
inserted disease: 113400 OMIM BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA
id in db is: 294904
inserted disease: 607631 OMIM EPILEPSY, JUVENILE ABSENCE
id in db is: 294905
inserted disease: 735 ORPHA Porokeratosis of Mibelli
id in db is: 294906
inserted disease: 300719 OMIM %300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES
id in db is: 294907
inserted disease: 245349 OMIM PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
id in db is: 294908
inserted disease: 600138 OMIM RETINITIS PIGMENTOSA 11; RP11
id in db is: 294909
inserted disease: 26790 ORPHA Pseudomyxoma peritonei
id in db is: 294910
inserted disease: 607426 OMIM #607426 COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1;;CoQ10 DEFICIENCY, PRIMARY, 1;;UBIQUINONE DEFICIENCY 1;;COENZYME Q DEFICIENCY 1;;CoQ DEFICIENCY 1
id in db is: 294911
inserted disease: 67046 ORPHA 3-methylglutaconic aciduria type 1
id in db is: 294912
inserted disease: 258470 OMIM OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA
id in db is: 294913
inserted disease: 217090 OMIM PLASMINOGEN DEFICIENCY, TYPE ILIGNEOUS CONJUNCTIVITIS, INCLUDED
id in db is: 294914
inserted disease: 616445 OMIM CANDIDIASIS, FAMILIAL, 9; CANDF9
id in db is: 294915
inserted disease: 219150 OMIM #219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A;;DE BARSY SYNDROME A;;CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION;;PROGEROID SYNDROME OF DE BARSY
id in db is: 294916
inserted disease: 613769 OMIM #613769 RETINITIS PIGMENTOSA 44; RP44
id in db is: 294917
inserted disease: 211120 OMIM 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE
id in db is: 294918
inserted disease: 2445 ORPHA Conotruncal heart malformations
id in db is: 294919
inserted disease: 2725 ORPHA Eye defects-arachnodactyly-cardiopathy syndrome
id in db is: 294920
inserted disease: 91546 ORPHA Lyme disease
id in db is: 294921
inserted disease: 231736 ORPHA Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
id in db is: 294922
inserted disease: 3287 ORPHA Takayasu arteritis
id in db is: 294923
inserted disease: 223200 OMIM %223200 DISORGANIZATION, MOUSE, HOMOLOG OF;;DS
id in db is: 294924
inserted disease: 137750 OMIM GLAUCOMA 1, OPEN ANGLE, A
id in db is: 294925
inserted disease: 135500 OMIM #135500 ZIMMERMANN-LABAND SYNDROME 1; ZLS1;;LABAND SYNDROME;;FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE,AND EARS, AND SPLENOMEGALY
id in db is: 294926
inserted disease: 201100 OMIM ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
id in db is: 294927
inserted disease: 614089 OMIM #614089 ATRIAL SEPTAL DEFECT 3; ASD3
id in db is: 294928
inserted disease: 265450 OMIM #265450 PULMONARY VENOOCCLUSIVE DISEASE; PVOD
id in db is: 294929
inserted disease: 614083 OMIM FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL
id in db is: 294930
inserted disease: 613873 OMIM #613873 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17
id in db is: 294931
inserted disease: 615829 OMIM XIA-GIBBS SYNDROME
id in db is: 294932
inserted disease: 161950 OMIM %161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1;;IGAN;;NEPHRITIS, IgA TYPE;;BERGER DISEASE
id in db is: 294933
inserted disease: 614932 OMIM #614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
id in db is: 294934
inserted disease: 181800 OMIM SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1
id in db is: 294935
inserted disease: 251120 OMIM #251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY;;METHYLMALONYL-CoA RACEMASE DEFICIENCY;;METHYLMALONIC ACIDURIA III, FORMERLYMETHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASEDEFICIENCY, INCLUDED
id in db is: 294936
inserted disease: 609529 OMIM #609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2;;IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OF, TACI-RELATED;;IgA, SELECTIVE DEFICIENCY OF, TACI-RELATED
id in db is: 294937
inserted disease: 609887 OMIM #609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G
id in db is: 294938
inserted disease: 263200 OMIM POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
id in db is: 294939
inserted disease: 115650 OMIM CATARACT, ANTERIOR POLAR, 1
id in db is: 294940
inserted disease: 601170 OMIM 601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS
id in db is: 294941
inserted disease: 614822 OMIM #614822 SPERMATOGENIC FAILURE 10; SPGF10;;SPERMATOGENIC FAILURE WITH DEFECTIVE SPERM ANNULUS
id in db is: 294942
inserted disease: 608180 OMIM SYNPOLYDACTYLY 2
id in db is: 294943
inserted disease: 2022 ORPHA Endomyocardial fibroelastosis
id in db is: 294944
inserted disease: 107 ORPHA BOR syndrome
id in db is: 294945
inserted disease: 173700 OMIM 173700 POIKILODERMA, HEREDITARY SCLEROSING
id in db is: 294946
inserted disease: 612001 OMIM CHROMOSOME 15q13.3 MICRODELETION SYNDROME
id in db is: 294947
inserted disease: 187770 OMIM THORACOPELVIC DYSOSTOSIS
id in db is: 294948
inserted disease: 3416 ORPHA Hyperostosis corticalis generalisata
id in db is: 294949
inserted disease: 79320 ORPHA ALG6-CDG
id in db is: 294950
inserted disease: 604292 OMIM ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3
id in db is: 294951
inserted disease: 95501 ORPHA Congenital central diabetes insipidus
id in db is: 294952
inserted disease: 227250 OMIM 227250 FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION
id in db is: 294953
inserted disease: 93359 ORPHA Spondyloepimetaphyseal dysplasia with joint laxity
id in db is: 294954
inserted disease: 608800 OMIM SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
id in db is: 294955
inserted disease: 255980 OMIM %255980 NASODIGITOACOUSTIC SYNDROME;;KEIPERT SYNDROME
id in db is: 294956
inserted disease: 615985 OMIM BARDET-BIEDL SYNDROME 8; BBS8
id in db is: 294957
inserted disease: 206200 OMIM IRON-REFRACTORY IRON DEFICIENCY ANEMIA
id in db is: 294958
inserted disease: 251230 OMIM %251230 MICROCEPHALY-MICROMELIA SYNDROME
id in db is: 294959
inserted disease: 614324 OMIM #614324 OVARIAN DYSGENESIS 3; ODG3
id in db is: 294960
inserted disease: 3424 ORPHA Velo-facial-skeletal syndrome
id in db is: 294961
inserted disease: 250 ORPHA Frontonasal dysplasia
id in db is: 294962
inserted disease: 105300 OMIM AMYOTROPHIC DYSTONIC PARAPLEGIA
id in db is: 294963
inserted disease: 216800 OMIM COLOBOMA OF MACULA AND SKELETAL ANOMALIES
id in db is: 294964
inserted disease: 609428 OMIM TUKEL SYNDROME
id in db is: 294965
inserted disease: 1 DECIPHER Wolf-Hirschhorn Syndrome
id in db is: 294966
inserted disease: 274600 OMIM PENDRED SYNDROME
id in db is: 294967
inserted disease: 613662 OMIM #613662 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B;;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED;;MNGIE, POLG-RELATED
id in db is: 294968
inserted disease: 115900 OMIM #115900 CATARACT 42; CTRCT42
id in db is: 294969
inserted disease: 613827 OMIM #613827 RETINITIS PIGMENTOSA 48; RP48
id in db is: 294970
inserted disease: 614947 OMIM #614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15
id in db is: 294971
inserted disease: 256550 OMIM NEURAMINIDASE DEFICIENCY
id in db is: 294972
inserted disease: 300123 OMIM #300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMMENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,INCLUDED; MRGH, INCLUDED
id in db is: 294973
inserted disease: 614018 OMIM #614018 EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6
id in db is: 294974
inserted disease: 177170 OMIM #177170 PSEUDOACHONDROPLASIA; PSACH;;PSEUDOACHONDROPLASTIC DYSPLASIA;;SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
id in db is: 294975
inserted disease: 183802 OMIM 183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATICDEFECTS
id in db is: 294976
inserted disease: 303600 OMIM COFFIN-LOWRY SYNDROME; CLS
id in db is: 294977
inserted disease: 429 ORPHA Hypochondroplasia
id in db is: 294978
inserted disease: 79396 ORPHA Epidermolysis bullosa simplex, Dowling-Meara type
id in db is: 294979
inserted disease: 605779 OMIM NAIL DYSPLASIA, ISOLATED CONGENITAL
id in db is: 294980
inserted disease: 615160 OMIM #615160 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5
id in db is: 294981
inserted disease: 247100 OMIM #247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE;;LIPOID PROTEINOSIS;;URBACH-WIETHE DISEASE;;HYALINOSIS CUTIS ET MUCOSAE
id in db is: 294982
inserted disease: 97330 ORPHA Thoracic outlet syndrome
id in db is: 294983
inserted disease: 144400 OMIM HYPERLIPOPROTEINEMIA, TYPE II
id in db is: 294984
inserted disease: 146200 OMIM HYPOPARATHYROIDISM, FAMILIAL ISOLATED
id in db is: 294985
inserted disease: 275250 OMIM TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF
id in db is: 294986
inserted disease: 604802 OMIM %604802 HUNTINGTON DISEASE-LIKE 3; HDL3;;HUNTINGTON DISEASE-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL RECESSIVE
id in db is: 294987
inserted disease: 33276 ORPHA Kaposi sarcoma
id in db is: 294988
inserted disease: 2930 ORPHA Cronkhite-Canada syndrome
id in db is: 294989
inserted disease: 163200 OMIM SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
id in db is: 294990
inserted disease: 673 ORPHA Malaria
id in db is: 294991
inserted disease: 1069 ORPHA Aniridia-absent patella syndrome
id in db is: 294992
inserted disease: 168555 ORPHA Spondylometaphyseal dysplasia, A4 type
id in db is: 294993
inserted disease: 101076 ORPHA X-linked Charcot-Marie-Tooth disease type 2
id in db is: 294994
inserted disease: 610738 OMIM NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3
id in db is: 294995
inserted disease: 610842 OMIM #610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTORDEFICIENCY;;PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
id in db is: 294996
inserted disease: 122850 OMIM CRANIOACROFACIAL SYNDROME
id in db is: 294997
inserted disease: 1240 ORPHA Metaphyseal acroscyphodysplasia
id in db is: 294998
inserted disease: 168300 OMIM #168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC;;PARALYSIS PERIODICA PARAMYOTONICAPARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED
id in db is: 294999
inserted disease: 200970 OMIM ACKERMAN SYNDROME
id in db is: 295000
inserted disease: 185300 OMIM STURGE-WEBER SYNDROME
id in db is: 295001
inserted disease: 94058 ORPHA Neovascular glaucoma
id in db is: 295002
inserted disease: 257600 OMIM %257600 OCULAR MYOPATHY WITH CURARE SENSITIVITY
id in db is: 295003
inserted disease: 324723 ORPHA ABeta amyloidosis, Arctic type
id in db is: 295004
inserted disease: 108120 OMIM ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A
id in db is: 295005
inserted disease: 613983 OMIM #613983 RETINITIS PIGMENTOSA 60; RP60
id in db is: 295006
inserted disease: 258 ORPHA Congenital muscular dystrophy type 1A
id in db is: 295007
inserted disease: 183 ORPHA Eosinophilic granulomatosis with polyangiitis
id in db is: 295008
inserted disease: 600740 OMIM HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
id in db is: 295009
inserted disease: 90307 ORPHA Parkes Weber syndrome
id in db is: 295010
inserted disease: 300554 OMIM HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
id in db is: 295011
inserted disease: 600459 OMIM 600459 ARTERIAL DISSECTION WITH LENTIGINOSIS
id in db is: 295012
inserted disease: 614501 OMIM PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED
id in db is: 295013
inserted disease: 208700 OMIM ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA
id in db is: 295014
inserted disease: 309585 OMIM #309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 6; MRXS6;;MENTAL RETARDATION, X-LINKED, WITH GYNECOMASTIA AND OBESITY
id in db is: 295015
inserted disease: 615481 OMIM CILIARY DYSKINESIA, PRIMARY, 24; CILD24
id in db is: 295016
inserted disease: 608278 OMIM 608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY
id in db is: 295017
inserted disease: 609273 OMIM #609273 NEMALINE MYOPATHY 6; NEM6
id in db is: 295018
inserted disease: 886 ORPHA Usher syndrome
id in db is: 295019
inserted disease: 226735 OMIM EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA
id in db is: 295020
inserted disease: 54 ORPHA X-linked recessive ocular albinism
id in db is: 295021
inserted disease: 906 ORPHA Wiskott-Aldrich syndrome
id in db is: 295022
inserted disease: 600679 OMIM 600679 DERMOID CYSTS, FAMILIAL FRONTONASAL
id in db is: 295023
inserted disease: 613506 OMIM #613506 AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5;;AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT
id in db is: 295024
inserted disease: 601829 OMIM 601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE
id in db is: 295025
inserted disease: 605818 OMIM %605818 DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27
id in db is: 295026
inserted disease: 615377 OMIM ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13
id in db is: 295027
inserted disease: 600884 OMIM CARDIOMYOPATHY, DILATED, 1B
id in db is: 295028
inserted disease: 314918 ORPHA Mild Canavan disease
id in db is: 295029
inserted disease: 139000 OMIM GRANULOSIS RUBRA NASI
id in db is: 295030
inserted disease: 3206 ORPHA Stüve-Wiedemann syndrome
id in db is: 295031
inserted disease: 300472 OMIM CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,AND MICROGNATHIA
id in db is: 295032
inserted disease: 260130 OMIM 260130 PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE
id in db is: 295033
inserted disease: 615582 OMIM #615582 LOEYS-DIETZ SYNDROME 5; LDS5;;RIENHOFF SYNDROME; RNHF
id in db is: 295034
inserted disease: 225000 OMIM %225000 ROSSELLI-GULIENETTI SYNDROME
id in db is: 295035
inserted disease: 179780 OMIM DIPEPTIDASE 1
id in db is: 295036
inserted disease: 99880 ORPHA Hyperparathyroidism-jaw tumor syndrome
id in db is: 295037
inserted disease: 431329 ORPHA Autosomal recessive spastic paraplegia type 57
id in db is: 295038
inserted disease: 95699 ORPHA Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
id in db is: 295039
inserted disease: 85287 ORPHA X-linked intellectual disability, Siderius type
id in db is: 295040
inserted disease: 668 ORPHA Osteosarcoma
id in db is: 295041
inserted disease: 603034 OMIM #603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD;;ENGEL CONGENITAL MYASTHENIC SYNDROME;;MYASTHENIC SYNDROME, CONGENITAL, ENGEL TYPE;;CONGENITAL MYASTHENIC SYNDROME TYPE Ic; CMS1C;;CMS Ic
id in db is: 295042
inserted disease: 268050 OMIM 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION;;MIRHOSSEINI-HOLMES-WALTON SYNDROME
id in db is: 295043
inserted disease: 616604 OMIM CHROMOSOME 14q32 DUPLICATION SYNDROME, 700-KB
id in db is: 295044
inserted disease: 151600 OMIM #151600 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3;;LEUKONYCHIA TOTALIS AND/OR PARTIALIS;;PORCELAIN NAILSLEUKONYCHIA STRIATUS, INCLUDED;;LEUKONYCHIA PUNCTATA, INCLUDED
id in db is: 295045
inserted disease: 269200 OMIM AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2
id in db is: 295046
inserted disease: 225700 OMIM ENCEPHALOMALACIA, MULTILOCULAR
id in db is: 295047
inserted disease: 113620 OMIM #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
id in db is: 295048
inserted disease: 602085 OMIM POLYDACTYLY, POSTAXIAL, TYPE A2
id in db is: 295049
inserted disease: 215518 OMIM CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION
id in db is: 295050
inserted disease: 606960 OMIM %606960 INSULINOMA TUMOR SUPPRESSOR GENE LOCUS
id in db is: 295051
inserted disease: 131750 OMIM #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
id in db is: 295052
inserted disease: 612716 OMIM #612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY;;SEPIAPTERIN REDUCTASE DEFICIENCY;;SPR DEFICIENCY
id in db is: 295053
inserted disease: 3253 ORPHA Zlotogora-Ogur syndrome
id in db is: 295054
inserted disease: 613735 OMIM CHROMOSOME 1p32-p31 DELETION SYNDROME
id in db is: 295055
inserted disease: 267480 OMIM 267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA
id in db is: 295056
inserted disease: 606798 OMIM BLEPHAROSPASM, BENIGN ESSENTIAL
id in db is: 295057
inserted disease: 401945 ORPHA Moyamoya disease with early-onset achalasia
id in db is: 295058
inserted disease: 616051 OMIM MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13
id in db is: 295059
inserted disease: 615841 OMIM SPERMATOGENIC FAILURE 13; SPGF13
id in db is: 295060
inserted disease: 613375 OMIM #613375 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11
id in db is: 295061
inserted disease: 1261 ORPHA Bonnemann-Meinecke-Reich syndrome
id in db is: 295062
inserted disease: 261590 OMIM PHENFORMIN 4-HYDROXYLATION
id in db is: 295063
inserted disease: 601353 OMIM BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION
id in db is: 295064
inserted disease: 610915 OMIM #610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8;;OI, TYPE VIII
id in db is: 295065
inserted disease: 106280 OMIM ANKYLOGLOSSIA
id in db is: 295066
inserted disease: 149500 OMIM KYRLE DISEASE
id in db is: 295067
inserted disease: 3006 ORPHA Pyridoxine-dependent epilepsy
id in db is: 295068
inserted disease: 270150 OMIM %270150 SJOGREN SYNDROME;;SICCA SYNDROME
id in db is: 295069
inserted disease: 611953 OMIM #611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
id in db is: 295070
inserted disease: 270425 OMIM SODIUM-POTASSIUM-ATPASE ACTIVITY OF RED CELL
id in db is: 295071
inserted disease: 110800 OMIM BLOOD GROUP--I SYSTEM; Ii
id in db is: 295072
inserted disease: 163703 ORPHA Febrile infection-related epilepsy syndrome
id in db is: 295073
inserted disease: 247800 OMIM %247800 LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNEHEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS
id in db is: 295074
inserted disease: 132900 OMIM #132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4;;FAA4;;AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS
id in db is: 295075
inserted disease: 2370 ORPHA Larsen-like osseous dysplasia-short stature syndrome
id in db is: 295076
inserted disease: 616268 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32
id in db is: 295077
inserted disease: 839 ORPHA Congenital nephrotic syndrome, Finnish type
id in db is: 295078
inserted disease: 614602 OMIM #614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2
id in db is: 295079
inserted disease: 607665 OMIM TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU
id in db is: 295080
inserted disease: 614370 OMIM #614370 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5;;PULMONARY ALVEOLAR PROTEINOSIS 5;;PAP DUE TO CSF2RB DEFICIENCY;;CSF2RB DEFICIENCY
id in db is: 295081
inserted disease: 611694 OMIM %611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA
id in db is: 295082
inserted disease: 107550 OMIM 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA
id in db is: 295083
inserted disease: 100200 OMIM ABDUCENS PALSY
id in db is: 295084
inserted disease: 108700 OMIM ATAXIA WITH FASCICULATIONS
id in db is: 295085
inserted disease: 606712 OMIM SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2
id in db is: 295086
inserted disease: 354 ORPHA GM1 gangliosidosis
id in db is: 295087
inserted disease: 247990 OMIM MACDERMOT-WINTER SYNDROME
id in db is: 295088
inserted disease: 616732 OMIM #616732 OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES;OPA10
id in db is: 295089
inserted disease: 3035 ORPHA Growth delay-hydrocephaly-lung hypoplasia syndrome
id in db is: 295090
inserted disease: 99000 ORPHA Adult-onset foveomacular vitelliform dystrophy
id in db is: 295091
inserted disease: 127400 OMIM DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
id in db is: 295092
inserted disease: 251450 OMIM #251450 DESBUQUOIS DYSPLASIA 1; DBQD1;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED
id in db is: 295093
inserted disease: 604772 OMIM #604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH ORWITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1;;VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP
id in db is: 295094
inserted disease: 275595 OMIM 275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIESOF THE HANDS AND FEET
id in db is: 295095
inserted disease: 46532 ORPHA Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
id in db is: 295096
inserted disease: 90793 ORPHA Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
id in db is: 295097
inserted disease: 612917 OMIM 612917 GIACHETI SYNDROME;;MARFANOID HABITUS AND SPECIFIC LANGUAGE AND LEARNING DISABILITIES
id in db is: 295098
inserted disease: 615022 OMIM ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7; ARCI7
id in db is: 295099
inserted disease: 63275 ORPHA Pemphigoid gestationis
id in db is: 295100
inserted disease: 613026 OMIM #613026 CHROMOSOME 19q13.11 DELETION SYNDROME
id in db is: 295101
inserted disease: 3115 ORPHA Roussy-Lévy syndrome
id in db is: 295102
inserted disease: 259730 OMIM OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
id in db is: 295103
inserted disease: 266255 OMIM RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATIONAND HYPOTONIA
id in db is: 295104
inserted disease: 615426 OMIM AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20
id in db is: 295105
inserted disease: 183350 OMIM SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS
id in db is: 295106
inserted disease: 612964 OMIM #612964 PREMATURE OVARIAN FAILURE 7; POF7
id in db is: 295107
inserted disease: 613955 OMIM #613955 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2; PLCA2
id in db is: 295108
inserted disease: 266265 OMIM #266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C;;CDG IIc; CDGIIc;;LEUKOCYTE ADHESION DEFICIENCY, TYPE II; LAD2;;RAMBAM-HASHARON SYNDROME; RHS
id in db is: 295109
inserted disease: 1972 ORPHA Lethal faciocardiomelic dysplasia
id in db is: 295110
inserted disease: 3429 ORPHA Verloove Vanhorick-Brubakk syndrome
id in db is: 295111
inserted disease: 160570 OMIM MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS
id in db is: 295112
inserted disease: 129540 OMIM 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET
id in db is: 295113
inserted disease: 273800 OMIM #273800 GLANZMANN THROMBASTHENIA; GT;;BLEEDING DISORDER, PLATELET-TYPE, 2; BDPLT2;;THROMBASTHENIA OF GLANZMANN AND NAEGELI;;PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY;;GP IIb-IIIa COMPLEX, DEFICIENCY OF;;PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF;;GLYCOPROTEIN COMPLEX IIb-IIIa, DEFICIENCY OF
id in db is: 295114
inserted disease: 614856 OMIM #614856 OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13;;OI, TYPE XIII
id in db is: 295115
inserted disease: 96263 ORPHA 48,XXXY syndrome
id in db is: 295116
inserted disease: 309120 OMIM SPERMATOGENIC FAILURE, X-LINKED, 2; SPGFX2
id in db is: 295117
inserted disease: 185750 OMIM 185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET
id in db is: 295118
inserted disease: 79087 ORPHA Partial acquired lipodystrophy
id in db is: 295119
inserted disease: 212350 OMIM #212350 SENGERS SYNDROME;;MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE); MTDPS10;;CARDIOMYOPATHY AND CATARACT
id in db is: 295120
inserted disease: 300857 OMIM AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS15
id in db is: 295121
inserted disease: 607482 OMIM #607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M
id in db is: 295122
inserted disease: 612954 OMIM #612954 MYOPATHY, MYOFIBRILLAR, 6; MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED
id in db is: 295123
inserted disease: 300851 OMIM #300851 MENTAL RETARDATION, X-LINKED 92; MRX92
id in db is: 295124
inserted disease: 602152 OMIM RHYNS SYNDROME
id in db is: 295125
inserted disease: 616033 OMIM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM; MSSGM
id in db is: 295126
inserted disease: 172900 OMIM PIGMENTED PURPURIC ERUPTION
id in db is: 295127
inserted disease: 95159 ORPHA Hepatoerythropoietic porphyria
id in db is: 295128
inserted disease: 616411 OMIM DYSTONIA 27; DYT27
id in db is: 295129
inserted disease: 138900 OMIM URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
id in db is: 295130
inserted disease: 91349 ORPHA Non-functioning pituitary adenoma
id in db is: 295131
inserted disease: 217600 OMIM CORNEAL DYSTROPHY, CENTRAL TYPE
id in db is: 295132
inserted disease: 610968 OMIM OSTEOGENESIS IMPERFECTA, TYPE XI; OI11
id in db is: 295133
inserted disease: 873 ORPHA Desmoid tumor
id in db is: 295134
inserted disease: 147100 OMIM IGG HEAVY CHAIN LOCUS
id in db is: 295135
inserted disease: 600166 OMIM HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA
id in db is: 295136
inserted disease: 116700 OMIM 116700 CATARACT, TOTAL CONGENITAL; CC
id in db is: 295137
inserted disease: 3463 ORPHA Wolfram syndrome
id in db is: 295138
inserted disease: 245160 OMIM 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS;;BURTON SYNDROME
id in db is: 295139
inserted disease: 616531 OMIM #616531 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS;PMGYCHA
id in db is: 295140
inserted disease: 154 ORPHA Familial isolated dilated cardiomyopathy
id in db is: 295141
inserted disease: 95719 ORPHA Thyroid hemiagenesis
id in db is: 295142
inserted disease: 137050 OMIM GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF
id in db is: 295143
inserted disease: 613855 OMIM #613855 EPISODIC ATAXIA, TYPE 5; EA5
id in db is: 295144
inserted disease: 211 ORPHA Familial cylindromatosis
id in db is: 295145
inserted disease: 249710 OMIM MESOMELIC LIMB SHORTENING AND BOWING
id in db is: 295146
inserted disease: 610100 OMIM GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT
id in db is: 295147
inserted disease: 228277 ORPHA Familial anetoderma
id in db is: 295148
inserted disease: 600193 OMIM WAARDENBURG SYNDROME, TYPE IIB
id in db is: 295149
inserted disease: 228305 ORPHA Carnitine palmitoyl transferase II deficiency, severe infantile form
id in db is: 295150
inserted disease: 525 ORPHA Lichen planopilaris
id in db is: 295151
inserted disease: 607488 OMIM DYSTONIA 15, MYOCLONIC; DYT15
id in db is: 295152
inserted disease: 152950 OMIM #152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS
id in db is: 295153
inserted disease: 601518 OMIM #601518 PROSTATE CANCER, HEREDITARY, 1; HPC1;;PRCA1
id in db is: 295154
inserted disease: 52047 ORPHA Braddock syndrome
id in db is: 295155
inserted disease: 612643 OMIM #612643 DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B
id in db is: 295156
inserted disease: 156550 OMIM #156550 KNIEST DYSPLASIA
id in db is: 295157
inserted disease: 614037 OMIM 614037 LEUKOTRIENE C4 SYNTHASE DEFICIENCY;;LTC4 SYNTHASE DEFICIENCY
id in db is: 295158
inserted disease: 96092 ORPHA 8p inverted duplication/deletion syndrome
id in db is: 295159
inserted disease: 114300 OMIM ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3
id in db is: 295160
inserted disease: 147421 OMIM INCLUSION BODY MYOSITIS
id in db is: 295161
inserted disease: 241519 OMIM 241519 HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS
id in db is: 295162
inserted disease: 614415 OMIM #614415 CHILBLAIN LUPUS 2; CHBL2
id in db is: 295163
inserted disease: 615924 OMIM ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD
id in db is: 295164
inserted disease: 85274 ORPHA Syndromic X-linked intellectual disability 7
id in db is: 295165
inserted disease: 600156 OMIM %600156 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5
id in db is: 295166
inserted disease: 133780 OMIM #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED
id in db is: 295167
inserted disease: 310440 OMIM #310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX;;XMEA
id in db is: 295168
inserted disease: 96 ORPHA Ataxia with vitamin E deficiency
id in db is: 295169
inserted disease: 607823 OMIM HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS
id in db is: 295170
inserted disease: 169100 OMIM CHAR SYNDROME
id in db is: 295171
inserted disease: 1458 ORPHA CODAS syndrome
id in db is: 295172
inserted disease: 240900 OMIM #240900 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH
id in db is: 295173
inserted disease: 182600 OMIM #182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A;;SPG3;;STRUMPELL DISEASE;;FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1; FSP1
id in db is: 295174
inserted disease: 300243 OMIM #300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH;;ANGELMAN-LIKE SYNDROME, X-LINKED;;MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME
id in db is: 295175
inserted disease: 602473 OMIM #602473 ENCEPHALOPATHY, ETHYLMALONIC; EE
id in db is: 295176
inserted disease: 3087 ORPHA Retinohepatoendocrinologic syndrome
id in db is: 295177
inserted disease: 178550 OMIM PULMONARY HEMOSIDEROSIS
id in db is: 295178
inserted disease: 611391 OMIM #611391 CATARACT, CORTICAL, JUVENILE-ONSET
id in db is: 295179
inserted disease: 614679 OMIM #614679 CILIARY DYSKINESIA, PRIMARY, 17; CILD17;;CILIARY DYSKINESIA, PRIMARY, 17, WITH OR WITHOUT SITUS INVERSUS
id in db is: 295180
inserted disease: 216920 OMIM COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT
id in db is: 295181
inserted disease: 613179 OMIM PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
id in db is: 295182
inserted disease: 615249 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12
id in db is: 295183
inserted disease: 1160 ORPHA Chylous ascites
id in db is: 295184
inserted disease: 612292 OMIM #612292 BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME;;BIRK-BAREL SYNDROME;;MENTAL RETARDATION WITH HYPOTONIA AND FACIAL DYSMORPHISM
id in db is: 295185
inserted disease: 231222 ORPHA Beta-thalassemia intermedia
id in db is: 295186
inserted disease: 177980 OMIM #177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES;;HASPESLAGH SYNDROME
id in db is: 295187
inserted disease: 600511 OMIM %600511 SCHIZOPHRENIA 3; SCZD3;;SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED
id in db is: 295188
inserted disease: 615637 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41; MRT41
id in db is: 295189
inserted disease: 300310 OMIM AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2
id in db is: 295190
inserted disease: 606156 OMIM 606156 SENER SYNDROME;;FRONTONASAL DYSPLASIA AND DILATED VIRCHOW-ROBIN SPACES
id in db is: 295191
inserted disease: 96167 ORPHA Recombinant 8 syndrome
id in db is: 295192
inserted disease: 171200 OMIM THIOUREA TASTINGPHENYLTHIOCARBAMIDE TASTING, INCLUDED
id in db is: 295193
inserted disease: 176410 OMIM PRECOCIOUS PUBERTY, MALE-LIMITED
id in db is: 295194
inserted disease: 607225 OMIM SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
id in db is: 295195
inserted disease: 616176 OMIM BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19
id in db is: 295196
inserted disease: 2487 ORPHA Lower limb deficiency-hypospadias syndrome
id in db is: 295197
inserted disease: 605229 OMIM SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE
id in db is: 295198
inserted disease: 1959 ORPHA Evans syndrome
id in db is: 295199
inserted disease: 612319 OMIM #612319 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35;;FATTY ACID HYDROXYLASE-ASSOCIATED NEURODEGENERATION; FAHN;;LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUTDYSTONIA
id in db is: 295200
inserted disease: 312863 OMIM #312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX;;XCID;;IMMUNODEFICIENCY 6; IMD6
id in db is: 295201
inserted disease: 192500 OMIM #192500 LONG QT SYNDROME 1; LQT1;;WARD-ROMANO SYNDROME; WRS;;ROMANO-WARD SYNDROME; RWS;;VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVALLONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
id in db is: 295202
inserted disease: 266600 OMIM #266600 INFLAMMATORY BOWEL DISEASE 1; IBD1REGIONAL ENTERITIS, INCLUDED;;CROHN DISEASE, INCLUDED;;ULCERATIVE COLITIS, INCLUDED;;CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED
id in db is: 295203
inserted disease: 610852 OMIM #610852 CILIARY DYSKINESIA, PRIMARY, 6; CILD6
id in db is: 295204
inserted disease: 79292 ORPHA Fish-eye disease
id in db is: 295205
inserted disease: 601371 OMIM CATARACT, AGE-RELATED NUCLEAR
id in db is: 295206
inserted disease: 3320 ORPHA Thrombocytopenia-absent radius syndrome
id in db is: 295207
inserted disease: 805 ORPHA Tuberous sclerosis complex
id in db is: 295208
inserted disease: 69077 ORPHA Rhabdoid tumor
id in db is: 295209
inserted disease: 143500 OMIM GILBERT SYNDROME
id in db is: 295210
inserted disease: 151441 OMIM LEUKEMIA/LYMPHOMA, CHRONIC B-CELL, 5
id in db is: 295211
inserted disease: 269870 OMIM 269870 SHORT STATURE-OBESITY SYNDROME; SSOS
id in db is: 295212
inserted disease: 614305 OMIM #614305 SCLEROSTEOSIS 2; SOST2
id in db is: 295213
inserted disease: 1860 ORPHA Thanatophoric dysplasia type 1
id in db is: 295214
inserted disease: 613668 OMIM #613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
id in db is: 295215
inserted disease: 233810 OMIM 233810 GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA
id in db is: 295216
inserted disease: 324422 ORPHA ALG13-CDG
id in db is: 295217
inserted disease: 145750 OMIM HYPERTRIGLYCERIDEMIA, FAMILIAL
id in db is: 295218
inserted disease: 616354 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20
id in db is: 295219
inserted disease: 209010 OMIM ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS,PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE
id in db is: 295220
inserted disease: 264180 OMIM PSEUDODIASTROPHIC DYSPLASIA
id in db is: 295221
inserted disease: 613678 OMIM %613678 BRACHYOLMIA TYPE 2;;BRACHYOLMIA, MAROTEAUX TYPE
id in db is: 295222
inserted disease: 1064 ORPHA Aniridia-renal agenesis-psychomotor retardation syndrome
id in db is: 295223
inserted disease: 150550 OMIM LAZY LEUKOCYTE SYNDROME
id in db is: 295224
inserted disease: 227500 OMIM #227500 FACTOR VII DEFICIENCY;;F7 DEFICIENCY;;HYPOPROCONVERTINEMIA
id in db is: 295225
inserted disease: 15 DECIPHER NF1-microdeletion syndrome
id in db is: 295226
inserted disease: 188570 OMIM THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
id in db is: 295227
inserted disease: 136300 OMIM %136300 FLYNN-AIRD SYNDROME
id in db is: 295228
inserted disease: 188560 OMIM THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
id in db is: 295229
inserted disease: 300914 OMIM #300914 DEAFNESS, X-LINKED 6; DFNX6
id in db is: 295230
inserted disease: 604218 OMIM ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB
id in db is: 295231
inserted disease: 615343 OMIM #615343 PULMONARY HYPERTENSION, PRIMARY, 3; PPH3
id in db is: 295232
inserted disease: 613347 OMIM #613347 PANCREATIC CANCER, SUSCEPTIBILITY TO, 2;;PNCA2
id in db is: 295233
inserted disease: 137280 OMIM GASTRITIS, FAMILIAL GIANT HYPERTROPHIC
id in db is: 295234
inserted disease: 241760 OMIM HYPOSPADIAS-MENTAL RETARDATION SYNDROME
id in db is: 295235
inserted disease: 319251 ORPHA Rift valley fever
id in db is: 295236
inserted disease: 614559 OMIM INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD
id in db is: 295237
inserted disease: 608106 OMIM #608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5;;HYPER-IgM SYNDROME 5
id in db is: 295238
inserted disease: 136480 OMIM FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL
id in db is: 295239
inserted disease: 90650 ORPHA Otopalatodigital syndrome type 1
id in db is: 295240
inserted disease: 218350 OMIM CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE
id in db is: 295241
inserted disease: 614104 OMIM #614104 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7
id in db is: 295242
inserted disease: 114065 OMIM 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL
id in db is: 295243
inserted disease: 222400 OMIM DIAPHRAGMATIC HERNIA 2
id in db is: 295244
inserted disease: 612781 OMIM #612781 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B;;IGHD IB;;DWARFISM OF SINDH
id in db is: 295245
inserted disease: 167250 OMIM #167250 PAGET DISEASE OF BONE 3; PDB3
id in db is: 295246
inserted disease: 564 ORPHA Meckel syndrome
id in db is: 295247
inserted disease: 59305 ORPHA Gestational trophoblastic neoplasm
id in db is: 295248
inserted disease: 609438 OMIM 609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK
id in db is: 295249
inserted disease: 89841 ORPHA Centripetalis recessive dystrophic epidermolysis bullosa
id in db is: 295250
inserted disease: 2183 ORPHA Hydrocephalus-obesity-hypogonadism syndrome
id in db is: 295251
inserted disease: 600132 OMIM RETINITIS PIGMENTOSA 14
id in db is: 295252
inserted disease: 613558 OMIM #613558 DEAFNESS, AUTOSOMAL DOMINANT 51; DFNA51;;CHROMOSOME 9Q21.11 DUPLICATION SYNDROME
id in db is: 295253
inserted disease: 615948 OMIM OROFACIODIGITAL SYNDROME XIV; OFD14
id in db is: 295254
inserted disease: 615170 OMIM %615170 WAHAB SYNDROME;;CAMPTODACTYLY, CLINODACTYLY, SYNDACTYLY, AND BIFID TOE SYNDROME
id in db is: 295255
inserted disease: 2006 ORPHA Median cleft lip/mandibule
id in db is: 295256
inserted disease: 180295 OMIM #180295 RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2
id in db is: 295257
inserted disease: 261112 ORPHA Monosomy 9p
id in db is: 295258
inserted disease: 2064 ORPHA Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
id in db is: 295259
inserted disease: 159050 OMIM MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES
id in db is: 295260
inserted disease: 300703 OMIM %300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5
id in db is: 295261
inserted disease: 300942 OMIM CHROMOSOME Xq26.3 DUPLICATION SYNDROME
id in db is: 295262
inserted disease: 278760 OMIM #278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF;;XP, GROUP F;;XERODERMA PIGMENTOSUM VI; XP6XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED; XPF/CS,INCLUDED
id in db is: 295263
inserted disease: 2549 ORPHA Oculoauriculovertebral spectrum with radial defects
id in db is: 295264
inserted disease: 613002 OMIM #613002 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2;;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 2; IIAE2
id in db is: 295265
inserted disease: 180070 OMIM 180070 RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT
id in db is: 295266
inserted disease: 300215 OMIM LISSENCEPHALY, X-LINKED, 2; LISX2
id in db is: 295267
inserted disease: 605375 OMIM #605375 EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3
id in db is: 295268
inserted disease: 615395 OMIM #615395 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16
id in db is: 295269
inserted disease: 2378 ORPHA Laurin-Sandrow syndrome
id in db is: 295270
inserted disease: 219730 OMIM VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD
id in db is: 295271
inserted disease: 156810 OMIM 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD
id in db is: 295272
inserted disease: 118830 OMIM CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE
id in db is: 295273
inserted disease: 603221 OMIM MYOPIA 3
id in db is: 295274
inserted disease: 612671 OMIM #612671 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4;;GOUT SUSCEPTIBILITY 4; GOUT4
id in db is: 295275
inserted disease: 613241 OMIM 613241 PSEUDOPILI ANNULATI
id in db is: 295276
inserted disease: 255990 OMIM NATHALIE SYNDROME
id in db is: 295277
inserted disease: 15 ORPHA Achondroplasia
id in db is: 295278
inserted disease: 130400 OMIM ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES
id in db is: 295279
inserted disease: 255320 OMIM MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
id in db is: 295280
inserted disease: 1570 ORPHA Symbrachydactyly of hands and feet
id in db is: 295281
inserted disease: 264070 OMIM #264070 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D;;HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINEDEHYDRATASE DEFICIENCY;;HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA;;CADH DEFICIENCY;;PCBD DEFICIENCY
id in db is: 295282
inserted disease: 304950 OMIM 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED
id in db is: 295283
inserted disease: 612350 OMIM #612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE;;SCD-EDS
id in db is: 295284
inserted disease: 3196 ORPHA Steroid dehydrogenase deficiency-dental anomalies syndrome
id in db is: 295285
inserted disease: 613500 OMIM #613500 AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT
id in db is: 295286
inserted disease: 615139 OMIM #615139 FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS
id in db is: 295287
inserted disease: 255200 OMIM #255200 MYOPATHY, CENTRONUCLEAR, 2; CNM2;;MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE;;MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE
id in db is: 295288
inserted disease: 1834 ORPHA Axial mesodermal dysplasia spectrum
id in db is: 295289
inserted disease: 2165 ORPHA Holoprosencephaly-caudal dysgenesis syndrome
id in db is: 295290
inserted disease: 393 ORPHA 46,XX testicular disorder of sex development
id in db is: 295291
inserted disease: 275240 OMIM TINEA IMBRICATA, SUSCEPTIBILITY TO
id in db is: 295292
inserted disease: 613237 OMIM #613237 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5;;GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 5
id in db is: 295293
inserted disease: 280397 ORPHA Familial Alzheimer-like prion disease
id in db is: 295294
inserted disease: 606764 OMIM #606764 GASTROINTESTINAL STROMAL TUMOR; GIST
id in db is: 295295
inserted disease: 777 ORPHA X-linked non-syndromic intellectual disability
id in db is: 295296
inserted disease: 267730 OMIM RETICULUM CELL SARCOMA
id in db is: 295297
inserted disease: 231970 OMIM 231970 GLUTEAL MUSCLES, ABSENCE OF
id in db is: 295298
inserted disease: 1826 ORPHA Frontometaphyseal dysplasia
id in db is: 295299
inserted disease: 303700 OMIM BLUE CONE MONOCHROMACY; BCM
id in db is: 295300
inserted disease: 607655 OMIM #607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS
id in db is: 295301
inserted disease: 243600 OMIM %243600 JEJUNAL ATRESIA;;APPLE PEEL SYNDROME;;APPLE PEEL SMALL BOWEL SYNDROME; APSB
id in db is: 295302
inserted disease: 2897 ORPHA Pityriasis rubra pilaris
id in db is: 295303
inserted disease: 551000 OMIM MYOPATHY, MITOCHONDRIAL, LETHAL INFANTILE
id in db is: 295304
inserted disease: 153840 OMIM %153840 MACULAR DYSTROPHY, VITELLIFORM, 1; VMD1;;MACULAR DYSTROPHY, ATYPICAL VITELLIFORM
id in db is: 295305
inserted disease: 605027 OMIM LYMPHOMA, NON-HODGKIN, FAMILIAL
id in db is: 295306
inserted disease: 2406 ORPHA Locked-in syndrome
id in db is: 295307
inserted disease: 98299 ORPHA Ichthyosis associated with a nucleotide excision repair anomaly
id in db is: 295308
inserted disease: 233700 OMIM GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE I
id in db is: 295309
inserted disease: 300799 OMIM #300799 MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR
id in db is: 295310
inserted disease: 616286 OMIM LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7
id in db is: 295311
inserted disease: 179000 OMIM PURPURA SIMPLEX
id in db is: 295312
inserted disease: 1707 ORPHA Distal trisomy 15q
id in db is: 295313
inserted disease: 613989 OMIM DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2
id in db is: 295314
inserted disease: 260500 OMIM PAPILLOMA OF CHOROID PLEXUS
id in db is: 295315
inserted disease: 93258 ORPHA Pfeiffer syndrome type 1
id in db is: 295316
inserted disease: 614128 OMIM #614128 LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD
id in db is: 295317
inserted disease: 2040 ORPHA Congenital bronchobiliary fistula
id in db is: 295318
inserted disease: 2497 ORPHA Upper limb mesomelic dysplasia
id in db is: 295319
inserted disease: 130950 OMIM 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD
id in db is: 295320
inserted disease: 607598 OMIM LETHAL CONGENITAL CONTRACTURE SYNDROME 2
id in db is: 295321
inserted disease: 101000 OMIM #101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN
id in db is: 295322
inserted disease: 269860 OMIM %269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;;SRPS IV;;BEEMER-LANGER SYNDROME;;SHORT RIB SYNDROME, BEEMER TYPE
id in db is: 295323
inserted disease: 224800 OMIM ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS
id in db is: 295324
inserted disease: 634 ORPHA Netherton syndrome
id in db is: 295325
inserted disease: 86914 ORPHA Lymphedema-cerebral arteriovenous anomaly syndrome
id in db is: 295326
inserted disease: 614480 OMIM #614480 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI
id in db is: 295327
inserted disease: 308800 OMIM #308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX;;KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI
id in db is: 295328
inserted disease: 614736 OMIM #614736 GLUCOCORTICOID DEFICIENCY 4; GCCD4
id in db is: 295329
inserted disease: 901 ORPHA Wells syndrome
id in db is: 295330
inserted disease: 2139 ORPHA Hernández-Aguirre Negrete syndrome
id in db is: 295331
inserted disease: 608051 OMIM MACULAR DYSTROPHY, RETINAL, 2
id in db is: 295332
inserted disease: 165700 OMIM OSTEOARTHROPATHY OF FINGERS, FAMILIAL
id in db is: 295333
inserted disease: 310900 OMIM OCCIPITAL HAIR, WHITE LOCK OF
id in db is: 295334
inserted disease: 615630 OMIM #615630 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10
id in db is: 295335
inserted disease: 109500 OMIM %109500 BASILAR IMPRESSION, PRIMARY
id in db is: 295336
inserted disease: 31709 ORPHA Infantile convulsions and choreoathetosis
id in db is: 295337
inserted disease: 271960 OMIM 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME;;ONAT SYNDROME
id in db is: 295338
inserted disease: 272100 OMIM SUDANOPHILIC CEREBRAL SCLEROSIS
id in db is: 295339
inserted disease: 615491 OMIM NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET; NDGOA
id in db is: 295340
inserted disease: 605231 OMIM BARDET-BIEDL SYNDROME 6; BBS6
id in db is: 295341
inserted disease: 97286 ORPHA Carney-Stratakis syndrome
id in db is: 295342
inserted disease: 247980 OMIM LIPASE B, LYSOSOMAL ACID
id in db is: 295343
inserted disease: 99745 ORPHA Typhoid
id in db is: 295344
inserted disease: 38 ORPHA Acrokeratoelastoidosis of Costa
id in db is: 295345
inserted disease: 616200 OMIM RUIJS-AALFS SYNDROME; RJALS
id in db is: 295346
inserted disease: 1416 ORPHA Familial calcium pyrophosphate deposition
id in db is: 295347
inserted disease: 616583 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE; SEDSTN
id in db is: 295348
inserted disease: 3312 ORPHA Thalidomide embryopathy
id in db is: 295349
inserted disease: 1788 ORPHA Acrofacial dysostosis, Rodríguez type
id in db is: 295350
inserted disease: 2668 ORPHA Nephropathy-deafness-hyperparathyroidism syndrome
id in db is: 295351
inserted disease: 245150 OMIM #245150 KEUTEL SYNDROME;;PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES
id in db is: 295352
inserted disease: 616521 OMIM #616521 MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39CHROMOSOME 2p25.3 DELETION SYNDROME, INCLUDED;;CHROMOSOME 2p25.3 DUPLICATION SYNDROME, INCLUDED
id in db is: 295353
inserted disease: 1492 ORPHA Corpus callosum agenesis-double urinary collecting system syndrome
id in db is: 295354
inserted disease: 610445 OMIM NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
id in db is: 295355
inserted disease: 399805 ORPHA Male infertility with azoospermia or oligozoospermia due to single gene mutation
id in db is: 295356
inserted disease: 613845 OMIM #613845 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS;;HUPRA SYNDROME
id in db is: 295357
inserted disease: 125853 OMIM DIABETES MELLITUS, NONINSULIN-DEPENDENT
id in db is: 295358
inserted disease: 309548 OMIM #309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE;;FRAXE MENTAL RETARDATION SYNDROME
id in db is: 295359
inserted disease: 2935 ORPHA Crossed polysyndactyly
id in db is: 295360
inserted disease: 108110 OMIM 108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC
id in db is: 295361
inserted disease: 601316 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10
id in db is: 295362
inserted disease: 607454 OMIM #607454 SPINOCEREBELLAR ATAXIA 21; SCA21
id in db is: 295363
inserted disease: 268040 OMIM 268040 RETINOHEPATOENDOCRINOLOGIC SYNDROME;;RHE SYNDROME
id in db is: 295364
inserted disease: 85320 ORPHA X-linked intellectual disability-macrocephaly-macroorchidism syndrome
id in db is: 295365
inserted disease: 162300 OMIM #162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B;;MEN IIB;;NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS;;WAGENMANN-FROBOESE SYNDROME;;MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY; MEN3, FORMERLYMUCOSAL NEUROMA SYNDROME, INCLUDED
id in db is: 295366
inserted disease: 1512 ORPHA Crane-Heise syndrome
id in db is: 295367
inserted disease: 608345 OMIM NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3
id in db is: 295368
inserted disease: 182255 OMIM SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION
id in db is: 295369
inserted disease: 3173 ORPHA Infantile spasms-broad thumbs syndrome
id in db is: 295370
inserted disease: 50942 ORPHA Keratosis palmoplantaris striata
id in db is: 295371
inserted disease: 606242 OMIM %606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM;;KONDOH SYNDROME
id in db is: 295372
inserted disease: 614132 OMIM #614132 CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATIONSYNDROME; CFSMR;;TMCO1 DEFECT SYNDROME
id in db is: 295373
inserted disease: 138990 OMIM GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE
id in db is: 295374
inserted disease: 236400 OMIM HUMERORADIAL SYNOSTOSISHUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME
id in db is: 295375
inserted disease: 600224 OMIM #600224 SPINOCEREBELLAR ATAXIA 5; SCA5
id in db is: 295376
inserted disease: 212360 OMIM CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME
id in db is: 295377
inserted disease: 610244 OMIM SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT
id in db is: 295378
inserted disease: 216 ORPHA Neuronal ceroid lipofuscinosis
id in db is: 295379
inserted disease: 608372 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 49
id in db is: 295380
inserted disease: 231632 ORPHA Ectopic aldosterone-producing tumor
id in db is: 295381
inserted disease: 277200 OMIM RIGHT VENTRICULAR HYPOPLASIA, ISOLATED
id in db is: 295382
inserted disease: 236300 OMIM HOOFT DISEASE
id in db is: 295383
inserted disease: 79282 ORPHA Methylmalonic acidemia with homocystinuria, type cblC
id in db is: 295384
inserted disease: 605361 OMIM SPINOCEREBELLAR ATAXIA 14
id in db is: 295385
inserted disease: 615271 OMIM HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA; HH21
id in db is: 295386
inserted disease: 230500 OMIM #230500 GM1-GANGLIOSIDOSIS, TYPE I;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I;;GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1;;BETA-GALACTOSIDASE-1 DEFICIENCY;;GLB1 DEFICIENCYGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT,INCLUDED
id in db is: 295387
inserted disease: 253270 OMIM HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
id in db is: 295388
inserted disease: 182190 OMIM SINUS NODE DISEASE AND MYOPIA
id in db is: 295389
inserted disease: 255 ORPHA Dopa-responsive dystonia
id in db is: 295390
inserted disease: 300578 OMIM CHROMOSOME XP11.3 DELETION SYNDROME
id in db is: 295391
inserted disease: 208910 OMIM ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH
id in db is: 295392
inserted disease: 168558 ORPHA 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome
id in db is: 295393
inserted disease: 608622 OMIM HYPERTENSION, DIASTOLIC, RESISTANCE TO
id in db is: 295394
inserted disease: 3453 ORPHA Autoimmune polyendocrinopathy type 1
id in db is: 295395
inserted disease: 179820 OMIM RENIN
id in db is: 295396
inserted disease: 300645 OMIM #300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2; AMCBX2;;ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED, X-LINKED 2;;ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED, X-LINKED2;;MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED 2;;MYCOBACTERIAL DISEASE, MENDELIAN SUSCEPTIBILITY TO, X-LINKED RECESSIVE2; XRMSMD2
id in db is: 295397
inserted disease: 610756 OMIM #610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2
id in db is: 295398
inserted disease: 263210 OMIM %263210 POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA
id in db is: 295399
inserted disease: 213500 OMIM CEREBRAL ANGIOPATHY, DYSPHORIC
id in db is: 295400
inserted disease: 277900 OMIM #277900 WILSON DISEASE;;WND; WD;;HEPATOLENTICULAR DEGENERATION
id in db is: 295401
inserted disease: 601847 OMIM CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
id in db is: 295402
inserted disease: 2222 ORPHA Hypertrichosis lanuginosa congenita
id in db is: 295403
inserted disease: 268400 OMIM #268400 ROTHMUND-THOMSON SYNDROME; RTS;;POIKILODERMA ATROPHICANS AND CATARACT
id in db is: 295404
inserted disease: 604360 OMIM #604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT ANDTHIN CORPUS CALLOSUM;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUSCALLOSUM;;HSP-TCC
id in db is: 295405
inserted disease: 3378 ORPHA Trisomy 13
id in db is: 295406
inserted disease: 1948 ORPHA Epilepsy-microcephaly-skeletal dysplasia syndrome
id in db is: 295407
inserted disease: 613790 OMIM #613790 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1;;C8 DEFICIENCY, TYPE I;;C8 ALPHA-GAMMA DEFICIENCY;;C8AG DEFICIENCY
id in db is: 295408
inserted disease: 601042 OMIM #601042 DYSTONIA 9; DYT9;;CHOREOATHETOSIS/SPASTICITY, EPISODIC;;CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA;;CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
id in db is: 295409
inserted disease: 1354 ORPHA Heart defects-limb shortening syndrome
id in db is: 295410
inserted disease: 3250 ORPHA Proximal symphalangism
id in db is: 295411
inserted disease: 208081 OMIM 208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES
id in db is: 295412
inserted disease: 157700 OMIM %157700 MITRAL VALVE PROLAPSE 1; MVP1;;MITRAL VALVE PROLAPSE, MYXOMATOUS 1; MMVP1;;MYXOMATOUS MITRAL VALVE PROLAPSE 1;;MITRAL VALVE PROLAPSE, FAMILIAL; MVP PROLAPSED MITRAL VALVE; PMV;;MITRAL REGURGITATION, FAMILIAL;;FLOPPY MITRAL VALVE;;BARLOW SYNDROME;;MYXOMATOUS VALVULAR DISEASE, FAMILIAL;;CLICK-MURMUR SYNDROME
id in db is: 295413
inserted disease: 613385 OMIM #613385 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD
id in db is: 295414
inserted disease: 603649 OMIM #603649 CONE-ROD DYSTROPHY 7; CORD7
id in db is: 295415
inserted disease: 615361 OMIM #615361 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2
id in db is: 295416
inserted disease: 142350 OMIM HERNIA, DOUBLE INGUINAL
id in db is: 295417
inserted disease: 188020 OMIM THROMBOCYTOPENIA, CYCLIC
id in db is: 295418
inserted disease: 606840 OMIM FACIOMANDIBULAR MYOCLONUS, NOCTURNAL
id in db is: 295419
inserted disease: 249230 OMIM MEGAEPIPHYSEAL DWARFISM
id in db is: 295420
inserted disease: 601363 OMIM WILMS TUMOR 4
id in db is: 295421
inserted disease: 106210 OMIM ANIRIDIA
id in db is: 295422
inserted disease: 108600 OMIM SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1
id in db is: 295423
inserted disease: 115660 OMIM CATARACT, CONGENITAL, CERULEAN TYPE, 1
id in db is: 295424
inserted disease: 1777 ORPHA Temtamy syndrome
id in db is: 295425
inserted disease: 79400 ORPHA Localized epidermolysis bullosa simplex
id in db is: 295426
inserted disease: 3216 ORPHA Conductive deafness-malformed external ear syndrome
id in db is: 295427
inserted disease: 203500 OMIM ALKAPTONURIA
id in db is: 295428
inserted disease: 613779 OMIM #613779 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D;;C3 DEFICIENCY, AUTOSOMAL RECESSIVE
id in db is: 295429
inserted disease: 67041 ORPHA Hyaluronidase deficiency
id in db is: 295430
inserted disease: 616469 OMIM RETINITIS PIGMENTOSA 72; RP72
id in db is: 295431
inserted disease: 300257 OMIM #300257 DANON DISEASE;;VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED;;PSEUDOGLYCOGENOSIS II;;ANTOPOL DISEASE;;LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY,FORMERLY;;GLYCOGEN STORAGE DISEASE IIb; GSD2B, FORMERLY;;GSD IIb, FORMERLY
id in db is: 295432
inserted disease: 37 DECIPHER 3q29 microdeletion syndrome
id in db is: 295433
inserted disease: 615518 OMIM #615518 IMMUNODEFICIENCY 13; IMD13;;IDIOPATHIC CD4 LYMPHOPENIA; ICL
id in db is: 295434
inserted disease: 54028 ORPHA Plummer-Vinson syndrome
id in db is: 295435
inserted disease: 218649 OMIM CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG
id in db is: 295436
inserted disease: 606232 OMIM #606232 PHELAN-MCDERMID SYNDROME; PHMDS;;CHROMOSOME 22q13.3 DELETION SYNDROME;;TELOMERIC 22q13 MONOSOMY SYNDROME
id in db is: 295437
inserted disease: 616362 OMIM #616362 MENTAL RETARDATION, AUTOSOMAL DOMINANT 36; MRD36
id in db is: 295438
inserted disease: 116100 OMIM 116100 CATARACT, MEMBRANOUS
id in db is: 295439
inserted disease: 137760 OMIM GLAUCOMA, PRIMARY OPEN ANGLE
id in db is: 295440
inserted disease: 613686 OMIM SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4
id in db is: 295441
inserted disease: 2645 ORPHA Osteoglophonic dwarfism
id in db is: 295442
inserted disease: 607039 OMIM #607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
id in db is: 295443
inserted disease: 85282 ORPHA MEHMO syndrome
id in db is: 295444
inserted disease: 181700 OMIM 181700 SCLEROCORNEA, AUTOSOMAL DOMINANT
id in db is: 295445
inserted disease: 601410 OMIM DIABETES MELLITUS, TRANSIENT NEONATAL, 1
id in db is: 295446
inserted disease: 225790 OMIM #225790 PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME;PVHH;;HYDRANENCEPHALY, FOWLER TYPE;;HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY;;ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV
id in db is: 295447
inserted disease: 157973 ORPHA Congenital muscular dystrophy due to LMNA mutation
id in db is: 295448
inserted disease: 214200 OMIM CEROID STORAGE DISEASE
id in db is: 295449
inserted disease: 168885 OMIM PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA
id in db is: 295450
inserted disease: 239100 OMIM #239100 HYPEROSTOSIS CORTICALIS GENERALISATA;;VAN BUCHEM DISEASE; VBCH;;HYPERPHOSPHATASEMIA TARDA;;ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE
id in db is: 295451
inserted disease: 753 ORPHA 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
id in db is: 295452
inserted disease: 1074 ORPHA Ankyloblepharon filiforme-imperforate anus syndrome
id in db is: 295453
inserted disease: 287 ORPHA Ehlers-Danlos syndrome, classic type
id in db is: 295454
inserted disease: 611881 OMIM #611881 GLYCOGEN STORAGE DISEASE XII; GSD12;;GSD XII;;ALDOLASE A DEFICIENCY;;ALDOA DEFICIENCY;;ALDOLASE DEFICIENCY, RED CELL;;RED CELL ALDOLASE DEFICIENCY
id in db is: 295455
inserted disease: 118350 OMIM CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS
id in db is: 295456
inserted disease: 607326 OMIM #607326 SMITH-MCCORT DYSPLASIA 1; SMC1;;SMC
id in db is: 295457
inserted disease: 601650 OMIM PARAGANGLIOMAS 2
id in db is: 295458
inserted disease: 165000 OMIM OPHTHALMOPLEGIA, FAMILIAL STATIC
id in db is: 295459
inserted disease: 612437 OMIM #612437 EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B
id in db is: 295460
inserted disease: 79263 ORPHA Infantile neuronal ceroid lipofuscinosis
id in db is: 295461
inserted disease: 8 ORPHA 47,XYY syndrome
id in db is: 295462
inserted disease: 259270 OMIM OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI
id in db is: 295463
inserted disease: 2258 ORPHA Congenital unilateral pulmonary hypoplasia
id in db is: 295464
inserted disease: 229100 OMIM FORMIMINOTRANSFERASE DEFICIENCY
id in db is: 295465
inserted disease: 614433 OMIM #614433 ATRIAL SEPTAL DEFECT 8; ASD8
id in db is: 295466
inserted disease: 231200 OMIM #231200 BERNARD-SOULIER SYNDROME; BSS;;BLEEDING DISORDER, PLATELET-TYPE, 1; BDPLT1;;PLATELET GLYCOPROTEIN Ib DEFICIENCY;;GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF;;VON WILLEBRAND FACTOR RECEPTOR DEFICIENCYBERNARD-SOULIER SYNDROME, TYPE A1, INCLUDED;;BERNARD-SOULIER SYNDROME, TYPE B, INCLUDED;;BERNARD-SOULIER SYNDROME, TYPE C, INCLUDED
id in db is: 295467
inserted disease: 610599 OMIM #610599 RETINITIS PIGMENTOSA 36; RP36
id in db is: 295468
inserted disease: 615074 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18
id in db is: 295469
inserted disease: 211000 OMIM BLUE DIAPER SYNDROME
id in db is: 295470
inserted disease: 609322 OMIM #609322 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1;;BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIALMALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED;;RHABDOID TUMOR, INCLUDED; RDT, INCLUDED;;TERATOID TUMOR, ATYPICAL, INCLUDED;;AT/RT, INCLUDED
id in db is: 295471
inserted disease: 85173 ORPHA IMAGe syndrome
id in db is: 295472
inserted disease: 3419 ORPHA Van Regemorter-Pierquin-Vamos syndrome
id in db is: 295473
inserted disease: 158350 OMIM #158350 COWDEN SYNDROME 1; CWS1;;CS; CD;;MULTIPLE HAMARTOMA SYNDROME; MHAMDYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED;;CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED; CPD6, INCLUDED;;CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED;;LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED;;PROTEUS-LIKE SYNDROME, INCLUDED
id in db is: 295474
inserted disease: 219500 OMIM CYSTATHIONINURIA
id in db is: 295475
inserted disease: 242680 OMIM 242680 CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA;;IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA
id in db is: 295476
inserted disease: 834 ORPHA Free sialic acid storage disease
id in db is: 295477
inserted disease: 200900 OMIM ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY
id in db is: 295478
inserted disease: 610185 OMIM #610185 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2; CAMRQ2;;CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDALLOCOMOTION 2
id in db is: 295479
inserted disease: 614099 OMIM #614099 CRANIOECTODERMAL DYSPLASIA 3; CED3
id in db is: 295480
inserted disease: 247691 ORPHA Retinal vasculopathy and cerebral leukodystrophy
id in db is: 295481
inserted disease: 139426 ORPHA Perioral myoclonia with absences
id in db is: 295482
inserted disease: 271980 OMIM #271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD;;SSADH DEFICIENCY;;4-@HYDROXYBUTYRIC ACIDURIA;;GABA METABOLIC DEFECT;;GAMMA-HYDROXYBUTYRIC ACIDURIA
id in db is: 295483
inserted disease: 100100 OMIM #100100 PRUNE BELLY SYNDROME; PBS;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM;;EAGLE-BARRETT SYNDROME; EGBRS
id in db is: 295484
inserted disease: 182000 OMIM #182000 KERATOSIS, SEBORRHEIC
id in db is: 295485
inserted disease: 50815 ORPHA Branchiogenic deafness syndrome
id in db is: 295486
inserted disease: 173800 OMIM %173800 POLAND SYNDROME;;POLAND SYNDACTYLY;;POLAND ANOMALY;;POLAND SEQUENCEPECTORALIS MUSCLE, ABSENCE OF, INCLUDED
id in db is: 295487
inserted disease: 163971 ORPHA X-linked intellectual disability, Cilliers type
id in db is: 295488
inserted disease: 602200 OMIM VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY
id in db is: 295489
inserted disease: 607554 OMIM ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
id in db is: 295490
inserted disease: 613078 OMIM #613078 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD;;NBS-LIKE DISORDER;;RAD50 DEFICIENCY;;MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY
id in db is: 295491
inserted disease: 357154 ORPHA Oral submucous fibrosis
id in db is: 295492
inserted disease: 79434 ORPHA Oculocutaneous albinism type 1B
id in db is: 295493
inserted disease: 605074 OMIM #605074 RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
id in db is: 295494
inserted disease: 604864 OMIM #604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
id in db is: 295495
inserted disease: 603629 OMIM #603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21
id in db is: 295496
inserted disease: 612998 OMIM #612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
id in db is: 295497
inserted disease: 616435 OMIM FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT
id in db is: 295498
inserted disease: 155000 OMIM MAXILLOFACIAL DYSOSTOSIS
id in db is: 295499
inserted disease: 613759 OMIM #613759 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, ANDCARDIOVASCULAR MALFORMATIONS;;FADD DEFICIENCY
id in db is: 295500
inserted disease: 613803 OMIM #613803 MEIER-GORLIN SYNDROME 3; MGORS3
id in db is: 295501
inserted disease: 229050 OMIM #229050 FOLATE MALABSORPTION, HEREDITARY
id in db is: 295502
inserted disease: 2429 ORPHA Macrocephaly-spastic paraplegia-dysmorphism syndrome
id in db is: 295503
inserted disease: 151700 OMIM LIPOMA OF THE CONJUNCTIVA
id in db is: 295504
inserted disease: 1764 ORPHA Familial dysautonomia
id in db is: 295505
inserted disease: 125550 OMIM DERMAL RIDGES-OFF-THE-END
id in db is: 295506
inserted disease: 1484 ORPHA Contractures-ectodermal dysplasia-cleft lip/palate syndrome
id in db is: 295507
inserted disease: 300833 OMIM #300833 46,XX SEX REVERSAL 3; SRXX3;;CHROMOSOME Xq26 DUPLICATION SYNDROME;;46,XX SEX REVERSAL, SOX3-RELATEDCHROMOSOME Xq26 DELETION SYNDROME, INCLUDED
id in db is: 295508
inserted disease: 610655 OMIM TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4
id in db is: 295509
inserted disease: 103500 OMIM TIETZ SYNDROME
id in db is: 295510
inserted disease: 49 ORPHA Penile agenesis
id in db is: 295511
inserted disease: 167850 OMIM 167850 PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE
id in db is: 295512
inserted disease: 615688 OMIM #615688 POLYARTERITIS NODOSA, CHILDHOOD-ONSET; PAN;;ADA2 DEFICIENCY
id in db is: 295513
inserted disease: 122860 OMIM #122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD
id in db is: 295514
inserted disease: 240 ORPHA Léri-Weill dyschondrosteosis
id in db is: 295515
inserted disease: 2940 ORPHA Porencephaly
id in db is: 295516
inserted disease: 606545 OMIM #606545 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3; ARCI3;;COLLODION BABY, SELF-HEALING;;ICHTHYOSIS, LAMELLAR, 5, FORMERLY; LI5, FORMERLY
id in db is: 295517
inserted disease: 207000 OMIM ANOSMIA FOR ISOBUTYRIC ACID
id in db is: 295518
inserted disease: 216340 OMIM #216340 YUNIS-VARON SYNDROME; YVS;;CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTALAPHALANGIA
id in db is: 295519
inserted disease: 253250 OMIM #253250 MULIBREY NANISM;;MUSCLE-LIVER-BRAIN-EYE NANISM;;PERICARDIAL CONSTRICTION AND GROWTH FAILURE;;PERHEENTUPA SYNDROME
id in db is: 295520
inserted disease: 2972 ORPHA Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
id in db is: 295521
inserted disease: 133705 OMIM 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS;;RASMUSSEN SYNDROME
id in db is: 295522
inserted disease: 615434 OMIM RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS
id in db is: 295523
inserted disease: 615709 OMIM #615709 SACRAL AGENESIS WITH VERTEBRAL ANOMALIES; SAVA
id in db is: 295524
inserted disease: 125600 OMIM DERMATOSIS PAPULOSA NIGRA
id in db is: 295525
inserted disease: 135150 OMIM #135150 BIRT-HOGG-DUBE SYNDROME; BHD;;HORNSTEIN-KNICKENBERG SYNDROME;;FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS
id in db is: 295526
inserted disease: 609649 OMIM TRICHILEMMAL CYST 1
id in db is: 295527
inserted disease: 221 ORPHA Dermatomyositis
id in db is: 295528
inserted disease: 615938 OMIM MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3
id in db is: 295529
inserted disease: 615113 OMIM #615113 MICROPHTHALMIA, ISOLATED 8; MCOP8
id in db is: 295530
inserted disease: 132800 OMIM MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA
id in db is: 295531
inserted disease: 219050 OMIM CRYPTORCHIDISM, UNILATERAL OR BILATERAL
id in db is: 295532
inserted disease: 264080 OMIM PROGESTERONE RESISTANCE
id in db is: 295533
inserted disease: 605462 OMIM BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1
id in db is: 295534
inserted disease: 615133 OMIM *615133 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE5; GALNTL5;;GalNAc TRANSFERASE 19; GalNAcT19
id in db is: 295535
inserted disease: 606612 OMIM #606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5; MDDGB5;;MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C;;MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
id in db is: 295536
inserted disease: 613672 OMIM #613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4
id in db is: 295537
inserted disease: 228400 OMIM FEVER, FAMILIAL LIFELONG PERSISTENT
id in db is: 295538
inserted disease: 612940 OMIM #612940 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B;;CUTIS LAXA WITH PROGEROID FEATURES
id in db is: 295539
inserted disease: 612240 OMIM #612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7
id in db is: 295540
inserted disease: 1816 ORPHA Ectodermal dysplasia, Berlin type
id in db is: 295541
inserted disease: 191830 OMIM #191830 RENAL HYPODYSPLASIA/APLASIA 1; RHDA1;;RENAL ADYSPLASIA;;RENAL AGENESIS;;RENAL APLASIA;;HEREDITARY RENAL APLASIA; HRA
id in db is: 295542
inserted disease: 104130 OMIM %104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY;;SHOKEIR SYNDROME
id in db is: 295543
inserted disease: 600122 OMIM MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE
id in db is: 295544
inserted disease: 616067 OMIM 46,XY SEX REVERSAL 9; SRXY9
id in db is: 295545
inserted disease: 97229 ORPHA Riboflavin transporter deficiency
id in db is: 295546
inserted disease: 607785 OMIM #607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML;;LEUKEMIA, JUVENILE MYELOMONOCYTICLEUKEMIA, CHRONIC MYELOMONOCYTIC, INCLUDED; CMML, INCLUDED
id in db is: 295547
inserted disease: 615009 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 17; MRD17
id in db is: 295548
inserted disease: 607371 OMIM DYSTONIA, JUVENILE-ONSET
id in db is: 295549
inserted disease: 3331 ORPHA Bowed tibiae-radial anomalies-osteopenia-fractures syndrome
id in db is: 295550
inserted disease: 609289 OMIM SYNCOPE, FAMILIAL VASOVAGAL; VVS
id in db is: 295551
inserted disease: 612651 OMIM ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO
id in db is: 295552
inserted disease: 1435 ORPHA Choroideremia-deafness-obesity syndrome
id in db is: 295553
inserted disease: 613811 OMIM #613811 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D;;CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE; PCCA;;CEREBELLO-CEREBRAL ATROPHY, PROGRESSIVE
id in db is: 295554
inserted disease: 102350 OMIM ACROMIAL DIMPLES
id in db is: 295555
inserted disease: 190600 OMIM %190600 TRIPHALANGEAL THUMB, NONOPPOSABLE
id in db is: 295556
inserted disease: 308930 OMIM #308930 LEIGH SYNDROME, X-LINKED
id in db is: 295557
inserted disease: 122200 OMIM CORNEAL DYSTROPHY, LATTICE TYPE I
id in db is: 295558
inserted disease: 611090 OMIM #611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12
id in db is: 295559
inserted disease: 190680 OMIM TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY
id in db is: 295560
inserted disease: 611895 OMIM #611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9
id in db is: 295561
inserted disease: 228240 ORPHA Elastoderma
id in db is: 295562
inserted disease: 103580 OMIM #103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE
id in db is: 295563
inserted disease: 300709 OMIM X-LINKED INTELLECTUAL DISABILITY, SHRIMPTON TYPE
id in db is: 295564
inserted disease: 158400 OMIM MUSCLE CRAMPS, FAMILIAL
id in db is: 295565
inserted disease: 222745 OMIM 2,4-@DIENOYL-COA REDUCTASE 1
id in db is: 295566
inserted disease: 1264 ORPHA Tricho-retino-dento-digital syndrome
id in db is: 295567
inserted disease: 605899 OMIM #605899 GLYCINE ENCEPHALOPATHY; GCE;;HYPERGLYCINEMIA, NONKETOTIC; NKHHYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED
id in db is: 295568
inserted disease: 2388 ORPHA Choreoacanthocytosis
id in db is: 295569
inserted disease: 614065 OMIM MYOPATHY, DISTAL, 4; MPD4
id in db is: 295570
inserted disease: 98428 ORPHA Secondary polycythemia
id in db is: 295571
inserted disease: 2149 ORPHA Nodular neuronal heterotopia
id in db is: 295572
inserted disease: 154300 OMIM MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH
id in db is: 295573
inserted disease: 2292 ORPHA Congenital bowing of long bones
id in db is: 295574
inserted disease: 616280 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U
id in db is: 295575
inserted disease: 615285 OMIM #615285 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5
id in db is: 295576
inserted disease: 173100 OMIM #173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2;;IGHD II;;GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL DOMINANT;;PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMALDOMINANT
id in db is: 295577
inserted disease: 158590 OMIM #158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A;;HMN IIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA;;DHMN2A;;SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA;;CHARCOT-MARIE-TOOTH DISEASE, SPINAL, IIA
id in db is: 295578
inserted disease: 247200 OMIM #247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS;;MDSCHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED;;MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
id in db is: 295579
inserted disease: 602124 OMIM DYSTONIA 7, TORSION
id in db is: 295580
inserted disease: 264200 ORPHA 14q22q23 microdeletion syndrome
id in db is: 295581
inserted disease: 72 ORPHA Angelman syndrome
id in db is: 295582
inserted disease: 277175 OMIM VASCULAR HYALINOSIS
id in db is: 295583
inserted disease: 279882 ORPHA Spasmus nutans
id in db is: 295584
inserted disease: 139090 OMIM #139090 GRAY PLATELET SYNDROME; GPS;;BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;;PLATELET ALPHA-GRANULE DEFICIENCY
id in db is: 295585
inserted disease: 2141 ORPHA Diaphragmatic defect-limb deficiency-skull defect syndrome
id in db is: 295586
inserted disease: 91378 ORPHA Hereditary angioedema
id in db is: 295587
inserted disease: 93274 ORPHA Thanatophoric dysplasia type 2
id in db is: 295588
inserted disease: 146800 OMIM ICHTHYOSIS, BULLOUS TYPE
id in db is: 295589
inserted disease: 1606 ORPHA 1p36 deletion syndrome
id in db is: 295590
inserted disease: 149600 OMIM LABIA MINORA, INCOMPLETE ADHESION OF
id in db is: 295591
inserted disease: 110700 OMIM BLOOD GROUP--DUFFY SYSTEM
id in db is: 295592
inserted disease: 614653 OMIM #614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6;;HSAN VI
id in db is: 295593
inserted disease: 614892 OMIM #614892 IMMUNODEFICIENCY 31A; IMD31A ;;IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;; STAT1 DEFICIENCY, AUTOSOMAL DOMINANT
id in db is: 295594
inserted disease: 2634 ORPHA Mesomelic dwarfism, Reinhardt-Pfeiffer type
id in db is: 295595
inserted disease: 124700 OMIM DEAFNESS, MID-TONE NEURAL
id in db is: 295596
inserted disease: 616330 OMIM MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18
id in db is: 295597
inserted disease: 206900 OMIM MICROPHTHALMIA, SYNDROMIC 3
id in db is: 295598
inserted disease: 1113 ORPHA Aphalangy-syndactyly-microcephaly syndrome
id in db is: 295599
inserted disease: 229650 OMIM FRUCTOSE UTILIZATION
id in db is: 295600
inserted disease: 265880 OMIM PYKNOACHONDROGENESIS
id in db is: 295601
inserted disease: 614838 OMIM #614838 HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9
id in db is: 295602
inserted disease: 615833 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21
id in db is: 295603
inserted disease: 1935 ORPHA Early myoclonic encephalopathy
id in db is: 295604
inserted disease: 126950 OMIM DWARFISM WITH TALL VERTEBRAE
id in db is: 295605
inserted disease: 301220 OMIM %301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR;;AMYLOIDOSIS, FAMILIAL CUTANEOUS
id in db is: 295606
inserted disease: 86919 ORPHA Keratosis palmaris et plantaris-clinodactyly syndrome
id in db is: 295607
inserted disease: 215100 OMIM #215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1;;PEROXISOME BIOGENESIS DISORDER 9; PBD9;;CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM; CDPR;;CHONDRODYSTROPHIA CALCIFICANS PUNCTATA
id in db is: 295608
inserted disease: 612561 OMIM #612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6;;AASE-SMITH SYNDROME II;;AASE SYNDROME
id in db is: 295609
inserted disease: 79399 ORPHA Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
id in db is: 295610
inserted disease: 615721 OMIM #615721 RENAL HYPODYSPLASIA/APLASIA 2; RHDA2
id in db is: 295611
inserted disease: 271900 OMIM #271900 CANAVAN DISEASE;;CANAVAN-VAN BOGAERT-BERTRAND DISEASE;;SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM;;ASPARTOACYLASE DEFICIENCY;;ASPA DEFICIENCY;;ASP DEFICIENCY;;AMINOACYLASE 2 DEFICIENCY;;ACY2 DEFICIENCY
id in db is: 295612
inserted disease: 614204 OMIM #614204 PSORIASIS 14, PUSTULAR; PSORS14;;INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY; DITRA;;GENERALIZED PUSTULAR PSORIASIS; GPP;;PSORP;;ACRODERMATITIS CONTINUA OF HALLOPEAU;;PALMOPLANTAR PUSTULOSIS
id in db is: 295613
inserted disease: 650 ORPHA LCAT deficiency
id in db is: 295614
inserted disease: 1525 ORPHA Cranio-osteoarthropathy
id in db is: 295615
inserted disease: 615040 OMIM #615040 EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1
id in db is: 295616
inserted disease: 108770 OMIM #108770 ATRIAL STANDSTILL;;ATRIAL CARDIOMYOPATHY WITH HEART BLOCK;;CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
id in db is: 295617
inserted disease: 224550 OMIM 224550 DYSTONIA WITH RINGBINDEN
id in db is: 295618
inserted disease: 277380 OMIM #277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE;;METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE;;METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT;;VITAMIN B12 LYSOSOMAL RELEASE DEFECT;;COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF;;VITAMIN B12 STORAGE DISEASE;;COBALAMIN F DISEASE; cblF
id in db is: 295619
inserted disease: 250977 ORPHA AICA-ribosiduria
id in db is: 295620
inserted disease: 616651 OMIM ROIFMAN SYNDROME; RFMN
id in db is: 295621
inserted disease: 868 ORPHA Triose phosphate-isomerase deficiency
id in db is: 295622
inserted disease: 309801 OMIM #309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7;;MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS;;MICROPHTHALMIA, DERMAL APLASIA, AND SCLEROCORNEA;;MIDAS SYNDROME
id in db is: 295623
inserted disease: 1194 ORPHA TMEM70-related mitochondrial encephalo-cardio-myopathy
id in db is: 295624
inserted disease: 255110 OMIM CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
id in db is: 295625
inserted disease: 309000 OMIM #309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL;;OCRL1;;LOWE SYNDROME;;PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY
id in db is: 295626
inserted disease: 616489 OMIM GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF
id in db is: 295627
inserted disease: 83 ORPHA Antley-Bixler syndrome
id in db is: 295628
inserted disease: 935 ORPHA Short-limb skeletal dysplasia with severe combined immunodeficiency
id in db is: 295629
inserted disease: 141700 OMIM 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES
id in db is: 295630
inserted disease: 611493 OMIM #611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4
id in db is: 295631
inserted disease: 206300 OMIM ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF REDCELL MEMBRANE
id in db is: 295632
inserted disease: 275370 OMIM TRICARBOXYLIC ACID CYCLE, DEFECT OF
id in db is: 295633
inserted disease: 600919 OMIM CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
id in db is: 295634
inserted disease: 615512 OMIM TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID
id in db is: 295635
inserted disease: 301200 OMIM #301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;;AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;;AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;;ENAMEL HYPOPLASIA, X-LINKED
id in db is: 295636
inserted disease: 607259 OMIM #607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
id in db is: 295637
inserted disease: 145260 OMIM PSEUDOHYPOALDOSTERONISM, TYPE II
id in db is: 295638
inserted disease: 614974 OMIM #614974 FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD4
id in db is: 295639
inserted disease: 215050 OMIM CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS
id in db is: 295640
inserted disease: 611369 OMIM #611369 LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3;;MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
id in db is: 295641
inserted disease: 119580 OMIM %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
id in db is: 295642
inserted disease: 126250 OMIM DISTAL OSTEOSCLEROSIS
id in db is: 295643
inserted disease: 164900 OMIM %164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA;;OMM SYNDROME
id in db is: 295644
inserted disease: 194070 OMIM WILMS TUMOR 1
id in db is: 295645
inserted disease: 148350 OMIM KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
id in db is: 295646
inserted disease: 600559 OMIM HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS
id in db is: 295647
inserted disease: 1897 ORPHA EEM syndrome
id in db is: 295648
inserted disease: 615400 OMIM EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5
id in db is: 295649
inserted disease: 614618 OMIM #614618 HYPEREKPLEXIA 3; HKPX3
id in db is: 295650
inserted disease: 601813 OMIM #601813 EXUDATIVE VITREORETINOPATHY 4; EVR4
id in db is: 295651
inserted disease: 278000 OMIM LYSOSOMAL ACID LIPASE DEFICIENCY
id in db is: 295652
inserted disease: 31112 ORPHA Dermatofibrosarcoma protuberans
id in db is: 295653
inserted disease: 1046 ORPHA Lethal hemolytic anemia-genital anomalies syndrome
id in db is: 295654
inserted disease: 139600 OMIM HAIRY ELBOWS
id in db is: 295655
inserted disease: 615617 OMIM #615617 IMMUNODEFICIENCY 19; IMD19;;CD3-DELTA DEFICIENCY;;SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE,NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
id in db is: 295656
inserted disease: 141000 OMIM HEMANGIOMA-THROMBOCYTOPENIA SYNDROME
id in db is: 295657
inserted disease: 601709 OMIM #601709 QUEBEC PLATELET DISORDER; QPD;;BLEEDING DISORDER, PLATELET-TYPE, 5; BDPLT5;;FACTOR V QUEBEC
id in db is: 295658
inserted disease: 2373 ORPHA Congenital laryngomalacia
id in db is: 295659
inserted disease: 300488 OMIM MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1
id in db is: 295660
inserted disease: 1920 ORPHA Toluene embryopathy
id in db is: 295661
inserted disease: 300867 OMIM #300867 KABUKI SYNDROME 2; KABUK2
id in db is: 295662
inserted disease: 614250 OMIM #614250 NARCOLEPSY 7; NRCLP7
id in db is: 295663
inserted disease: 2701 ORPHA Noonan syndrome-like disorder with loose anagen hair
id in db is: 295664
inserted disease: 216900 OMIM #216900 ACHROMATOPSIA 2; ACHM2;;COLORBLINDNESS, TOTAL;;ROD MONOCHROMATISM 2;;ROD MONOCHROMACY 2; RMCH2
id in db is: 295665
inserted disease: 1406 ORPHA Charlie M syndrome
id in db is: 295666
inserted disease: 259750 OMIM OSTEOPOROSIS, JUVENILE
id in db is: 295667
inserted disease: 615837 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 101; DFNB101
id in db is: 295668
inserted disease: 162900 OMIM NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
id in db is: 295669
inserted disease: 577 ORPHA Mucolipidosis type III
id in db is: 295670
inserted disease: 207780 OMIM AREDYLD
id in db is: 295671
inserted disease: 615961 OMIM #615961 ACID-LABILE SUBUNIT DEFICIENCY; ACLSD
id in db is: 295672
inserted disease: 616421 OMIM MYOCLONIC-ATONIC EPILEPSY; MAE
id in db is: 295673
inserted disease: 246900 OMIM #246900 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD;;DLD DEFICIENCY;;E3 DEFICIENCY;;LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO;;MAPLE SYRUP URINE DISEASE, TYPE III
id in db is: 295674
inserted disease: 211890 OMIM %211890 CAMPOMELIA, CUMMING TYPE;;CERVICAL LYMPHOCELE WITH BOWED LONG BONES;;CUMMING SYNDROME
id in db is: 295675
inserted disease: 609404 OMIM #609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4
id in db is: 295676
inserted disease: 99875 ORPHA Ehlers-Danlos syndrome type 7A
id in db is: 295677
inserted disease: 2578 ORPHA Mayer-Rokitansky-Küster-Hauser syndrome type 2
id in db is: 295678
inserted disease: 79333 ORPHA COG7-CDG
id in db is: 295679
inserted disease: 222300 OMIM #222300 WOLFRAM SYNDROME 1; WFS1;;WFS;;DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS; DIDMOAD
id in db is: 295680
inserted disease: 606407 OMIM HYPOTONIA-CYSTINURIA SYNDROME
id in db is: 295681
inserted disease: 611528 OMIM ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
id in db is: 295682
inserted disease: 300831 OMIM #300831 CK SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICALMALFORMATION
id in db is: 295683
inserted disease: 138920 OMIM 138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE
id in db is: 295684
inserted disease: 609070 OMIM HEMOGLOBIN, HIGH OXYGEN SATURATION OF
id in db is: 295685
inserted disease: 607084 OMIM #607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31;;WHIRLER, MOUSE, HOMOLOG OF
id in db is: 295686
inserted disease: 614021 OMIM %614021 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
id in db is: 295687
inserted disease: 252010 OMIM #252010 MITOCHONDRIAL COMPLEX I DEFICIENCY;;NADH:Q(1) OXIDOREDUCTASE DEFICIENCY;;NADH-COENZYME Q REDUCTASE DEFICIENCY;;MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCYOF
id in db is: 295688
inserted disease: 254400 OMIM MYCOSIS FUNGOIDES
id in db is: 295689
inserted disease: 1455 ORPHA Autosomal dominant coarctation of aorta
id in db is: 295690
inserted disease: 614970 OMIM #614970 JOUBERT SYNDROME 20; JBTS20
id in db is: 295691
inserted disease: 207770 OMIM APROSENCEPHALY SYNDROME
id in db is: 295692
inserted disease: 306300 OMIM GRANULOMAS, CONGENITAL CEREBRAL
id in db is: 295693
inserted disease: 615420 OMIM #615420 MYOPIA 22, AUTOSOMAL DOMINANT; MYP22
id in db is: 295694
inserted disease: 83469 ORPHA Desmoplastic small round cell tumor
id in db is: 295695
inserted disease: 126700 OMIM BASAL LAMINAR DRUSEN
id in db is: 295696
inserted disease: 612529 OMIM #612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2;;AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2
id in db is: 295697
inserted disease: 601682 OMIM GLAUCOMA 1, OPEN ANGLE, C
id in db is: 295698
inserted disease: 615042 OMIM #615042 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U;;CDG Iu; CDGIu
id in db is: 295699
inserted disease: 136 ORPHA CADASIL
id in db is: 295700
inserted disease: 300510 OMIM #300510 OVARIAN DYSGENESIS 2; ODG2;;OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;;OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESISPREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED
id in db is: 295701
inserted disease: 614114 OMIM MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2
id in db is: 295702
inserted disease: 612539 OMIM SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42
id in db is: 295703
inserted disease: 612653 OMIM #612653 SPHEROCYTOSIS, TYPE 4; SPH4;;SPHEROCYTOSIS, HEREDITARY, 4; HS4
id in db is: 295704
inserted disease: 193300 OMIM #193300 VON HIPPEL-LINDAU SYNDROME; VHLVON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED
id in db is: 295705
inserted disease: 614929 OMIM %614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7
id in db is: 295706
inserted disease: 192600 OMIM #192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1;;CMH;;VENTRICULAR HYPERTROPHY, HEREDITARY;;ASYMMETRIC SEPTAL HYPERTROPHY; ASH;;HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
id in db is: 295707
inserted disease: 102100 OMIM %102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA;;ROSENTHAL-KLOEPFER SYNDROME
id in db is: 295708
inserted disease: 170 ORPHA Woolly hair
id in db is: 295709
inserted disease: 277300 OMIM SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1
id in db is: 295710
inserted disease: 305620 OMIM FRONTOMETAPHYSEAL DYSPLASIA
id in db is: 295711
inserted disease: 616364 OMIM #616364 MENTAL RETARDATION, AUTOSOMAL DOMINANT 37; MRD37
id in db is: 295712
inserted disease: 192315 OMIM #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA
id in db is: 295713
inserted disease: 764 ORPHA Pyomyositis
id in db is: 295714
inserted disease: 85112 ORPHA Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
id in db is: 295715
inserted disease: 300496 OMIM AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
id in db is: 295716
inserted disease: 821 ORPHA Sotos syndrome
id in db is: 295717
inserted disease: 180550 OMIM #180550 RING DERMOID OF CORNEA; RDC
id in db is: 295718
inserted disease: 616307 OMIM SENIOR-LOKEN SYNDROME 8; SLSN8
id in db is: 295719
inserted disease: 99893 ORPHA ACTH-independent Cushing syndrome
id in db is: 295720
inserted disease: 212400 OMIM CATARACT AND CONGENITAL ICHTHYOSIS
id in db is: 295721
inserted disease: 262875 OMIM PLATELET PROSTACYCLIN RECEPTOR DEFECT
id in db is: 295722
inserted disease: 609808 OMIM HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS
id in db is: 295723
inserted disease: 93388 ORPHA Brachydactyly type A1
id in db is: 295724
inserted disease: 169170 OMIM 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME
id in db is: 295725
inserted disease: 188580 OMIM THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1
id in db is: 295726
inserted disease: 300934 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y
id in db is: 295727
inserted disease: 208230 OMIM ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
id in db is: 295728
inserted disease: 615363 OMIM ESTROGEN RESISTANCE; ESTRR
id in db is: 295729
inserted disease: 160148 ORPHA Cap polyposis
id in db is: 295730
inserted disease: 153630 OMIM MACROGLOSSIA
id in db is: 295731
inserted disease: 104350 OMIM AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
id in db is: 295732
inserted disease: 612356 OMIM HEPARIN COFACTOR II DEFICIENCY
id in db is: 295733
inserted disease: 782 ORPHA Axenfeld-Rieger syndrome
id in db is: 295734
inserted disease: 100675 OMIM ACETAMINOPHEN METABOLISM
id in db is: 295735
inserted disease: 201750 OMIM #201750 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS;ABS1
id in db is: 295736
inserted disease: 609049 OMIM PIERSON SYNDROME
id in db is: 295737
inserted disease: 251700 OMIM MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA,AND DENTAL ANOMALIES
id in db is: 295738
inserted disease: 271200 OMIM SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE
id in db is: 295739
inserted disease: 600376 OMIM TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
id in db is: 295740
inserted disease: 614228 OMIM #614228 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O
id in db is: 295741
inserted disease: 616685 OMIM #616685 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14
id in db is: 295742
inserted disease: 600501 OMIM ABCD SYNDROME
id in db is: 295743
inserted disease: 249600 OMIM MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE
id in db is: 295744
inserted disease: 217500 OMIM CORNEAL DYSTROPHY, BAND-SHAPED
id in db is: 295745
inserted disease: 269800 OMIM 269800 SENILE PLAQUE FORMATION
id in db is: 295746
inserted disease: 606176 OMIM #606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM;;DIABETES MELLITUS, PERMANENT, OF INFANCY; PDMIDIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;;DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES, INCLUDED; DEND,INCLUDED
id in db is: 295747
inserted disease: 222470 OMIM #222470 TRICHOHEPATOENTERIC SYNDROME 1; THES1;;THE SYNDROME;;DIARRHEA, SYNDROMIC;;DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA
id in db is: 295748
inserted disease: 600467 OMIM MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4
id in db is: 295749
inserted disease: 239710 OMIM 239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2;;AFFN DYSOSTOSIS 2; AFFND2;;ACROFRONTOFACIONASAL DYSOSTOSIS WITH GENITOURINARY ANOMALIES;;NAGUIB-RICHIERI-COSTA SYNDROME;;HYPERTELORISM, HYPOSPADIAS, AND POLYSYNDACTYLY SYNDROME
id in db is: 295750
inserted disease: 608967 OMIM #608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A;;AORTIC ANEURYSM, FAMILIAL THORACIC 5; AAT5
id in db is: 295751
inserted disease: 610427 OMIM #610427 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD;;NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY; CSNB2B,FORMERLY;;NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE,FORMERLY
id in db is: 295752
inserted disease: 132990 OMIM ERYTHEMA NODOSUM, FAMILIAL
id in db is: 295753
inserted disease: 608390 OMIM MYOTONIA, POTASSIUM-AGGRAVATED
id in db is: 295754
inserted disease: 613341 OMIM #613341 LEBER CONGENITAL AMAUROSIS 14; LCA14RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED;;RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED
id in db is: 295755
inserted disease: 214980 OMIM CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE
id in db is: 295756
inserted disease: 125000 OMIM DEAFNESS, UNILATERAL
id in db is: 295757
inserted disease: 603383 OMIM GLAUCOMA 1, OPEN ANGLE, F; GLC1F
id in db is: 295758
inserted disease: 606394 OMIM #606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6;;MODY, TYPE 6
id in db is: 295759
inserted disease: 144755 OMIM HYPEROSTOSIS CRANIALIS INTERNA
id in db is: 295760
inserted disease: 180105 OMIM RETINITIS PIGMENTOSA 10; RP10
id in db is: 295761
inserted disease: 614284 OMIM #614284 STICKLER SYNDROME, TYPE V; STL5
id in db is: 295762
inserted disease: 85193 ORPHA Idiopathic juvenile osteoporosis
id in db is: 295763
inserted disease: 1658 ORPHA Absence of fingerprints-congenital milia syndrome
id in db is: 295764
inserted disease: 614756 OMIM CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR
id in db is: 295765
inserted disease: 314050 OMIM #314050 THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT;;THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCEDGLOBIN SYNTHESIS
id in db is: 295766
inserted disease: 128950 OMIM EARLOBE CREASE
id in db is: 295767
inserted disease: 1487 ORPHA Cooks syndrome
id in db is: 295768
inserted disease: 93307 ORPHA Multiple epiphyseal dysplasia type 4
id in db is: 295769
inserted disease: 3448 ORPHA Weaver-Williams syndrome
id in db is: 295770
inserted disease: 155700 OMIM MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR
id in db is: 295771
inserted disease: 557000 OMIM #557000 PEARSON MARROW-PANCREAS SYNDROME;;SIDEROBLASTIC ANEMIA WITH MARROW CELL VACUOLIZATION AND EXOCRINE PANCREATICDYSFUNCTION
id in db is: 295772
inserted disease: 609968 OMIM HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5
id in db is: 295773
inserted disease: 116800 OMIM #116800 CATARACT, LAMELLAR;;CATARACT, ZONULAR;;PERINUCLEAR CATARACTCATARACT, MARNER TYPE, INCLUDED; CAM, INCLUDED;;CTM, INCLUDED
id in db is: 295774
inserted disease: 1349 ORPHA Maternally-inherited cardiomyopathy and hearing loss
id in db is: 295775
inserted disease: 608220 OMIM %608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25;;DISC HERNIATION WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
id in db is: 295776
inserted disease: 602398 OMIM #602398 DESMOSTEROLOSIS
id in db is: 295777
inserted disease: 50918 ORPHA Kikuchi-Fujimoto disease
id in db is: 295778
inserted disease: 178900 OMIM PUPILLARY MEMBRANE, PERSISTENCE OF
id in db is: 295779
inserted disease: 610758 OMIM #610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
id in db is: 295780
inserted disease: 314389 ORPHA Xq12-q13.3 duplication syndrome
id in db is: 295781
inserted disease: 112250 OMIM DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH
id in db is: 295782
inserted disease: 95714 ORPHA Primary congenital hypothyroidism without thyroid developmental anomaly
id in db is: 295783
inserted disease: 165600 OMIM ORBITAL MARGIN, HYPOPLASIA OF
id in db is: 295784
inserted disease: 600146 OMIM SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE
id in db is: 295785
inserted disease: 170400 OMIM #170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1;;HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
id in db is: 295786
inserted disease: 614294 OMIM CHROMOSOME 15q25 DELETION SYNDROME
id in db is: 295787
inserted disease: 615674 OMIM %615674 DOWLING-DEGOS DISEASE 3; DDD3
id in db is: 295788
inserted disease: 616100 OMIM AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5
id in db is: 295789
inserted disease: 613801 OMIM #613801 RETINITIS PIGMENTOSA 40; RP40
id in db is: 295790
inserted disease: 613424 OMIM #613424 CARDIOMYOPATHY, DILATED, 1R; CMD1RLEFT VENTRICULAR NONCOMPACTION 4, INCLUDED; LVNC4, INCLUDED
id in db is: 295791
inserted disease: 605627 OMIM %605627 CEREBROOCULONASAL SYNDROME
id in db is: 295792
inserted disease: 160500 OMIM #160500 MYOPATHY, DISTAL, 1; MPD1;;MYOPATHY, LATE DISTAL HEREDITARY;;LAING DISTAL MYOPATHY;;MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT
id in db is: 295793
inserted disease: 238320 OMIM HYPERGONADOTROPIC HYPOGONADISM
id in db is: 295794
inserted disease: 609647 OMIM DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 46
id in db is: 295795
inserted disease: 613908 OMIM #613908 SPINOCEREBELLAR ATAXIA 35; SCA35
id in db is: 295796
inserted disease: 99688 ORPHA Dermotrichic syndrome
id in db is: 295797
inserted disease: 158580 OMIM #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY
id in db is: 295798
inserted disease: 614673 OMIM #614673 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8
id in db is: 295799
inserted disease: 261211 ORPHA 16p11.2p12.2 microdeletion syndrome
id in db is: 295800
inserted disease: 177990 OMIM PTERYGIUM COLLI, ISOLATED
id in db is: 295801
inserted disease: 2098 ORPHA Acromesomelic dysplasia, Grebe type
id in db is: 295802
inserted disease: 123540 OMIM CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY
id in db is: 295803
inserted disease: 607498 OMIM MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3
id in db is: 295804
inserted disease: 614435 OMIM #614435 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2
id in db is: 295805
inserted disease: 251240 OMIM MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA
id in db is: 295806
inserted disease: 269880 OMIM SHORT SYNDROME
id in db is: 295807
inserted disease: 613229 OMIM TRICHOTILLOMANIA; TTM
id in db is: 295808
inserted disease: 226950 OMIM EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS
id in db is: 295809
inserted disease: 616099 OMIM PALMOPLANTAR KERATODERMA AND WOOLLY HAIR; PPKWH
id in db is: 295810
inserted disease: 221790 OMIM DERMATOLEUKODYSTROPHY
id in db is: 295811
inserted disease: 612423 OMIM #612423 PREKALLIKREIN DEFICIENCY;;PKK DEFICIENCY;;FLETCHER FACTOR DEFICIENCY
id in db is: 295812
inserted disease: 132810 OMIM EPOXIDE HYDROLASE 1, MICROSOMAL
id in db is: 295813
inserted disease: 613652 OMIM #613652 C1q DEFICIENCY; C1QD
id in db is: 295814
inserted disease: 264090 OMIM %264090 PROGEROID SYNDROME, NEONATAL;;WIEDEMANN-RAUTENSTRAUCH SYNDROME
id in db is: 295815
inserted disease: 85277 ORPHA X-linked intellectual disability, Cantagrel type
id in db is: 295816
inserted disease: 324708 ORPHA ABeta amyloidosis, Iowa type
id in db is: 295817
inserted disease: 209981 ORPHA IRIDA syndrome
id in db is: 295818
inserted disease: 530 ORPHA Lipoid proteinosis
id in db is: 295819
inserted disease: 601076 OMIM MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACICSOMITE ANOMALIES
id in db is: 295820
inserted disease: 82004 ORPHA Ehlers-Danlos syndrome with periventricular heterotopia
id in db is: 295821
inserted disease: 615995 OMIM BARDET-BIEDL SYNDROME 18; BBS18
id in db is: 295822
inserted disease: 3144 ORPHA Schneckenbecken dysplasia
id in db is: 295823
inserted disease: 187100 OMIM 187100 TEETH, SUPERNUMERARY
id in db is: 295824
inserted disease: 170995 OMIM *170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3;;PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70
id in db is: 295825
inserted disease: 260600 OMIM #260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3
id in db is: 295826
inserted disease: 314034 ORPHA 7p22.1 microduplication syndrome
id in db is: 295827
inserted disease: 615066 OMIM #615066 OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 ;;OI, TYPE XIV
id in db is: 295828
inserted disease: 600994 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5
id in db is: 295829
inserted disease: 300029 OMIM #300029 RETINITIS PIGMENTOSA 3; RP3;;RETINITIS PIGMENTOSA 15; RP15;;CONE-ROD DEGENERATION, X-LINKED;;CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN
id in db is: 295830
inserted disease: 612126 OMIM #612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2;;PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;;PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;DYSTONIA 18; DYT18
id in db is: 295831
inserted disease: 293978 ORPHA Deficiency in anterior pituitary function-variable immunodeficiency syndrome
id in db is: 295832
inserted disease: 216820 OMIM COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
id in db is: 295833
inserted disease: 254509 ORPHA Iatrogenic botulism
id in db is: 295834
inserted disease: 99812 ORPHA LIG4 syndrome
id in db is: 295835
inserted disease: 212135 OMIM 212135 CARDIOSKELETAL SYNDROME, KUWAITI TYPE
id in db is: 295836
inserted disease: 251250 OMIM MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES
id in db is: 295837
inserted disease: 278780 OMIM XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
id in db is: 295838
inserted disease: 2616 ORPHA 3M syndrome
id in db is: 295839
inserted disease: 269 ORPHA Facioscapulohumeral dystrophy
id in db is: 295840
inserted disease: 607060 OMIM PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8
id in db is: 295841
inserted disease: 168563 ORPHA 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
id in db is: 295842
inserted disease: 120450 OMIM COMEDONES, FAMILIAL DYSKERATOTIC
id in db is: 295843
inserted disease: 602134 OMIM TREMOR, HEREDITARY ESSENTIAL, 2
id in db is: 295844
inserted disease: 612069 OMIM #612069 AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS10FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,INCLUDED;;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;;FTLD-TDP, TARDBP-RELATED, INCLUDED
id in db is: 295845
inserted disease: 187800 OMIM #187800 BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16;;GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT;;THROMBASTHENIA OF GLANZMANN AND NAEGELI, AUTOSOMAL DOMINANT
id in db is: 295846
inserted disease: 200980 OMIM 200980 ACRORENAL-MANDIBULAR SYNDROME;;ACRORENAL-UTERINE-MANDIBULAR SYNDROME; ARUMS;;SPLIT-HAND AND SPLIT-FOOT WITH MANDIBULAR HYPOPLASIA
id in db is: 295847
inserted disease: 276422 ORPHA 10q22.3q23.3 microduplication syndrome
id in db is: 295848
inserted disease: 603546 OMIM #603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE
id in db is: 295849
inserted disease: 608624 OMIM 608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA
id in db is: 295850
inserted disease: 616455 OMIM ZIMMERMANN-LABAND SYNDROME 2; ZLS2
id in db is: 295851
inserted disease: 312500 OMIM RETICULOENDOTHELIOSIS, X-LINKED
id in db is: 295852
inserted disease: 631 ORPHA Non-acquired isolated growth hormone deficiency
id in db is: 295853
inserted disease: 99742 ORPHA Amish lethal microcephaly
id in db is: 295854
inserted disease: 616270 OMIM #616270 AMELOGENESIS IMPERFECTA, TYPE IF; AI1F ;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF; AI1F
id in db is: 295855
inserted disease: 143890 OMIM HYPERCHOLESTEROLEMIA, FAMILIAL
id in db is: 295856
inserted disease: 600204 OMIM EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
id in db is: 295857
inserted disease: 3434 ORPHA MMEP syndrome
id in db is: 295858
inserted disease: 613837 OMIM #613837 LEBER CONGENITAL AMAUROSIS 11; LCA11
id in db is: 295859
inserted disease: 1297 ORPHA Branchio-oculo-facial syndrome
id in db is: 295860
inserted disease: 388 ORPHA Hirschsprung disease
id in db is: 295861
inserted disease: 614457 OMIM #614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR
id in db is: 295862
inserted disease: 241800 OMIM 241800 HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED
id in db is: 295863
inserted disease: 616216 OMIM THROMBOCYTOPENIA 5; THC5
id in db is: 295864
inserted disease: 603373 OMIM #603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL
id in db is: 295865
inserted disease: 75373 ORPHA Progressive bifocal chorioretinal atrophy
id in db is: 295866
inserted disease: 250790 OMIM #250790 METHEMOGLOBINEMIA TYPE IV;;METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
id in db is: 295867
inserted disease: 307000 OMIM HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS
id in db is: 295868
inserted disease: 613068 OMIM NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
id in db is: 295869
inserted disease: 177200 OMIM LIDDLE SYNDROME
id in db is: 295870
inserted disease: 248910 OMIM CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA
id in db is: 295871
inserted disease: 227260 OMIM FACIAL ECTODERMAL DYSPLASIA
id in db is: 295872
inserted disease: 615789 OMIM #615789 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
id in db is: 295873
inserted disease: 3193 ORPHA Supravalvular aortic stenosis
id in db is: 295874
inserted disease: 112240 OMIM #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES
id in db is: 295875
inserted disease: 612447 OMIM SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
id in db is: 295876
inserted disease: 245200 OMIM #245200 KRABBE DISEASE;;GLOBOID CELL LEUKODYSTROPHY; GLD; GCL;;GLOBOID CELL LEUKOENCEPHALOPATHY;;GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY;;GALACTOCEREBROSIDASE DEFICIENCY;;GALC DEFICIENCY
id in db is: 295877
inserted disease: 1178 ORPHA Ataxia-tapetoretinal degeneration syndrome
id in db is: 295878
inserted disease: 46488 ORPHA Linear IgA dermatosis
id in db is: 295879
inserted disease: 613721 OMIM #613721 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11
id in db is: 295880
inserted disease: 193003 OMIM %193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4;;VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS
id in db is: 295881
inserted disease: 273900 OMIM THROMBOCYTOPENIA 3
id in db is: 295882
inserted disease: 258040 OMIM 258040 OEIS COMPLEX;;OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS
id in db is: 295883
inserted disease: 615731 OMIM #615731 NEMALINE MYOPATHY 9; NEM9
id in db is: 295884
inserted disease: 255800 OMIM #255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1;;SCHWARTZ-JAMPEL SYNDROME; SJS;;MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIALABNORMALITIES;;SCHWARTZ-JAMPEL-ABERFELD SYNDROME;;SJA SYNDROME;;CHONDRODYSTROPHIC MYOTONIA
id in db is: 295885
inserted disease: 609197 OMIM %609197 GLUCOCORTICOID DEFICIENCY 3; GCCD3;;FAMILIAL GLUCOCORTICOID DEFICIENCY 3; FGD3;;GLUCOCORTICOID DEFICIENCY 2, FORMERLY; GCCD2, FORMERLY
id in db is: 295886
inserted disease: 151610 OMIM LEVATOR-MEDIAL RECTUS SYNKINESIS
id in db is: 295887
inserted disease: 1759 ORPHA Thoraco-abdominal enteric duplication
id in db is: 295888
inserted disease: 609039 OMIM NARCOLEPSY 3; NRCLP3
id in db is: 295889
inserted disease: 3074 ORPHA Intellectual disability-short stature-hypertelorism syndrome
id in db is: 295890
inserted disease: 89937 ORPHA Autosomal dominant hypophosphatemic rickets
id in db is: 295891
inserted disease: 263300 OMIM #263300 POLYCYTHEMIA VERA;;PV;;POLYCYTHEMIA RUBRA VERA; PRV
id in db is: 295892
inserted disease: 117 ORPHA Behçet disease
id in db is: 295893
inserted disease: 607841 OMIM #607841 DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48
id in db is: 295894
inserted disease: 614376 OMIM #614376 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5;;ASPHYXIATING THORACIC DYSTROPHY 5; ATD5
id in db is: 295895
inserted disease: 1059 ORPHA Blue rubber bleb nevus
id in db is: 295896
inserted disease: 119500 OMIM POPLITEAL PTERYGIUM SYNDROME
id in db is: 295897
inserted disease: 314900 OMIM XM SYSTEM
id in db is: 295898
inserted disease: 609015 OMIM #609015 TRIFUNCTIONAL PROTEIN DEFICIENCY;;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCYTRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED
id in db is: 295899
inserted disease: 613458 OMIM CHROMOSOME 16p13.3 DUPLICATION SYNDROME
id in db is: 295900
inserted disease: 615592 OMIM #615592 IMMUNODEFICIENCY 15; IMD15
id in db is: 295901
inserted disease: 610023 OMIM 610023 BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS
id in db is: 295902
inserted disease: 614608 OMIM #614608 MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15
id in db is: 295903
inserted disease: 311350 OMIM OUABAIN RESISTANCE
id in db is: 295904
inserted disease: 341 ORPHA Viral hemorrhagic fever
id in db is: 295905
inserted disease: 611560 OMIM #611560 JOUBERT SYNDROME 7; JBTS7
id in db is: 295906
inserted disease: 73256 ORPHA Central neurocytoma
id in db is: 295907
inserted disease: 148360 OMIM 148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY;;AXONAL NEUROPATHY WITH PALMOPLANTAR KERATODERMA;;CHARCOT-MARIE-TOOTH DISEASE WITH PALMOPLANTAR KERATODERMA AND NAILDYSTROPHY
id in db is: 295908
inserted disease: 106990 OMIM 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY
id in db is: 295909
inserted disease: 2749 ORPHA Oromandibular-limb hypogenesis syndrome
id in db is: 295910
inserted disease: 1216 ORPHA Autosomal dominant congenital benign spinal muscular atrophy
id in db is: 295911
inserted disease: 1660 ORPHA Dermo-odonto dysplasia
id in db is: 295912
inserted disease: 611584 OMIM #611584 WAARDENBURG SYNDROME, TYPE 2E; WS2E;;HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUTHYPOPIGMENTATION;;WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT;;WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT;;WAARDENBURG SYNDROME, TYPE IIE
id in db is: 295913
inserted disease: 609944 OMIM ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES
id in db is: 295914
inserted disease: 2017 ORPHA Sternal cleft
id in db is: 295915
inserted disease: 606842 OMIM CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
id in db is: 295916
inserted disease: 1878 ORPHA Autosomal recessive limb-girdle muscular dystrophy type 2H
id in db is: 295917
inserted disease: 607578 OMIM BREATH-HOLDING SPELLS
id in db is: 295918
inserted disease: 615468 OMIM #615468 IMMUNODEFICIENCY 12; IMD12
id in db is: 295919
inserted disease: 609255 OMIM FEBRILE SEIZURES, FAMILIAL, 5; FEB5
id in db is: 295920
inserted disease: 179600 OMIM RAYNAUD DISEASE
id in db is: 295921
inserted disease: 606579 OMIM #606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1;VAMAS1;;VITILIGO; VTLG;;SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED; SLEV1
id in db is: 295922
inserted disease: 605019 OMIM #605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2;;HYPOLIPIDEMIA, FAMILIAL, COMBINED
id in db is: 295923
inserted disease: 614055 OMIM ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D
id in db is: 295924
inserted disease: 148820 OMIM #148820 WAARDENBURG SYNDROME, TYPE 3; WS3;;WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES;;WAARDENBURG SYNDROME, TYPE III;;KLEIN-WAARDENBURG SYNDROME
id in db is: 295925
inserted disease: 106750 OMIM ANONYCHIA WITH FLEXURAL PIGMENTATION
id in db is: 295926
inserted disease: 512 ORPHA Metachromatic leukodystrophy
id in db is: 295927
inserted disease: 701 ORPHA Alopecia universalis
id in db is: 295928
inserted disease: 169000 OMIM %169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF
id in db is: 295929
inserted disease: 107900 OMIM ARMS, MALFORMATION OF
id in db is: 295930
inserted disease: 300486 OMIM #300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVEFACIAL APPEARANCE;;MENTAL RETARDATION, X-LINKED 60, FORMERLY; MRX60, FORMERLY
id in db is: 295931
inserted disease: 307700 OMIM HYPOPARATHYROIDISM, X-LINKED
id in db is: 295932
inserted disease: 171100 OMIM PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN
id in db is: 295933
inserted disease: 1573 ORPHA Hypotrichosis with juvenile macular degeneration
id in db is: 295934
inserted disease: 163937 ORPHA X-linked intellectual disability, Najm type
id in db is: 295935
inserted disease: 600089 OMIM PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
id in db is: 295936
inserted disease: 1027 ORPHA Autosomal recessive amelia
id in db is: 295937
inserted disease: 616398 OMIM DYSTONIA 26, MYOCLONIC; DYT26
id in db is: 295938
inserted disease: 184400 OMIM SPRENGEL DEFORMITY
id in db is: 295939
inserted disease: 2720 ORPHA Oculocerebral hypopigmentation syndrome, Preus type
id in db is: 295940
inserted disease: 102800 OMIM ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO
id in db is: 295941
inserted disease: 233600 OMIM GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY
id in db is: 295942
inserted disease: 615147 OMIM #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS
id in db is: 295943
inserted disease: 2325 ORPHA Epidermolysis bullosa simplex with anodontia/hypodontia
id in db is: 295944
inserted disease: 255100 OMIM MYOPATHY WITH ABNORMAL LIPID METABOLISM
id in db is: 295945
inserted disease: 616479 OMIM PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2
id in db is: 295946
inserted disease: 1422 ORPHA Chondrodysplasia-disorder of sex development syndrome
id in db is: 295947
inserted disease: 66630 ORPHA Congenital pseudoarthrosis of clavicle
id in db is: 295948
inserted disease: 492 ORPHA Proliferating trichilemmal cyst
id in db is: 295949
inserted disease: 609460 OMIM GOLDBERG-SHPRINTZEN SYNDROME; GOSHS
id in db is: 295950
inserted disease: 174500 OMIM #174500 POLYDACTYLY, PREAXIAL II; PPD2;;POLYDACTYLY OF TRIPHALANGEAL THUMB;;TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROMETRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED;;TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, INCLUDED;;TPT-PS SYNDROME, INCLUDED;;TRIPHALANGEAL THUMB, INCLUDED; TPT, INCLUDED
id in db is: 295951
inserted disease: 270500 OMIM 270500 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION
id in db is: 295952
inserted disease: 300958 OMIM MENTAL RETARDATION, X-LINKED 102; MRX102
id in db is: 295953
inserted disease: 257350 OMIM NUCHAL BLEB, FAMILIAL
id in db is: 295954
inserted disease: 820 ORPHA Sneddon syndrome
id in db is: 295955
inserted disease: 615619 OMIM CHOLANGIOCARCINOMA
id in db is: 295956
inserted disease: 142330 OMIM HEPATIC ADENOMAS, FAMILIAL
id in db is: 295957
inserted disease: 615387 OMIM #615387 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY;;IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT; IMD7
id in db is: 295958
inserted disease: 678 ORPHA Papillon-Lefèvre syndrome
id in db is: 295959
inserted disease: 272750 OMIM TAY-SACHS DISEASE, AB VARIANT
id in db is: 295960
inserted disease: 133020 OMIM #133020 ERYTHERMALGIA, PRIMARY;;ERYTHROMELALGIA, PRIMARY;;ERYTHROMELALGIA, FAMILIALNEUROPATHY, SMALL FIBER, INCLUDED; SFNP, INCLUDED
id in db is: 295961
inserted disease: 616138 OMIM PERRAULT SYNDROME 5; PRLTS5
id in db is: 295962
inserted disease: 602401 OMIM %602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8
id in db is: 295963
inserted disease: 83317 ORPHA Scrub typhus
id in db is: 295964
inserted disease: 240400 OMIM HYPOASCORBEMIA
id in db is: 295965
inserted disease: 138300 OMIM GLUTATHIONE REDUCTASE
id in db is: 295966
inserted disease: 613703 OMIM MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
id in db is: 295967
inserted disease: 616202 OMIM CEREBELLOFACIODENTAL SYNDROME; CFDS
id in db is: 295968
inserted disease: 613285 OMIM #613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
id in db is: 295969
inserted disease: 2815 ORPHA Spastic paraparesis-deafness syndrome
id in db is: 295970
inserted disease: 142470 OMIM FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2
id in db is: 295971
inserted disease: 2535 ORPHA Microcornea-corectopia-macular hypoplasia syndrome
id in db is: 295972
inserted disease: 66625 ORPHA Cerebro-oculo-nasal syndrome
id in db is: 295973
inserted disease: 262650 OMIM PITUITARY DWARFISM IV
id in db is: 295974
inserted disease: 607721 OMIM #607721 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR; NSLH;;TOSTI SYNDROME
id in db is: 295975
inserted disease: 93406 ORPHA Syndactyly type 5
id in db is: 295976
inserted disease: 614350 OMIM #614350 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
id in db is: 295977
inserted disease: 616282 OMIM SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT; SPG73
id in db is: 295978
inserted disease: 90674 ORPHA Isolated thyroid-stimulating hormone deficiency
id in db is: 295979
inserted disease: 226440 OMIM 226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTALRETARDATION
id in db is: 295980
inserted disease: 608264 OMIM DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40
id in db is: 295981
inserted disease: 608612 OMIM MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB
id in db is: 295982
inserted disease: 612394 OMIM #612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS;;LYSYL HYDROXYLASE 3 DEFICIENCY;;LH3 DEFICIENCY
id in db is: 295983
inserted disease: 123150 OMIM #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
id in db is: 295984
inserted disease: 217030 OMIM COMPLEMENT FACTOR I
id in db is: 295985
inserted disease: 95496 ORPHA Pituitary stalk interruption syndrome
id in db is: 295986
inserted disease: 611 ORPHA Inclusion body myositis
id in db is: 295987
inserted disease: 158673 ORPHA Acral dystrophic epidermolysis bullosa
id in db is: 295988
inserted disease: 610706 OMIM #610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA;;DEAFNESS, CONGENITAL, WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA;;DEAFNESS WITH LAMM
id in db is: 295989
inserted disease: 277950 OMIM #277950 WINCHESTER SYNDROME; WNCHRS
id in db is: 295990
inserted disease: 125540 OMIM DERMAL RIDGES, PATTERNLESS
id in db is: 295991
inserted disease: 192050 OMIM 192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERALHEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS
id in db is: 295992
inserted disease: 261311 ORPHA 20q13.33 microdeletion syndrome
id in db is: 295993
inserted disease: 235700 OMIM #235700 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
id in db is: 295994
inserted disease: 608762 OMIM EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3
id in db is: 295995
inserted disease: 139474 ORPHA 17q11.2 microduplication syndrome
id in db is: 295996
inserted disease: 609115 OMIM LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G
id in db is: 295997
inserted disease: 253240 OMIM %253240 MUCUS INSPISSATION OF RESPIRATORY TRACT
id in db is: 295998
inserted disease: 231580 ORPHA Primary unilateral adrenal hyperplasia
id in db is: 295999
inserted disease: 614286 OMIM #614286 MYELODYSPLASTIC SYNDROME; MDS;;MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED
id in db is: 296000
inserted disease: 3268 ORPHA Radioulnar synostosis-microcephaly-scoliosis syndrome
id in db is: 296001
inserted disease: 1802 ORPHA Ghosal hematodiaphyseal dysplasia
id in db is: 296002
inserted disease: 191480 OMIM %191480 UNCOMBABLE HAIR SYNDROME;;PILI TRIANGULI ET CANALICULI
id in db is: 296003
inserted disease: 614200 OMIM %614200 BLEEDING DISORDER, PLATELET-TYPE, 9; BDPLT9;;GLYCOPROTEIN Ia DEFICIENCY;;GP Ia DEFICIENCY;;COLLAGEN PLATELET RECEPTOR DEFICIENCY
id in db is: 296004
inserted disease: 199318 ORPHA 15q13.3 microdeletion syndrome
id in db is: 296005
inserted disease: 314580 OMIM #314580 WIEACKER-WOLFF SYNDROME; WRWF;;WIEACKER SYNDROME;;CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIA;;APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHY
id in db is: 296006
inserted disease: 277990 OMIM INTELLECTUAL DISABILITY, WOLFF TYPE
id in db is: 296007
inserted disease: 85435 ORPHA Juvenile rheumatoid factor-positive polyarthritis
id in db is: 296008
inserted disease: 189700 OMIM %189700 TORUS PALATINUS AND TORUS MANDIBULARIS
id in db is: 296009
inserted disease: 2197 ORPHA Idiopathic hypercalciuria
id in db is: 296010
inserted disease: 231100 OMIM HEMOCHROMATOSIS, NEONATAL
id in db is: 296011
inserted disease: 96253 ORPHA Cushing disease
id in db is: 296012
inserted disease: 604403 OMIM #604403 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2;;GEFS+, TYPE 2; GEFS+2FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED; FEB3A, INCLUDED
id in db is: 296013
inserted disease: 613853 OMIM #613853 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2; DTGA2
id in db is: 296014
inserted disease: 300498 OMIM #300498 MENTAL RETARDATION, X-LINKED 45; MRX45
id in db is: 296015
inserted disease: 222 ORPHA Erosive pustular dermatosis of the scalp
id in db is: 296016
inserted disease: 608154 OMIM %608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES
id in db is: 296017
inserted disease: 440 ORPHA Familial hypospadias
id in db is: 296018
inserted disease: 167600 OMIM PALMARIS LONGUS MUSCLE, ABSENCE OF
id in db is: 296019
inserted disease: 1355 ORPHA Congenital heart defect-round face-developmental delay syndrome
id in db is: 296020
inserted disease: 615287 OMIM #615287 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13; MDDGA13;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
id in db is: 296021
inserted disease: 606766 OMIM #606766 SPERMATOGENIC FAILURE 3; SPGF3
id in db is: 296022
inserted disease: 615745 OMIM ATRIAL STANDSTILL 2; ATRST2
id in db is: 296023
inserted disease: 1949 ORPHA Benign familial neonatal epilepsy
id in db is: 296024
inserted disease: 268500 OMIM 268500 ROWLEY-ROSENBERG SYNDROME;;GROWTH RETARDATION, PULMONARY HYPERTENSION, AND AMINO ACIDURIA
id in db is: 296025
inserted disease: 613205 OMIM #613205 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED;;MDCL
id in db is: 296026
inserted disease: 253200 OMIM #253200 MUCOPOLYSACCHARIDOSIS TYPE VI; MPS6;;MPS VI;;MAROTEAUX-LAMY SYNDROME;;ARYLSULFATASE B DEFICIENCY;;ARSB DEFICIENCY;;N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
id in db is: 296027
inserted disease: 147750 OMIM IVIC SYNDROME
id in db is: 296028
inserted disease: 612702 OMIM #612702 HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6
id in db is: 296029
inserted disease: 125500 OMIM DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
id in db is: 296030
inserted disease: 614390 OMIM #614390 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2
id in db is: 296031
inserted disease: 132450 OMIM #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD
id in db is: 296032
inserted disease: 324575 ORPHA Hyperinsulinism due to HNF1A deficiency
id in db is: 296033
inserted disease: 168601 OMIM PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1
id in db is: 296034
inserted disease: 612852 OMIM #612852 OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS;OMPP;;INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY; DIRA
id in db is: 296035
inserted disease: 260150 OMIM 260150 PALANT CLEFT PALATE SYNDROME
id in db is: 296036
inserted disease: 50810 ORPHA Microlissencephaly-micromelia syndrome
id in db is: 296037
inserted disease: 235740 OMIM HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS
id in db is: 296038
inserted disease: 604370 OMIM BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
id in db is: 296039
inserted disease: 614744 OMIM #614744 FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3
id in db is: 296040
inserted disease: 280000 OMIM #280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTALRETARDATION, AND EAR ANOMALIES SYNDROME; CHIME;;CHIME SYNDROME;;ZUNICH NEUROECTODERMAL SYNDROME
id in db is: 296041
inserted disease: 174400 OMIM POLYDACTYLY, PREAXIAL I
id in db is: 296042
inserted disease: 615458 OMIM #615458 MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS; MMCAT
id in db is: 296043
inserted disease: 601596 OMIM CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
id in db is: 296044
inserted disease: 2368 ORPHA Gastroschisis
id in db is: 296045
inserted disease: 614894 OMIM MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE
id in db is: 296046
inserted disease: 608768 OMIM #608768 SPINOCEREBELLAR ATAXIA 8; SCA8
id in db is: 296047
inserted disease: 612073 OMIM #612073 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH ORWITHOUT METHYLMALONIC ACIDURIA); MTDPS5;;MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITHOR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED
id in db is: 296048
inserted disease: 583 ORPHA Mucopolysaccharidosis type 6
id in db is: 296049
inserted disease: 610181 OMIM AICARDI-GOUTIERES SYNDROME 2; AGS2
id in db is: 296050
inserted disease: 217340 ORPHA 17q21.31 microduplication  syndrome
id in db is: 296051
inserted disease: 615993 OMIM BARDET-BIEDL SYNDROME 16; BBS16
id in db is: 296052
inserted disease: 116200 OMIM CATARACT, ZONULAR PULVERULENT 1
id in db is: 296053
inserted disease: 600268 OMIM %600268 OCULOECTODERMAL SYNDROME; OES;;APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
id in db is: 296054
inserted disease: 1806 ORPHA Ectodermal dysplasia-blindness syndrome
id in db is: 296055
inserted disease: 614561 OMIM %614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC;;LABRUNE SYNDROME
id in db is: 296056
inserted disease: 3121 ORPHA Ruvalcaba syndrome
id in db is: 296057
inserted disease: 259200 OMIM BLOUNT DISEASE, ADOLESCENT
id in db is: 296058
inserted disease: 329329 ORPHA Autosomal recessive frontotemporal pachygyria
id in db is: 296059
inserted disease: 2003 ORPHA Cleft lip/palate-deafness-sacral lipoma syndrome
id in db is: 296060
inserted disease: 610535 OMIM GLAUCOMA 1, OPEN ANGLE, M
id in db is: 296061
inserted disease: 615889 OMIM LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP
id in db is: 296062
inserted disease: 610202 OMIM #610202 CATARACT 21, MULTIPLE TYPES; CTRCT21;;CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;;CATARACT, CONGENITAL, CERULEAN TYPE, 4; CCA4;;CATARACT, PULVERULENT, JUVENILE-ONSET
id in db is: 296063
inserted disease: 309620 OMIM %309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD;;CHRISTIAN SYNDROME; CHRS
id in db is: 296064
inserted disease: 88637 ORPHA Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
id in db is: 296065
inserted disease: 615895 OMIM POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1
id in db is: 296066
inserted disease: 602722 OMIM #602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR;;RTA, DISTAL, AUTOSOMAL RECESSIVE;;RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARINGRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSETSENSORINEURAL HEARING LOSS, INCLUDED
id in db is: 296067
inserted disease: 613428 OMIM #613428 RETINITIS PIGMENTOSA 54; RP54
id in db is: 296068
inserted disease: 391411 ORPHA Atypical juvenile parkinsonism
id in db is: 296069
inserted disease: 613074 OMIM DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50
id in db is: 296070
inserted disease: 98798 ORPHA Isochromosomy Yq
id in db is: 296071
inserted disease: 108720 OMIM ATELOSTEOGENESIS, TYPE I; AO1
id in db is: 296072
inserted disease: 1041 ORPHA Hydrops fetalis
id in db is: 296073
inserted disease: 587 ORPHA Muir-Torre syndrome
id in db is: 296074
inserted disease: 90033 ORPHA Autoimmune hemolytic anemia, warm type
id in db is: 296075
inserted disease: 616459 OMIM AL-RAQAD SYNDROME; ARS
id in db is: 296076
inserted disease: 300705 OMIM #300705 MENTAL RETARDATION, X-LINKED 17; MRX17;;MENTAL RETARDATION, X-LINKED 31; MRX31
id in db is: 296077
inserted disease: 616248 OMIM LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6
id in db is: 296078
inserted disease: 261349 ORPHA 2p15p16.1 microdeletion syndrome
id in db is: 296079
inserted disease: 120330 OMIM #120330 PAPILLORENAL SYNDROME; PAPRS;;RENAL-COLOBOMA SYNDROME;;OPTIC NERVE COLOBOMA WITH RENAL DISEASE;;COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE;;OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES;;RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES;;CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OCULAR ABNORMALITIES;;CAKUT WITH OCULAR ABNORMALITIES
id in db is: 296080
inserted disease: 3230 ORPHA Deafness-oligodontia syndrome
id in db is: 296081
inserted disease: 613670 OMIM #613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES
id in db is: 296082
inserted disease: 9 ORPHA Tetrasomy X
id in db is: 296083
inserted disease: 200950 OMIM ACID PHOSPHATASE DEFICIENCY
id in db is: 296084
inserted disease: 220400 OMIM JERVELL AND LANGE-NIELSEN SYNDROME
id in db is: 296085
inserted disease: 610208 OMIM MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10
id in db is: 296086
inserted disease: 93160 ORPHA Hypocalcemic vitamin D-resistant rickets
id in db is: 296087
inserted disease: 141750 OMIM #141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE;;ATR-16 SYNDROME;;ATR, DELETION-TYPE;;HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR;;MENTAL RETARDATION WITH HEMOGLOBIN H;;CHROMOSOME 16p DELETION SYNDROME
id in db is: 296088
inserted disease: 228900 OMIM #228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY;;DU PAN SYNDROME
id in db is: 296089
inserted disease: 2050 ORPHA Cole-Carpenter syndrome
id in db is: 296090
inserted disease: 1259 ORPHA Blepharoptosis-myopia-ectopia lentis syndrome
id in db is: 296091
inserted disease: 145290 OMIM HYPERREFLEXIA
id in db is: 296092
inserted disease: 187350 OMIM TELECANTHUS
id in db is: 296093
inserted disease: 612079 OMIM ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME; ANES
id in db is: 296094
inserted disease: 615705 OMIM #615705 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15;;SALIH ATAXIA
id in db is: 296095
inserted disease: 615351 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14
id in db is: 296096
inserted disease: 300895 OMIM #300895 OHDO SYNDROME, X-LINKED; OHDOX;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNERTYPE
id in db is: 296097
inserted disease: 105580 OMIM ANAL CANAL CARCINOMACLOACOGENIC CARCINOMA, INCLUDED
id in db is: 296098
inserted disease: 1003 ORPHA Scalp defects-postaxial polydactyly syndrome
id in db is: 296099
inserted disease: 2911 ORPHA Poland syndrome
id in db is: 296100
inserted disease: 106260 OMIM #106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE;;AEC SYNDROME;;HAY-WELLS SYNDROME
id in db is: 296101
inserted disease: 213600 OMIM #213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL; BSPDC;;STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSET;;FERROCALCINOSIS, CEREBROVASCULAR;;FAHR DISEASE, FAMILIAL, FORMERLY;;BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY; IBGC3, FORMERLY
id in db is: 296102
inserted disease: 301700 OMIM ANOSMIA
id in db is: 296103
inserted disease: 613887 OMIM #613887 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4; CATC4
id in db is: 296104
inserted disease: 300779 OMIM %300779 CORNEAL DYSTROPHY, ENDOTHELIAL, X-LINKED; XECD;;ENDOTHELIAL CORNEAL DYSTROPHY, X-LINKED
id in db is: 296105
inserted disease: 500002 OMIM #500002 MITOCHONDRIAL MYOPATHY WITH DIABETES;;MITOCHONDRIAL MYOPATHY, LIPID TYPE
id in db is: 296106
inserted disease: 39 ORPHA Acromelanosis
id in db is: 296107
inserted disease: 754 ORPHA Androgen insensitivity syndrome
id in db is: 296108
inserted disease: 3377 ORPHA Trismus-pseudocamptodactyly syndrome
id in db is: 296109
inserted disease: 792 ORPHA X-linked retinoschisis
id in db is: 296110
inserted disease: 123000 OMIM CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
id in db is: 296111
inserted disease: 149000 OMIM %149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME;;KTW SYNDROME;;KLIPPEL-TRENAUNAY SYNDROME; KTS;;ANGIOOSTEOHYPERTROPHY SYNDROME
id in db is: 296112
inserted disease: 614102 OMIM #614102 IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD;;KAPPA CHAIN DEFICIENCY
id in db is: 296113
inserted disease: 611426 OMIM 611426 TENTED EYEBROWS
id in db is: 296114
inserted disease: 211180 OMIM BOWEN-CONRADI SYNDROME
id in db is: 296115
inserted disease: 182815 OMIM SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA
id in db is: 296116
inserted disease: 79405 ORPHA Junctional epidermolysis bullosa inversa
id in db is: 296117
inserted disease: 226292 ORPHA Permanent congenital hypothyroidism
id in db is: 296118
inserted disease: 251950 OMIM MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS; MMLA
id in db is: 296119
inserted disease: 180000 OMIM RETINAL ARTERIES, TORTUOSITY OF
id in db is: 296120
inserted disease: 1915 ORPHA Fetal alcohol syndrome
id in db is: 296121
inserted disease: 243110 OMIM INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
id in db is: 296122
inserted disease: 202900 OMIM ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETESMELLITUS
id in db is: 296123
inserted disease: 176873 OMIM CELL DIVISION CYCLE 2-LIKE 1
id in db is: 296124
inserted disease: 615883 OMIM MYOPATHY, TUBULAR AGGREGATE, 2; TAM2
id in db is: 296125
inserted disease: 3 DECIPHER Williams-Beuren Syndrome (WBS)
id in db is: 296126
inserted disease: 139436 ORPHA Multicentric reticulohistiocytosis
id in db is: 296127
inserted disease: 615574 OMIM ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD
id in db is: 296128
inserted disease: 1112 ORPHA Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
id in db is: 296129
inserted disease: 1426 ORPHA Greenberg dysplasia
id in db is: 296130
inserted disease: 613107 OMIM #613107 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2
id in db is: 296131
inserted disease: 227270 OMIM FACIOCARDIOMELIC DYSPLASIA, LETHAL
id in db is: 296132
inserted disease: 600384 OMIM %600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV
id in db is: 296133
inserted disease: 614842 OMIM #614842 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13
id in db is: 296134
inserted disease: 233710 OMIM GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II
id in db is: 296135
inserted disease: 607596 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 1
id in db is: 296136
inserted disease: 608591 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G
id in db is: 296137
inserted disease: 145650 OMIM THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
id in db is: 296138
inserted disease: 176690 OMIM 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI;;MULVIHILL-SMITH SYNDROME
id in db is: 296139
inserted disease: 601086 OMIM LATERALITY DEFECTS, AUTOSOMAL DOMINANT
id in db is: 296140
inserted disease: 121050 OMIM ARTHROGRYPOSIS, DISTAL, TYPE 9
id in db is: 296141
inserted disease: 264050 OMIM PRENATAL BOWING
id in db is: 296142
inserted disease: 90289 ORPHA Localized scleroderma
id in db is: 296143
inserted disease: 246550 OMIM 246550 LICHTENSTEIN SYNDROME
id in db is: 296144
inserted disease: 2573 ORPHA Moyamoya disease
id in db is: 296145
inserted disease: 163850 OMIM NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES
id in db is: 296146
inserted disease: 194190 OMIM #194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME
id in db is: 296147
inserted disease: 261529 ORPHA Ring chromosome Y
id in db is: 296148
inserted disease: 136200 OMIM FLUSHING OF EARS AND SOMNOLENCE
id in db is: 296149
inserted disease: 208085 OMIM #208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1;;ARC SYNDROME; ARCS
id in db is: 296150
inserted disease: 2268 ORPHA ICF syndrome
id in db is: 296151
inserted disease: 606864 OMIM CARNEY-STRATAKIS SYNDROME
id in db is: 296152
inserted disease: 3050 ORPHA Intellectual disability-hypotonia-skin hyperpigmentation syndrome
id in db is: 296153
inserted disease: 248900 OMIM MAST SYNDROME
id in db is: 296154
inserted disease: 612577 OMIM #612577 AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11
id in db is: 296155
inserted disease: 190650 OMIM TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA
id in db is: 296156
inserted disease: 615779 OMIM CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4
id in db is: 296157
inserted disease: 616535 OMIM THYROID CANCER, NONMEDULLARY, 5; NMTC5
id in db is: 296158
inserted disease: 260660 OMIM #260660 COUSIN SYNDROME;;CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORTSTATURE;;PELVISCAPULAR DYSPLASIA
id in db is: 296159
inserted disease: 140400 OMIM %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII
id in db is: 296160
inserted disease: 154400 OMIM ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
id in db is: 296161
inserted disease: 1883 ORPHA Ectodermal dysplasia-sensorineural deafness syndrome
id in db is: 296162
inserted disease: 300143 OMIM #300143 MENTAL RETARDATION, X-LINKED 21; MRX21;;MENTAL RETARDATION, X-LINKED 34; MRX34
id in db is: 296163
inserted disease: 613881 OMIM #613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH
id in db is: 296164
inserted disease: 616276 OMIM COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7
id in db is: 296165
inserted disease: 614212 OMIM #614212 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4
id in db is: 296166
inserted disease: 226 ORPHA Dihydropteridine reductase deficiency
id in db is: 296167
inserted disease: 604168 OMIM #604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY;;CCFDN;;CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY
id in db is: 296168
inserted disease: 237100 OMIM 237100 HYMEN, IMPERFORATE
id in db is: 296169
inserted disease: 79134 ORPHA DEND syndrome
id in db is: 296170
inserted disease: 219600 OMIM CYSTIC DISEASE OF LUNG
id in db is: 296171
inserted disease: 85168 ORPHA Craniofacial conodysplasia
id in db is: 296172
inserted disease: 191950 OMIM URTICARIA, FAMILIAL LOCALIZED HEAT
id in db is: 296173
inserted disease: 330001 ORPHA Wild type ATTR amyloidosis
id in db is: 296174
inserted disease: 613239 OMIM THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2
id in db is: 296175
inserted disease: 605594 OMIM DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
id in db is: 296176
inserted disease: 163700 OMIM NIPPLES, SUPERNUMERARY
id in db is: 296177
inserted disease: 607080 OMIM 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY
id in db is: 296178
inserted disease: 611105 OMIM LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL
id in db is: 296179
inserted disease: 549 ORPHA Legionellosis
id in db is: 296180
inserted disease: 257100 OMIM NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA
id in db is: 296181
inserted disease: 117550 OMIM #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME
id in db is: 296182
inserted disease: 181350 OMIM #181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2;;EMD2;;EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;;SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;;MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMALDOMINANT;;HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHYEMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE,INCLUDED;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED;EDMD3, INCLUDED
id in db is: 296183
inserted disease: 612067 OMIM #612067 DYSTONIA 16; DYT16
id in db is: 296184
inserted disease: 252164 ORPHA Benign schwannoma
id in db is: 296185
inserted disease: 391487 ORPHA Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
id in db is: 296186
inserted disease: 183700 OMIM SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS
id in db is: 296187
inserted disease: 3221 ORPHA Generalized resistance to thyroid hormone
id in db is: 296188
inserted disease: 411777 ORPHA Generalized eruptive keratoacanthoma
id in db is: 296189
inserted disease: 218450 OMIM 218450 CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY,AND MANDIBULAR ANKYLOSIS;;PFEIFFER CARDIOCRANIAL SYNDROME
id in db is: 296190
inserted disease: 614417 OMIM #614417 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5
id in db is: 296191
inserted disease: 615412 OMIM #615412 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4
id in db is: 296192
inserted disease: 612736 OMIM GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
id in db is: 296193
inserted disease: 614429 OMIM #614429 VENTRICULAR SEPTAL DEFECT 1; VSD1
id in db is: 296194
inserted disease: 615424 OMIM INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3
id in db is: 296195
inserted disease: 1188 ORPHA Ataxia-deafness-intellectual disability syndrome
id in db is: 296196
inserted disease: 122 ORPHA Birt-Hogg-Dubé syndrome
id in db is: 296197
inserted disease: 99965 ORPHA O'Sullivan-McLeod syndrome
id in db is: 296198
inserted disease: 180080 OMIM 180080 RETINAL VENOUS BEADING
id in db is: 296199
inserted disease: 191800 OMIM URINARY BLADDER, ATONY OF
id in db is: 296200
inserted disease: 2097 ORPHA Grant syndrome
id in db is: 296201
inserted disease: 264010 OMIM 264010 PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY;;URBAN-ROGERS-MEYER SYNDROME
id in db is: 296202
inserted disease: 59315 ORPHA Rhombencephalosynapsis
id in db is: 296203
inserted disease: 311360 OMIM PREMATURE OVARIAN FAILURE 1
id in db is: 296204
inserted disease: 90042 ORPHA Primary familial polycythemia
id in db is: 296205
inserted disease: 616214 OMIM HYPERPROINSULINEMIA
id in db is: 296206
inserted disease: 609625 OMIM CHROMOSOME 10q26 DELETION SYNDROME
id in db is: 296207
inserted disease: 48 ORPHA Congenital bilateral absence of vas deferens
id in db is: 296208
inserted disease: 118700 OMIM #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
id in db is: 296209
inserted disease: 153870 OMIM %153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR;;MCDCA;;MACULAR DYSTROPHY, BENIGN CONCENTRIC ANNULAR; BCAMD
id in db is: 296210
inserted disease: 609338 OMIM #609338 CAROTID INTIMAL MEDIAL THICKNESS 1;;CIMT1;;INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY
id in db is: 296211
inserted disease: 167750 OMIM PANCREAS, ANNULAR
id in db is: 296212
inserted disease: 511 ORPHA Maple syrup urine disease
id in db is: 296213
inserted disease: 606937 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
id in db is: 296214
inserted disease: 1911 ORPHA Cocaine embryofetopathy
id in db is: 296215
inserted disease: 268650 OMIM 268650 RUDIGER SYNDROME
id in db is: 296216
inserted disease: 157150 OMIM MICROSPHEROPHAKIA WITH HERNIA
id in db is: 296217
inserted disease: 615397 OMIM #615397 MECKEL SYNDROME, TYPE 11; MKS11
id in db is: 296218
inserted disease: 182690 OMIM SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND
id in db is: 296219
inserted disease: 100800 OMIM #100800 ACHONDROPLASIA; ACH
id in db is: 296220
inserted disease: 188201 OMIM THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY
id in db is: 296221
inserted disease: 132300 OMIM EPILEPSY, READING
id in db is: 296222
inserted disease: 158300 OMIM #158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7;;TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;;MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;;HECHT SYNDROME
id in db is: 296223
inserted disease: 601098 OMIM CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C
id in db is: 296224
inserted disease: 126850 OMIM DUODENAL ULCER, HYPERPEPSINOGENEMIC I
id in db is: 296225
inserted disease: 275300 OMIM TRACHEOBRONCHOMEGALY
id in db is: 296226
inserted disease: 2016 ORPHA Cleft palate-lateral synechia syndrome
id in db is: 296227
inserted disease: 606445 OMIM #606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; PPBL;;B CELL EXPANSION WITH NFKB AND T CELL ANERGY; BENTA
id in db is: 296228
inserted disease: 607584 OMIM SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE
id in db is: 296229
inserted disease: 614521 OMIM #614521 THROMBOCYTHEMIA 3; THCYT3;;THROMBOCYTOSIS 3
id in db is: 296230
inserted disease: 122470 OMIM #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS
id in db is: 296231
inserted disease: 611961 OMIM 611961 STEVENSON-CAREY SYNDROME
id in db is: 296232
inserted disease: 262500 OMIM GROWTH HORMONE INSENSITIVITY SYNDROME
id in db is: 296233
inserted disease: 227010 OMIM 227010 ERMINE PHENOTYPE;;PIGMENTARY DISORDER WITH HEARING LOSSBLACK LOCKS WITH ALBINISM AND DEAFNESS SYNDROME, INCLUDED; BADS, INCLUDED
id in db is: 296234
inserted disease: 614595 OMIM #614595 PREECLAMPSIA/ECLAMPSIA 5; PEE5
id in db is: 296235
inserted disease: 602557 OMIM 602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE;;SEMD, SHOHAT TYPE
id in db is: 296236
inserted disease: 603552 OMIM #603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4;;HPLH4;;HLH4
id in db is: 296237
inserted disease: 184255 OMIM SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
id in db is: 296238
inserted disease: 270750 OMIM %270750 SPASTIC PARAPLEGIA 23; SPG23;;SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES;;SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES;;LISON SYNDROME
id in db is: 296239
inserted disease: 758 ORPHA Pseudoxanthoma elasticum
id in db is: 296240
inserted disease: 108100 OMIM ARTHRITIS, SACROILIAC
id in db is: 296241
inserted disease: 608710 OMIM GRANULOMATOSIS WITH POLYANGIITIS
id in db is: 296242
inserted disease: 612840 OMIM LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3
id in db is: 296243
inserted disease: 93402 ORPHA Syndactyly type 1
id in db is: 296244
inserted disease: 194000 OMIM WIDOW'S PEAK
id in db is: 296245
inserted disease: 128980 OMIM %128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIALABNORMALITIES
id in db is: 296246
inserted disease: 610896 OMIM #610896 BRANCHIOOTORENAL SYNDROME 2; BOR2
id in db is: 296247
inserted disease: 612244 OMIM #612244 INFLAMMATORY BOWEL DISEASE 13; IBD13
id in db is: 296248
inserted disease: 94064 ORPHA Deafness-infertility syndrome
id in db is: 296249
inserted disease: 600118 OMIM #600118 WARBURG MICRO SYNDROME 1; WARBM1;;MICRO SYNDROME
id in db is: 296250
inserted disease: 79410 ORPHA Pretibial dystrophic epidermolysis bullosa
id in db is: 296251
inserted disease: 85330 ORPHA X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
id in db is: 296252
inserted disease: 1293 ORPHA Brachyolmia
id in db is: 296253
inserted disease: 602081 OMIM SPEECH-LANGUAGE DISORDER 1
id in db is: 296254
inserted disease: 602093 OMIM #602093 CONE DYSTROPHY 3; COD3;;RETINAL CONE DYSTROPHYCONE-ROD DYSTROPHY 14, INCLUDED; CORD14, INCLUDED
id in