SuccessConsole Output

Started by user koehler
Building in workspace /var/lib/jenkins/jobs/hpo.annotations/workspace
Cleaning local Directory .
Checking out https://github.com/monarch-initiative/hpo-annotation-data/trunk/rare-diseases@HEAD at revision HEAD
A         README.txt
A         annotated
A         annotated/DECIPHER-1.tab
A         annotated/DECIPHER-14.tab
A         annotated/DECIPHER-15.tab
A         annotated/DECIPHER-16.tab
A         annotated/DECIPHER-17.tab
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A         annotated/DECIPHER-3.tab
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A         annotated/DECIPHER-35.tab
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A         annotated/DECIPHER-4.tab
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A         annotated/DECIPHER-8.tab
A         annotated/DECIPHER-81.tab
A         annotated/DECIPHER-85.tab
A         annotated/DECIPHER-92.tab
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AU        annotated/OMIM-109270.tab
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A         annotated/OMIM-617213.tab
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A         annotated/OMIM-617217.tab
A         annotated/OMIM-617219.tab
A         annotated/OMIM-617222.tab
A         annotated/OMIM-617223.tab
A         annotated/OMIM-617225.tab
A         annotated/OMIM-617228.tab
A         annotated/OMIM-617232.tab
A         annotated/OMIM-617234.tab
A         annotated/OMIM-617235.tab
A         annotated/OMIM-617236.tab
A         annotated/OMIM-617237.tab
A         annotated/OMIM-617238.tab
A         annotated/OMIM-617239.tab
A         annotated/OMIM-617241.tab
A         annotated/OMIM-617243.tab
A         annotated/OMIM-617244.tab
A         annotated/OMIM-617247.tab
A         annotated/OMIM-617248.tab
A         annotated/OMIM-617251.tab
A         annotated/OMIM-617252.tab
A         annotated/OMIM-617253.tab
A         annotated/OMIM-617255.tab
A         annotated/OMIM-617258.tab
A         annotated/OMIM-617260.tab
A         annotated/OMIM-617268.tab
A         annotated/OMIM-617270.tab
A         annotated/OMIM-617271.tab
A         annotated/OMIM-617272.tab
A         annotated/OMIM-617275.tab
A         annotated/OMIM-617276.tab
A         annotated/OMIM-617280.tab
A         annotated/OMIM-617282.tab
A         annotated/OMIM-617284.tab
A         annotated/OMIM-617290.tab
A         annotated/OMIM-617294.tab
A         annotated/OMIM-617296.tab
A         annotated/OMIM-617297.tab
A         annotated/OMIM-617300.tab
A         annotated/OMIM-617301.tab
A         annotated/OMIM-617302.tab
A         annotated/OMIM-617303.tab
A         annotated/OMIM-617304.tab
A         annotated/OMIM-617306.tab
A         annotated/OMIM-617308.tab
A         annotated/OMIM-617315.tab
A         annotated/OMIM-617319.tab
A         annotated/OMIM-617320.tab
A         annotated/OMIM-617321.tab
A         annotated/OMIM-617323.tab
A         annotated/OMIM-617330.tab
A         annotated/OMIM-617333.tab
A         annotated/OMIM-617336.tab
A         annotated/OMIM-617337.tab
A         annotated/OMIM-617339.tab
A         annotated/OMIM-617341.tab
A         annotated/OMIM-617343.tab
A         annotated/OMIM-617349.tab
A         annotated/OMIM-617350.tab
A         annotated/OMIM-617360.tab
A         annotated/OMIM-617364.tab
A         annotated/OMIM-617370.tab
A         annotated/OMIM-617383.tab
A         annotated/OMIM-617384.tab
A         annotated/OMIM-617388.tab
A         annotated/OMIM-617389.tab
A         annotated/OMIM-617391.tab
A         annotated/OMIM-617392.tab
A         annotated/OMIM-617393.tab
A         annotated/OMIM-617394.tab
A         annotated/OMIM-617395.tab
A         annotated/OMIM-617396.tab
A         annotated/OMIM-617397.tab
A         annotated/OMIM-617402.tab
A         annotated/OMIM-617404.tab
A         annotated/OMIM-617405.tab
A         annotated/OMIM-617406.tab
A         annotated/OMIM-617408.tab
A         annotated/OMIM-617409.tab
A         annotated/OMIM-617412.tab
A         annotated/OMIM-617425.tab
A         annotated/OMIM-617432.tab
A         annotated/OMIM-617433.tab
A         annotated/OMIM-617439.tab
A         annotated/OMIM-617441.tab
A         annotated/OMIM-617442.tab
A         annotated/OMIM-617450.tab
A         annotated/OMIM-617452.tab
A         annotated/OMIM-617460.tab
A         annotated/OMIM-617466.tab
A         annotated/OMIM-617468.tab
A         annotated/OMIM-617478.tab
A         annotated/OMIM-617506.tab
A         annotated/OMIM-617526.tab
A         annotated/OMIM-617537.tab
A         ignore_for_annotation.txt
A         misc
A         misc/.gitignore
A         misc/cataract
A         misc/cataract/MIM-107250.tab
A         misc/cataract/MIM-115650.tab
A         misc/cataract/MIM-115665.tab
A         misc/cataract/MIM-116600.tab
A         misc/cataract/MIM-116800.tab
A         misc/cataract/MIM-123680.tab
A         misc/cataract/MIM-123730.tab
A         misc/cataract/MIM-154050.tab
A         misc/cataract/MIM-600897.tab
A         misc/cataract/MIM-601885.tab
A         misc/cataract/MIM-604307.tab
A         misc/cataract/MIM-607304.tab
A         misc/cataract/MIM-608810-AR.tab
A         misc/cataract/MIM-608810.tab
A         misc/cataract/MIM-610634.tab
A         misc/cataract/MIM-611597.tab
A         misc/excelfiles
A         misc/excelfiles/Analysis_Table.xls
A         misc/excelfiles/Analysis_Table_NEW_13-09-11.xls
A         misc/excelfiles/Analysis_novel_18-09-11.xls
A         misc/excelfiles/Prioritized DECIPHER_for_Annotation.xls
A         misc/excelfiles/Prioritized-Disease-List.xls
A         misc/excelfiles/candidates_alpha-3.xls
A         misc/helpscripts
A         misc/helpscripts/fixDate.pl
A         misc/jarFiles
A         misc/jarFiles/generateAnnotationFile.jar
A         misc/makefile
A         misc/phenote
A         misc/phenote/hpo.cfg
A         omim-genes
A         omim-genes/OMIM-100640.tab
AU        omim-genes/OMIM-100650.tab
A         omim-genes/OMIM-100675.tab
At revision 4738
[workspace] $ /bin/sh -xe /tmp/hudson7807607552304103071.sh
+ make -C misc
make: Entering directory '/var/lib/jenkins/jobs/hpo.annotations/workspace/misc'
mkdir -p data
# load orphanet data
wget -N -P data http://www.orphadata.org/data/xml/en_product4_HPO.xml
--2017-10-05 11:39:15--  http://www.orphadata.org/data/xml/en_product4_HPO.xml
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: 24502882 (23M) [text/xml]
Saving to: ‘data/en_product4_HPO.xml’

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 10400K .......... .......... .......... .......... .......... 43% 33.3M 1s
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 23900K .......... .......... ........                        100% 11.9M=1.4s

2017-10-05 11:39:17 (16.3 MB/s) - ‘data/en_product4_HPO.xml’ saved [24502882/24502882]

# loads the HPO
wget -N -P data http://purl.obolibrary.org/obo/hp.obo
--2017-10-05 11:39:17--  http://purl.obolibrary.org/obo/hp.obo
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... 302 Found
Location: https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/hp.obo [following]
--2017-10-05 11:39:17--  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: 5685945 (5.4M) [text/plain]
Saving to: ‘data/hp.obo’

     0K .......... .......... .......... .......... ..........  0% 1.85M 3s
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   300K .......... .......... .......... .......... ..........  6% 5.05M 1s
   350K .......... .......... .......... .......... ..........  7% 4.90M 1s
   400K .......... .......... .......... .......... ..........  8% 6.31M 1s
   450K .......... .......... .......... .......... ..........  9% 5.75M 1s
   500K .......... .......... .......... .......... ..........  9% 4.95M 1s
   550K .......... .......... .......... .......... .......... 10% 6.59M 1s
   600K .......... .......... .......... .......... .......... 11% 7.04M 1s
   650K .......... .......... .......... .......... .......... 12% 5.58M 1s
   700K .......... .......... .......... .......... .......... 13% 7.57M 1s
   750K .......... .......... .......... .......... .......... 14% 4.31M 1s
   800K .......... .......... .......... .......... .......... 15% 5.54M 1s
   850K .......... .......... .......... .......... .......... 16% 12.1M 1s
   900K .......... .......... .......... .......... .......... 17% 5.48M 1s
   950K .......... .......... .......... .......... .......... 18% 5.91M 1s
  1000K .......... .......... .......... .......... .......... 18% 17.7M 1s
  1050K .......... .......... .......... .......... .......... 19% 6.03M 1s
  1100K .......... .......... .......... .......... .......... 20% 8.86M 1s
  1150K .......... .......... .......... .......... .......... 21% 5.07M 1s
  1200K .......... .......... .......... .......... .......... 22% 3.73M 1s
  1250K .......... .......... .......... .......... .......... 23% 8.58M 1s
  1300K .......... .......... .......... .......... .......... 24% 4.87M 1s
  1350K .......... .......... .......... .......... .......... 25% 7.28M 1s
  1400K .......... .......... .......... .......... .......... 26% 4.91M 1s
  1450K .......... .......... .......... .......... .......... 27% 13.3M 1s
  1500K .......... .......... .......... .......... .......... 27% 5.16M 1s
  1550K .......... .......... .......... .......... .......... 28% 10.4M 1s
  1600K .......... .......... .......... .......... .......... 29% 9.72M 1s
  1650K .......... .......... .......... .......... .......... 30% 8.71M 1s
  1700K .......... .......... .......... .......... .......... 31% 10.6M 1s
  1750K .......... .......... .......... .......... .......... 32% 5.54M 1s
  1800K .......... .......... .......... .......... .......... 33% 33.4M 1s
  1850K .......... .......... .......... .......... .......... 34% 28.9M 1s
  1900K .......... .......... .......... .......... .......... 35% 2.75M 1s
  1950K .......... .......... .......... .......... .......... 36% 9.11M 1s
  2000K .......... .......... .......... .......... .......... 36% 6.40M 1s
  2050K .......... .......... .......... .......... .......... 37% 9.14M 1s
  2100K .......... .......... .......... .......... .......... 38% 5.92M 1s
  2150K .......... .......... .......... .......... .......... 39% 10.5M 1s
  2200K .......... .......... .......... .......... .......... 40% 12.1M 1s
  2250K .......... .......... .......... .......... .......... 41% 10.3M 1s
  2300K .......... .......... .......... .......... .......... 42% 11.0M 1s
  2350K .......... .......... .......... .......... .......... 43% 13.4M 1s
  2400K .......... .......... .......... .......... .......... 44% 11.5M 0s
  2450K .......... .......... .......... .......... .......... 45% 14.5M 0s
  2500K .......... .......... .......... .......... .......... 45% 14.2M 0s
  2550K .......... .......... .......... .......... .......... 46% 26.3M 0s
  2600K .......... .......... .......... .......... .......... 47% 32.5M 0s
  2650K .......... .......... .......... .......... .......... 48% 16.1M 0s
  2700K .......... .......... .......... .......... .......... 49% 5.84M 0s
  2750K .......... .......... .......... .......... .......... 50% 14.6M 0s
  2800K .......... .......... .......... .......... .......... 51% 58.4M 0s
  2850K .......... .......... .......... .......... .......... 52% 18.0M 0s
  2900K .......... .......... .......... .......... .......... 53% 2.30M 0s
  2950K .......... .......... .......... .......... .......... 54% 25.2M 0s
  3000K .......... .......... .......... .......... .......... 54% 14.7M 0s
  3050K .......... .......... .......... .......... .......... 55% 5.83M 0s
  3100K .......... .......... .......... .......... .......... 56% 9.26M 0s
  3150K .......... .......... .......... .......... .......... 57% 17.6M 0s
  3200K .......... .......... .......... .......... .......... 58% 19.3M 0s
  3250K .......... .......... .......... .......... .......... 59% 33.0M 0s
  3300K .......... .......... .......... .......... .......... 60% 7.96M 0s
  3350K .......... .......... .......... .......... .......... 61% 15.6M 0s
  3400K .......... .......... .......... .......... .......... 62% 10.5M 0s
  3450K .......... .......... .......... .......... .......... 63% 19.2M 0s
  3500K .......... .......... .......... .......... .......... 63% 26.2M 0s
  3550K .......... .......... .......... .......... .......... 64% 25.0M 0s
  3600K .......... .......... .......... .......... .......... 65% 16.7M 0s
  3650K .......... .......... .......... .......... .......... 66% 12.4M 0s
  3700K .......... .......... .......... .......... .......... 67% 25.1M 0s
  3750K .......... .......... .......... .......... .......... 68% 21.6M 0s
  3800K .......... .......... .......... .......... .......... 69% 21.9M 0s
  3850K .......... .......... .......... .......... .......... 70% 15.9M 0s
  3900K .......... .......... .......... .......... .......... 71% 6.26M 0s
  3950K .......... .......... .......... .......... .......... 72% 67.0M 0s
  4000K .......... .......... .......... .......... .......... 72% 46.0M 0s
  4050K .......... .......... .......... .......... .......... 73% 59.8M 0s
  4100K .......... .......... .......... .......... .......... 74% 16.1M 0s
  4150K .......... .......... .......... .......... .......... 75% 2.99M 0s
  4200K .......... .......... .......... .......... .......... 76% 16.5M 0s
  4250K .......... .......... .......... .......... .......... 77% 15.8M 0s
  4300K .......... .......... .......... .......... .......... 78% 48.6M 0s
  4350K .......... .......... .......... .......... .......... 79% 5.19M 0s
  4400K .......... .......... .......... .......... .......... 80% 47.4M 0s
  4450K .......... .......... .......... .......... .......... 81% 67.5M 0s
  4500K .......... .......... .......... .......... .......... 81% 48.0M 0s
  4550K .......... .......... .......... .......... .......... 82% 12.3M 0s
  4600K .......... .......... .......... .......... .......... 83% 19.8M 0s
  4650K .......... .......... .......... .......... .......... 84% 7.09M 0s
  4700K .......... .......... .......... .......... .......... 85% 34.8M 0s
  4750K .......... .......... .......... .......... .......... 86% 47.2M 0s
  4800K .......... .......... .......... .......... .......... 87% 53.7M 0s
  4850K .......... .......... .......... .......... .......... 88% 18.8M 0s
  4900K .......... .......... .......... .......... .......... 89% 10.6M 0s
  4950K .......... .......... .......... .......... .......... 90% 10.8M 0s
  5000K .......... .......... .......... .......... .......... 90% 34.0M 0s
  5050K .......... .......... .......... .......... .......... 91% 31.4M 0s
  5100K .......... .......... .......... .......... .......... 92% 17.5M 0s
  5150K .......... .......... .......... .......... .......... 93% 22.2M 0s
  5200K .......... .......... .......... .......... .......... 94%  111M 0s
  5250K .......... .......... .......... .......... .......... 95% 37.7M 0s
  5300K .......... .......... .......... .......... .......... 96% 24.2M 0s
  5350K .......... .......... .......... .......... .......... 97% 34.7M 0s
  5400K .......... .......... .......... .......... .......... 98% 23.9M 0s
  5450K .......... .......... .......... .......... .......... 99% 7.42M 0s
  5500K .......... .......... .......... .......... .......... 99%  110M 0s
  5550K ..                                                    100% 54.3M=0.6s

Last-modified header missing -- time-stamps turned off.
2017-10-05 11:39:18 (9.03 MB/s) - ‘data/hp.obo’ saved [5685945/5685945]

java -Xmx1G -jar jarFiles/generateAnnotationFile.jar --orphadata "data/en_product4_HPO.xml" --out-folder "." --hpo_ontology "data/hp.obo" --berkeley-annotated "../annotated/" --only-before "01-01-2016"
parse: data/hp.obo
Oct 05, 2017 11:39:19 AM ontologizer.go.OBOParser doParse
INFO: Got 13156 terms and 16794 relations in 155 ms
Details of parsed obo file:
  data-version:		releases/2017-10-05
  format:		1.2
  term definitions:	13156
Oct 05, 2017 11:39:19 AM ontologizer.go.Ontology assignLevel1TermsAndFixRoot
INFO: Ontology contains a single level-one term (All (HP:0000001)
Oct 05, 2017 11:39:19 AM ontologizer.go.Ontology assignLevel1TermsAndFixRoot
INFO: Ontology contains a single level-one term (Phenotypic abnormality (HP:0000118)
/var/lib/jenkins/jobs/hpo.annotations/workspace/misc/../annotated
.
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615763	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615763	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607539	CAMPTOSYNPOLYDACTYLY, COMPLEX					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:607539	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607539	CAMPTOSYNPOLYDACTYLY, COMPLEX					HP:0012725	Cutaneous syndactyly			IEA	IEA						OMIM-CS:skeletalfeet > CUTANEOUS SYNDACTYLY	OMIM:607539	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607539	CAMPTOSYNPOLYDACTYLY, COMPLEX					HP:0012385	Camptodactyly			IEA	IEA						OMIM-CS:skeletalhands > CAMPTODACTYLY	OMIM:607539	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607539	CAMPTOSYNPOLYDACTYLY, COMPLEX					HP:0010442	Polydactyly			IEA	IEA						OMIM-CS:skeletalhands > POLYDACTYLY	OMIM:607539	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607539	CAMPTOSYNPOLYDACTYLY, COMPLEX					HP:0001159	Syndactyly			IEA	IEA						OMIM-CS:skeletalhands > SYNDACTYLY	OMIM:607539	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607539	CAMPTOSYNPOLYDACTYLY, COMPLEX					HP:0002164	Nail dysplasia			IEA	IEA						OMIM-CS:skinnailshairnails > DYSPLASTIC NAILS	OMIM:607539	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607539	CAMPTOSYNPOLYDACTYLY, COMPLEX					HP:0100797	Toenail dysplasia			IEA	IEA						OMIM-CS:skinnailshairnails > DYSPLASTIC TOENAILS	OMIM:607539	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607539	CAMPTOSYNPOLYDACTYLY, COMPLEX					HP:0001792	Small nail			IEA	IEA						OMIM-CS:skinnailshairnails > HYPOPLASTIC NAILS	OMIM:607539	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA (PATIENT A)	OMIM:616505	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:252010	MITOCHONDRIAL COMPLEX I DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:252010	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:252010	MITOCHONDRIAL COMPLEX I DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:252010	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:180100	RETINITIS PIGMENTOSA 1					HP:0000545	Myopia			IEA	IEA						MODIFIER:MODERATE;OMIM-CS:headandneckeyes > MYOPIA, MODERATE	OMIM:180100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:180100	RETINITIS PIGMENTOSA 1					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:180100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:180100	RETINITIS PIGMENTOSA 1					HP:0001425	Heterogeneous			IEA	IEA						OMIM-CS:miscellaneous > GENETIC HETEROGENEITY (SEE	OMIM:180100	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:258850	OROFACIODIGITAL SYNDROME III					HP:0010297	Bifid tongue			IEA	IEA						OMIM-CS:headandneckmouth > CLEFT TONGUE	OMIM:258850	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001634	Mitral valve prolapse			IEA	IEA						OMIM-CS:cardiovascularheart > MITRAL VALVE PROLAPSE (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001629	Ventricular septal defect			IEA	IEA	rare					OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT (IN SOME PATIENTS)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0002619	Varicose veins			IEA	IEA						OMIM-CS:cardiovascularvascular > VARICOSE VEINS, SEVERE (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000107	Renal cyst			IEA	IEA	rare					OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS (1 PATIENT)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000110	Renal dysplasia			IEA	IEA	rare					OMIM-CS:genitourinarykidneys > DYSPLASTIC KIDNEYS (1 PATIENT)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0004712	Renal malrotation			IEA	IEA						OMIM-CS:genitourinarykidneys > RENAL MALROTATION	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0030037	Bifid ureter			IEA	IEA						OMIM-CS:genitourinaryureters > BIFID URETER (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000098	Tall stature			IEA	IEA						OMIM-CS:growthheight > TALL STATURE	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001520	Large for gestational age			IEA	IEA						OMIM-CS:growthother > MACROSOMIA	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001548	Overgrowth			IEA	IEA						OMIM-CS:growthother > OVERGROWTH	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:headandneckears > LARGE EARS (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > SENSORINEURAL HEARING LOSS (1 PATIENT)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000589	Coloboma			IEA	IEA						OMIM-CS:headandneckeyes > COLOBOMA (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000490	Deeply set eye			IEA	IEA						OMIM-CS:headandneckeyes > DEEP-SET EYES	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000286	Epicanthus			IEA	IEA						OMIM-CS:headandneckeyes > EPICANTHAL FOLDS	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > FLAT MIDFACE	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000311	Round face			IEA	IEA						OMIM-CS:headandneckface > ROUND FACE	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000256	Macrocephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > MACROCEPHALY (IN SOME PATIENTS)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000158	Macroglossia			IEA	IEA						OMIM-CS:headandneckmouth > MACROGLOSSIA (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0012471	Thick vermilion border			IEA	IEA						OMIM-CS:headandneckmouth > THICK LIPS	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0002667	Nephroblastoma			IEA	IEA	rare					OMIM-CS:neoplasia > WILMS TUMOR (1 PATIENT)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, MILD	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001256	Intellectual disability, mild			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001763	Pes planus			IEA	IEA	rare					OMIM-CS:skeletalfeet > FLAT FEET (1 PATIENT)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001833	Long foot			IEA	IEA						OMIM-CS:skeletalfeet > LARGE FEET (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001847	Long hallux			IEA	IEA						OMIM-CS:skeletalfeet > LARGE HALLUCES (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0001176	Large hands			IEA	IEA						OMIM-CS:skeletalhands > LARGE HANDS (PATIENT A)	OMIM:617107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617107	THAUVIN-ROBINET-FAIVRE SYNDROME					HP:0002979	Bowing of the legs			IEA	IEA	rare					OMIM-CS:skeletallimbs > BOWING OF THE LEGS (1 PATIENT)	OMIM:617107	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:277410	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:277410	HPO:skoehler	13.07.2017
.............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0002020	Gastroesophageal reflux			IEA	IEA						OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR SWALLOWING	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0001671	Abnormality of the cardiac septa			IEA	IEA						OMIM-CS:cardiovascularheart > SEPTAL DEFECTS	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000286	Epicanthus			IEA	IEA						OMIM-CS:headandneckeyes > EPICANTHAL FOLDS	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0012246	Oculomotor nerve palsy			IEA	IEA						OMIM-CS:headandneckeyes > OCULOMOTOR NERVE PALSY	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000602	Ophthalmoplegia			IEA	IEA						OMIM-CS:headandneckeyes > OPHTHALMOPLEGIA	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000508	Ptosis			IEA	IEA						OMIM-CS:headandneckeyes > PTOSIS	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0010628	Facial palsy			IEA	IEA						OMIM-CS:headandneckface > FACIAL MUSCLE WEAKNESS	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0010628	Facial palsy			IEA	IEA						OMIM-CS:headandneckface > FACIAL PALSY	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000278	Retrognathia			IEA	IEA						OMIM-CS:headandneckface > RETROGNATHIA	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:headandneckhead > MACROCEPHALY	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0001357	Plagiocephaly			IEA	IEA						OMIM-CS:headandneckhead > PLAGIOCEPHALY	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000211	Trismus			IEA	IEA						OMIM-CS:headandneckmouth > LIMITED MOUTH OPENING	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > FLAT NASAL ROOT	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > UPTURNED NOSE	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0006829	Severe muscular hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0001263	Global developmental delay			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT (IN SOME PATIENTS)	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENLARGED VENTRICLES	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0001249	Intellectual disability			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (IN SOME PATIENTS)	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0002365	Hypoplasia of the brainstem			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SMALL BRAINSTEM	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0001558	Decreased fetal movement			IEA	IEA						OMIM-CS:prenatalmanifestationsmovement > DECREASED FETAL MOVEMENTS	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0002093	Respiratory insufficiency			IEA	IEA						OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0001371	Flexion contracture			IEA	IEA						OMIM-CS:skeletal > JOINT CONTRACTURES	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > CLUBFEET	OMIM:254940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254940	CAREY-FINEMAN-ZITER SYNDROME					HP:0001182	Tapered finger			IEA	IEA						OMIM-CS:skeletalhands > TAPERING FINGERS	OMIM:254940	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610125	MICROPHTHALMIA, SYNDROMIC 5					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:610125	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2					HP:0012579	Minimal change glomerulonephritis			IEA	IEA	rare					OMIM-CS:genitourinarykidneys > MINIMAL CHANGE DISEASE (1 PATIENT)	OMIM:617006	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2					HP:0000100	Nephrotic syndrome			IEA	IEA	rare					OMIM-CS:genitourinarykidneys > NEPHROTIC SYNDROME (1 PATIENT)	OMIM:617006	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2					HP:0000093	Proteinuria			IEA	IEA						OMIM-CS:genitourinarykidneys > PROTEINURIA	OMIM:617006	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617006	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:617006	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614561	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > HIGHLY VARIABLE SEVERITY	OMIM:614561	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614561	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:614561	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614561	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY	OMIM:614561	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614561	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS					HP:0001288	Gait disturbance			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GAIT ABNORMALITIES	OMIM:614561	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616538	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0011675	Arrhythmia			IEA	IEA						OMIM-CS:cardiovascularheart > ARRHYTHMIA	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0001638	Cardiomyopathy			IEA	IEA						OMIM-CS:cardiovascularheart > CARDIOMYOPATHY	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0000833	Glucose intolerance			IEA	IEA						OMIM-CS:endocrinefeatures > IMPAIRED GLUCOSE TOLERANCE	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0000802	Impotence			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > IMPOTENCE	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0000518	Cataract			IEA	IEA						OMIM-CS:headandneckeyes > CATARACT	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0003281	Increased serum ferritin			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM FERRITIN	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0012378	Fatigue			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > FATIGUE	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0002829	Arthralgia			IEA	IEA						OMIM-CS:skeletal > JOINT PAINS	OMIM:606069	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606069	HEMOCHROMATOSIS, TYPE 4					HP:0002758	Osteoarthritis			IEA	IEA						OMIM-CS:skeletal > OSTEOARTHRITIS	OMIM:606069	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602361	GRACILE BONE DYSPLASIA					HP:0004331	Decreased skull ossification			IEA	IEA	rare					OMIM-CS:skeletalskull > DECREASED MINERALIZATION OF SKULL (IN SOME PATIENTS)	OMIM:602361	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:304100	CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:304100	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:125280	DENS EVAGINATUS					HP:0011087	Talon cusp			IEA	IEA						OMIM-CS:preferredtitle > DENS EVAGINATUS	OMIM:125280	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617294	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617294	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617294	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS					HP:0002231	Sparse body hair			IEA	IEA						OMIM-CS:skinnailshairhair > SPARSE BODY HAIR (IN ADULTHOOD)	OMIM:617294	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617294	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS					HP:0001810	Dystrophic toenail			IEA	IEA						OMIM-CS:skinnailshairnails > DYSTROPHIC TOENAILS	OMIM:617294	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617294	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS					HP:0007435	Diffuse palmoplantar keratoderma			IEA	IEA						OMIM-CS:skinnailshairskin > DIFFUSE PALMOPLANTAR KERATODERMA (IN ADULTHOOD)	OMIM:617294	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300991	CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED					HP:0001696	Situs inversus totalis			IEA	IEA						OMIM-CS:abdomen > SITUS INVERSUS TOTALIS (IN ABOUT 50% OF PATIENTS)	OMIM:300991	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300991	CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED					HP:0000789	Infertility			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > INFERTILITY (DUE TO IMMOTILE SPERM)	OMIM:300991	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300991	CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED					HP:0011108	Recurrent sinusitis			IEA	IEA						OMIM-CS:headandneckhead > SINUSITIS, RECURRENT	OMIM:300991	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300991	CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300991	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300991	CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED					HP:0002643	Neonatal respiratory distress			IEA	IEA						OMIM-CS:respiratory > RESPIRATORY DISTRESS, NEONATAL	OMIM:300991	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300991	CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED					HP:0002205	Recurrent respiratory infections			IEA	IEA						OMIM-CS:respiratory > RESPIRATORY INFECTIONS, RECURRENT (DUE TO IMPAIRED CILIARY CLEARANCE)	OMIM:300991	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300991	CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED					HP:0002110	Bronchiectasis			IEA	IEA						OMIM-CS:respiratorylung > BRONCHIECTASIS	OMIM:300991	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300919	MENTAL RETARDATION, X-LINKED 99					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:300919	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607411	PATENT DUCTUS ARTERIOSUS 1					HP:0001643	Patent ductus arteriosus			IEA	IEA						OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS	OMIM:607411	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607411	PATENT DUCTUS ARTERIOSUS 1					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:607411	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE					HP:0000518	Cataract			IEA	IEA	rare					OMIM-CS:headandneckeyes > LENS OPACITY, MILD (IN SOME PATIENTS)	OMIM:216820	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614207	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614207	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614207	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0001545	Anteriorly placed anus			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > ANTERIORLY PLACED ANUS (RARE)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0010954	Hypoplastic right heart			IEA	IEA						OMIM-CS:cardiovascularheart > HYPOPLASTIC RIGHT HEART	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0001655	Patent foramen ovale			IEA	IEA						OMIM-CS:cardiovascularheart > PATENT FORAMEN OVALE	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0004935	Pulmonary artery atresia			IEA	IEA						OMIM-CS:cardiovascularheart > PULMONARY ATRESIA	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0005180	Tricuspid regurgitation			IEA	IEA						OMIM-CS:cardiovascularheart > TRICUSPID REGURGITATION	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0001643	Patent ductus arteriosus			IEA	IEA						OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000028	Cryptorchidism			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTORCHIDISM (IN 1 PATIENT)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000365	Hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > HEARING LOSS (RARE)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000369	Low-set ears			IEA	IEA	rare					OMIM-CS:headandneckears > LOW-SET EARS (RARE)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000592	Blue sclerae			IEA	IEA	rare					OMIM-CS:headandneckeyes > BLUE SCLERAE (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000286	Epicanthus			IEA	IEA	rare					OMIM-CS:headandneckeyes > EPICANTHAL FOLDS (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000316	Hypertelorism			IEA	IEA	rare					OMIM-CS:headandneckeyes > HYPERTELORISM (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000527	Long eyelashes			IEA	IEA	rare					OMIM-CS:headandneckeyes > LONG EYELASHES (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000520	Proptosis			IEA	IEA						OMIM-CS:headandneckeyes > PROMINENT EYES	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000506	Telecanthus			IEA	IEA	rare					OMIM-CS:headandneckeyes > TELECANTHUS (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000582	Upslanted palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0002007	Frontal bossing			IEA	IEA	rare					OMIM-CS:headandneckface > FRONTAL BOSSING (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000343	Long philtrum			IEA	IEA						OMIM-CS:headandneckface > LONG PHILTRUM	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000347	Micrognathia			IEA	IEA						OMIM-CS:headandneckface > MICROGNATHIA	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE HYPOPLASIA	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000256	Macrocephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > MACROCEPHALY (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0410030	Cleft lip			IEA	IEA	rare					OMIM-CS:headandneckmouth > CLEFT LIP (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000175	Cleft palate			IEA	IEA						OMIM-CS:headandneckmouth > CLEFT PALATE	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0002714	Downturned corners of mouth			IEA	IEA						OMIM-CS:headandneckmouth > DOWNTURNED MOUTH	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000212	Gingival overgrowth			IEA	IEA						OMIM-CS:headandneckmouth > GINGIVAL HYPERPLASIA	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000470	Short neck			IEA	IEA	rare					OMIM-CS:headandneckneck > SHORT NECK (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000465	Webbed neck			IEA	IEA	rare					OMIM-CS:headandneckneck > WEBBED NECK (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > ANTEVERTED NARES	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > LOW NASAL BRIDGE	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0003196	Short nose			IEA	IEA						OMIM-CS:headandnecknose > SHORT NOSE	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000431	Wide nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > WIDE NASAL BRIDGE	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000689	Dental malocclusion			IEA	IEA	rare					OMIM-CS:headandneckteeth > MALOCCLUSION (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0006349	Agenesis of permanent teeth			IEA	IEA	rare					OMIM-CS:headandneckteeth > MISSING TEETH (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0011304	Broad thumb			IEA	IEA	rare					OMIM-CS:skeletalhands > BROAD THUMB (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0030084	Clinodactyly			IEA	IEA						OMIM-CS:skeletalhands > CLINODACTYLY	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0009803	Short phalanx of finger			IEA	IEA	rare					OMIM-CS:skeletalhands > HYPOPLASTIC PHALANGES (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0003027	Mesomelia			IEA	IEA						OMIM-CS:skeletallimbs > MESOMELIA	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0000256	Macrocephaly			IEA	IEA	rare					OMIM-CS:skeletalskull > MACROCEPHALY (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0002808	Kyphosis			IEA	IEA	rare					OMIM-CS:skeletalspine > KYPHOSIS (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3					HP:0002650	Scoliosis			IEA	IEA	rare					OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS)	OMIM:616894	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603075	MACULAR DEGENERATION, AGE-RELATED, 1					HP:0012643	Foveal hypopigmentation			IEA	IEA						OMIM-CS:headandneckeyes > FOVEAL HYPOPIGMENTATION (IN PRESYMPTOMATIC YOUNGER PATIENTS)	OMIM:603075	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603075	MACULAR DEGENERATION, AGE-RELATED, 1					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:603075	HPO:skoehler	13.07.2017
..filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0004322	Short stature			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000256	Macrocephaly			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000248	Brachycephaly			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000337	Broad forehead			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000348	High forehead			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000324	Facial asymmetry			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000322	Short philtrum			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000396	Overfolded helix			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000389	Chronic otitis media			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0011228	Horizontal eyebrow			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000527	Long eyelashes			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000455	Broad nasal tip			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000347	Micrognathia			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000218	High palate			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000699	Diastema			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0001643	Patent ductus arteriosus			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0012450	Chronic constipation			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000028	Cryptorchidism			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000122	Unilateral renal agenesis			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000126	Hydronephrosis			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000965	Cutis marmorata			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0001252	Muscular hypotonia			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0001263	Global developmental delay			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0001250	Seizures			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000238	Hydrocephalus			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0001288	Gait disturbance			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0002119	Ventriculomegaly			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0002079	Hypoplasia of the corpus callosum			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0001320	Cerebellar vermis hypoplasia			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000739	Anxiety			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0007018	Attention deficit hyperactivity disorder			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000729	Autistic behavior			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
filter this Thu Feb 25 00:00:00 CET 2016
OMIM:609757	#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME					HP:0000824	Growth hormone deficiency			TAS	TAS							OMIM	HPO:skoehler	2016-02-25
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609560	MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:609560	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300983	MENTAL RETARDATION, X-LINKED 104					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300983	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300983	MENTAL RETARDATION, X-LINKED 104					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY	OMIM:300983	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300983	MENTAL RETARDATION, X-LINKED 104					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:300983	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300983	MENTAL RETARDATION, X-LINKED 104					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS)	OMIM:300983	HPO:skoehler	13.07.2017
...
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608149	KAGAMI-OGATA SYNDROME					HP:0000343	Long philtrum			IEA	IEA						OMIM-CS:headandneckface > ELONGATED PHILTRUM	OMIM:608149	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608149	KAGAMI-OGATA SYNDROME					HP:0011335	Frontal hirsutism			IEA	IEA						OMIM-CS:headandneckface > HAIRY FOREHEAD	OMIM:608149	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608149	KAGAMI-OGATA SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (IN SOME PATIENTS)	OMIM:608149	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608149	KAGAMI-OGATA SYNDROME					HP:0011335	Frontal hirsutism			IEA	IEA						OMIM-CS:skinnailshairhair > HAIRY FOREHEAD	OMIM:608149	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:214110	PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neuro > HYPOTONIA	OMIM:214110	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:229050	FOLATE MALABSORPTION, HEREDITARY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:229050	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:249900	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:249900	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615636	JOUBERT SYNDROME 21					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:615636	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609625	CHROMOSOME 10Q26 DELETION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:609625	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604377	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:604377	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602134	TREMOR, HEREDITARY ESSENTIAL, 2					HP:0030186	Kinetic tremor			IEA	IEA						OMIM-CS:neuro > ESSENTIAL TREMOR	OMIM:602134	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0001410	Decreased liver function			IEA	IEA						OMIM-CS:abdomenliver > LIVER DYSFUNCTION	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0011675	Arrhythmia			IEA	IEA						OMIM-CS:cardiovascularheart > ARRHYTHMIAS	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0001643	Patent ductus arteriosus			IEA	IEA						OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RESTRICTION	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0001924	Sideroblastic anemia			IEA	IEA						OMIM-CS:hematology > SIDEROBLASTIC ANEMIA	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0001873	Thrombocytopenia			IEA	IEA						OMIM-CS:hematology > THROMBOCYTOPENIA	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0003128	Lactic acidosis			IEA	IEA						OMIM-CS:metabolicfeatures > LACTIC ACIDOSIS	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0002353	EEG abnormality			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ABNORMAL EEG	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0001562	Oligohydramnios			IEA	IEA						OMIM-CS:prenatalmanifestationsamnioticfluid > OLIGOHYDRAMNIOS	OMIM:617021	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617021	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA					HP:0002093	Respiratory insufficiency			IEA	IEA						OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY	OMIM:617021	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609241	SCHINDLER DISEASE, TYPE I					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:609241	HPO:skoehler	13.07.2017
..filter this Mon May 29 00:00:00 CEST 2017
OMIM:228300	HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23					HP:0008669	Abnormal spermatogenesis			TAS	TAS							OMIM:228300	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:228300	HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23					HP:0010789	Abnormality of the Leydig cells			TAS	TAS							OMIM:228300	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:228300	HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23					HP:0000044	Hypogonadotrophic hypogonadism			TAS	TAS							OMIM:228300	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:228300	HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23					HP:0030344	Decreased circulating luteinizing hormone level			TAS	TAS							OMIM:228300	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:228300	HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23					HP:0040171	Decreased serum testosterone level			TAS	TAS							OMIM:228300	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:228300	HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23					HP:0000138	Ovarian cyst			TAS	TAS							OMIM:228300	HPO:probinson	2017-05-29
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614501	PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614501	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614654	COENZYME Q10 DEFICIENCY, PRIMARY, 5					HP:0001662	Bradycardia			IEA	IEA						OMIM-CS:cardiovascularheart > BRADYCARDIA	OMIM:614654	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614654	COENZYME Q10 DEFICIENCY, PRIMARY, 5					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION	OMIM:614654	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614654	COENZYME Q10 DEFICIENCY, PRIMARY, 5					HP:0003348	Hyperalaninemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM ALANINE	OMIM:614654	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614654	COENZYME Q10 DEFICIENCY, PRIMARY, 5					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614654	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614654	COENZYME Q10 DEFICIENCY, PRIMARY, 5					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSTONIA	OMIM:614654	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614654	COENZYME Q10 DEFICIENCY, PRIMARY, 5					HP:0001298	Encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY	OMIM:614654	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614654	COENZYME Q10 DEFICIENCY, PRIMARY, 5					HP:0002093	Respiratory insufficiency			IEA	IEA						OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY	OMIM:614654	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614947	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS)	OMIM:614947	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607936	PEELING SKIN SYNDROME 4					HP:0008404	Nail dystrophy			IEA	IEA	rare					OMIM-CS:skinnailshairnails > ONYCHODYSTROPHY, MILD, OF THE TOENAILS (RARE)	OMIM:607936	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607936	PEELING SKIN SYNDROME 4					HP:0025092	Epidermal acanthosis			IEA	IEA	rare					OMIM-CS:skinnailshairskinhistology > ACANTHOSIS (IN SOME PATIENTS)	OMIM:607936	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001410	Decreased liver function			IEA	IEA	rare					OMIM-CS:abdomenliver > LIVER DYSFUNCTION (IN SOME PATIENTS)	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001397	Hepatic steatosis			IEA	IEA	rare					OMIM-CS:abdomenliver > STEATOSIS (IN SOME PATIENTS)	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0008897	Postnatal growth retardation			IEA	IEA						OMIM-CS:growthother > POSTNATAL GROWTH RETARDATION	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > SENSORINEURAL HEARING LOSS (1 PATIENT)	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY (-3 TO -5 SD)	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0002910	Elevated hepatic transaminases			IEA	IEA	rare					OMIM-CS:laboratoryabnormalities > ABNORMAL LIVER ENZYMES (IN SOME PATIENTS)	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, VARIABLE SEVERITY	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (1 PATIENT)	OMIM:617093	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617093	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY					HP:0001257	Spasticity			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (1 PATIENT)	OMIM:617093	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:255980	NASODIGITOACOUSTIC SYNDROME					HP:0009765	Low hanging columella			IEA	IEA						OMIM-CS:headandnecknose > PROMINENT COLUMELLA	OMIM:255980	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613724	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:613724	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:163050	NEVUS ANEMICUS					HP:0025105	Nevus anemicus			IEA	IEA						OMIM-CS:preferredtitle > NEVUS ANEMICUS	OMIM:163050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:163050	NEVUS ANEMICUS					HP:0025105	Nevus anemicus			IEA	IEA						OMIM-CS:skin > NEVUS ANEMICUS	OMIM:163050	HPO:skoehler	13.07.2017
...filter this Sat Jun 17 00:00:00 CEST 2017
OMIM:616738	#616738 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2					HP:0006394	Limited pronation/supination of forearm			TAS	TAS							OMIM:616738	HPO:probinson	2017-06-17
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2					HP:0001905	Congenital thrombocytopenia			IEA	IEA						OMIM-CS:hematology > THROMBOCYTOPENIA, CONGENITAL (PROGRESSES TO PANCYTOPENIA)	OMIM:616738	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616738	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603511	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E					HP:0010628	Facial palsy			IEA	IEA	rare					OMIM-CS:headandneckface > FACIAL WEAKNESS (IN SOME PATIENTS)	OMIM:603511	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603511	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E					HP:0001283	Bulbar palsy			IEA	IEA	rare					OMIM-CS:musclesofttissue > BULBAR MUSCLE WEAKNESS (IN SOME PATIENTS)	OMIM:603511	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603511	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E					HP:0002094	Dyspnea			IEA	IEA	rare					OMIM-CS:respiratory > DYSPNEA (IN SOME PATIENTS)	OMIM:603511	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603511	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E					HP:0001371	Flexion contracture			IEA	IEA	rare					OMIM-CS:skeletal > CONTRACTURES (IN SOME PATIENTS)	OMIM:603511	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614342	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30					HP:0001510	Growth delay			IEA	IEA						OMIM-CS:growthother > GROWTH RETARDATION	OMIM:614342	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614342	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, MILD	OMIM:614342	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614342	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30					HP:0000158	Macroglossia			IEA	IEA						OMIM-CS:headandneckmouth > MACROGLOSSIA	OMIM:614342	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614342	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:614342	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614342	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE	OMIM:614342	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617091	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136140	FLOATING-HARBOR SYNDROME					HP:0030424	Epididymal cyst			IEA	IEA	rare					OMIM-CS:genitourinaryinternalgenitaliamale > EPIDIDYMAL CYSTS, BILATERAL (RARE)	OMIM:136140	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136140	FLOATING-HARBOR SYNDROME					HP:0100543	Cognitive impairment			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL IMPAIRMENT, MILD (IN SOME PATIENTS)	OMIM:136140	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:268850	RICHIERI-COSTA/GUION-ALMEIDA SYNDROME					HP:0000303	Mandibular prognathia			IEA	IEA						OMIM-CS:headandneckmouth > PROMINENT MANDIBLE	OMIM:268850	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:268850	RICHIERI-COSTA/GUION-ALMEIDA SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:268850	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0001507	Growth abnormality			IEA	IEA				NOT	NOT	OMIM-CS:growthother > NORMAL GROWTH	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0000648	Optic atrophy			IEA	IEA						OMIM-CS:headandneckeyes > OPTIC ATROPHY	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > INFANTILE ONSET	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0006829	Severe muscular hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0001272	Cerebellar atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0001298	Encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0009027	Foot dorsiflexor weakness			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > FOOT DROP	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (VARIABLE SEVERITY)	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (RARE)	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0002510	Spastic tetraplegia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTIC TETRAPLEGIA	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0007269	Spinal muscular atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPINAL MUSCULAR ATROPHY	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0003477	Peripheral axonal neuropathy			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > AXONAL PERIPHERAL NEUROPATHY	OMIM:617207	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:617207	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612310	PREMATURE OVARIAN FAILURE 6					HP:0000013	Hypoplasia of the uterus			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS	OMIM:612310	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0002570	Steatorrhea			IEA	IEA						OMIM-CS:abdomengastrointestinal > STEATORRHEA (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0000511	Vertical supranuclear gaze palsy			IEA	IEA						OMIM-CS:headandneckeyes > VERTICAL GAZE PALSY, MILD (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0045014	Hypolipidemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > HYPOLIPIDEMIA (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0100512	Vitamin D deficiency			IEA	IEA						OMIM-CS:laboratoryabnormalities > VITAMIN D DEFICIENCY (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA, MILD (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT, MILD (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0001310	Dysmetria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSMETRIA, MILD (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0001256	Intellectual disability, mild			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0001350	Slurred speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SLURRED SPEECH (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617308	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY, MILD (PATIENT A)	OMIM:617308	HPO:skoehler	13.07.2017
....
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616763	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA					HP:0005484	Postnatal microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, ACQUIRED (-3 SD)	OMIM:616763	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616763	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:616763	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616763	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA					HP:0002415	Leukodystrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LEUKODYSTROPHY	OMIM:616763	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616763	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, SEVERE	OMIM:616763	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:263700	PORPHYRIA, CONGENITAL ERYTHROPOIETIC					HP:0002223	Absent eyebrow			IEA	IEA						OMIM-CS:skinnailshairhair > LOSS OF EYEBROWS	OMIM:263700	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:167700	PALMOMENTAL REFLEX					HP:0030902	Palmomental reflex			IEA	IEA						OMIM-CS:preferredtitle > PALMOMENTAL REFLEX	OMIM:167700	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616617	HEIMLER SYNDROME 2					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616617	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614892	IMMUNODEFICIENCY 31A					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE	OMIM:614892	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611603	LISSENCEPHALY 3					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:611603	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0000520	Proptosis			IEA	IEA						OMIM-CS:headandneckeyes > PROMINENT EYES	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0012471	Thick vermilion border			IEA	IEA						OMIM-CS:headandneckmouth > FULL LIPS	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0002000	Short columella			IEA	IEA						OMIM-CS:headandnecknose > SHORT COLUMELLA	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > UPTURNED NOSE	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (IN SOME PATIENTS)	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0001561	Polyhydramnios			IEA	IEA						OMIM-CS:prenatalmanifestationsamnioticfluid > POLYHYDRAMNIOS	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0002780	Bronchomalacia			IEA	IEA						OMIM-CS:respiratoryairways > BRONCHOMALACIA	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0002205	Recurrent respiratory infections			IEA	IEA						OMIM-CS:respiratoryairways > RECURRENT RESPIRATORY INFECTIONS	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0002779	Tracheomalacia			IEA	IEA						OMIM-CS:respiratoryairways > TRACHEOMALACIA	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0006530	Interstitial pulmonary abnormality			IEA	IEA						OMIM-CS:respiratorylung > INTERSTITIAL LUNG DISEASE	OMIM:617180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617180	CHITAYAT SYNDROME					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:617180	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0000358	Posteriorly rotated ears			IEA	IEA						OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0004467	Preauricular pit			IEA	IEA						OMIM-CS:headandneckears > PREAURICULAR PITS	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0000589	Coloboma			IEA	IEA						OMIM-CS:headandneckeyes > COLOBOMA	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0000586	Shallow orbits			IEA	IEA						OMIM-CS:headandneckeyes > SHALLOW ORBITS	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0002007	Frontal bossing			IEA	IEA						OMIM-CS:headandneckface > FRONTAL BOSSING	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0000347	Micrognathia			IEA	IEA						OMIM-CS:headandneckface > MICROGNATHIA (IN 1 PATIENT)	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:headandneckhead > MACROCEPHALY	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA, MILD GENERALIZED (IN 1 PATIENT)	OMIM:617306	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617306	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS					HP:0011002	Osteopetrosis			IEA	IEA						OMIM-CS:skeletal > OSTEOPETROSIS	OMIM:617306	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601829	ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE					HP:0045075	Sparse eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > SPARSE EYEBROWS	OMIM:601829	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601829	ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE					HP:0011220	Prominent forehead			IEA	IEA						OMIM-CS:headandneckface > PROMINENT FOREHEAD	OMIM:601829	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601829	ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE					HP:0000272	Malar flattening			IEA	IEA						OMIM-CS:headandneckmouth > MALAR HYPOPLASIA	OMIM:601829	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601829	ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:601829	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615031	SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE					HP:0000338	Hypomimic face			IEA	IEA						OMIM-CS:headandneckface > HYPOMIMIA	OMIM:615031	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615031	SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615031	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615031	SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:615031	HPO:skoehler	13.07.2017
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:183090	SPINOCEREBELLAR ATAXIA 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:183090	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610687	NEMALINE MYOPATHY 7					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:610687	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:121070	ARTHROGRYPOSIS, DISTAL, TYPE 2E					HP:0000211	Trismus			IEA	IEA						OMIM-CS:mouth > LIMITED JAW MOVEMENT	OMIM:121070	HPO:skoehler	13.07.2017
............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614602	TRICHOHEPATOENTERIC SYNDROME 2					HP:0040303	Decreased serum iron			IEA	IEA	rare					OMIM-CS:laboratoryabnormalities > DECREASED SERUM IRON (IN SOME PATIENTS)	OMIM:614602	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:133800	EYEBROW, WHORL IN					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:133800	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0012450	Chronic constipation			IEA	IEA						OMIM-CS:abdomengastrointestinal > CHRONIC CONSTIPATION	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR FEEDING	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0100704	Cortical visual impairment			IEA	IEA	rare					OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT (IN SOME PATIENTS)	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0000543	Optic disc pallor			IEA	IEA	rare					OMIM-CS:headandneckeyes > PALE OPTIC DISCS (IN SOME PATIENTS)	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0005484	Postnatal microcephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > MICROCEPHALY, ACQUIRED (IN SOME PATIENTS)	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA						OMIM-CS:musclesofttissue > AXIAL HYPOTONIA	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0001288	Gait disturbance			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ABNORMAL GAIT	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0001272	Cerebellar atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0002376	Developmental regression			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL REGRESSION	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0002353	EEG abnormality			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EEG ABNORMALITIES	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0200134	Epileptic encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0002521	Hypsarrhythmia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPSARRHYTHMIA	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0002540	Inability to walk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0001344	Absent speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LACK OF SPEECH	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0002070	Limb ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LIMB ATAXIA	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0010841	Multifocal epileptiform discharges			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MULTIFOCAL EPILEPTIFORM DISCHARGES	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0002465	Poor speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0001250	Seizures			IEA	IEA						MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY	OMIM:617166	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617166	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47					HP:0002133	Status epilepticus			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > STATUS EPILEPTICUS	OMIM:617166	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:314360	ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:314360	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617439	CRANIOSYNOSTOSIS 7					HP:0001363	Craniosynostosis			IEA	IEA						OMIM-CS:headandneckhead > CRANIOSYNOSTOSIS	OMIM:617439	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617439	CRANIOSYNOSTOSIS 7					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT (SEE QUALIFIER BELOW)	OMIM:617439	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617439	CRANIOSYNOSTOSIS 7					HP:0012758	Neurodevelopmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > NEURODEVELOPMENTAL DELAY	OMIM:617439	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617439	CRANIOSYNOSTOSIS 7					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY	OMIM:617439	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617439	CRANIOSYNOSTOSIS 7					HP:0001363	Craniosynostosis			IEA	IEA						OMIM-CS:skeletalskull > CRANIOSYNOSTOSIS	OMIM:617439	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609029	EMANUEL SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:609029	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613735	BRAIN MALFORMATIONS AND URINARY TRACT DEFECTS					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE PHENOTYPE	OMIM:613735	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613735	BRAIN MALFORMATIONS AND URINARY TRACT DEFECTS					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:613735	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613735	BRAIN MALFORMATIONS AND URINARY TRACT DEFECTS					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT	OMIM:613735	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:208920	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA					HP:0000726	Dementia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEMENTIA (IN A SUBSET OF PATIENTS)	OMIM:208920	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:616056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES, MULTIPLE TYPES	OMIM:616056	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615502	MENTAL RETARDATION, AUTOSOMAL DOMINANT 21					HP:0001680	Coarctation of aorta			IEA	IEA	rare					OMIM-CS:cardiovascularheart > AORTIC COARCTATION, MILD (RARE)	OMIM:615502	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615502	MENTAL RETARDATION, AUTOSOMAL DOMINANT 21					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615502	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615502	MENTAL RETARDATION, AUTOSOMAL DOMINANT 21					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:615502	HPO:skoehler	13.07.2017
..
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607341	FOCAL CORTICAL DYSPLASIA, TYPE II					HP:0001428	Somatic mutation			IEA	IEA						OMIM-CS:inheritance > SOMATIC MUTATION	OMIM:607341	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:185070	STORMORKEN SYNDROME					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:185070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:185070	STORMORKEN SYNDROME					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:185070	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:211370	BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM					HP:0002213	Fine hair			IEA	IEA						OMIM-CS:skinnailshairhair > THIN HAIR	OMIM:211370	HPO:skoehler	13.07.2017
............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615830	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4					HP:0500011	Moon facies			IEA	IEA						OMIM-CS:headandneckface > MOON FACIES	OMIM:615830	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615830	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4					HP:0025383	Dorsocervical fat pad			IEA	IEA						OMIM-CS:musclesofttissue > BUFFALO HUMP	OMIM:615830	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:277380	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614962	LEPTIN DEFICIENCY OR DYSFUNCTION					HP:0410018	Recurrent ear infections			IEA	IEA						OMIM-CS:headandneckears > RECURRENT EAR INFECTIONS	OMIM:614962	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0001647	Bicuspid aortic valve			IEA	IEA	rare					OMIM-CS:cardiovascularheart > BICUSPID AORTIC VALVE (IN SOME PATIENTS)	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0005145	Coronary artery stenosis			IEA	IEA	rare					OMIM-CS:cardiovascularheart > CORONARY ARTERY STENOSIS (IN SOME PATIENTS)	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0001920	Renal artery stenosis			IEA	IEA						OMIM-CS:cardiovascularvascular > RENAL ARTERY STENOSIS	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0100817	Renovascular hypertension			IEA	IEA						OMIM-CS:cardiovascularvascular > RENOVASCULAR HYPERTENSION	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0004325	Decreased body weight			IEA	IEA						OMIM-CS:growthweight > LOW WEIGHT	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD TO MODERATE	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0002659	Increased susceptibility to fractures			IEA	IEA						OMIM-CS:skeletal > BONE FRAGILITY	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalfeet > BRACHYDACTYLY	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0001159	Syndactyly			IEA	IEA						OMIM-CS:skeletalfeet > SYNDACTYLY	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0001159	Syndactyly			IEA	IEA						OMIM-CS:skeletalhands > SYNDACTYLY	OMIM:602531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602531	GRANGE SYNDROME					HP:0002757	Recurrent fractures			IEA	IEA						OMIM-CS:skeletallimbs > MULTIPLE FRACTURES (WITH MINIMAL TRAUMA)	OMIM:602531	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210200	3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:210200	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210200	3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:210200	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616734	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2					HP:0000767	Pectus excavatum			IEA	IEA	rare					OMIM-CS:chestexternalfeatures > PECTUS EXCAVATUM, MILD (IN SOME PATIENTS)	OMIM:616734	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616734	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2					HP:0000475	Broad neck			IEA	IEA						OMIM-CS:headandneckneck > WIDE NECK	OMIM:616734	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616734	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2					HP:0000670	Carious teeth			IEA	IEA						OMIM-CS:headandneckteeth > TOOTH DECAY	OMIM:616734	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616734	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616734	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616734	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOPLASIA OF CORPUS CALLOSUM (IN HOMOZYGOTES)	OMIM:616734	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616734	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA, MILD	OMIM:616734	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616734	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN HOMOZYGOTES)	OMIM:616734	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615112	UROFACIAL SYNDROME 2					HP:0000012	Urinary urgency			IEA	IEA						OMIM-CS:genitourinarybladder > OVERACTIVE BLADDER	OMIM:615112	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616549	KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616549	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613953	IMMUNODEFICIENCY 51					HP:0002205	Recurrent respiratory infections			IEA	IEA	rare					OMIM-CS:respiratory > RECURRENT RESPIRATORY INFECTIONS (IN SOME PATIENTS)	OMIM:613953	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000540	Hypermetropia			IEA	IEA	rare					OMIM-CS:headandneckeyes > HYPEROPIA (IN SOME PATIENTS)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000601	Hypotelorism			IEA	IEA	rare					OMIM-CS:headandneckeyes > HYPOTELORISM (IN SOME PATIENTS)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000545	Myopia			IEA	IEA	rare					OMIM-CS:headandneckeyes > MYOPIA (IN SOME PATIENTS)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0001123	Visual field defect			IEA	IEA	rare					OMIM-CS:headandneckeyes > VISUAL FIELD DEFECTS (RARE)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0002007	Frontal bossing			IEA	IEA						OMIM-CS:headandneckface > FRONTAL BOSSING	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000248	Brachycephaly			IEA	IEA						OMIM-CS:headandneckhead > BRACHYCEPHALY	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0001363	Craniosynostosis			IEA	IEA						OMIM-CS:headandneckhead > CRANIOSYNOSTOSIS	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000243	Trigonocephaly			IEA	IEA						OMIM-CS:headandneckhead > TRIGONOCEPHALY	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000244	Brachyturricephaly			IEA	IEA						OMIM-CS:headandneckhead > TURRIBRACHYCEPHALY	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000262	Turricephaly			IEA	IEA						OMIM-CS:headandneckhead > TURRICEPHALY	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000185	Cleft soft palate			IEA	IEA	rare					OMIM-CS:headandneckmouth > CLEFT SOFT PALATE (RARE)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0011069	Increased number of teeth			IEA	IEA	rare					OMIM-CS:headandneckteeth > SUPERNUMERARY TEETH (RARE)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0002315	Headache			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HEADACHES, SEVERE (IN SOME PATIENTS)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0001249	Intellectual disability			IEA	IEA				NOT	NOT	OMIM-CS:neurologiccentralnervoussystem > NORMAL INTELLIGENCE	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0001156	Brachydactyly			IEA	IEA	rare					OMIM-CS:skeletalhands > BRACHYDACTYLY (IN SOME PATIENTS)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0001199	Triphalangeal thumb			IEA	IEA	rare					OMIM-CS:skeletalhands > TRIPHALANGEAL THUMB (RARE)	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0011318	Bicoronal synostosis			IEA	IEA						OMIM-CS:skeletalskull > BICORONAL SYNOSTOSIS	OMIM:604757	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604757	CRANIOSYNOSTOSIS 2					HP:0011315	Unicoronal synostosis			IEA	IEA						OMIM-CS:skeletalskull > UNILATERAL CORONAL SUTURE SYNOSTOSIS	OMIM:604757	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201470	ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF					HP:0000590	Progressive external ophthalmoplegia			IEA	IEA	rare					OMIM-CS:headandneckeyes > EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (RARE)	OMIM:201470	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201470	ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:201470	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201470	ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:201470	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50					HP:0001903	Anemia			IEA	IEA						OMIM-CS:hematology > ANEMIA	OMIM:616457	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:616457	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50					HP:0002376	Developmental regression			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL REGRESSION (AFTER SEIZURE ONSET)	OMIM:616457	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50					HP:0200134	Epileptic encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY	OMIM:616457	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:616457	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50					HP:0002465	Poor speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH	OMIM:616457	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50					HP:0002133	Status epilepticus			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > STATUS EPILEPTICUS	OMIM:616457	HPO:skoehler	13.07.2017
..................filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:212138	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:212138	HPO:skoehler	13.07.2017
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615273	CONGENITAL DISORDER OF DEGLYCOSYLATION					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:615273	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611762	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2					HP:0000988	Skin rash			IEA	IEA						OMIM-CS:skinnailshairskin > RASH, EPISODIC	OMIM:611762	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:223370	DUBOWITZ SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:223370	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:184252	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE					HP:0003037	Enlarged joints			IEA	IEA	rare					OMIM-CS:skeletallimbs > PROMINENT JOINTS (IN SOME PATIENTS)	OMIM:184252	HPO:skoehler	13.07.2017
........
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614882	PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNWARD-SLANTING PALPEBRAL FISSURES	OMIM:614882	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614882	PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)					HP:0000347	Micrognathia			IEA	IEA						OMIM-CS:headandneckface > MICROGNATHIA	OMIM:614882	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614882	PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE	OMIM:614882	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614882	PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)					HP:0000448	Prominent nose			IEA	IEA						OMIM-CS:headandnecknose > PROMINENT NOSE	OMIM:614882	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614882	PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614882	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614882	PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)					HP:0001284	Areflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > ABSENT DEEP TENDON REFLEXES	OMIM:614882	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614882	PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)					HP:0001558	Decreased fetal movement			IEA	IEA						OMIM-CS:prenatalmanifestationsmovement > DECREASED FETAL MOVEMENT	OMIM:614882	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300209	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2					HP:0030799	Scaphocephaly			IEA	IEA						OMIM-CS:headandneckhead > SCAPHOCEPHALY	OMIM:300209	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300209	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:300209	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:309610	PRIETO X-LINKED MENTAL RETARDATION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:309610	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615809	PONTOCEREBELLAR HYPOPLASIA, TYPE 9					HP:0000377	Abnormality of the pinna			IEA	IEA						OMIM-CS:headandneckears > ABNORMALLY SHAPED EARS (FAMILY A)	OMIM:615809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615809	PONTOCEREBELLAR HYPOPLASIA, TYPE 9					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES (FAMILY A)	OMIM:615809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615809	PONTOCEREBELLAR HYPOPLASIA, TYPE 9					HP:0000341	Narrow forehead			IEA	IEA						OMIM-CS:headandneckface > BITEMPORAL NARROWING (FAMILY A)	OMIM:615809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615809	PONTOCEREBELLAR HYPOPLASIA, TYPE 9					HP:0000297	Facial hypotonia			IEA	IEA						OMIM-CS:headandneckface > HYPOTONIC FACIES (FAMILY A)	OMIM:615809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615809	PONTOCEREBELLAR HYPOPLASIA, TYPE 9					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE HYPOPLASIA (FAMILY A)	OMIM:615809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615809	PONTOCEREBELLAR HYPOPLASIA, TYPE 9					HP:0000158	Macroglossia			IEA	IEA						OMIM-CS:headandneckmouth > MACROGLOSSIA (FAMILY A)	OMIM:615809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615809	PONTOCEREBELLAR HYPOPLASIA, TYPE 9					HP:0000188	Short upper lip			IEA	IEA						OMIM-CS:headandneckmouth > SHORT UPPER LIP (FAMILY A)	OMIM:615809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615809	PONTOCEREBELLAR HYPOPLASIA, TYPE 9					HP:0003477	Peripheral axonal neuropathy			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > AXONAL NEUROPATHY (FAMILY A)	OMIM:615809	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615866	MENTAL RETARDATION, AUTOSOMAL DOMINANT 27					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:615866	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615866	MENTAL RETARDATION, AUTOSOMAL DOMINANT 27					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION	OMIM:615866	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615866	MENTAL RETARDATION, AUTOSOMAL DOMINANT 27					HP:0000232	Everted lower lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > EVERTED LOWER LIP	OMIM:615866	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615866	MENTAL RETARDATION, AUTOSOMAL DOMINANT 27					HP:0001256	Intellectual disability, mild			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD	OMIM:615866	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615866	MENTAL RETARDATION, AUTOSOMAL DOMINANT 27					HP:0030084	Clinodactyly			IEA	IEA						OMIM-CS:skeletalfeet > CLINODACTYLY	OMIM:615866	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615866	MENTAL RETARDATION, AUTOSOMAL DOMINANT 27					HP:0030084	Clinodactyly			IEA	IEA						OMIM-CS:skeletalhands > CLINODACTYLY	OMIM:615866	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0001643	Patent ductus arteriosus			IEA	IEA						OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000126	Hydronephrosis			IEA	IEA						OMIM-CS:genitourinarykidneys > HYDRONEPHROSIS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000110	Renal dysplasia			IEA	IEA						OMIM-CS:genitourinarykidneys > RENAL DYSPLASIA	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000358	Posteriorly rotated ears			IEA	IEA						OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000483	Astigmatism			IEA	IEA						OMIM-CS:headandneckeyes > ASTIGMATISM	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000518	Cataract			IEA	IEA						OMIM-CS:headandneckeyes > CATARACTS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000540	Hypermetropia			IEA	IEA						OMIM-CS:headandneckeyes > HYPERMETROPIA	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000545	Myopia			IEA	IEA						OMIM-CS:headandneckeyes > MYOPIA	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0012745	Short palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > SHORT PALPEBRAL FISSURES	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000341	Narrow forehead			IEA	IEA						OMIM-CS:headandneckface > BITEMPORAL NARROWING	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000324	Facial asymmetry			IEA	IEA						OMIM-CS:headandneckface > FACIAL ASYMMETRY	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000343	Long philtrum			IEA	IEA						OMIM-CS:headandneckface > LONG PHILTRUM	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0011220	Prominent forehead			IEA	IEA						OMIM-CS:headandneckface > PROMINENT FOREHEAD	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000319	Smooth philtrum			IEA	IEA						OMIM-CS:headandneckface > SMOOTH PHILTRUM	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000248	Brachycephaly			IEA	IEA						OMIM-CS:headandneckhead > BRACHYCEPHALY	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000431	Wide nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > BROAD NASAL BRIDGE	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000414	Bulbous nose			IEA	IEA						OMIM-CS:headandnecknose > BULBOUS NOSE	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > LOW NASAL BRIDGE	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000448	Prominent nose			IEA	IEA						OMIM-CS:headandnecknose > PROMINENT NOSE	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000164	Abnormality of the dentition			IEA	IEA						OMIM-CS:headandneckteeth > TOOTH ABNORMALITIES	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > HIGHLY VARIABLE PHENOTYPE	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0002098	Respiratory distress	HP:0003623	Neonatal onset	IEA	IEA						OMIM-CS:respiratory > BREATHING DIFFICULTIES, NEONATAL	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0001388	Joint laxity			IEA	IEA						OMIM-CS:skeletal > JOINT LAXITY	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0001761	Pes cavus			IEA	IEA						OMIM-CS:skeletalfeet > PES CAVUS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0001773	Short foot			IEA	IEA						OMIM-CS:skeletalfeet > SMALL FEET	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0200055	Small hand			IEA	IEA						OMIM-CS:skeletalhands > SMALL HANDS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0001182	Tapered finger			IEA	IEA						OMIM-CS:skeletalhands > TAPERING FINGERS	OMIM:300968	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300968	MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED					HP:0002827	Hip dislocation			IEA	IEA						OMIM-CS:skeletalpelvis > HIP DISLOCATION	OMIM:300968	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611376	MUNGAN SYNDROME					HP:0030996	Megaduodenum			IEA	IEA						OMIM-CS:abdomengastrointestinal > MEGADUODENUM	OMIM:611376	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617024	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H					HP:0000540	Hypermetropia			IEA	IEA	rare					OMIM-CS:headandneckeyes > HYPEROPIA (IN SOME PATIENTS)	OMIM:617024	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617024	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H					HP:0000662	Nyctalopia			IEA	IEA						OMIM-CS:headandneckeyes > NIGHT BLINDNESS (CHILDHOOD ONSET)	OMIM:617024	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617024	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPHOBIA (IN OLDER PATIENTS)	OMIM:617024	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617024	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617024	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614052	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2					HP:0002578	Gastroparesis			IEA	IEA						OMIM-CS:abdomengastrointestinal > DELAYED GASTRIC EMPTYING	OMIM:614052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614052	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > UPTURNED NARES	OMIM:614052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614052	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614052	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613001	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT (VSD)	OMIM:613001	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613001	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS					HP:0001442	Somatic mosaicism			IEA	IEA						OMIM-CS:inheritance > SOMATIC MOSAICISM	OMIM:613001	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:211750	C SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:211750	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300864	CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:300864	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617023	RETINITIS PIGMENTOSA 75					HP:0000545	Myopia			IEA	IEA						OMIM-CS:headandneckeyes > MYOPIA (IN 1 PATIENT)	OMIM:617023	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617023	RETINITIS PIGMENTOSA 75					HP:0000662	Nyctalopia			IEA	IEA						OMIM-CS:headandneckeyes > NIGHT BLINDNESS	OMIM:617023	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617023	RETINITIS PIGMENTOSA 75					HP:0007994	Peripheral visual field loss			IEA	IEA						OMIM-CS:headandneckeyes > TUNNEL VISION	OMIM:617023	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617023	RETINITIS PIGMENTOSA 75					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617023	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609621	SHORT QT SYNDROME 2					HP:0001662	Bradycardia			IEA	IEA						OMIM-CS:cardiovascularheart > BRADYCARDIA	OMIM:609621	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609621	SHORT QT SYNDROME 2					HP:0001663	Ventricular fibrillation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > VENTRICULAR FIBRILLATION (IN SOME PATIENTS)	OMIM:609621	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612337	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:612337	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612337	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:612337	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING PROBLEMS	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0001639	Hypertrophic cardiomyopathy			IEA	IEA						OMIM-CS:cardiovascularheart > HYPERTROPHIC CARDIOMYOPATHY	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0030682	Left ventricular noncompaction			IEA	IEA						OMIM-CS:cardiovascularheart > LEFT VENTRICULAR NONCOMPACTION	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0000518	Cataract			IEA	IEA	rare					OMIM-CS:headandneckeyes > CATARACT (IN SOME PATIENTS)	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0000252	Microcephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS)	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0003348	Hyperalaninemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM ALANINE	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0002151	Increased serum lactate			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM LACTATE	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0003128	Lactic acidosis			IEA	IEA						OMIM-CS:metabolicfeatures > LACTIC ACIDOSIS	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0001276	Hypertonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERTONIA	OMIM:617228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617228	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN MOST PATIENTS)	OMIM:617228	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0002019	Constipation			IEA	IEA						OMIM-CS:abdomengastrointestinal > CONSTIPATION	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0001671	Abnormality of the cardiac septa			IEA	IEA	rare					OMIM-CS:cardiovascularheart > SEPTAL DEFECTS (IN SOME PATIENTS)	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000545	Myopia			IEA	IEA						OMIM-CS:headandneckeyes > MYOPIA	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000508	Ptosis			IEA	IEA						OMIM-CS:headandneckeyes > PTOSIS	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0002714	Downturned corners of mouth			IEA	IEA						OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF THE MOUTH	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > THIN UPPER LIP	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000154	Wide mouth			IEA	IEA						OMIM-CS:headandneckmouth > WIDE MOUTH	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000699	Diastema			IEA	IEA						OMIM-CS:headandneckteeth > DIASTEMA	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000718	Aggressive behavior			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AGGRESSIVE BEHAVIOR	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0001321	Cerebellar hypoplasia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN SOME PATIENTS)	OMIM:615009	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615009	SCHUURS-HOEIJMAKERS SYNDROME					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LANGUAGE DELAY	OMIM:615009	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615300	PERRAULT SYNDROME 4					HP:0000013	Hypoplasia of the uterus			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS	OMIM:615300	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616648	OPTIC ATROPHY 8					HP:0001653	Mitral regurgitation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > MITRAL VALVE INSUFFICIENCY (IN SOME PATIENTS)	OMIM:616648	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616648	OPTIC ATROPHY 8					HP:0000572	Visual loss			IEA	IEA						OMIM-CS:headandneckeyes > VISUAL LOSS	OMIM:616648	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616625	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616625	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616625	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:616625	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0011675	Arrhythmia			IEA	IEA	rare					OMIM-CS:cardiovascularheart > ARRHYTHMIAS (IN SOME PATIENTS)	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0001662	Bradycardia			IEA	IEA	rare					OMIM-CS:cardiovascularheart > BRADYCARDIA (IN SOME PATIENTS)	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0011704	Sick sinus syndrome			IEA	IEA	rare					OMIM-CS:cardiovascularheart > SICK SINUS SYNDROME (IN SOME PATIENTS)	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS)	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0007018	Attention deficit hyperactivity disorder			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > ATTENTION DEFICIT	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0000752	Hyperactivity			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0001263	Global developmental delay			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY (IN SOME PATIENTS)	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0001249	Intellectual disability			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (IN SOME PATIENTS)	OMIM:617182	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617182	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY	OMIM:617182	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604290	ACERULOPLASMINEMIA					HP:0040303	Decreased serum iron			IEA	IEA						OMIM-CS:laboratoryabnormalities > DECREASED SERUM IRON	OMIM:604290	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604290	ACERULOPLASMINEMIA					HP:0025498	Aceruloplasminemia			IEA	IEA						OMIM-CS:preferredtitle > ACERULOPLASMINEMIA	OMIM:604290	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:164400	SPINOCEREBELLAR ATAXIA 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:164400	HPO:skoehler	13.07.2017
..
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602501	MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:602501	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614749	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614749	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614749	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2					HP:0011326	Anterior plagiocephaly			IEA	IEA	rare					OMIM-CS:skeletalskull > CORONAL SYNOSTOSIS (1 PATIENT)	OMIM:614749	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:180750	ROBINOW-SORAUF SYNDROME					HP:0012368	Flat face			IEA	IEA						OMIM-CS:facies > FLAT FACIES	OMIM:180750	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:223900	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOTONIA	OMIM:223900	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615159	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:615159	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615877	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME					HP:0000518	Cataract			IEA	IEA						OMIM-CS:headandneckeyes > CATARACT	OMIM:615877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615877	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME					HP:0009918	Ectopia pupillae			IEA	IEA						OMIM-CS:headandneckeyes > CORECTOPIA	OMIM:615877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615877	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:615877	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616818	IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:616818	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136880	FUNDUS ALBIPUNCTATUS					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:136880	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136880	FUNDUS ALBIPUNCTATUS					HP:0030642	Fundus albipunctatus			IEA	IEA						OMIM-CS:preferredtitle > FUNDUS ALBIPUNCTATUS	OMIM:136880	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611544	CATARACT 17, MULTIPLE TYPES					HP:0000646	Amblyopia			IEA	IEA	rare					OMIM-CS:headandneckeyes > AMBLYOPIA (IN SOME PATIENTS)	OMIM:611544	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611544	CATARACT 17, MULTIPLE TYPES					HP:0000482	Microcornea			IEA	IEA	rare					OMIM-CS:headandneckeyes > MICROCORNEA (IN SOME PATIENTS)	OMIM:611544	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611544	CATARACT 17, MULTIPLE TYPES					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:611544	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611544	CATARACT 17, MULTIPLE TYPES					HP:0010693	Pulverulent cataract			IEA	IEA						OMIM-CS:headandneckeyes > PULVERULENT CATARACT	OMIM:611544	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611544	CATARACT 17, MULTIPLE TYPES					HP:0007663	Reduced visual acuity			IEA	IEA						OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY	OMIM:611544	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611544	CATARACT 17, MULTIPLE TYPES					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:611544	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607278	OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO					HP:0000767	Pectus excavatum			IEA	IEA	rare					OMIM-CS:chestexternalfeatures > PECTUS EXCAVATUM (IN SOME PATIENTS)	OMIM:607278	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607278	OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:607278	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607278	OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO					HP:0003038	Fibular hypoplasia			IEA	IEA	rare					OMIM-CS:skeletallimbs > FIBULAR HYPOPLASIA (IN SOME PATIENTS)	OMIM:607278	HPO:skoehler	13.07.2017
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615688	POLYARTERITIS NODOSA, CHILDHOOD-ONSET					HP:0002027	Abdominal pain			IEA	IEA						OMIM-CS:abdomengastrointestinal > GASTROINTESTINAL PAIN	OMIM:615688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615688	POLYARTERITIS NODOSA, CHILDHOOD-ONSET					HP:0025343	Lupus anticoagulant			IEA	IEA	rare					OMIM-CS:hematology > LUPUS ANTICOAGULANT (IN SOME PATIENTS)	OMIM:615688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615688	POLYARTERITIS NODOSA, CHILDHOOD-ONSET					HP:0030880	Raynaud phenomenon			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > RAYNAUD PHENOMENON	OMIM:615688	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617100	FAMILIAL ADENOMATOUS POLYPOSIS 4					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617100	FAMILIAL ADENOMATOUS POLYPOSIS 4					HP:0009592	Astrocytoma			IEA	IEA						OMIM-CS:neoplasia > ASTROCYTOMA	OMIM:617100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617100	FAMILIAL ADENOMATOUS POLYPOSIS 4					HP:0012126	Stomach cancer			IEA	IEA						OMIM-CS:neoplasia > GASTRIC CANCER	OMIM:617100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617100	FAMILIAL ADENOMATOUS POLYPOSIS 4					HP:0000854	Thyroid adenoma			IEA	IEA						OMIM-CS:neoplasia > THYROID ADENOMA	OMIM:617100	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614541	CHROMOSOME 16Q22 DELETION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614541	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616277	MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616277	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616277	MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSTONIA	OMIM:616277	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617252	UNCOMBABLE HAIR SYNDROME 3					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617252	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617252	UNCOMBABLE HAIR SYNDROME 3					HP:0002235	Pili canaliculi			IEA	IEA						OMIM-CS:skinnailshairhair > PILI CANALICULI (SEEN ON SCANNING EM OF HAIR SHAFT CROSS-SECTION)	OMIM:617252	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617252	UNCOMBABLE HAIR SYNDROME 3					HP:0030056	Uncombable hair			IEA	IEA						OMIM-CS:skinnailshairhair > UNCOMBABLE HAIR	OMIM:617252	HPO:skoehler	13.07.2017
.......filter this Sun Sep 17 00:00:00 CEST 2017
OMIM:233700	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE I					HP:0100658	Cellulitis			TAS	TAS							OMIM:233700	HPO:probinson	2017-09-17
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612075	MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:612075	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616459	AL-RAQAD SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616459	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:177900	PSORIASIS 1, SUSCEPTIBILITY TO					HP:0025088	Onychomadesis			IEA	IEA						OMIM-CS:skinnailshairnails > ONYCHOMADESIS	OMIM:177900	HPO:skoehler	13.07.2017
......
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611721	COMBINED SAPOSIN DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:611721	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616355	MENTAL RETARDATION, AUTOSOMAL DOMINANT 35					HP:0000297	Facial hypotonia			IEA	IEA						OMIM-CS:headandneckface > HYPOTONIC FACIES	OMIM:616355	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616355	MENTAL RETARDATION, AUTOSOMAL DOMINANT 35					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616355	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300373	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (IN MALES)	OMIM:300373	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:257220	NIEMANN-PICK DISEASE, TYPE C1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:257220	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614563	MENTAL RETARDATION, AUTOSOMAL DOMINANT 13					HP:0001999	Abnormal facial shape			IEA	IEA	rare					OMIM-CS:headandneckface > FACIAL DYSMORPHISM, MILD (IN SOME PATIENTS)	OMIM:614563	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300659	MENTAL RETARDATION, X-LINKED 93					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:300659	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613909	SPINOCEREBELLAR ATAXIA 32					HP:0000027	Azoospermia			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > AZOOSPERMIA	OMIM:613909	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613909	SPINOCEREBELLAR ATAXIA 32					HP:0000789	Infertility			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > INFERTILITY	OMIM:613909	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613909	SPINOCEREBELLAR ATAXIA 32					HP:0000029	Testicular atrophy			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > TESTICULAR ATROPHY	OMIM:613909	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613909	SPINOCEREBELLAR ATAXIA 32					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:613909	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613909	SPINOCEREBELLAR ATAXIA 32					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATAXIA	OMIM:613909	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613909	SPINOCEREBELLAR ATAXIA 32					HP:0001272	Cerebellar atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY	OMIM:613909	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616922	STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2					HP:0003680	Nonprogressive			IEA	IEA						OMIM-CS:miscellaneous > NONPROGRESSIVE	OMIM:616922	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601559	STUVE-WIEDEMANN SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:601559	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601559	STUVE-WIEDEMANN SYNDROME					HP:0003037	Enlarged joints			IEA	IEA						OMIM-CS:skeletallimbs > PROMINENT JOINTS (IN OLDER CHILDREN)	OMIM:601559	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614856	OSTEOGENESIS IMPERFECTA, TYPE XIII					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS)	OMIM:614856	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617223	SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED					HP:0001685	Myocardial fibrosis			IEA	IEA						OMIM-CS:cardiovascularheart > MYOCARDIAL FIBROSIS	OMIM:617223	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617223	SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617223	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:274270	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:274270	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0009025	Increased connective tissue			IEA	IEA						OMIM-CS:musclesofttissue > INCREASED CONNECTIVE TISSUE	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0003202	Skeletal muscle atrophy			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE ATROPHY	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0001284	Areflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > AREFLEXIA	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0001265	Hyporeflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0009130	Hand muscle atrophy			IEA	IEA						OMIM-CS:skeletalhands > HAND MUSCLE ATROPHY	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0031189	Wrist drop			IEA	IEA						OMIM-CS:skeletalhands > WRIST DROP	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0003307	Hyperlordosis			IEA	IEA						OMIM-CS:skeletalspine > LORDOSIS	OMIM:616852	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616852	MYOPATHY, SCAPULOHUMEROPERONEAL					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:616852	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601351	GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:601351	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601351	GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION					HP:0000307	Pointed chin			IEA	IEA						OMIM-CS:headandneckface > POINTED CHIN	OMIM:601351	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601351	GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION					HP:0000325	Triangular face			IEA	IEA						OMIM-CS:headandneckface > TRIANGULAR FACE	OMIM:601351	HPO:skoehler	13.07.2017
............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613177	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC					HP:0100539	Periorbital edema			IEA	IEA						OMIM-CS:headandneckeyes > PERIORBITAL SWELLING	OMIM:613177	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613177	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > LOW MUSCLE TONE	OMIM:613177	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612965	46,XY SEX REVERSAL 3					HP:0008232	Elevated follicle stimulating hormone			IEA	IEA						OMIM-CS:endocrinefeatures > ELEVATED FOLLICLE-STIMULATING HORMONE (FSH)	OMIM:612965	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612965	46,XY SEX REVERSAL 3					HP:0011969	Elevated luteinizing hormone			IEA	IEA						OMIM-CS:endocrinefeatures > ELEVATED LUTEINIZING HORMONE (LH)	OMIM:612965	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612965	46,XY SEX REVERSAL 3					HP:0008665	Clitoral hypertrophy			IEA	IEA	rare					OMIM-CS:genitourinaryexternalgenitaliafemale > HYPERTROPHIC CLITORIS (IN SOME PATIENTS)	OMIM:612965	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612965	46,XY SEX REVERSAL 3					HP:0000062	Ambiguous genitalia			IEA	IEA	rare					OMIM-CS:genitourinaryexternalgenitaliamale > AMBIGUOUS EXTERNAL GENITALIA (IN SOME PATIENTS)	OMIM:612965	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612965	46,XY SEX REVERSAL 3					HP:0000808	Penoscrotal hypospadias			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > PENOSCROTAL HYPOSPADIAS	OMIM:612965	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612965	46,XY SEX REVERSAL 3					HP:0000013	Hypoplasia of the uterus			IEA	IEA	rare					OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS (IN SOME PATIENTS)	OMIM:612965	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:123500	CROUZON SYNDROME					HP:0100621	Dysgerminoma			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliafemale > DYSGERMINOMA (IN 1 PATIENT)	OMIM:123500	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601353	BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:601353	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611174	HAMAMY SYNDROME					HP:0000347	Micrognathia			IEA	IEA	rare					OMIM-CS:headandneckface > MICROGNATHIA, MILD (IN SOME PATIENTS)	OMIM:611174	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608363	CHROMOSOME 22Q11.2 DUPLICATION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:608363	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603678	DEAFNESS, AUTOSOMAL RECESSIVE 14					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:603678	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616795	SPINOCEREBELLAR ATAXIA 42					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOW PROGRESSION	OMIM:616795	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616795	SPINOCEREBELLAR ATAXIA 42					HP:0001347	Hyperreflexia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA (IN SOME PATIENTS)	OMIM:616795	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616795	SPINOCEREBELLAR ATAXIA 42					HP:0031166	Eyelid myokymia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > MYOKYMIA ORBICULARIS (IN SOME PATIENTS)	OMIM:616795	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616795	SPINOCEREBELLAR ATAXIA 42					HP:0001337	Tremor			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > TREMOR (IN SOME PATIENTS)	OMIM:616795	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615696	DOWLING-DEGOS DISEASE 4					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MILD	OMIM:615696	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614083	FANCONI ANEMIA, COMPLEMENTATION GROUP L					HP:0040012	Chromosome breakage			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED CHROMOSOMAL BREAKAGE	OMIM:614083	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300200	ADRENAL HYPOPLASIA, CONGENITAL					HP:0000826	Precocious puberty			IEA	IEA						OMIM-CS:endocrinefeatures > PRECOCIOUS PUBERTY	OMIM:300200	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300200	ADRENAL HYPOPLASIA, CONGENITAL					HP:0000027	Azoospermia			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > AZOOSPERMIA	OMIM:300200	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300200	ADRENAL HYPOPLASIA, CONGENITAL					HP:0000798	Oligospermia			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > OLIGOSPERMIA	OMIM:300200	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:203740	ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neuro > HYPOTONIA	OMIM:203740	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614526	CHROMOSOME 17Q12 DUPLICATION SYNDROME					HP:0000297	Facial hypotonia			IEA	IEA	rare					OMIM-CS:headandneckface > HYPOTONIC FACIES (RARE)	OMIM:614526	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614526	CHROMOSOME 17Q12 DUPLICATION SYNDROME					HP:0001156	Brachydactyly			IEA	IEA	rare					OMIM-CS:skeletalhands > BRACHYDACTYLY, MILD (RARE)	OMIM:614526	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600092	CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:600092	HPO:skoehler	13.07.2017
.
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:119100	SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1					HP:0009460	Aplasia of the 3rd finger			IEA	IEA						OMIM-CS:limbs > ABSENT MIDDLE FINGER	OMIM:119100	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601198	HYPOCALCEMIA, AUTOSOMAL DOMINANT 1					HP:0025425	Laryngospasm			IEA	IEA	rare					OMIM-CS:respiratorylarynx > LARYNGOSPASM (RARE)	OMIM:601198	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610688	JOUBERT SYNDROME 6					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:610688	HPO:skoehler	13.07.2017
...............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:252650	MUCOLIPIDOSIS IV					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:252650	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613309	DIAMOND-BLACKFAN ANEMIA 10					HP:0000475	Broad neck			IEA	IEA	rare					OMIM-CS:headandneckneck > WIDE NECK (IN SOME PATIENTS)	OMIM:613309	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613280	HYPERMANGANESEMIA WITH DYSTONIA 1					HP:0025196	Increased total iron binding capacity			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED TOTAL IRON BINDING CAPACITY	OMIM:613280	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613280	HYPERMANGANESEMIA WITH DYSTONIA 1					HP:0007010	Poor fine motor coordination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > FINE MOTOR IMPAIRMENT	OMIM:613280	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:124000	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:124000	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600145	SACRAL DEFECT WITH ANTERIOR MENINGOCELE					HP:0025247	Dermoid cyst			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DERMOID CYST	OMIM:600145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600145	SACRAL DEFECT WITH ANTERIOR MENINGOCELE					HP:0009790	Hemisacrum			IEA	IEA						OMIM-CS:skeletalspine > HEMISACRUM	OMIM:600145	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615528	PARKINSON DISEASE 19A, JUVENILE-ONSET					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE (PARK19B)	OMIM:615528	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615528	PARKINSON DISEASE 19A, JUVENILE-ONSET					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT (IN 1 PATIENT WITH PARK19A)	OMIM:615528	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615528	PARKINSON DISEASE 19A, JUVENILE-ONSET					HP:0000738	Hallucinations			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HALLUCINATIONS (IN 1 PATIENT WITH PARK19A)	OMIM:615528	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615528	PARKINSON DISEASE 19A, JUVENILE-ONSET					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (IN 1 PATIENT WITH PARK19A)	OMIM:615528	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616866	SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN UTERO	OMIM:616866	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616866	SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, GENERALIZED, SEVERE	OMIM:616866	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616866	SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1					HP:0007269	Spinal muscular atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPINAL MUSCULAR ATROPHY	OMIM:616866	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0000365	Hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > HEARING IMPAIRMENT (IN SOME PATIENTS)	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0000648	Optic atrophy			IEA	IEA						OMIM-CS:headandneckeyes > OPTIC ATROPHY	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0000543	Optic disc pallor			IEA	IEA						OMIM-CS:headandneckeyes > PALE OPTIC DISCS	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0002194	Delayed gross motor development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED GROSS MOTOR DEVELOPMENT	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0002355	Difficulty walking			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DIFFICULTY WALKING	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0009027	Foot dorsiflexor weakness			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > FOOT DROP	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0003477	Peripheral axonal neuropathy			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > AXONAL NEUROPATHY	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0002936	Distal sensory impairment			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > DISTAL SENSORY IMPAIRMENT	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0001265	Hyporeflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0002747	Respiratory insufficiency due to muscle weakness			IEA	IEA	rare					OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS (IN SOME PATIENTS)	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0001761	Pes cavus			IEA	IEA						OMIM-CS:skeletalfeet > PES CAVUS	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0002808	Kyphosis			IEA	IEA						OMIM-CS:skeletalspine > KYPHOSIS	OMIM:617087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617087	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:617087	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617205	HETEROTAXY, VISCERAL, 8, AUTOSOMAL					HP:0003363	Abdominal situs inversus			IEA	IEA						OMIM-CS:abdomen > SITUS INVERSUS VISCERUM	OMIM:617205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617205	HETEROTAXY, VISCERAL, 8, AUTOSOMAL					HP:0011539	Atrial situs ambiguous			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SITUS AMBIGUUS	OMIM:617205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617205	HETEROTAXY, VISCERAL, 8, AUTOSOMAL					HP:0001719	Double outlet right ventricle			IEA	IEA						OMIM-CS:cardiovascularheart > DOUBLE OUTLET RIGHT VENTRICLE	OMIM:617205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617205	HETEROTAXY, VISCERAL, 8, AUTOSOMAL					HP:0004935	Pulmonary artery atresia			IEA	IEA						OMIM-CS:cardiovascularheart > PULMONARY ATRESIA	OMIM:617205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617205	HETEROTAXY, VISCERAL, 8, AUTOSOMAL					HP:0011579	Unbalanced atrioventricular canal defect			IEA	IEA						OMIM-CS:cardiovascularheart > UNBALANCED ATRIOVENTRICULAR SEPTAL DEFECT	OMIM:617205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617205	HETEROTAXY, VISCERAL, 8, AUTOSOMAL					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:617205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617205	HETEROTAXY, VISCERAL, 8, AUTOSOMAL					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617205	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:580000	DEAFNESS, AMINOGLYCOSIDE-INDUCED					HP:0001427	Mitochondrial inheritance			IEA	IEA						OMIM-CS:inheritance > MITOCHONDRIAL	OMIM:580000	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:179613	RECOMBINANT CHROMOSOME 8 SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:179613	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616683	LEUKODYSTROPHY, HYPOMYELINATING, 12					HP:0000365	Hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS	OMIM:616683	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616683	LEUKODYSTROPHY, HYPOMYELINATING, 12					HP:0100704	Cortical visual impairment			IEA	IEA						OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT	OMIM:616683	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616683	LEUKODYSTROPHY, HYPOMYELINATING, 12					HP:0002459	Dysautonomia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > AUTONOMIC DYSFUNCTION	OMIM:616683	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616683	LEUKODYSTROPHY, HYPOMYELINATING, 12					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION	OMIM:616683	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616683	LEUKODYSTROPHY, HYPOMYELINATING, 12					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:616683	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615225	PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:headandneckeyes > ACANTHOSIS	OMIM:615225	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615225	PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING					HP:0002860	Squamous cell carcinoma			IEA	IEA						OMIM-CS:neoplasia > SQUAMOUS CELL CARCINOMA	OMIM:615225	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615225	PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING					HP:0007502	Follicular hyperkeratosis			IEA	IEA						OMIM-CS:skinnailshairskin > FOLLICULAR HYPERKERATOSIS	OMIM:615225	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615225	PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING					HP:0040180	Hyperkeratosis pilaris			IEA	IEA	rare					OMIM-CS:skinnailshairskin > HYPERKERATOSIS PILARIS (IN SOME PATIENTS)	OMIM:615225	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613617	RETINITIS PIGMENTOSA 58					HP:0007994	Peripheral visual field loss			IEA	IEA						OMIM-CS:headandneckeyes > LOSS OF PERIPHERAL VISION	OMIM:613617	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616531	POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616531	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616531	POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN UTERO	OMIM:616531	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610017	MULTIPLE SYNOSTOSES SYNDROME 2					HP:0001762	Talipes equinovarus			IEA	IEA	rare					OMIM-CS:skeletalfeet > TALIPES EQUINOVARUS (IN SOME PATIENTS)	OMIM:610017	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610017	MULTIPLE SYNOSTOSES SYNDROME 2					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:610017	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610017	MULTIPLE SYNOSTOSES SYNDROME 2					HP:0100264	Proximal symphalangism			IEA	IEA						OMIM-CS:skeletalhands > PROXIMAL SYMPHALANGISM	OMIM:610017	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614669	AURICULOCONDYLAR SYNDROME 2					HP:0025267	Snoring			IEA	IEA						OMIM-CS:respiratory > SNORING	OMIM:614669	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:271665	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:271665	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:268300	ROBERTS SYNDROME					HP:0030721	Tetraphocomelia			IEA	IEA						OMIM-CS:skeletallimbs > TETRAPHOCOMELIA	OMIM:268300	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:122100	CORNEAL DYSTROPHY, MEESMANN					HP:0007663	Reduced visual acuity			IEA	IEA						OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY (ALTHOUGH VISION RARELY SERIOUSLY IMPAIRED)	OMIM:122100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:122100	CORNEAL DYSTROPHY, MEESMANN					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPHOBIA	OMIM:122100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:122100	CORNEAL DYSTROPHY, MEESMANN					HP:0009926	Increased lacrimation			IEA	IEA						OMIM-CS:headandneckeyes > TEARING	OMIM:122100	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614565	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E					HP:0000545	Myopia			IEA	IEA						OMIM-CS:headandneckeyes > MYOPIA, MILD TO SEVERE	OMIM:614565	HPO:skoehler	13.07.2017
.
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:109900	BLEPHAROCHALASIS AND DOUBLE LIP					HP:0040295	Duplication of the upper lip			IEA	IEA						OMIM-CS:mouth > DOUBLE UPPER LIP	OMIM:109900	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0000280	Coarse facial features			IEA	IEA						OMIM-CS:headandneckface > COARSE FACIES	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, BORDERLINE (-2.1 TO -3.3 SD)	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0100702	Arachnoid cyst			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ARACHNOID CYSTS	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0002187	Intellectual disability, profound			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, PROFOUND	OMIM:617051	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > VENTRICULOMEGALY	OMIM:617051	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:235255	MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:235255	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0000023	Inguinal hernia			IEA	IEA						OMIM-CS:abdomengastrointestinal > INGUINAL HERNIA (IN 1 PATIENT)	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0000098	Tall stature			IEA	IEA	rare					OMIM-CS:growthheight > TALL STATURE (IN SOME PATIENTS)	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0000225	Gingival bleeding			IEA	IEA						OMIM-CS:headandneckmouth > GINGIVAL BLEEDING	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0030816	Gingival recession			IEA	IEA						OMIM-CS:headandneckmouth > GINGIVAL RECESSION	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0410027	Alveolar bone loss around teeth			IEA	IEA						OMIM-CS:headandneckteeth > ALVEOLAR BONE LOSS AROUND TEETH	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0002960	Autoimmunity			IEA	IEA						OMIM-CS:immunology > AUTOIMMUNE DISORDERS (IN 1 FAMILY)	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0002719	Recurrent infections			IEA	IEA	rare					OMIM-CS:immunology > RECURRENT INFECTIONS (IN SOME PATIENTS)	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0001166	Arachnodactyly			IEA	IEA	rare					OMIM-CS:skeletalhands > ARACHNODACTYLY (IN SOME PATIENTS)	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0002761	Generalized joint laxity			IEA	IEA	rare					OMIM-CS:skeletallimbs > GENERALIZED JOINT LAXITY, MILD (IN SOME PATIENTS)	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0002650	Scoliosis			IEA	IEA	rare					OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS)	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0001075	Atrophic scars			IEA	IEA						OMIM-CS:skinnailshairskin > ATROPHIC SCARS	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0000977	Soft skin			IEA	IEA						OMIM-CS:skinnailshairskin > SOFT SKIN	OMIM:130080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130080	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1					HP:0001609	Hoarse voice			IEA	IEA						OMIM-CS:voice > HOARSE VOICE	OMIM:130080	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000104	Renal agenesis			IEA	IEA						OMIM-CS:genitourinarykidneys > RENAL APLASIA (2 FAMILIES)	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:headandneckears > LARGE EARS	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000340	Sloping forehead			IEA	IEA						OMIM-CS:headandneckface > SLOPING FOREHEAD	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY (UP TO -11 SD)	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0012471	Thick vermilion border			IEA	IEA						OMIM-CS:headandneckmouth > THICK LIPS	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000414	Bulbous nose			IEA	IEA						OMIM-CS:headandnecknose > BULBOUS NOSE	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN UTERO	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001274	Agenesis of corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > AGENESIS OF THE CORPUS CALLOSUM	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0002365	Hypoplasia of the brainstem			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BRAINSTEM HYPOPLASIA	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001321	Cerebellar hypoplasia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENLARGED VENTRICLES	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001347	Hyperreflexia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (RARE)	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0009879	Cortical gyral simplification			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SIMPLIFIED GYRAL PATTERN	OMIM:617090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617090	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY	OMIM:617090	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0000297	Facial hypotonia			IEA	IEA						OMIM-CS:headandneckface > HYPOTONIC FACIES	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0000194	Open mouth			IEA	IEA						OMIM-CS:headandneckmouth > OPEN MOUTH	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0002446	Astrocytosis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ASTROCYTOSIS	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0002355	Difficulty walking			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DIFFICULTY WALKING	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0002540	Inability to walk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0001250	Seizures			IEA	IEA						MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > VENTRICULOMEGALY	OMIM:611087	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY					HP:0001388	Joint laxity			IEA	IEA	rare					OMIM-CS:skeletal > JOINT LAXITY (1 PATIENT)	OMIM:611087	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602080	PAGET DISEASE OF BONE 2, EARLY-ONSET					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:602080	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602080	PAGET DISEASE OF BONE 2, EARLY-ONSET					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:602080	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:107650	APNEA, OBSTRUCTIVE SLEEP					HP:0025267	Snoring			IEA	IEA						OMIM-CS:resp > SNORING	OMIM:107650	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610031	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > HIGHLY VARIABLE SEVERITY	OMIM:610031	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610031	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7					HP:0001339	Lissencephaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LISSENCEPHALY	OMIM:610031	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:headandneckears > MACROTIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000646	Amblyopia			IEA	IEA						OMIM-CS:headandneckeyes > AMBLYOPIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000540	Hypermetropia			IEA	IEA						OMIM-CS:headandneckeyes > HYPERMETROPIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000545	Myopia			IEA	IEA						OMIM-CS:headandneckeyes > MYOPIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000648	Optic atrophy			IEA	IEA						OMIM-CS:headandneckeyes > OPTIC ATROPHY	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000505	Visual impairment			IEA	IEA						OMIM-CS:headandneckeyes > VISUAL IMPAIRMENT	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0001349	Facial diplegia			IEA	IEA						OMIM-CS:headandneckface > FACIAL DIPLEGIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE RETRUSION	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:headandneckhead > MACROCEPHALY	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS)	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0000752	Hyperactivity			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0012444	Brain atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BRAIN ATROPHY	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0001321	Cerebellar hypoplasia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0001310	Dysmetria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSMETRIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0002487	Hyperkinesis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERKINESIA	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:617302	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617302	OPTIC ATROPHY 11					HP:0002352	Leukoencephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LEUKOENCEPHALOPATHY	OMIM:617302	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615398	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3					HP:0000071	Ureteral stenosis			IEA	IEA						OMIM-CS:genitourinaryureters > URETERAL STENOSIS	OMIM:615398	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615398	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3					HP:0002714	Downturned corners of mouth			IEA	IEA						OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF THE MOUTH	OMIM:615398	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615398	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE	OMIM:615398	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615398	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615398	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615398	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3					HP:0000939	Osteoporosis			IEA	IEA						OMIM-CS:skeletal > OSTEOPOROSIS	OMIM:615398	HPO:skoehler	13.07.2017
..................filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0001653	Mitral regurgitation			IEA	IEA						OMIM-CS:cardiovascularheart > MITRAL VALVE INSUFFICIENCY, MILD	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0002647	Aortic dissection			IEA	IEA	rare					OMIM-CS:cardiovascularvascular > AORTIC DISSECTION (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0004944	Dilatation of the cerebral artery			IEA	IEA	rare					OMIM-CS:cardiovascularvascular > CEREBRAL ANEURYSM (RARE)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0004937	Pulmonary artery aneurysm			IEA	IEA	rare					OMIM-CS:cardiovascularvascular > PULMONARY ARTERY ANEURYSM (RARE)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0000520	Proptosis			IEA	IEA						OMIM-CS:headandneckeyes > PROPTOSIS	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0002007	Frontal bossing			IEA	IEA						OMIM-CS:headandneckface > FRONTAL BOSSING	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0000272	Malar flattening			IEA	IEA						OMIM-CS:headandneckface > MALAR HYPOPLASIA	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0004482	Relative macrocephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > RELATIVE MACROCEPHALY (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0000193	Bifid uvula			IEA	IEA						OMIM-CS:headandneckmouth > BIFID UVULA (IN 1 PATIENT)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0001417	X-linked inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0002119	Ventriculomegaly			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DILATED CEREBRAL VENTRICLES (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0012385	Camptodactyly			IEA	IEA	rare					OMIM-CS:skeletalfeet > CAMPTODACTYLY (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0001763	Pes planus			IEA	IEA	rare					OMIM-CS:skeletalfeet > FLAT FEET (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0012385	Camptodactyly			IEA	IEA	rare					OMIM-CS:skeletalhands > CAMPTODACTYLY (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0001382	Joint hypermobility			IEA	IEA						OMIM-CS:skeletalhands > JOINT HYPERMOBILITY	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0001371	Flexion contracture			IEA	IEA	rare					OMIM-CS:skeletallimbs > JOINT CONTRACTURE (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0001373	Joint dislocation			IEA	IEA	rare					OMIM-CS:skeletallimbs > JOINT DISLOCATION (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0001382	Joint hypermobility			IEA	IEA						OMIM-CS:skeletallimbs > JOINT HYPERMOBILITY	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0004482	Relative macrocephaly			IEA	IEA	rare					OMIM-CS:skeletalskull > RELATIVE MACROCEPHALY (IN SOME PATIENTS)	OMIM:300989	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300989	MEESTER-LOEYS SYNDROME					HP:0010646	Cervical spine instability			IEA	IEA	rare					OMIM-CS:skeletalspine > CERVICAL SPINE INSTABILITY (RARE)	OMIM:300989	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000028	Cryptorchidism			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > CRYPTORCHIDISM	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION (IUGR)	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0004325	Decreased body weight			IEA	IEA						OMIM-CS:growthweight > LOW WEIGHT	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000377	Abnormality of the pinna			IEA	IEA						OMIM-CS:headandneckears > DYSPLASTIC EARS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000365	Hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:headandneckears > LARGE EARS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000411	Protruding ear			IEA	IEA						OMIM-CS:headandneckears > PROTRUDING EARS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0002553	Highly arched eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > ARCHED EYEBROWS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000527	Long eyelashes			IEA	IEA						OMIM-CS:headandneckeyes > LONG EYELASHES	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000637	Long palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > LONG PALPEBRAL FISSURES	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000276	Long face			IEA	IEA						OMIM-CS:headandneckface > LONG FACE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000343	Long philtrum			IEA	IEA						OMIM-CS:headandneckface > LONG PHILTRUM	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000278	Retrognathia			IEA	IEA						OMIM-CS:headandneckface > RETROGNATHIA	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000248	Brachycephaly			IEA	IEA						OMIM-CS:headandneckhead > BRACHYCEPHALY	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0005469	Flat occiput			IEA	IEA						OMIM-CS:headandneckhead > FLAT OCCIPUT	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY (UP TO -6.5 SD)	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > THIN UPPER LIP	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000470	Short neck			IEA	IEA						OMIM-CS:headandneckneck > SHORT NECK	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000431	Wide nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > BROAD NASAL ROOT	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000426	Prominent nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > PROMINENT NASAL BRIDGE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE PHENOTYPE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001276	Hypertonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPERTONIA	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000729	Autistic behavior			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AUTISM SPECTRUM DISORDER	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENLARGED VENTRICLES	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOPLASTIC CORPUS CALLOSUM	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0002540	Inability to walk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0002510	Spastic tetraplegia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTIC QUADRIPLEGIA	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001371	Flexion contracture			IEA	IEA						OMIM-CS:skeletal > JOINT CONTRACTURES	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > CLUB FEET	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001845	Overlapping toe			IEA	IEA						OMIM-CS:skeletalfeet > OVERRIDING TOES	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0011304	Broad thumb			IEA	IEA						OMIM-CS:skeletalhands > BROAD THUMBS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0001182	Tapered finger			IEA	IEA						OMIM-CS:skeletalhands > TAPERED FINGERS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:617452	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES					HP:0000960	Sacral dimple			IEA	IEA						OMIM-CS:skinnailshairskin > SACRAL DIMPLE	OMIM:617452	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617027	HYPERALDOSTERONISM, FAMILIAL, TYPE IV					HP:0000822	Hypertension			IEA	IEA						OMIM-CS:cardiovascularvascular > HYPERTENSION	OMIM:617027	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617027	HYPERALDOSTERONISM, FAMILIAL, TYPE IV					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617027	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608970	MACULAR DYSTROPHY, PATTERNED, 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:608970	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201450	ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:201450	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:208085	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:208085	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:146390	CHROMOSOME 18P DELETION SYNDROME					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > UPTURNED NOSTRILS	OMIM:146390	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:242700	IMMUNE DEFECT DUE TO ABSENCE OF THYMUS					HP:0005359	Aplasia of the thymus			IEA	IEA						OMIM-CS:immunology > ABSENT THYMUS	OMIM:242700	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0002020	Gastroesophageal reflux			IEA	IEA						OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0000047	Hypospadias			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > HYPOSPADIAS	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0000054	Micropenis			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > MICROPENIS	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0000358	Posteriorly rotated ears			IEA	IEA						OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0000426	Prominent nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > HIGH NASAL BRIDGE	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0001270	Motor delay			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS)	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0000750	Delayed speech and language development			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH DEVELOPMENT (IN SOME PATIENTS)	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0002780	Bronchomalacia			IEA	IEA						OMIM-CS:respiratoryairways > BRONCHOMALACIA	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0002779	Tracheomalacia			IEA	IEA						OMIM-CS:respiratoryairways > TRACHEOMALACIA	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0001601	Laryngomalacia			IEA	IEA						OMIM-CS:respiratorylarynx > LARYNGOMALACIA	OMIM:613803	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613803	MEIER-GORLIN SYNDROME 3					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > CLUB FEET	OMIM:613803	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617014	NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE					HP:0001875	Neutropenia			IEA	IEA						OMIM-CS:immunology > NEUTROPENIA	OMIM:617014	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617014	NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE					HP:0002719	Recurrent infections			IEA	IEA						OMIM-CS:immunology > RECURRENT INFECTIONS	OMIM:617014	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617014	NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617014	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617116	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617116	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617116	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE	OMIM:617116	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0002020	Gastroesophageal reflux			IEA	IEA						OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR FEEDING	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0000817	Poor eye contact			IEA	IEA						OMIM-CS:headandneckeyes > POOR EYE CONTACT	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0000298	Mask-like facies			IEA	IEA						OMIM-CS:headandneckface > EXPRESSIONLESS FACE	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0005484	Postnatal microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, POSTNATAL	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0000737	Irritability			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > IRRITABILITY	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0002305	Athetosis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATHETOID MOVEMENTS	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0001272	Cerebellar atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSTONIA	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0001298	Encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0001344	Absent speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LACK OF SPEECH	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN MOST PATIENTS)	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY	OMIM:617132	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617132	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM	OMIM:617132	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614204	PSORIASIS 14, PUSTULAR					HP:0025252	Geographic tongue			IEA	IEA	rare					OMIM-CS:headandneckmouth > GEOGRAPHIC TONGUE (IN SOME PATIENTS)	OMIM:614204	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614204	PSORIASIS 14, PUSTULAR					HP:0040313	Oligoarthritis			IEA	IEA	rare					OMIM-CS:skeletal > OLIGOARTHRITIS (IN SOME PATIENTS)	OMIM:614204	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614204	PSORIASIS 14, PUSTULAR					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS	OMIM:614204	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC					HP:0001640	Cardiomegaly			IEA	IEA	rare					OMIM-CS:cardiovascularheart > ENLARGED HEART (IN SOME PATIENTS)	OMIM:609638	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC					HP:0001057	Aplasia cutis congenita			IEA	IEA						OMIM-CS:skinnailshairskin > CUTIS APLASIA	OMIM:609638	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616705	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616948	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:616948	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616948	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOW PROGRESSION	OMIM:616948	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616948	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:616948	HPO:skoehler	13.07.2017
...
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:headandneckears > SENSORINEURAL DEAFNESS, VARIABLE (IN 1 FAMILY)	OMIM:613287	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0002020	Gastroesophageal reflux			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX (IN SOME PATIENTS)	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001643	Patent ductus arteriosus			IEA	IEA						OMIM-CS:cardiovascularheart > PATENT DUCTUS ARTERIOSUS	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001655	Patent foramen ovale			IEA	IEA						OMIM-CS:cardiovascularheart > PATENT FORAMEN OVALE	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001667	Right ventricular hypertrophy			IEA	IEA						OMIM-CS:cardiovascularheart > RIGHT VENTRICULAR HYPERTROPHY	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000823	Delayed puberty			IEA	IEA	rare					OMIM-CS:endocrinefeatures > DELAYED PUBERTY (IN SOME PATIENTS)	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000028	Cryptorchidism			IEA	IEA	rare					OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTORCHIDISM (IN SOME PATIENTS)	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001533	Slender build			IEA	IEA						OMIM-CS:growthother > SLENDER BUILD	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000545	Myopia			IEA	IEA						OMIM-CS:headandneckeyes > MYOPIA	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000582	Upslanted palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0002007	Frontal bossing			IEA	IEA						OMIM-CS:headandneckface > FRONTAL BOSSING	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000276	Long face			IEA	IEA						OMIM-CS:headandneckface > LONG FACE	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000272	Malar flattening			IEA	IEA						OMIM-CS:headandneckface > MALAR HYPOPLASIA	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0002705	High, narrow palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH NARROW PALATE	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000194	Open mouth			IEA	IEA						OMIM-CS:headandneckmouth > OPEN MOUTH	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000160	Narrow mouth			IEA	IEA						OMIM-CS:headandneckmouth > SMALL MOUTH	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000154	Wide mouth			IEA	IEA	rare					OMIM-CS:headandneckmouth > WIDE MOUTH (IN SOME PATIENTS)	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0004411	Deviated nasal septum			IEA	IEA	rare					OMIM-CS:headandnecknose > DEVIATED NASAL SEPTUM (IN SOME PATIENTS)	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000448	Prominent nose			IEA	IEA						OMIM-CS:headandnecknose > PROMINENT NOSE	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000678	Dental crowding			IEA	IEA						OMIM-CS:headandneckteeth > CROWDED TEETH	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0000687	Widely spaced teeth			IEA	IEA	rare					OMIM-CS:headandneckteeth > WIDELY SPACED TEETH (IN SOME PATIENTS)	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001319	Neonatal hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, NEONATAL	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001321	Cerebellar hypoplasia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN SOME PATIENTS)	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN 1 PATIENT)	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001822	Hallux valgus			IEA	IEA						OMIM-CS:skeletalfeet > HALLUX VALGUS	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001763	Pes planus			IEA	IEA						OMIM-CS:skeletalfeet > PES PLANUS	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0002684	Thickened calvaria			IEA	IEA						OMIM-CS:skeletalskull > THICKENED CALVARIUM	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0002808	Kyphosis			IEA	IEA						OMIM-CS:skeletalspine > KYPHOSIS	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:300967	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34					HP:0001611	Nasal speech			IEA	IEA						OMIM-CS:voice > NASAL SPEECH	OMIM:300967	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601376	CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY					HP:0001474	Sclerotic scapulae			IEA	IEA						OMIM-CS:chestribssternumclaviclesandscapulae > SCLEROTIC SCAPULAE	OMIM:601376	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601376	CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY					HP:0008873	Disproportionate short-limb short stature			IEA	IEA						OMIM-CS:growthheight > SHORT LIMB DWARFISM	OMIM:601376	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:614067	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0000297	Facial hypotonia			IEA	IEA						OMIM-CS:headandneckface > FACIAL HYPOTONIA	OMIM:614067	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0000322	Short philtrum			IEA	IEA						OMIM-CS:headandneckface > SHORT PHILTRUM	OMIM:614067	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0012471	Thick vermilion border			IEA	IEA						OMIM-CS:headandneckmouth > FULL LIPS	OMIM:614067	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE	OMIM:614067	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0000431	Wide nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > BROAD NASAL BRIDGE	OMIM:614067	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA						OMIM-CS:musclesofttissue > AXIAL HYPOTONIA	OMIM:614067	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0002373	Febrile seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > FEBRILE SEIZURES (IN SOME PATIENTS)	OMIM:614067	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE					HP:0007359	Focal seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > FOCAL SEIZURES (IN SOME PATIENTS)	OMIM:614067	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615440	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615440	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:232240	GLYCOGEN STORAGE DISEASE IC					HP:0001114	Xanthelasma			IEA	IEA						OMIM-CS:skin > XANTHOMA	OMIM:232240	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0000571	Hypometric saccades			IEA	IEA	rare					OMIM-CS:headandneckeyes > HYPOMETRIC SACCADES (IN SOME PATIENTS)	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0000639	Nystagmus			IEA	IEA	rare					OMIM-CS:headandneckeyes > NYSTAGMUS (IN SOME PATIENTS)	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0003581	Adult onset			IEA	IEA						OMIM-CS:miscellaneous > ADULT ONSET (RANGE 42 TO 68 YEARS)	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0003693	Distal amyotrophy			IEA	IEA						OMIM-CS:musclesofttissue > DISTAL AMYOTROPHY	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATAXIA	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0001272	Cerebellar atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0002066	Gait ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GAIT ATAXIA	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0002070	Limb ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LIMB ATAXIA	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0002063	Rigidity			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > RIGIDITY (IN SOME PATIENTS)	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0001337	Tremor			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TREMOR	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0002936	Distal sensory impairment			IEA	IEA	rare					OMIM-CS:neurologicperipheralnervoussystem > DISTAL SENSORY IMPAIRMENT (IN SOME PATIENTS)	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0001265	Hyporeflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA	OMIM:617018	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617018	SPINOCEREBELLAR ATAXIA 43					HP:0001761	Pes cavus			IEA	IEA						OMIM-CS:skeletalfeet > PES CAVUS	OMIM:617018	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:255110	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:255110	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:248000	MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE					HP:0030799	Scaphocephaly			IEA	IEA						OMIM-CS:headandneckhead > SCAPHOCEPHALY	OMIM:248000	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:116300	CATARACT 30, MULTIPLE TYPES					HP:0001115	Posterior polar cataract			IEA	IEA						OMIM-CS:headandneckeyes > POSTERIOR POLAR CATARACT	OMIM:116300	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:116300	CATARACT 30, MULTIPLE TYPES					HP:0010693	Pulverulent cataract			IEA	IEA						OMIM-CS:headandneckeyes > PULVERULENT CATARACT	OMIM:116300	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:116300	CATARACT 30, MULTIPLE TYPES					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > CONGENITAL ONSET	OMIM:116300	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:211530	BROWN-VIALETTO-VAN LAERE SYNDROME 1					HP:0002098	Respiratory distress			IEA	IEA						OMIM-CS:respiratory > SHORTNESS OF BREATH	OMIM:211530	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612379	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:612379	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300355	MENTAL RETARDATION, X-LINKED 73					HP:0000664	Synophrys			IEA	IEA						OMIM-CS:headandneckface > SYNOPHRYS, MILD	OMIM:300355	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300355	MENTAL RETARDATION, X-LINKED 73					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300355	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616914	MARFAN LIPODYSTROPHY SYNDROME					HP:0000822	Hypertension			IEA	IEA	rare					OMIM-CS:cardiovascularvascular > HYPERTENSION (RARE)	OMIM:616914	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616914	MARFAN LIPODYSTROPHY SYNDROME					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:headandneckhead > LARGE HEAD	OMIM:616914	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616914	MARFAN LIPODYSTROPHY SYNDROME					HP:0012759	Neurodevelopmental abnormality			IEA	IEA				NOT	NOT	OMIM-CS:neurologiccentralnervoussystem > NORMAL PSYCHOMOTOR DEVELOPMENT	OMIM:616914	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616914	MARFAN LIPODYSTROPHY SYNDROME					HP:0008081	Pes valgus			IEA	IEA						OMIM-CS:skeletalfeet > PES VALGUS	OMIM:616914	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614751	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB					HP:0003431	Decreased motor nerve conduction velocity			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > DECREASED MOTOR NERVE CONDUCTION VELOCITIES	OMIM:614751	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614817	INTERSTITIAL NEPHRITIS, KARYOMEGALIC					HP:0003138	Increased blood urea nitrogen			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED BUN	OMIM:614817	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614231	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN UTERO	OMIM:614231	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614231	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME					HP:0001319	Neonatal hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, NEONATAL	OMIM:614231	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614231	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME					HP:0002187	Intellectual disability, profound			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, PROFOUND	OMIM:614231	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:182210	SHPRINTZEN OMPHALOCELE SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:182210	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:219150	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:219150	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:194050	WILLIAMS-BEUREN SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:194050	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:101900	ACROKERATOSIS VERRUCIFORMIS					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS	OMIM:101900	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:212112	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM					HP:0000508	Ptosis			IEA	IEA	rare					OMIM-CS:headandneckeyes > PTOSIS, BILATERAL (IN SOME PATIENTS)	OMIM:212112	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614820	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:614820	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614820	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA	OMIM:614820	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614820	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:614820	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614613	ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE					HP:0000303	Mandibular prognathia			IEA	IEA						OMIM-CS:headandneckface > PROMINENT MANDIBLE	OMIM:614613	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615160	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5					HP:0100543	Cognitive impairment			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT, MILD (1 PATIENT)	OMIM:615160	HPO:skoehler	13.07.2017
...
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601696	NOVELTY SEEKING PERSONALITY TRAIT					HP:0100710	Impulsivity			IEA	IEA						OMIM-CS:neuro > IMPULSIVE	OMIM:601696	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0002490	Increased CSF lactate			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED CSF LACTATE	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0002151	Increased serum lactate			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM LACTATE	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0003128	Lactic acidosis			IEA	IEA						OMIM-CS:metabolicfeatures > LACTIC ACIDOSIS	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0001522	Death in infancy			IEA	IEA						OMIM-CS:miscellaneous > DEATH IN EARLY CHILDHOOD	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0003678	Rapidly progressive			IEA	IEA						OMIM-CS:miscellaneous > RAPIDLY PROGRESSIVE	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0012444	Brain atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BRAIN ATROPHY	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0002181	Cerebral edema			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BRAIN EDEMA	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0030915	Cerebellar edema			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR EDEMA	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0001259	Coma			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COMA	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0002352	Leukoencephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LEUKOENCEPHALOPATHY	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0002376	Developmental regression			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR REGRESSION	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0002273	Tetraparesis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TETRAPARESIS	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0001337	Tremor			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TREMOR	OMIM:617186	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY					HP:0200041	Skin erosion			IEA	IEA						OMIM-CS:skinnailshairskin > SKIN EROSION	OMIM:617186	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600118	WARBURG MICRO SYNDROME 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:600118	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615474	PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES					HP:0002305	Athetosis			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > ATHETOSIS, MILD (IN ONE PATIENT)	OMIM:615474	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614345	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24					HP:0001510	Growth delay			IEA	IEA						OMIM-CS:growthother > GROWTH RETARDATION	OMIM:614345	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614345	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, MILD	OMIM:614345	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614345	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:614345	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614345	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH	OMIM:614345	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614345	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24					HP:0002342	Intellectual disability, moderate			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MODERATE	OMIM:614345	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614345	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24					HP:0001270	Motor delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY	OMIM:614345	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:218450	CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS					HP:0000211	Trismus			IEA	IEA						OMIM-CS:heent > LIMITED MOUTH OPENING	OMIM:218450	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617251	UNCOMBABLE HAIR SYNDROME 2					HP:0001118	Juvenile cataract			IEA	IEA						OMIM-CS:headandneckeyes > JUVENILE CATARACT, BILATERAL	OMIM:617251	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617251	UNCOMBABLE HAIR SYNDROME 2					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617251	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617251	UNCOMBABLE HAIR SYNDROME 2					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:617251	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617251	UNCOMBABLE HAIR SYNDROME 2					HP:0002235	Pili canaliculi			IEA	IEA						OMIM-CS:skinnailshairhair > PILI CANALICULI (SEEN ON SCANNING EM OF HAIR SHAFT CROSS-SECTION)	OMIM:617251	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617251	UNCOMBABLE HAIR SYNDROME 2					HP:0030056	Uncombable hair			IEA	IEA						OMIM-CS:skinnailshairhair > UNCOMBABLE HAIR	OMIM:617251	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614378	CRANIOECTODERMAL DYSPLASIA 4					HP:0008081	Pes valgus			IEA	IEA						OMIM-CS:skeletalfeet > PES VALGUS	OMIM:614378	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617441	THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS					HP:0001744	Splenomegaly			IEA	IEA	rare					OMIM-CS:abdomenspleen > SPLENOMEGALY (IN SOME PATIENTS)	OMIM:617441	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617441	THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS					HP:0001903	Anemia			IEA	IEA						OMIM-CS:hematology > ANEMIA	OMIM:617441	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617441	THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS					HP:0004823	Anisopoikilocytosis			IEA	IEA						OMIM-CS:hematology > ANISOPOIKILOCYTOSIS	OMIM:617441	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617441	THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS					HP:0001873	Thrombocytopenia			IEA	IEA						OMIM-CS:hematology > THROMBOCYTOPENIA	OMIM:617441	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617441	THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617441	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611543	CAVITARY OPTIC DISC ANOMALIES					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:611543	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0001744	Splenomegaly			IEA	IEA						OMIM-CS:abdomenspleen > SPLENOMEGALY	OMIM:602390	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0011675	Arrhythmia			IEA	IEA						OMIM-CS:cardiovascularheart > ARRHYTHMIA	OMIM:602390	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0001644	Dilated cardiomyopathy			IEA	IEA						OMIM-CS:cardiovascularheart > CARDIOMYOPATHY, DILATED	OMIM:602390	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0001635	Congestive heart failure			IEA	IEA						OMIM-CS:cardiovascularheart > HEART FAILURE	OMIM:602390	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0000141	Amenorrhea			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliafemale > AMENORRHEA	OMIM:602390	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0000027	Azoospermia			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > AZOOSPERMIA	OMIM:602390	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0000789	Infertility			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > INFERTILITY	OMIM:602390	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0001254	Lethargy			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > LETHARGY	OMIM:602390	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602390	HEMOCHROMATOSIS, TYPE 2A					HP:0001369	Arthritis			IEA	IEA						OMIM-CS:skeletal > ARTHRITIS	OMIM:602390	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614883	PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)					HP:0005562	Multiple renal cysts			IEA	IEA						OMIM-CS:genitourinarykidneys > MULTIPLE RENAL CYSTS	OMIM:614883	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614883	PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)					HP:0000260	Wide anterior fontanel			IEA	IEA						OMIM-CS:headandneckhead > LARGE ANTERIOR FONTANEL	OMIM:614883	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614883	PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:614883	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614883	PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)					HP:0006829	Severe muscular hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE	OMIM:614883	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613670	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:613670	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613670	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:613670	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613670	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:613670	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613670	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES					HP:0000278	Retrognathia			IEA	IEA						OMIM-CS:headandneckface > RETROGNATHIA, MILD	OMIM:613670	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613670	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:613670	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613670	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES					HP:0012448	Delayed myelination			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (IN SOME PATIENTS)	OMIM:613670	HPO:skoehler	13.07.2017
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0002611	Cholestatic liver disease			IEA	IEA						OMIM-CS:abdomenliver > CHOLESTATIC LIVER DISEASE	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0001642	Pulmonic stenosis			IEA	IEA						OMIM-CS:cardiovascularheart > PULMONIC STENOSIS	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0001636	Tetralogy of Fallot			IEA	IEA						OMIM-CS:cardiovascularheart > TETROLOGY OF FALLOT	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0000822	Hypertension			IEA	IEA						OMIM-CS:cardiovascularvascular > HYPERTENSION	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0000107	Renal cyst			IEA	IEA						OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0000790	Hematuria			IEA	IEA						OMIM-CS:genitourinarykidneys > HEMATURIA	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0000093	Proteinuria			IEA	IEA						OMIM-CS:genitourinarykidneys > PROTEINURIA	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0000089	Renal hypoplasia			IEA	IEA						OMIM-CS:genitourinarykidneys > SMALL KIDNEYS	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0000627	Posterior embryotoxon			IEA	IEA						OMIM-CS:headandneckeyes > POSTERIOR EMBRYOTOXON	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0000307	Pointed chin			IEA	IEA						OMIM-CS:headandneckface > POINTED CHIN	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0003189	Long nose			IEA	IEA						OMIM-CS:headandnecknose > LONG NOSE	OMIM:610205	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610205	ALAGILLE SYNDROME 2					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE PHENOTYPE	OMIM:610205	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259690	OSTEOPENIA AND SPARSE HAIR					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:muscle > HYPOTONIA	OMIM:259690	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:308230	IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1					HP:0030812	Enlarged tonsils			IEA	IEA						OMIM-CS:headandneckmouth > TONSILLAR HYPERTROPHY	OMIM:308230	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000490	Deeply set eye			IEA	IEA						OMIM-CS:headandneckeyes > DEEP-SET EYES	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000540	Hypermetropia			IEA	IEA						OMIM-CS:headandneckeyes > HYPERMETROPIA	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000581	Blepharophimosis			IEA	IEA						OMIM-CS:headandneckeyes > NARROW PALPEBRAL FISSURES	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000337	Broad forehead			IEA	IEA						OMIM-CS:headandneckface > BROAD FOREHEAD	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000154	Wide mouth			IEA	IEA						OMIM-CS:headandneckmouth > BROAD MOUTH	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > THIN UPPER LIP	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000431	Wide nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > BROAD NASAL BRIDGE	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0000752	Hyperactivity			IEA	IEA	rare					OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY (IN SOME PATIENTS)	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0100033	Tics			IEA	IEA	rare					OMIM-CS:neurologicbehavioralpsychiatricmanifestations > TICS (IN SOME PATIENTS)	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0002465	Poor speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0010511	Long toe			IEA	IEA						OMIM-CS:skeletalfeet > LONG TOES	OMIM:615074	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18					HP:0100807	Long fingers			IEA	IEA						OMIM-CS:skeletalhands > LONG FINGERS	OMIM:615074	HPO:skoehler	13.07.2017
.......filter this Mon May 29 00:00:00 CEST 2017
OMIM:615574	#615574 ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD;;ASNS DEFICIENCY					HP:0012736	Profound global developmental delay			TAS	TAS							OMIM:615574	HPO:probinson	2017-05-29
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615574	ASPARAGINE SYNTHETASE DEFICIENCY					HP:0001263	Global developmental delay			IEA	IEA						MODIFIER:PROFOUND;OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND	OMIM:615574	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000582	Upslanted palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES (FAMILY C)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, PROGRESSIVE (UP TO -6.2 SD)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA (FAMILIES A AND B)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0002365	Hypoplasia of the brainstem			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BRAINSTEM HYPOPLASIA (FAMILIES A AND B)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001321	Cerebellar hypoplasia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (FAMILIES A AND B)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0002540	Inability to walk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > NON-AMBULATORY (FAMILIES A AND B)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES (FAMILIES A AND B)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0002064	Spastic gait			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTIC GAIT (FAMILY C)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (FAMILIES A AND B)	OMIM:616486	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616486	MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > TALIPES EQUINOVARUS (FAMILIES A AND B)	OMIM:616486	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING PROBLEMS	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0030680	Abnormality of cardiovascular system morphology			IEA	IEA						OMIM-CS:cardiovascularheart > CONGENITAL HEART DEFECTS	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0000365	Hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING IMPAIRMENT	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0000280	Coarse facial features			IEA	IEA						OMIM-CS:headandneckface > COARSE FACIES	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0000154	Wide mouth			IEA	IEA						OMIM-CS:headandneckmouth > LARGE MOUTH	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0000158	Macroglossia			IEA	IEA						OMIM-CS:headandneckmouth > MACROGLOSSIA	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > ANTEVERTED NOSTRILS	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0000445	Wide nose			IEA	IEA						OMIM-CS:headandnecknose > BROAD NOSE	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > FLAT NASAL BRIDGE	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0009928	Thick nasal alae			IEA	IEA						OMIM-CS:headandnecknose > THICK NASAL ALAE	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0001273	Abnormality of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ABNORMAL CORPUS CALLOSUM	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0002750	Delayed skeletal maturation			IEA	IEA						OMIM-CS:skeletal > DELAYED BONE AGE	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand			IEA	IEA						OMIM-CS:skeletalfeet > HYPOPLASTIC TO ABSENT TERMINAL PHALANGES (ESPECIALLY FIFTH TOE)	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand			IEA	IEA						OMIM-CS:skeletalhands > HYPOPLASTIC TO ABSENT TERMINAL PHALANGES (ESPECIALLY FIFTH FINGER)	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:614609	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614609	COFFIN-SIRIS SYNDROME 4					HP:0000998	Hypertrichosis			IEA	IEA						OMIM-CS:skinnailshairhair > HYPERTRICHOSIS	OMIM:614609	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613720	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:613720	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:250620	3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:250620	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0012622	Chronic kidney disease			IEA	IEA						OMIM-CS:genitourinarykidneys > CHRONIC KIDNEY DISEASE	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0000107	Renal cyst			IEA	IEA						OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS (FAMILY B)	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0000097	Focal segmental glomerulosclerosis			IEA	IEA						OMIM-CS:genitourinarykidneys > FOCAL GLOMERULOSCLEROSIS	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0000112	Nephropathy			IEA	IEA						OMIM-CS:genitourinarykidneys > NEPHROPATHY	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE (FAMILY A)	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION (FAMILY A)	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0001903	Anemia	HP:0003577	Congenital onset	IEA	IEA						OMIM-CS:hematology > ANEMIA, CONGENITAL	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0001875	Neutropenia			IEA	IEA						OMIM-CS:immunology > NEUTROPENIA (FAMILY B)	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0002149	Hyperuricemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > HYPERURICEMIA, MILD	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT, MILD (FAMILY A)	OMIM:617056	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617056	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4					HP:0001997	Gout			IEA	IEA						OMIM-CS:skeletallimbs > GOUT (FAMILY B)	OMIM:617056	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615612	DEVELOPMENTAL DYSPLASIA OF THE HIP 2					HP:0030838	Hip pain			IEA	IEA						OMIM-CS:skeletalpelvis > HIP PAIN	OMIM:615612	HPO:skoehler	13.07.2017
.......
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0000823	Delayed puberty			IEA	IEA						OMIM-CS:endocrinefeatures > DELAYED PUBERTY	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0001518	Small for gestational age			IEA	IEA						OMIM-CS:growthheight > LOW BIRTH WEIGHT	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthweight > SHORT STATURE	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, VARIABLE (RANGE -2 TO -7 SD)	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0012448	Delayed myelination			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (1 PATIENT)	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0001256	Intellectual disability, mild			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD	OMIM:617432	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617432	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60					HP:0002750	Delayed skeletal maturation			IEA	IEA						OMIM-CS:skeletal > DELAYED BONE AGE	OMIM:617432	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:164210	HEMIFACIAL MICROSOMIA					HP:0011332	Hemifacial hypoplasia			IEA	IEA						OMIM-CS:preferredtitle > HEMIFACIAL MICROSOMIA	OMIM:164210	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312700	RETINOSCHISIS 1, X-LINKED, JUVENILE					HP:0007667	Cystic retinal degeneration			IEA	IEA						OMIM-CS:headandneckeyes > CYSTIC RETINAL DEGENERATION	OMIM:312700	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312700	RETINOSCHISIS 1, X-LINKED, JUVENILE					HP:0001105	Retinal atrophy			IEA	IEA						OMIM-CS:headandneckeyes > RETINAL ATROPHY	OMIM:312700	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312700	RETINOSCHISIS 1, X-LINKED, JUVENILE					HP:0000546	Retinal degeneration			IEA	IEA						OMIM-CS:headandneckeyes > RETINAL DEGENERATION	OMIM:312700	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601214	NAXOS DISEASE					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS	OMIM:601214	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:266100	EPILEPSY, PYRIDOXINE-DEPENDENT					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:266100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:266100	EPILEPSY, PYRIDOXINE-DEPENDENT					HP:0025116	Fetal distress			IEA	IEA						OMIM-CS:prenatalmanifestations > FETAL DISTRESS	OMIM:266100	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615883	MYOPATHY, TUBULAR AGGREGATE, 2					HP:0003701	Proximal muscle weakness			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE WEAKNESS, PROXIMAL	OMIM:615883	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301940	BRACHYDACTYLY, MONONEN TYPE					HP:0005802	Coalescence of tarsal bones			IEA	IEA						OMIM-CS:skeletalfeet > COALESCENCE OF TARSAL BONES	OMIM:301940	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614344	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:614344	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614344	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE	OMIM:614344	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614344	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23					HP:0001270	Motor delay			IEA	IEA						MODIFIER:MODERATE;OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY, MODERATE	OMIM:614344	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:137400	GEOGRAPHIC TONGUE AND FISSURED TONGUE					HP:0025252	Geographic tongue			IEA	IEA						OMIM-CS:mouth > GEOGRAPHIC TONGUE	OMIM:137400	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612350	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE					HP:0001015	Prominent superficial veins			IEA	IEA						OMIM-CS:skinnailshairskin > PROMINENT VEINS	OMIM:612350	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616407	BROWN SYNDROME					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616407	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:277900	WILSON DISEASE					HP:0001402	Hepatocellular carcinoma			IEA	IEA	rare					OMIM-CS:abdomenliver > HEPATOCELLULAR CARCINOMA (IN SOME PATIENTS)	OMIM:277900	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616568	GLIOMA SUSCEPTIBILITY 9					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616568	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616568	GLIOMA SUSCEPTIBILITY 9					HP:0003581	Adult onset			IEA	IEA						OMIM-CS:miscellaneous > ADULT ONSET	OMIM:616568	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616568	GLIOMA SUSCEPTIBILITY 9					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE	OMIM:616568	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE EXPRESSIVITY	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0002345	Action tremor			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ACTION TREMOR (1 PATIENT FROM FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0011812	Agraphesthesia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > AGRAPHESTHESIA (FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0010527	Astereognosia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ASTEREOGNOSIS (FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0002067	Bradykinesia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BRADYKINESIA (FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0001272	Cerebellar atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY (FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (1 PATIENT FROM FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0003487	Babinski sign			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EXTENSOR PLANTAR RESPONSES (1 PATIENT FROM FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0001288	Gait disturbance			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GAIT DIFFICULTIES (FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0000338	Hypomimic face			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOMIMIA (FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0001300	Parkinsonism			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PARKINSONISM (FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (1 PATIENT FROM FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE					HP:0001265	Hyporeflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA (FAMILY A)	OMIM:300423	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613477	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5					HP:0007366	Atrophy/Degeneration affecting the brainstem			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BRAINSTEM ATROPHY	OMIM:613477	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613477	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:613477	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:133190	SPINOCEREBELLAR ATAXIA 34					HP:0001257	Spasticity			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SPASTICITY, MILD (IN SOME PATIENTS)	OMIM:133190	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES, SEVERE	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0000518	Cataract			IEA	IEA						OMIM-CS:headandneckeyes > CATARACTS	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0002421	Poor head control			IEA	IEA						OMIM-CS:headandneckhead > POOR HEAD CONTROL	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0000455	Broad nasal tip			IEA	IEA						OMIM-CS:headandnecknose > BROAD NASAL TIP	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0000737	Irritability			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > IRRITABILITY	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0000733	Stereotypy			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > REPETITIVE MOVEMENTS	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0002355	Difficulty walking			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DIFFICULTY WALKING	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY, SEVERE TO PROFOUND	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE TO PROFOUND	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0001344	Absent speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LACK OF SPEECH	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (IN 1 OLDER PATIENT)	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0001371	Flexion contracture			IEA	IEA						OMIM-CS:skeletal > CONTRACTURES (IN 1 OLDER PATIENT)	OMIM:617393	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617393	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS (IN 1 OLDER PATIENT)	OMIM:617393	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611095	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9					HP:0001510	Growth delay			IEA	IEA						OMIM-CS:growthother > GROWTH RETARDATION	OMIM:611095	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611095	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE	OMIM:611095	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611095	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9					HP:0001270	Motor delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY, SEVERE	OMIM:611095	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:270800	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > SENSORINEURAL HEARING LOSS (IN SOME PATIENTS)	OMIM:270800	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:270800	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE					HP:0000518	Cataract			IEA	IEA	rare					OMIM-CS:headandneckeyes > CATARACT (IN SOME PATIENTS)	OMIM:270800	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:270800	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE					HP:0000639	Nystagmus			IEA	IEA	rare					OMIM-CS:headandneckeyes > NYSTAGMUS (IN SOME PATIENTS)	OMIM:270800	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:270800	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE					HP:0100543	Cognitive impairment			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT (IN SOME PATIENTS)	OMIM:270800	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614498	RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL					HP:0031165	Multifocal seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MULTIFOCAL SEIZURES	OMIM:614498	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616482	ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS					HP:0000365	Hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS, MILD-TO-MODERATE	OMIM:616482	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613706	NOONAN SYNDROME 7					HP:0002033	Poor suck			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR SUCK	OMIM:613706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613706	NOONAN SYNDROME 7					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR SWALLOWING	OMIM:613706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613706	NOONAN SYNDROME 7					HP:0000341	Narrow forehead			IEA	IEA						OMIM-CS:headandneckhead > BITEMPORAL NARROWING	OMIM:613706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613706	NOONAN SYNDROME 7					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > FLAT NASAL BRIDGE	OMIM:613706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613706	NOONAN SYNDROME 7					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE DEFICITS, MILD TO MODERATE	OMIM:613706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613706	NOONAN SYNDROME 7					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:613706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613706	NOONAN SYNDROME 7					HP:0002650	Scoliosis			IEA	IEA	rare					OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS)	OMIM:613706	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:280000	COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:280000	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603909	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA					HP:0025300	Malar rash			IEA	IEA						OMIM-CS:skinnailshairskin > MALAR RASH	OMIM:603909	HPO:skoehler	2017-07-13
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:100650	ALDEHYDE DEHYDROGENASE 2 FAMILY					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:100650	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610163	IMMUNODEFICIENCY 25					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:610163	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611228	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J					HP:0003431	Decreased motor nerve conduction velocity			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > DECREASED MOTOR NERVE CONDUCTION VELOCITIES	OMIM:611228	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1					HP:0000687	Widely spaced teeth			IEA	IEA						OMIM-CS:headandneckteeth > WIDELY-SPACED TEETH	OMIM:613573	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:613573	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1					HP:0002046	Heat intolerance			IEA	IEA	rare					OMIM-CS:miscellaneous > HEAT INTOLERANCE (IN SOME PATIENTS)	OMIM:613573	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1					HP:0002550	Absent facial hair			IEA	IEA						OMIM-CS:skinnailshairhair > ABSENT FACIAL HAIR (IN SOME MALES)	OMIM:613573	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1					HP:0002208	Coarse hair			IEA	IEA						OMIM-CS:skinnailshairhair > COARSE HAIR	OMIM:613573	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1					HP:0001596	Alopecia			IEA	IEA						MODIFIER:PROGRESSIVE;OMIM-CS:skinnailshairhair > HAIR LOSS, PROGRESSIVE	OMIM:613573	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1					HP:0002232	Patchy alopecia			IEA	IEA						OMIM-CS:skinnailshairhair > PATCHY ALOPECIA	OMIM:613573	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1					HP:0001800	Hypoplastic toenails			IEA	IEA						OMIM-CS:skinnailshairnails > HYPOPLASTIC TOENAILS	OMIM:613573	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:269250	SCHNECKENBECKEN DYSPLASIA					HP:0031026	Snail-like ilia			IEA	IEA						OMIM-CS:preferredtitle > SCHNECKENBECKEN DYSPLASIA	OMIM:269250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:269250	SCHNECKENBECKEN DYSPLASIA					HP:0031026	Snail-like ilia			IEA	IEA						OMIM-CS:skeletalpelvis > SNAIL-SHAPED ILIA	OMIM:269250	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600679	DERMOID CYSTS, FAMILIAL FRONTONASAL					HP:0000738	Hallucinations			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HALLUCINATIONS	OMIM:600679	HPO:skoehler	13.07.2017
.
............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0000252	Microcephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > SMALL HEAD CIRCUMFERENCE (IN SOME PATIENTS)	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0000729	Autistic behavior			IEA	IEA	rare					OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AUTISM SPECTRUM DISORDER (IN SOME PATIENTS)	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0002373	Febrile seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > FEBRILE SEIZURES	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0007359	Focal seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > FOCAL SEIZURES	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0002197	Generalized seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GENERALIZED SEIZURES	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0001347	Hyperreflexia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA (IN SOME PATIENTS)	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0002540	Inability to walk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0002123	Generalized myoclonic seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MYOCLONIC SEIZURES	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0002126	Polymicrogyria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > POLYMICROGYRIA, MILD (2 PATIENTS)	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS)	OMIM:617188	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617188	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TRUNCAL HYPOTONIA	OMIM:617188	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:308300	INCONTINENTIA PIGMENTI					HP:0007750	Hypoplasia of the fovea			IEA	IEA						OMIM-CS:headandneckeyes > FOVEAL HYPOPLASIA	OMIM:308300	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0012368	Flat face			IEA	IEA						OMIM-CS:headandneckface > FLAT FACIAL PROFILE	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0000180	Lobulated tongue			IEA	IEA						OMIM-CS:headandneckmouth > LOBULATED TONGUE	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > UPTURNED NARES	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0000431	Wide nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > WIDE NASAL BRIDGE	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0001274	Agenesis of corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > AGENESIS OF THE CORPUS CALLOSUM	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DILATED VENTRICLES	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0002419	Molar tooth sign on MRI			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MOLAR TOOTH SIGN	OMIM:617127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617127	OROFACIODIGITAL SYNDROME XV					HP:0010055	Broad hallux			IEA	IEA						OMIM-CS:skeletalfeet > BROAD HALLUX	OMIM:617127	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201475	ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:201475	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616239	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA (PATIENT A)	OMIM:616239	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:208870	ATAXIA-MICROCEPHALY-CATARACT SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:208870	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:250100	METACHROMATIC LEUKODYSTROPHY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:250100	HPO:skoehler	13.07.2017
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS, SENSORINEURAL	OMIM:617236	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS					HP:0000608	Macular degeneration			IEA	IEA						OMIM-CS:headandneckeyes > MACULAR DEGENERATION	OMIM:617236	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617236	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPHOBIA	OMIM:617236	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617236	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:257200	NIEMANN-PICK DISEASE, TYPE A					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:257200	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR FEEDING	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0001511	Intrauterine growth retardation			IEA	IEA	rare					OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION (IN SOME PATIENTS)	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000358	Posteriorly rotated ears			IEA	IEA						OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000494	Downslanted palpebral fissures			IEA	IEA	rare					OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES (IN SOME PATIENTS)	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000286	Epicanthus			IEA	IEA						OMIM-CS:headandneckeyes > EPICANTHAL FOLDS	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000508	Ptosis			IEA	IEA						OMIM-CS:headandneckeyes > PTOSIS	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0002007	Frontal bossing			IEA	IEA						OMIM-CS:headandneckface > FRONTAL BOSSING	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000348	High forehead			IEA	IEA						OMIM-CS:headandneckface > HIGH FOREHEAD	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000322	Short philtrum			IEA	IEA						OMIM-CS:headandneckface > SHORT PHILTRUM	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000325	Triangular face			IEA	IEA						OMIM-CS:headandneckface > TRIANGULAR FACE	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000248	Brachycephaly			IEA	IEA						OMIM-CS:headandneckhead > BRACHYCEPHALY	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000194	Open mouth			IEA	IEA						OMIM-CS:headandneckmouth > OPEN MOUTH	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > THIN UPPER LIP	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000470	Short neck			IEA	IEA						OMIM-CS:headandneckneck > SHORT NECK	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > ANTEVERTED NARES	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000414	Bulbous nose			IEA	IEA						OMIM-CS:headandnecknose > BULBOUS NOSE	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0000426	Prominent nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > PROMINENT NASAL BRIDGE	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE, PERSISTENT	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0002059	Cerebral atrophy			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN SOME PATIENTS)	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0100660	Dyskinesia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DYSKINESIAS (IN SOME PATIENTS)	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0002187	Intellectual disability, profound			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, PROFOUND	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES, VARIABLE TYPES (IN SOME PATIENTS)	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0001182	Tapered finger			IEA	IEA						OMIM-CS:skeletalhands > TAPERING FINGERS	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0003273	Hip contracture			IEA	IEA	rare					OMIM-CS:skeletalpelvis > HIP CONTRACTURES (IN SOME PATIENTS)	OMIM:616801	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616801	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2					HP:0002650	Scoliosis			IEA	IEA	rare					OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS)	OMIM:616801	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607625	NIEMANN-PICK DISEASE, TYPE C2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:607625	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:616084	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608799	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:608799	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608799	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:608799	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259100	HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1					HP:0010783	Erythema			IEA	IEA						OMIM-CS:skinnailshairskin > FLUSHING	OMIM:259100	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604117	VOHWINKEL SYNDROME, VARIANT FORM					HP:0025114	Hypergranulosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > HYPERGRANULOSIS	OMIM:604117	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300210	MENTAL RETARDATION, X-LINKED 58					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300210	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614707	BROWN-VIALETTO-VAN LAERE SYNDROME 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614707	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614857	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:245348	PYRUVATE DEHYDROGENASE E2 DEFICIENCY					HP:0002928	Decreased activity of the pyruvate dehydrogenase complex			IEA	IEA						OMIM-CS:laboratoryabnormalities > DECREASED ACTIVITY OF THE PYRUVATE DEHYDROGENASE COMPLEX (PDH)	OMIM:245348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:245348	PYRUVATE DEHYDROGENASE E2 DEFICIENCY					HP:0040284	Very rare			IEA	IEA						OMIM-CS:miscellaneous > VERY RARE	OMIM:245348	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:256550	NEURAMINIDASE DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (TYPE I AND TYPE II, INFANTILE)	OMIM:256550	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616834	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS					HP:0000823	Delayed puberty			IEA	IEA						OMIM-CS:endocrinefeatures > DELAYED PUBERTY	OMIM:616834	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616834	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS					HP:0000823	Delayed puberty			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliafemale > DELAYED PUBERTY	OMIM:616834	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616834	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:616834	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616834	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS					HP:0000498	Blepharitis			IEA	IEA						OMIM-CS:headandneckeyes > BLEPHARITIS	OMIM:616834	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616834	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS					HP:0001256	Intellectual disability, mild			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD	OMIM:616834	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616834	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS					HP:0002829	Arthralgia			IEA	IEA						OMIM-CS:skeletallimbs > ARTHRALGIAS	OMIM:616834	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613243	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13					HP:0005110	Atrial fibrillation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > ATRIAL FIBRILLATION (IN SOME PATIENTS)	OMIM:613243	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613243	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13					HP:0100749	Chest pain			IEA	IEA						OMIM-CS:cardiovascularheart > CHEST PAIN	OMIM:613243	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613243	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13					HP:0011711	Left anterior fascicular block			IEA	IEA	rare					OMIM-CS:cardiovascularheart > LEFT ANTERIOR HEMIBLOCK (IN SOME PATIENTS)	OMIM:613243	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613243	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13					HP:0011712	Right bundle branch block			IEA	IEA	rare					OMIM-CS:cardiovascularheart > RIGHT BUNDLE BRANCH BLOCK (IN SOME PATIENTS)	OMIM:613243	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613243	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13					HP:0001663	Ventricular fibrillation			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR FIBRILLATION (MAY BE ASSOCIATED WITH PHYSICAL OR EMOTIONAL STRESS)	OMIM:613243	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613243	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:613243	HPO:skoehler	13.07.2017
.......
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1					HP:0001890	Autoimmune hemolytic anemia			IEA	IEA						OMIM-CS:hematology > AUTOIMMUNE HEMOLYTIC ANEMIA	OMIM:615952	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1					HP:0001973	Autoimmune thrombocytopenia			IEA	IEA						OMIM-CS:hematology > AUTOIMMUNE THROMBOCYTOPENIA	OMIM:615952	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1					HP:0004313	Decreased antibody level in blood			IEA	IEA						OMIM-CS:immunology > HYPOGAMMAGLOBULINEMIA	OMIM:615952	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312612	RETINITIS PIGMENTOSA 6					HP:0001417	X-linked inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED	OMIM:312612	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0000020	Urinary incontinence			IEA	IEA	rare					OMIM-CS:genitourinarybladder > URINARY INCONTINENCE (IN SOME PATIENTS)	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0000365	Hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > HEARING LOSS, MILD (IN SOME PATIENTS)	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0000657	Oculomotor apraxia			IEA	IEA						OMIM-CS:headandneckeyes > OCULOMOTOR APRAXIA	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0000511	Vertical supranuclear gaze palsy			IEA	IEA						OMIM-CS:headandneckeyes > VERTICAL GAZE PALSY	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001272	Cerebellar atrophy			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY (IN SOME PATIENTS)	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001317	Abnormality of the cerebellum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR SIGNS	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001268	Mental deterioration			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE DECLINE	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0002075	Dysdiadochokinesis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSDIADOCHOKINESIS	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001310	Dysmetria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSMETRIA	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSTONIA	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001288	Gait disturbance			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GAIT ABNORMALITIES	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0002066	Gait ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GAIT ATAXIA	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001347	Hyperreflexia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0002070	Limb ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LIMB ATAXIA	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0007256	Abnormal pyramidal signs			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PYRAMIDAL SIGNS	OMIM:617145	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617145	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET					HP:0001337	Tremor			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TREMOR	OMIM:617145	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617108	SESSILE SERRATED POLYPOSIS CANCER SYNDROME					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617108	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611929	CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:611929	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201300	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOTONIA	OMIM:201300	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607812	CRANIOLENTICULOSUTURAL DYSPLASIA					HP:0000648	Optic atrophy			IEA	IEA	rare					OMIM-CS:headandneckeyes > OPTIC ATROPHY, BILATERAL (IN SOME PATIENTS)	OMIM:607812	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616833	PAGET DISEASE OF BONE 6					HP:0001677	Coronary artery disease			IEA	IEA	rare					OMIM-CS:cardiovascularheart > CORONARY ARTERY DISEASE (IN SOME PATIENTS)	OMIM:616833	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616833	PAGET DISEASE OF BONE 6					HP:0001712	Left ventricular hypertrophy			IEA	IEA	rare					OMIM-CS:cardiovascularheart > LEFT VENTRICULAR HYPERTROPHY (IN SOME PATIENTS)	OMIM:616833	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616833	PAGET DISEASE OF BONE 6					HP:0000121	Nephrocalcinosis			IEA	IEA	rare					OMIM-CS:genitourinarykidneys > NEPHROCALCINOSIS (IN SOME PATIENTS)	OMIM:616833	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616833	PAGET DISEASE OF BONE 6					HP:0003155	Elevated alkaline phosphatase			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED ALKALINE PHOSPHATASE	OMIM:616833	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616833	PAGET DISEASE OF BONE 6					HP:0003581	Adult onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN ADULTHOOD	OMIM:616833	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616833	PAGET DISEASE OF BONE 6					HP:0002653	Bone pain			IEA	IEA						OMIM-CS:skeletal > BONE PAIN	OMIM:616833	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0002020	Gastroesophageal reflux			IEA	IEA						OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0001680	Coarctation of aorta			IEA	IEA						OMIM-CS:cardiovascularvascular > COARCTATION OF THE AORTA (IN 1 PATIENT)	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0002553	Highly arched eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > ARCHED EYEBROWS	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0000490	Deeply set eye			IEA	IEA						OMIM-CS:headandneckeyes > DEEP-SET EYES	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0045075	Sparse eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > SPARSE EYEBROWS	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0000582	Upslanted palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0000341	Narrow forehead			IEA	IEA						OMIM-CS:headandneckface > BITEMPORAL NARROWING	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0009890	High anterior hairline			IEA	IEA						OMIM-CS:headandneckface > HIGH ANTERIOR HAIRLINE	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0002003	Large forehead			IEA	IEA						OMIM-CS:headandneckface > LARGE FOREHEAD	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0010804	Tented upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > TENTED UPPER LIP	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0000729	Autistic behavior			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AUTISM SPECTRUM DISORDER (IN 1 PATIENT)	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD TO SEVERE	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR RETARDATION	OMIM:600987	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600987	CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION					HP:0011304	Broad thumb			IEA	IEA						OMIM-CS:skeletalhands > BROAD THUMBS	OMIM:600987	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614807	MYOPATHY, CENTRONUCLEAR, 4					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614807	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615048	SPINAL MUSCULAR ATROPHY, JOKELA TYPE					HP:0002936	Distal sensory impairment			IEA	IEA	rare					OMIM-CS:neurologicperipheralnervoussystem > DISTAL SENSORY IMPAIRMENT, MILD (IN SOME PATIENTS)	OMIM:615048	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613464	RETINITIS PIGMENTOSA 51					HP:0011003	Severe Myopia			IEA	IEA						OMIM-CS:headandneckeyes > HIGH MYOPIA	OMIM:613464	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613464	RETINITIS PIGMENTOSA 51					HP:0000608	Macular degeneration			IEA	IEA						OMIM-CS:headandneckeyes > MACULAR DEGENERATION	OMIM:613464	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613464	RETINITIS PIGMENTOSA 51					HP:0000662	Nyctalopia			IEA	IEA						OMIM-CS:headandneckeyes > NIGHT BLINDNESS	OMIM:613464	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613464	RETINITIS PIGMENTOSA 51					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPHOBIA	OMIM:613464	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613464	RETINITIS PIGMENTOSA 51					HP:0007663	Reduced visual acuity			IEA	IEA						OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY	OMIM:613464	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:137200	NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE					HP:0002936	Distal sensory impairment			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > DISTAL SENSORY IMPAIRMENT, MILD (VARIABLE)	OMIM:137200	HPO:skoehler	13.07.2017
............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0001397	Hepatic steatosis			IEA	IEA						OMIM-CS:abdomenliver > STEATOSIS	OMIM:614922	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0000107	Renal cyst			IEA	IEA						OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS	OMIM:614922	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0000089	Renal hypoplasia			IEA	IEA						OMIM-CS:genitourinarykidneys > HYPOPLASTIC KIDNEYS	OMIM:614922	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0000083	Renal insufficiency			IEA	IEA						OMIM-CS:genitourinarykidneys > RENAL FAILURE	OMIM:614922	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:614922	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614922	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION	OMIM:614922	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:614922	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614922	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES	OMIM:614922	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611040	MICROPHTHALMIA, ISOLATED 5					HP:0030823	Scleral thickening			IEA	IEA						OMIM-CS:headandneckeyes > SCLERAL THICKENING	OMIM:611040	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:202370	PEROXISOME BIOGENESIS DISORDER 2B					HP:0002705	High, narrow palate			IEA	IEA						OMIM-CS:mouth > PALATE HIGH-ARCHED	OMIM:202370	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602579	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:602579	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:207950	CHIARI MALFORMATION TYPE II					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:207950	HPO:skoehler	13.07.2017
..filter this Sun Aug 27 00:00:00 CEST 2017
OMIM:200990	ACROCALLOSAL SYNDROME SCHINZEL ACROCALLOSAL SYNDROME					HP:0001641	Abnormality of the pulmonary valve			TAS	TAS							OMIM:200990	HPO:probinson	2017-08-27
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300881	BARATELA-SCOTT SYNDROME					HP:0000405	Conductive hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > CONDUCTIVE HEARING LOSS, MILD BILATERAL (RARE)	OMIM:300881	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:311900	TARP SYNDROME					HP:0000767	Pectus excavatum			IEA	IEA	rare					OMIM-CS:chestribssternumclaviclesandscapulae > PECTUS EXCAVATUM, MILD (RARE)	OMIM:311900	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:311900	TARP SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:311900	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616689	DEHYDRATED HEREDITARY STOMATOCYTOSIS 2					HP:0005518	Increased mean corpuscular volume			IEA	IEA						OMIM-CS:hematology > INCREASED MEAN CORPUSCULAR VOLUME (MCV)	OMIM:616689	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616689	DEHYDRATED HEREDITARY STOMATOCYTOSIS 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616689	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602782	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME					HP:0002594	Pancreatic hypoplasia			IEA	IEA	rare					OMIM-CS:abdomenpancreas > PANCREATIC HYPOPLASIA, MILD (RARE)	OMIM:602782	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602782	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME					HP:0025289	Cervical lymphadenopathy			IEA	IEA						OMIM-CS:headandneckneck > CERVICAL LYMPHADENOPATHY	OMIM:602782	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:156530	METATROPIC DYSPLASIA					HP:0003037	Enlarged joints			IEA	IEA						OMIM-CS:skeletallimbs > PROMINENT JOINTS	OMIM:156530	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:157150	MICROSPHEROPHAKIA WITH HERNIA					HP:0030961	Microspherophakia			IEA	IEA						OMIM-CS:eyes > MICROSPHEROPHAKIA	OMIM:157150	HPO:skoehler	13.07.2017
....
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601678	BARTTER SYNDROME, TYPE 1, ANTENATAL					HP:0000843	Hyperparathyroidism			IEA	IEA	rare					OMIM-CS:endocrinefeatures > HYPERPARATHYROIDISM (IN SOME PATIENTS)	OMIM:601678	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601678	BARTTER SYNDROME, TYPE 1, ANTENATAL					HP:0003072	Hypercalcemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > HYPERCALCEMIA	OMIM:601678	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:230740	GAPO SYNDROME					HP:0000706	Unerupted tooth			IEA	IEA						OMIM-CS:headandneckteeth > PSEUDOANODONTIA (FAILURE OF TOOTH ERUPTION)	OMIM:230740	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615113	MICROPHTHALMIA, ISOLATED 8					HP:0000621	Entropion			IEA	IEA	rare					OMIM-CS:headandneckeyes > ENTROPION, BILATERAL (IN SOME PATIENTS)	OMIM:615113	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0001638	Cardiomyopathy			IEA	IEA						OMIM-CS:cardiovascularheart > CARDIOMYOPATHY	OMIM:604250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0000141	Amenorrhea			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliafemale > AMENORRHEA	OMIM:604250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0000802	Impotence			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > IMPOTENCE	OMIM:604250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0001903	Anemia			IEA	IEA						OMIM-CS:hematology > ANEMIA	OMIM:604250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0001888	Lymphopenia			IEA	IEA						OMIM-CS:hematology > LYMPHOPENIA	OMIM:604250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0001875	Neutropenia			IEA	IEA						OMIM-CS:hematology > NEUTROPENIA	OMIM:604250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0003452	Increased serum iron			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM IRON	OMIM:604250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0012378	Fatigue			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > FATIGUE	OMIM:604250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604250	HEMOCHROMATOSIS, TYPE 3					HP:0001369	Arthritis			IEA	IEA						OMIM-CS:skeletal > ARTHRITIS	OMIM:604250	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616198	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616198	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603284	CEREBRAL CAVERNOUS MALFORMATIONS 2					HP:0001342	Cerebral hemorrhage			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HEMORRHAGIC STROKE	OMIM:603284	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:234100	HALLERMANN-STREIFF SYNDROME					HP:0030799	Scaphocephaly			IEA	IEA						OMIM-CS:headandneckhead > SCAPHOCEPHALY	OMIM:234100	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601390	VAN MALDERGEM SYNDROME 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:601390	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0000639	Nystagmus			IEA	IEA	rare					OMIM-CS:headandneckeyes > NYSTAGMUS (IN SOME PATIENTS)	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001344	Absent speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ABSENT SPEECH	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001272	Cerebellar atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001266	Choreoathetosis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CHOREOATHETOSIS	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0002376	Developmental regression			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL REGRESSION	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0200134	Epileptic encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001288	Gait disturbance			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > IMPAIRED GAIT	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001336	Myoclonus			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MYOCLONUS	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0002063	Rigidity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > RIGIDITY	OMIM:616981	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616981	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY	OMIM:616981	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:150400	TOOTH AGENESIS, SELECTIVE, 4					HP:0010764	Short eyelashes			IEA	IEA	rare					OMIM-CS:headandneckeyes > SHORT EYELASHES (IN SOME PATIENTS)	OMIM:150400	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:150400	TOOTH AGENESIS, SELECTIVE, 4					HP:0045075	Sparse eyebrow			IEA	IEA	rare					OMIM-CS:headandneckeyes > SPARSE EYEBROWS (IN SOME PATIENTS)	OMIM:150400	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:150400	TOOTH AGENESIS, SELECTIVE, 4					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:150400	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:150400	TOOTH AGENESIS, SELECTIVE, 4					HP:0008070	Sparse hair			IEA	IEA	rare					OMIM-CS:skinnailshairhair > SPARSE HAIR (IN SOME PATIENTS)	OMIM:150400	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:150400	TOOTH AGENESIS, SELECTIVE, 4					HP:0000958	Dry skin			IEA	IEA	rare					OMIM-CS:skinnailshairskin > DRY SKIN (IN SOME PATIENTS)	OMIM:150400	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0000482	Microcornea			IEA	IEA	rare					OMIM-CS:headandneckeyes > MICROCORNEA (IN ONE PATIENT)	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0000639	Nystagmus			IEA	IEA	rare					OMIM-CS:headandneckeyes > NYSTAGMUS (IN ONE PATIENT)	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0002342	Intellectual disability, moderate			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MODERATE	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0001270	Motor delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0002136	Broad-based gait			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > WIDE-BASED GAIT (IN ONE PATIENT)	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0002750	Delayed skeletal maturation			IEA	IEA	rare					OMIM-CS:skeletal > DELAYED BONE AGE (IN ONE PATIENT)	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0001761	Pes cavus			IEA	IEA	rare					OMIM-CS:skeletalfeet > PES CAVUS, BILATERAL (IN ONE PATIENT)	OMIM:616943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616943	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE					HP:0002673	Coxa valga			IEA	IEA	rare					OMIM-CS:skeletalpelvis > COXA VALGA, BILATERAL (IN ONE PATIENT)	OMIM:616943	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:166600	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2					HP:0000572	Visual loss			IEA	IEA						OMIM-CS:headandneckeyes > VISION LOSS, SEVERE, BEGINNING IN CHILDHOOD (12 OF 62 PATIENTS)	OMIM:166600	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601086	LATERALITY DEFECTS, AUTOSOMAL DOMINANT					HP:0030853	Heterotaxy			IEA	IEA						OMIM-CS:growth > HETEROTAXY	OMIM:601086	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615438	INFANTILE LIVER FAILURE SYNDROME 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:615438	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:110100	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS					HP:0000013	Hypoplasia of the uterus			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS	OMIM:110100	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617321	YAO SYNDROME					HP:0001824	Weight loss			IEA	IEA	rare					OMIM-CS:growthweight > WEIGHT LOSS (IN SOME PATIENTS)	OMIM:617321	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617321	YAO SYNDROME					HP:0001097	Keratoconjunctivitis sicca			IEA	IEA						OMIM-CS:headandneckeyes > DRY EYES	OMIM:617321	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617321	YAO SYNDROME					HP:0000217	Xerostomia			IEA	IEA						OMIM-CS:headandneckmouth > DRY MOUTH	OMIM:617321	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617321	YAO SYNDROME					HP:0000554	Uveitis			IEA	IEA				NOT	NOT	OMIM-CS:miscellaneous > PATIENTS DO NOT EXHIBIT UVEITIS	OMIM:617321	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0002028	Chronic diarrhea			IEA	IEA						OMIM-CS:abdomengastrointestinal > CHRONIC DIARRHEA	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0002024	Malabsorption			IEA	IEA						OMIM-CS:abdomengastrointestinal > MALABSORPTION	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000411	Protruding ear			IEA	IEA	rare					OMIM-CS:headandneckears > PROTRUDING EARS (IN SOME PATIENTS)	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0001097	Keratoconjunctivitis sicca			IEA	IEA	rare					OMIM-CS:headandneckeyes > DRY EYE SYNDROME (IN SOME PATIENTS)	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000482	Microcornea			IEA	IEA	rare					OMIM-CS:headandneckeyes > MICROCORNEA (IN SOME PATIENTS)	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000568	Microphthalmia			IEA	IEA	rare					OMIM-CS:headandneckeyes > MICROPHTHALMIA (RARE)	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPHOBIA	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000278	Retrognathia			IEA	IEA						OMIM-CS:headandneckface > RECEDING CHIN	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0002671	Basal cell carcinoma			IEA	IEA						OMIM-CS:neoplasia > BASAL CELL CARCINOMA	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0002860	Squamous cell carcinoma			IEA	IEA						OMIM-CS:neoplasia > SQUAMOUS CELL CARCINOMA	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0008070	Sparse hair			IEA	IEA						OMIM-CS:skinnailshairhair > SPARSE HAIR	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0002213	Fine hair			IEA	IEA						OMIM-CS:skinnailshairhair > THIN HAIR	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0009886	Trichorrhexis nodosa			IEA	IEA						OMIM-CS:skinnailshairhair > TRICHORRHEXIS NODOSA	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0008404	Nail dystrophy			IEA	IEA						OMIM-CS:skinnailshairnails > DYSTROPHIC NAILS	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0001792	Small nail			IEA	IEA						OMIM-CS:skinnailshairnails > HYPOPLASTIC NAILS	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0000958	Dry skin			IEA	IEA						OMIM-CS:skinnailshairskin > DRY SKIN	OMIM:601675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601675	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE					HP:0001480	Freckling			IEA	IEA						OMIM-CS:skinnailshairskin > FRECKLING	OMIM:601675	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0001636	Tetralogy of Fallot			IEA	IEA						OMIM-CS:cardiovascularheart > TETRALOGY OF FALLOT	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0001660	Truncus arteriosus			IEA	IEA						OMIM-CS:cardiovascularheart > TRUNCUS ARTERIOSUS	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0011611	Interrupted aortic arch			IEA	IEA						OMIM-CS:cardiovascularvascular > INTERRUPTED AORTIC ARCH	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0010773	Partial anomalous pulmonary venous return			IEA	IEA						OMIM-CS:cardiovascularvascular > PARTIAL ANOMALOUS PULMONARY VENOUS RETURN	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0005301	Persistent left superior vena cava			IEA	IEA						OMIM-CS:cardiovascularvascular > PERSISTENT LEFT SUPERIOR VENA CAVA	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0012020	Right aortic arch			IEA	IEA						OMIM-CS:cardiovascularvascular > RIGHT AORTIC ARCH	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0000107	Renal cyst			IEA	IEA						OMIM-CS:genitourinarykidneys > RENAL CYSTS	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0000083	Renal insufficiency			IEA	IEA						OMIM-CS:genitourinarykidneys > RENAL FAILURE	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY (IN 1 PATIENT)	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0007430	Generalized edema			IEA	IEA						OMIM-CS:musclesofttissue > GENERALIZED EDEMA	OMIM:617478	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617478	STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME					HP:0001338	Partial agenesis of the corpus callosum			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > PARTIAL AGENESIS OF CORPUS CALLOSUM (IN SOME PATIENTS)	OMIM:617478	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:135400	HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA					HP:0012810	Wide nasal base			IEA	IEA	rare					OMIM-CS:headandnecknose > BROAD BASE OF NOSE (IN SOME PATIENTS)	OMIM:135400	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614381	LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:614381	HPO:skoehler	13.07.2017
..................filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:153480	BANNAYAN-RILEY-RUVALCABA SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:153480	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609952	DEAFNESS, AUTOSOMAL RECESSIVE 55					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:609952	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615597	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:615597	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615578	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615578	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:304110	CRANIOFRONTONASAL SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:304110	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616127	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE DISORDER	OMIM:616127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616127	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616127	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616127	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17					HP:0001337	Tremor			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TREMOR	OMIM:616127	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616286	LETHAL CONGENITAL CONTRACTURE SYNDROME 7					HP:0200136	Oral-pharyngeal dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > DIFFICULTY SWALLOWING	OMIM:616286	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616286	LETHAL CONGENITAL CONTRACTURE SYNDROME 7					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOTONIA	OMIM:616286	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616045	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616045	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602723	PSORIASIS 2					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > EPIDERMAL ACANTHOSIS	OMIM:602723	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616539	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA (PATIENT B)	OMIM:616539	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616539	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26					HP:0012444	Brain atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BRAIN ATROPHY, MILD (PATIENT B)	OMIM:616539	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:261750	GLYCOGEN STORAGE DISEASE IXB					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:261750	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617337	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE					HP:0000322	Short philtrum			IEA	IEA	rare					OMIM-CS:headandneckface > SHORT PHILTRUM (IN SOME PATIENTS)	OMIM:617337	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617337	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE					HP:0011120	Concave nasal ridge			IEA	IEA						OMIM-CS:headandnecknose > SADDLE NOSE	OMIM:617337	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617337	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE					HP:0000695	Natal tooth			IEA	IEA	rare					OMIM-CS:headandneckteeth > NATAL TEETH (RARE)	OMIM:617337	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617337	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617337	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617337	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE					HP:0008404	Nail dystrophy			IEA	IEA						OMIM-CS:skinnailshairnails > NAIL DYSTROPHY	OMIM:617337	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617337	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE					HP:0000966	Hypohidrosis			IEA	IEA						OMIM-CS:skinnailshairskin > DECREASED SWEATING	OMIM:617337	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617337	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE					HP:0040154	Acne inversa			IEA	IEA						OMIM-CS:skinnailshairskin > HIDRADENITIS SUPPURATIVA	OMIM:617337	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617337	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE					HP:0007387	Hypoplastic sweat glands			IEA	IEA						OMIM-CS:skinnailshairskinhistology > HYPOPLASTIC SWEAT GLANDS	OMIM:617337	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612354	INFLAMMATORY BOWEL DISEASE 21					HP:0100279	Ulcerative colitis			IEA	IEA						OMIM-CS:abdomengastrointestinal > ULCERATIVE COLITIS	OMIM:612354	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612354	INFLAMMATORY BOWEL DISEASE 21					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:612354	HPO:skoehler	13.07.2017
....
.............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:103780	ALCOHOL DEPENDENCE					HP:0030955	Alcoholism			IEA	IEA						OMIM-CS:neuro > ALCOHOLISM	OMIM:103780	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616733	COENZYME Q10 DEFICIENCY, PRIMARY, 8					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION	OMIM:616733	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616733	COENZYME Q10 DEFICIENCY, PRIMARY, 8					HP:0008897	Postnatal growth retardation			IEA	IEA						OMIM-CS:growthother > POSTNATAL GROWTH RETARDATION	OMIM:616733	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616733	COENZYME Q10 DEFICIENCY, PRIMARY, 8					HP:0000505	Visual impairment			IEA	IEA						OMIM-CS:headandneckeyes > VISUAL IMPAIRMENT	OMIM:616733	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616733	COENZYME Q10 DEFICIENCY, PRIMARY, 8					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:616733	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616733	COENZYME Q10 DEFICIENCY, PRIMARY, 8					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616733	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616733	COENZYME Q10 DEFICIENCY, PRIMARY, 8					HP:0001270	Motor delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT	OMIM:616733	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616733	COENZYME Q10 DEFICIENCY, PRIMARY, 8					HP:0001562	Oligohydramnios			IEA	IEA						OMIM-CS:prenatalmanifestationsamnioticfluid > OLIGOHYDRAMNIOS	OMIM:616733	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:239500	HYPERPROLINEMIA, TYPE I					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:239500	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:164310	OCULOPHARYNGODISTAL MYOPATHY					HP:0002091	Restrictive ventilatory defect			IEA	IEA						OMIM-CS:respiratory > RESTRICTIVE VENTILATORY DEFECT	OMIM:164310	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0002013	Vomiting			IEA	IEA						OMIM-CS:abdomengastrointestinal > VOMITING	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0008281	Acute hyperammonemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > HYPERAMMONEMIA, ACUTE	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001942	Metabolic acidosis			IEA	IEA						OMIM-CS:metabolicfeatures > METABOLIC ACIDOSIS, EPISODIC	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001425	Heterogeneous			IEA	IEA						OMIM-CS:miscellaneous > GENETIC HETEROGENEITY (SEE MCC1 DEFICIENCY	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > HIGHLY VARIABLE PHENOTYPE	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001259	Coma			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COMA	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001347	Hyperreflexia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001254	Lethargy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LETHARGY	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0002179	Opisthotonus			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > OPISTHOTONUS	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR RETARDATION	OMIM:210210	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210210	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES	OMIM:210210	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615284	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3					HP:0000762	Decreased nerve conduction velocity			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > DECREASED NERVE CONDUCTION VELOCITIES	OMIM:615284	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:612460	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614407	MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, PROGRESSIVE, SEVERE (-8 TO -11 SD)	OMIM:614407	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614407	MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614407	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614558	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614558	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:headandneckhead > MACROCEPHALY (+2.5 SD)	OMIM:600348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:600348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0000708	Behavioral abnormality			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > BEHAVIORAL PROBLEMS	OMIM:600348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0001274	Agenesis of corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > AGENESIS OF THE CORPUS CALLOSUM	OMIM:600348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:600348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE	OMIM:600348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0002126	Polymicrogyria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > POLYMICROGYRIA	OMIM:600348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0002360	Sleep disturbance			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SLEEP DISTURBANCES	OMIM:600348	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600348	BAND HETEROTOPIA					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY	OMIM:600348	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:203700	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:203700	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:203700	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:203700	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:248800	MARINESCO-SJOGREN SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:248800	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613454	RETT SYNDROME, CONGENITAL VARIANT					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:613454	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614702	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614702	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616649	SPHEROCYTOSIS, TYPE 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616649	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617272	GLAUCOMA 3, PRIMARY CONGENITAL, E					HP:0000485	Megalocornea			IEA	IEA						OMIM-CS:headandneckeyes > INCREASED CORNEAL DIAMETER (GREATER THAN 10 MM)	OMIM:617272	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617272	GLAUCOMA 3, PRIMARY CONGENITAL, E					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617272	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616367	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA					HP:0000211	Trismus			IEA	IEA						OMIM-CS:headandneckface > LIMITED JAW MOBILITY	OMIM:616367	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604273	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:604273	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:186580	BLAU SYNDROME					HP:0025230	Tendonitis			IEA	IEA						OMIM-CS:skeletal > TENDONITIS	OMIM:186580	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:613152	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615434	RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS					HP:0007787	Posterior subcapsular cataract			IEA	IEA	rare					OMIM-CS:headandneckeyes > POSTERIOR SUBCAPSULAR CATARACTS, MILD (RARE)	OMIM:615434	HPO:skoehler	13.07.2017
.filter this Sun May 28 00:00:00 CEST 2017
OMIM:610828	HOLOPROSENCEPHALY 7					HP:0001250	Seizures			TAS	TAS							MIM:610828	HPO:probinson	2017-05-28
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610828	HOLOPROSENCEPHALY 7					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE HYPOPLASIA	OMIM:610828	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610828	HOLOPROSENCEPHALY 7					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE	OMIM:610828	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610828	HOLOPROSENCEPHALY 7					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES	OMIM:610828	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617123	RETINITIS PIGMENTOSA 76					HP:0011505	Cystoid macular edema			IEA	IEA	rare					OMIM-CS:headandneckeyes > CYSTOID MACULAR EDEMA (IN SOME PATIENTS)	OMIM:617123	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617123	RETINITIS PIGMENTOSA 76					HP:0000662	Nyctalopia			IEA	IEA						OMIM-CS:headandneckeyes > NYCTALOPIA	OMIM:617123	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617123	RETINITIS PIGMENTOSA 76					HP:0007663	Reduced visual acuity			IEA	IEA						OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY	OMIM:617123	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617123	RETINITIS PIGMENTOSA 76					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617123	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602483	AURICULOCONDYLAR SYNDROME 1					HP:0025267	Snoring			IEA	IEA						OMIM-CS:respiratory > SNORING	OMIM:602483	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:269880	SHORT SYNDROME					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE HYPOPLASIA	OMIM:269880	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:269880	SHORT SYNDROME					HP:0002714	Downturned corners of mouth			IEA	IEA						OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF THE MOUTH	OMIM:269880	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0000512	Abnormal electroretinogram			IEA	IEA						OMIM-CS:headandneckeyes > ABNORMAL ELECTRORETINOGRAM (1 FAMILY)	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0100704	Cortical visual impairment			IEA	IEA	rare					OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT (IN SOME PATIENTS)	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0000556	Retinal dystrophy			IEA	IEA						OMIM-CS:headandneckeyes > RETINAL DYSTROPHY (1 FAMILY)	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > SMALL HEAD	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0000154	Wide mouth			IEA	IEA						OMIM-CS:headandneckmouth > LARGE MOUTH	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0000470	Short neck			IEA	IEA						OMIM-CS:headandneckneck > SHORT NECK	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0000164	Abnormality of the dentition			IEA	IEA						OMIM-CS:headandneckteeth > ABNORMAL TEETH	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0001321	Cerebellar hypoplasia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN SOME PATIENTS)	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0012448	Delayed myelination			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (IN SOME PATIENTS)	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0001276	Hypertonia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPERTONIA (IN SOME PATIENTS)	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0001257	Spasticity			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (IN SOME PATIENTS)	OMIM:615802	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN SOME PATIENTS)	OMIM:615802	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606893	VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS					HP:0001537	Umbilical hernia			IEA	IEA						OMIM-CS:abdomengastrointestinal > UMBILICAL HERNIA	OMIM:606893	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606893	VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS					HP:0000520	Proptosis			IEA	IEA						OMIM-CS:headandneckeyes > EXOPHTHALMOS	OMIM:606893	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606893	VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS					HP:0000572	Visual loss			IEA	IEA						OMIM-CS:headandneckeyes > VISION LOSS	OMIM:606893	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606893	VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS					HP:0000225	Gingival bleeding			IEA	IEA						OMIM-CS:headandneckmouth > GINGIVAL BLEEDING	OMIM:606893	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606893	VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:606893	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606893	VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS					HP:0003155	Elevated alkaline phosphatase			IEA	IEA						OMIM-CS:laboratoryabnormalities > ELEVATED ALKALINE PHOSPHATASE	OMIM:606893	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606893	VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS					HP:0002516	Increased intracranial pressure			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > INCREASED INTRACRANIAL PRESSURE (IN SOME PATIENTS)	OMIM:606893	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614959	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614959	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614959	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614959	HPO:skoehler	13.07.2017
...filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001233	2-3 finger syndactyly			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002101	Abnormal lung lobation			TAS	TAS							OMIM:312870	HPO:probinson	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0005616	Accelerated skeletal maturation			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001274	Agenesis of corpus callosum			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0011675	Arrhythmia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0003517	Birth length greater than 97th percentile			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001769	Broad foot			TAS	TAS							OMIM:312870	HPO:probinson	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001169	Broad palm			TAS	TAS							OMIM:312870	HPO:probinson	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000216	Broad secondary alveolar ridge			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0011304	Broad thumb			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001837	Broad toe			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001638	Cardiomyopathy			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001320	Cerebellar vermis hypoplasia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000891	Cervical ribs			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000175	Cleft palate			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000280	Coarse facial features			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000776	Congenital diaphragmatic hernia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000028	Cryptorchidism			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000689	Dental malocclusion			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0005280	Depressed nasal bridge			TAS	TAS							OMIM:312870	HPO:skoehler	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001540	Diastasis recti			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000494	Downslanted palpebral fissures			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0005580	Duplication of renal pelvis			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000105	Enlarged kidneys			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000286	Epicanthus			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002869	Flared iliac wings			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000365	Hearing impairment			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002240	Hepatomegaly			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000238	Hydrocephalus			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000316	Hypertelorism			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000047	Hypospadias			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000023	Inguinal hernia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002566	Intestinal malrotation			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000256	Macrocephaly			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000158	Macroglossia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002245	Meckel diverticulum			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001252	Muscular hypotonia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0008803	Narrow sacroiliac notch			TAS	TAS							OMIM:312870	HPO:probinson	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0008815	Narrow sacroiliac notches in infancy			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002667	Nephroblastoma (Wilms tumor)			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0004510	Pancreatic islet-cell hyperplasia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001643	Patent ductus arteriosus			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000767	Pectus excavatum			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001748	Polysplenia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001162	Postaxial hand polydactyly			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0004467	Preauricular pit			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000384	Preauricular skin tag			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001642	Pulmonic stenosis			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000107	Renal cyst			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002650	Scoliosis			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0009882	Short distal phalanx of finger			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001773	Short foot			TAS	TAS							OMIM:312870	HPO:probinson	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0003196	Short nose			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0004279	Short palm			TAS	TAS							OMIM:312870	HPO:probinson	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0008416	Six lumbar vertebrae			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001792	Small nail			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001744	Splenomegaly			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0009101	Submucous cleft lip			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002558	Supernumerary nipple			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001762	Talipes equinovarus			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001669	Transposition of the great arteries			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0006176	Two carpal ossification centers present at birth			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001537	Umbilical hernia			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000427	Upturned nose			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001629	Ventricular septal defect			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0003422	Vertebral segmentation defect			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000154	Wide mouth			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000431	Wide nasal bridge			TAS	TAS							OMIM:312870	HPO:probinson	2017-05-25
filter this Thu May 25 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001419	X-linked recessive inheritance			IEA	IEA							OMIM:312870	HPO	2017-05-25
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001540	Diastasis recti			IEA	IEA						OMIM-CS:abdomenexternalfeatures > DIASTASIS RECTI	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001537	Umbilical hernia			IEA	IEA						OMIM-CS:abdomenexternalfeatures > UMBILICAL HERNIAS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002566	Intestinal malrotation			IEA	IEA						OMIM-CS:abdomengastrointestinal > INTESTINAL MALROTATION	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002245	Meckel diverticulum			IEA	IEA						OMIM-CS:abdomengastrointestinal > MECKEL DIVERTICULUM	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002240	Hepatomegaly			IEA	IEA						OMIM-CS:abdomenliver > HEPATOMEGALY	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0004510	Pancreatic islet-cell hyperplasia			IEA	IEA						OMIM-CS:abdomenpancreas > HYPERPLASTIC ISLETS OF LANGERHANS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001748	Polysplenia			IEA	IEA						OMIM-CS:abdomenspleen > POLYSPLENIA	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001744	Splenomegaly			IEA	IEA						OMIM-CS:abdomenspleen > SPLENOMEGALY	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0011675	Arrhythmia			IEA	IEA						OMIM-CS:cardiovascularheart > CARDIAC CONDUCTION DEFECTS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001638	Cardiomyopathy			IEA	IEA						OMIM-CS:cardiovascularheart > CARDIOMYOPATHY	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001642	Pulmonic stenosis			IEA	IEA						OMIM-CS:cardiovascularheart > PULMONIC STENOSIS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001643	Patent ductus arteriosus			IEA	IEA						OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001669	Transposition of the great arteries			IEA	IEA						OMIM-CS:cardiovascularvascular > TRANSPOSITION OF GREAT VESSELS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002558	Supernumerary nipple			IEA	IEA						OMIM-CS:chestbreasts > SUPERNUMERARY NIPPLES	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000776	Congenital diaphragmatic hernia			IEA	IEA						OMIM-CS:chestdiaphragm > DIAPHRAGMATIC HERNIA	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000891	Cervical ribs			IEA	IEA						OMIM-CS:chestribssternumclaviclesandscapulae > CERVICAL RIBS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000767	Pectus excavatum			IEA	IEA						OMIM-CS:chestribssternumclaviclesandscapulae > PECTUS EXCAVATUM	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000047	Hypospadias			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > HYPOSPADIAS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000023	Inguinal hernia			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > INGUINAL HERNIA	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000028	Cryptorchidism			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTORCHIDISM	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000107	Renal cyst			IEA	IEA						OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0005580	Duplication of renal pelvis			IEA	IEA						OMIM-CS:genitourinarykidneys > DUPLICATION OF RENAL PELVIS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000105	Enlarged kidney			IEA	IEA						OMIM-CS:genitourinarykidneys > LARGE KIDNEYS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0003517	Birth length greater than 97th percentile			IEA	IEA						OMIM-CS:growthheight > BIRTH LENGTH GREATER THAN 97TH PERCENTILE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000098	Tall stature			IEA	IEA						OMIM-CS:growthheight > TALL STATURE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000365	Hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0004467	Preauricular pit			IEA	IEA						OMIM-CS:headandneckears > PREAURICULAR PITS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000384	Preauricular skin tag			IEA	IEA						OMIM-CS:headandneckears > PREAURICULAR TAGS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000286	Epicanthus			IEA	IEA						OMIM-CS:headandneckeyes > EPICANTHAL FOLDS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000280	Coarse facial features			IEA	IEA						OMIM-CS:headandneckface > COARSE FACIES	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:headandneckhead > MACROCEPHALY	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000216	Broad secondary alveolar ridge			IEA	IEA						OMIM-CS:headandneckmouth > BROAD SECONDARY ALVEOLAR RIDGE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000175	Cleft palate			IEA	IEA						OMIM-CS:headandneckmouth > CLEFT PALATE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000158	Macroglossia			IEA	IEA						OMIM-CS:headandneckmouth > MACROGLOSSIA	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000154	Wide mouth			IEA	IEA						OMIM-CS:headandneckmouth > MACROSTOMIA	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0009101	Submucous cleft lip			IEA	IEA						OMIM-CS:headandneckmouth > SUBMUCOUS CLEFT LIP	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000431	Wide nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > BROAD FLAT NASAL BRIDGE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0003196	Short nose			IEA	IEA						OMIM-CS:headandnecknose > SHORT NOSE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > UPTURNED NOSE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000689	Dental malocclusion			IEA	IEA						OMIM-CS:headandneckteeth > DENTAL MALOCCLUSION	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002898	Embryonal neoplasm			IEA	IEA						OMIM-CS:neoplasia > EMBRYONAL TUMORS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002667	Nephroblastoma			IEA	IEA						OMIM-CS:neoplasia > WILMS TUMOR	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001274	Agenesis of corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > AGENESIS OF CORPUS CALLOSUM	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001320	Cerebellar vermis hypoplasia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR VERMIS HYPOPLASIA	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0000238	Hydrocephalus			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYDROCEPHALUS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002101	Abnormal lung lobation			IEA	IEA						OMIM-CS:respiratorylung > LUNG SEGMENTATION DEFECTS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0005616	Accelerated skeletal maturation			IEA	IEA						OMIM-CS:skeletal > ADVANCED BONE AGE	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > CLUBFOOT	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0011304	Broad thumb			IEA	IEA						OMIM-CS:skeletalhands > BROAD THUMBS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0009882	Short distal phalanx of finger			IEA	IEA						OMIM-CS:skeletalhands > DISTAL PHALANGEAL HYPOPLASIA	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0100259	Postaxial polydactyly			IEA	IEA						OMIM-CS:skeletalhands > POSTAXIAL POLYDACTYLY	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0001233	2-3 finger syndactyly			IEA	IEA						OMIM-CS:skeletalhands > SYNDACTYLY 2ND-3RD FINGERS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0006176	Two carpal ossification centers present at birth			IEA	IEA						OMIM-CS:skeletalhands > TWO CARPAL OSSIFICATION CENTERS PRESENT AT BIRTH	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002869	Flared iliac wings			IEA	IEA						OMIM-CS:skeletalpelvis > FLARED ILIAC WING	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:312870	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1					HP:0008416	Six lumbar vertebrae			IEA	IEA						OMIM-CS:skeletalspine > SIX LUMBAR VERTEBRAE	OMIM:312870	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617433	RETINITIS PIGMENTOSA 78					HP:0011505	Cystoid macular edema			IEA	IEA						OMIM-CS:headandneckeyes > CYSTOID MACULAR EDEMA	OMIM:617433	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617433	RETINITIS PIGMENTOSA 78					HP:0000543	Optic disc pallor			IEA	IEA						OMIM-CS:headandneckeyes > OPTIC DISC PALLOR	OMIM:617433	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617433	RETINITIS PIGMENTOSA 78					HP:0030786	Photopsia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPSIA	OMIM:617433	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617433	RETINITIS PIGMENTOSA 78					HP:0007663	Reduced visual acuity			IEA	IEA						OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY	OMIM:617433	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617433	RETINITIS PIGMENTOSA 78					HP:0001123	Visual field defect			IEA	IEA						OMIM-CS:headandneckeyes > VISUAL FIELD DEFECTS	OMIM:617433	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617433	RETINITIS PIGMENTOSA 78					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617433	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607944	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION					HP:0001256	Intellectual disability, mild			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > MILD MENTAL RETARDATION (IN SOME PATIENTS)	OMIM:607944	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607944	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION					HP:0002478	Progressive spastic quadriplegia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PROGRESSIVE SPASTIC QUADRIPARESIS	OMIM:607944	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607944	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION					HP:0001264	Spastic diplegia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTIC DIPLEGIA	OMIM:607944	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607944	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY	OMIM:607944	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607944	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION					HP:0002938	Lumbar hyperlordosis			IEA	IEA						OMIM-CS:skeletalspine > INCREASED LUMBAR LORDOSIS	OMIM:607944	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607944	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION					HP:0002751	Kyphoscoliosis			IEA	IEA						OMIM-CS:skeletalspine > KYPHOSCOLIOSIS	OMIM:607944	HPO:skoehler	13.07.2017
....filter this Mon May 29 00:00:00 CEST 2017
OMIM:155310	MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL					HP:0004389	Intestinal pseudo-obstruction			TAS	TAS						Recurrent	OMIM:155310	HPO:probinson	2017-05-29
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614643	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614643	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614643	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614643	HPO:skoehler	13.07.2017
.
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0002025	Anal stenosis			IEA	IEA						OMIM-CS:abdomengastrointestinal > ANAL STENOSIS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0100867	Duodenal stenosis			IEA	IEA						OMIM-CS:abdomengastrointestinal > DUODENAL STENOSIS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0002023	Anal atresia			IEA	IEA						OMIM-CS:abdomengastrointestinal > IMPERFORATE ANUS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0001674	Complete atrioventricular canal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIOVENTRICULAR CANAL	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0008665	Clitoral hypertrophy			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliafemale > CLITOROMEGALY	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000047	Hypospadias			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > HYPOSPADIAS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000054	Micropenis			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > MICROPENIS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0012227	Urethral stricture			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > URETHRAL STRICTURE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000028	Cryptorchidism			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > UNDESCENDED TESTES	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000076	Vesicoureteral reflux			IEA	IEA						OMIM-CS:genitourinaryureters > VESICOURETERAL REFLUX	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0001510	Growth delay			IEA	IEA						MODIFIER:PROGRESSIVE;OMIM-CS:growthother > GROWTH FAILURE, PROGRESSIVE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0004325	Decreased body weight			IEA	IEA						OMIM-CS:growthweight > LOW WEIGHT	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000365	Hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0008551	Microtia			IEA	IEA						OMIM-CS:headandneckears > MICROTIA	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000545	Myopia			IEA	IEA						OMIM-CS:headandneckeyes > MYOPIA	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000520	Proptosis			IEA	IEA						OMIM-CS:headandneckeyes > PROPTOSIS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0045074	Thin eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > THIN EYEBROWS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0001363	Craniosynostosis			IEA	IEA						OMIM-CS:headandneckhead > CRANIOSYNOSTOSIS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, PROGRESSIVE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000175	Cleft palate			IEA	IEA						OMIM-CS:headandneckmouth > CLEFT PALATE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH PALATE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000160	Narrow mouth			IEA	IEA						OMIM-CS:headandneckmouth > SMALL MOUTH	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000453	Choanal atresia			IEA	IEA						OMIM-CS:headandnecknose > CHOANAL ATRESIA	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0007099	Arnold-Chiari type I malformation			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CHIARI I MALFORMATION (IN 1 PATIENT)	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY, MILD TO SEVERE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0002089	Pulmonary hypoplasia			IEA	IEA						OMIM-CS:respiratorylung > PULMONARY HYPOPLASIA (IN 1 PATIENT)	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0004691	2-3 toe syndactyly			IEA	IEA						OMIM-CS:skeletalfeet > SYNDACTYLY OF SECOND AND THIRD TOES	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0001217	Clubbing			IEA	IEA						OMIM-CS:skeletalhands > DIGITAL CLUBBING (IN 1 PATIENT)	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0100258	Preaxial polydactyly			IEA	IEA						OMIM-CS:skeletalhands > PREAXIAL POLYDACTYLY, BILATERAL (IN 1 PATIENT)	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0002979	Bowing of the legs			IEA	IEA						OMIM-CS:skeletallimbs > BOWED LEGS (IN 1 PATIENT)	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0001388	Joint laxity			IEA	IEA						OMIM-CS:skeletallimbs > JOINT LAXITY (IN 1 PATIENT)	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0006498	Aplasia/Hypoplasia of the patella			IEA	IEA						OMIM-CS:skeletallimbs > PATELLAR APLASIA/HYPOPLASIA	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000260	Wide anterior fontanel			IEA	IEA						OMIM-CS:skeletalskull > LARGE ANTERIOR FONTANEL	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:skeletalskull > MICROCEPHALY, PROGRESSIVE	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0004442	Sagittal craniosynostosis			IEA	IEA						OMIM-CS:skeletalskull > SAGITTAL CRANIOSYNOSTOSIS	OMIM:617063	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617063	MEIER-GORLIN SYNDROME 7					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS (IN 1 PATIENT)	OMIM:617063	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE					HP:0001878	Hemolytic anemia			IEA	IEA	rare					OMIM-CS:hematology > HEMOLYTIC ANEMIA (1 PATIENT)	OMIM:616744	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE					HP:0001873	Thrombocytopenia			IEA	IEA	rare					OMIM-CS:hematology > THROMBOCYTOPENIA (1 PATIENT)	OMIM:616744	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE					HP:0000988	Skin rash			IEA	IEA	rare					OMIM-CS:skinnailshairskin > RASH (IN SOME PATIENTS)	OMIM:616744	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312170	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:312170	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617046	SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617046	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617046	SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE	OMIM:617046	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617046	SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE					HP:0007210	Lower limb amyotrophy			IEA	IEA						OMIM-CS:musclesofttissue > LOWER LIMB AMYOTROPHY	OMIM:617046	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617046	SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE					HP:0003487	Babinski sign			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EXTENSOR PLANTAR RESPONSES	OMIM:617046	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617046	SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE					HP:0001347	Hyperreflexia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA	OMIM:617046	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617046	SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE					HP:0001258	Spastic paraplegia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTIC PARAPLEGIA	OMIM:617046	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611126	MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:611126	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA						OMIM-CS:musclesofttissue > AXIAL HYPOTONIA	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0002072	Chorea			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CHOREA	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSTONIA	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0010780	Hyperacusis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERACUSIS	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0001347	Hyperreflexia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0002371	Loss of speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LOSS OF SPEECH	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0002180	Neurodegeneration			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > NEURODEGENERATION	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0002476	Primitive reflex			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PRIMITIVE REFLEXES	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0007256	Abnormal pyramidal signs			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PYRAMIDAL TRACT SIGNS	OMIM:272750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:272750	GM2-GANGLIOSIDOSIS, AB VARIANT					HP:0001285	Spastic tetraparesis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTIC QUADRIPARESIS	OMIM:272750	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:158600	SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT					HP:0001263	Global developmental delay			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > COGNITIVE DELAY, MILD (1 PATIENT)	OMIM:158600	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613443	MENTAL RETARDATION, AUTOSOMAL DOMINANT 20					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:613443	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613443	MENTAL RETARDATION, AUTOSOMAL DOMINANT 20					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:613443	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616228	MYASTHENIC SYNDROME, CONGENITAL, 14					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS)	OMIM:616228	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614377	NEPHRONOPHTHISIS 13					HP:0001407	Hepatic cysts			IEA	IEA	rare					OMIM-CS:abdomenliver > HEPATIC CYSTS (IN SOME PATIENTS)	OMIM:614377	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614377	NEPHRONOPHTHISIS 13					HP:0001737	Pancreatic cysts			IEA	IEA	rare					OMIM-CS:abdomenpancreas > PANCREATIC CYSTS (IN SOME PATIENTS)	OMIM:614377	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614377	NEPHRONOPHTHISIS 13					HP:0000556	Retinal dystrophy			IEA	IEA	rare					OMIM-CS:headandneckeyes > RETINAL DYSTROPHY (IN SOME PATIENTS)	OMIM:614377	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614377	NEPHRONOPHTHISIS 13					HP:0010442	Polydactyly			IEA	IEA	rare					OMIM-CS:skeletalhands > POLYDACTYLY (IN SOME PATIENTS)	OMIM:614377	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:212350	SENGERS SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:212350	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:212350	SENGERS SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:212350	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602771	RIGID SPINE MUSCULAR DYSTROPHY 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:602771	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617392	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE					HP:0000316	Hypertelorism			IEA	IEA	rare					OMIM-CS:headandneckeyes > HYPERTELORISM (IN SOME PATIENTS)	OMIM:617392	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617392	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE					HP:0012471	Thick vermilion border			IEA	IEA	rare					OMIM-CS:headandneckmouth > THICK LIPS (IN SOME PATIENTS)	OMIM:617392	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617392	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE					HP:0000431	Wide nasal bridge			IEA	IEA	rare					OMIM-CS:headandnecknose > BROAD NASAL BRIDGE (IN SOME PATIENTS)	OMIM:617392	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617392	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE					HP:0005280	Depressed nasal bridge			IEA	IEA	rare					OMIM-CS:headandnecknose > LOW NASAL BRIDGE (IN SOME PATIENTS)	OMIM:617392	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617392	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617392	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617392	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE					HP:0000294	Low anterior hairline			IEA	IEA						OMIM-CS:skinnailshairhair > LOW ANTERIOR HAIRLINE	OMIM:617392	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617392	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE					HP:0045074	Thin eyebrow			IEA	IEA						OMIM-CS:skinnailshairhair > THIN EYEBROWS	OMIM:617392	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617392	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE					HP:0000653	Sparse eyelashes			IEA	IEA						OMIM-CS:skinnailshairhair > THIN EYELASHES	OMIM:617392	HPO:skoehler	13.07.2017
...filter this Fri Jul 08 00:00:00 CEST 2016
OMIM:215150	#215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED;;CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS;;NANCE-INSLEY SYNDROME;;NANCE-SWEENEY CHONDRODYSPLASIA					HP:0004568	Beaking of vertebral bodies			TAS	TAS							OMIM:215150	HPO:probinson	08-Jul-2016	
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300419	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED					HP:0000629	Periorbital fullness			IEA	IEA	rare					OMIM-CS:headandneckeyes > PERIORBITAL FULLNESS (IN SOME PATIENTS)	OMIM:300419	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300419	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED					HP:0000637	Long palpebral fissure			IEA	IEA	rare					OMIM-CS:headandneckeyes > WIDE PALPEBRAL FISSURES (IN SOME PATIENTS)	OMIM:300419	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300419	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS)	OMIM:300419	HPO:skoehler	13.07.2017
..............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:100675	ACETAMINOPHEN METABOLISM					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:100675	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:100675	ACETAMINOPHEN METABOLISM					HP:0000952	Jaundice			IEA	IEA						OMIM-CS:skin > JAUNDICE	OMIM:100675	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616892	NEPHROTIC SYNDROME, TYPE 12					HP:0001967	Diffuse mesangial sclerosis			IEA	IEA						OMIM-CS:genitourinarykidneys > DIFFUSE MESANGIAL SCLEROSIS	OMIM:616892	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616892	NEPHROTIC SYNDROME, TYPE 12					HP:0003774	Stage 5 chronic kidney disease			IEA	IEA						OMIM-CS:genitourinarykidneys > END-STAGE RENAL DISEASE	OMIM:616892	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616892	NEPHROTIC SYNDROME, TYPE 12					HP:0000790	Hematuria			IEA	IEA						OMIM-CS:laboratoryabnormalities > HEMATURIA	OMIM:616892	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616892	NEPHROTIC SYNDROME, TYPE 12					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:616892	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611705	SALIH MYOPATHY					HP:0001371	Flexion contracture			IEA	IEA						OMIM-CS:skeletal > JOINT CONTRACTURES	OMIM:611705	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611705	SALIH MYOPATHY					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:611705	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300855	OGDEN SYNDROME					HP:0010803	Everted upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > PROTRUDING UPPER LIP	OMIM:300855	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612527	DIAMOND-BLACKFAN ANEMIA 4					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:612527	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612527	DIAMOND-BLACKFAN ANEMIA 4					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:612527	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612527	DIAMOND-BLACKFAN ANEMIA 4					HP:0001510	Growth delay			IEA	IEA						OMIM-CS:growthother > GROWTH RETARDATION	OMIM:612527	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612527	DIAMOND-BLACKFAN ANEMIA 4					HP:0001999	Abnormal facial shape			IEA	IEA						OMIM-CS:headandneckface > FACIAL DYSMORPHISM	OMIM:612527	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612527	DIAMOND-BLACKFAN ANEMIA 4					HP:0001875	Neutropenia			IEA	IEA						OMIM-CS:hematology > NEUTROPENIA	OMIM:612527	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:257920	3MC SYNDROME 1					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:257920	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:257920	3MC SYNDROME 1					HP:0001643	Patent ductus arteriosus			IEA	IEA						OMIM-CS:cardiovascularheart > PATENT DUCTUS ARTERIOSUS	OMIM:257920	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:257920	3MC SYNDROME 1					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:257920	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:257920	3MC SYNDROME 1					HP:0002825	Caudal appendage			IEA	IEA						OMIM-CS:skinnailshairskin > CAUDAL APPENDAGE (SACRAL CYST)	OMIM:257920	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300498	MENTAL RETARDATION, X-LINKED 45					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:300498	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300498	MENTAL RETARDATION, X-LINKED 45					HP:0000411	Protruding ear			IEA	IEA						OMIM-CS:headandneckears > PROMINENT EARS	OMIM:300498	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300498	MENTAL RETARDATION, X-LINKED 45					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE	OMIM:300498	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300498	MENTAL RETARDATION, X-LINKED 45					HP:0000426	Prominent nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > HIGH NASAL BRIDGE	OMIM:300498	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0001394	Cirrhosis			IEA	IEA						OMIM-CS:abdomenliver > CIRRHOSIS	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0001399	Hepatic failure			IEA	IEA						OMIM-CS:abdomenliver > LIVER FAILURE	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0008151	Prolonged prothrombin time			IEA	IEA						OMIM-CS:hematology > PROLONGED PROTHROMBIN TIME	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0002910	Elevated hepatic transaminases			IEA	IEA						OMIM-CS:laboratoryabnormalities > ABNORMAL LIVER ENZYMES	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0001987	Hyperammonemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > HYPERAMMONEMIA	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0001943	Hypoglycemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > HYPOGLYCEMIA	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0003678	Rapidly progressive			IEA	IEA						OMIM-CS:miscellaneous > RAPID PROGRESSION	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0000969	Edema			IEA	IEA	rare					OMIM-CS:prenatalmanifestationsamnioticfluid > HYDROPS (1 PATIENT)	OMIM:617049	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5					HP:0000952	Jaundice			IEA	IEA						OMIM-CS:skinnailshairskin > JAUNDICE	OMIM:617049	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610247	ESOPHAGITIS, EOSINOPHILIC, 1					HP:0410019	Epigastric pain			IEA	IEA						OMIM-CS:abdomengastrointestinal > EPIGASTRIC PAIN	OMIM:610247	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0002136	Broad-based gait			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > BROAD-BASED GAIT	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSTONIA	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0002071	Abnormality of extrapyramidal motor function			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EXTRAPYRAMIDAL SIGNS	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0001256	Intellectual disability, mild			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0001300	Parkinsonism			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PARKINSONISM	OMIM:617384	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617384	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY	OMIM:617384	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300963	RITSCHER-SCHINZEL SYNDROME 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:300963	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:headandneckears > LARGE EARS	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0000286	Epicanthus			IEA	IEA						OMIM-CS:headandneckeyes > EPICANTHAL FOLDS	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0000648	Optic atrophy			IEA	IEA						OMIM-CS:headandneckeyes > OPTIC ATROPHY	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0000347	Micrognathia			IEA	IEA						OMIM-CS:headandneckface > MICROGNATHIA	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0000215	Thick upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > PROMINENT UPPER LIP	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614969	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614969	PONTOCEREBELLAR HYPOPLASIA, TYPE 7					HP:0001336	Myoclonus			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MYOCLONUS	OMIM:614969	HPO:skoehler	13.07.2017
....
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600373	CODAS SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:600373	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600373	CODAS SYNDROME					HP:0008081	Pes valgus			IEA	IEA						OMIM-CS:skeletalfeet > PES VALGUS	OMIM:600373	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616202	CEREBELLOFACIODENTAL SYNDROME					HP:0002213	Fine hair			IEA	IEA						OMIM-CS:skinnailshairhair > THIN HAIR	OMIM:616202	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0100704	Cortical visual impairment			IEA	IEA						OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT (IN 1 OF 2 PATIENTS)	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0200134	Epileptic encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0002521	Hypsarrhythmia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPSARRHYTHMIA	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0002376	Developmental regression			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR REGRESSION	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES	OMIM:617153	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617153	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN 1 OF 2 PATIENTS)	OMIM:617153	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616204	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:156810	MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION					HP:0025410	Splenogonadal fusion			IEA	IEA						OMIM-CS:abdomenspleen > SPLENOGONADAL FUSION	OMIM:156810	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616606	RING CHROMOSOME 14 SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616606	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600775	CRANIOSYNOSTOSIS 4					HP:0011326	Anterior plagiocephaly			IEA	IEA	rare					OMIM-CS:skeletalskull > CORONAL SYNOSTOSIS (IN SOME PATIENTS)	OMIM:600775	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617409	DIAMOND-BLACKFAN ANEMIA 17					HP:0001903	Anemia			IEA	IEA						OMIM-CS:hematology > ANEMIA	OMIM:617409	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617409	DIAMOND-BLACKFAN ANEMIA 17					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617409	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617409	DIAMOND-BLACKFAN ANEMIA 17					HP:0001000	Abnormality of skin pigmentation			IEA	IEA						OMIM-CS:skinnailshairskin > ABNORMAL PIGMENTATION	OMIM:617409	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616516	EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616516	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616516	EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:616516	HPO:skoehler	13.07.2017
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614437	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614437	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:309560	MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS					HP:0001337	Tremor			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TREMORS (IN HANDS)	OMIM:309560	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301590	MICROPHTHALMIA, SYNDROMIC 4					HP:0000528	Anophthalmia			IEA	IEA						OMIM-CS:headandneckeyes > ANOPHTHALMIA, CLINICAL	OMIM:301590	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301590	MICROPHTHALMIA, SYNDROMIC 4					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:301590	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0000028	Cryptorchidism			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > CRYPTORCHIDISM	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0000358	Posteriorly rotated ears			IEA	IEA						OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > THIN UPPER LIP	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > DEPRESSED NASAL ROOT	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENLARGED VENTRICLES	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOPLASIA OF THE CORPUS CALLOSUM	OMIM:612513	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612513	CHROMOSOME 2P16.1-P15 DELETION SYNDROME					HP:0012110	Hypoplasia of the pons			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOPLASIA OF THE PONS	OMIM:612513	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:129200	BASAN SYNDROME					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS	OMIM:129200	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601776	EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:601776	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0003236	Elevated serum creatine phosphokinase			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM CREATINE KINASE (FAMILY A)	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0002151	Increased serum lactate			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM LACTATE (FAMILY A)	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0002344	Progressive neurologic deterioration			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE NEURODEGENERATION	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0200134	Epileptic encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0002187	Intellectual disability, profound			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, PROFOUND	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0001250	Seizures			IEA	IEA						MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0002510	Spastic tetraplegia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTIC QUADRIPLEGIA	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0002133	Status epilepticus			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > STATUS EPILEPTICUS	OMIM:617389	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617389	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN 1 PATIENT)	OMIM:617389	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:263100	POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS					HP:0025492	Microcoria			IEA	IEA						OMIM-CS:eyes > MICROCORIA	OMIM:263100	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616622	IMMUNODEFICIENCY 42					HP:0000778	Hypoplasia of the thymus			IEA	IEA						OMIM-CS:immunology > SMALL THYMUS	OMIM:616622	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616622	IMMUNODEFICIENCY 42					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616622	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616622	IMMUNODEFICIENCY 42					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:616622	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616287	LETHAL CONGENITAL CONTRACTURE SYNDROME 8					HP:0200136	Oral-pharyngeal dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > DIFFICULTY SWALLOWING	OMIM:616287	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616287	LETHAL CONGENITAL CONTRACTURE SYNDROME 8					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOTONIA	OMIM:616287	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201810	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY					HP:0012411	Premature pubarche			IEA	IEA						OMIM-CS:endocrinefeatures > PREMATURE PUBARCHE	OMIM:201810	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201810	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY					HP:0000062	Ambiguous genitalia			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliafemale > AMBIGUOUS GENITALIA	OMIM:201810	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201810	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY					HP:0008707	Absent scrotum			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > ABSENT SCROTUM	OMIM:201810	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201810	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY					HP:0000062	Ambiguous genitalia			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > AMBIGUOUS GENITALIA	OMIM:201810	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201810	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY					HP:0000048	Bifid scrotum			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > BIFID SCROTUM	OMIM:201810	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201810	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY					HP:0000054	Micropenis			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > MICROPENIS	OMIM:201810	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201810	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:201810	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613834	MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME					HP:0030891	Periventricular white matter hyperdensities			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PERIVENTRICULAR WHITE MATTER HYPERINTENSITIES, BILATERAL	OMIM:613834	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0004322	Short stature			IEA	IEA	rare					OMIM-CS:growthheight > SHORT STATURE (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0001513	Obesity			IEA	IEA	rare					OMIM-CS:growthweight > OBESITY (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0000545	Myopia			IEA	IEA	rare					OMIM-CS:headandneckeyes > MYOPIA (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0000252	Microcephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0012448	Delayed myelination			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0001332	Dystonia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DYSTONIA (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPOPLASTIC CORPUS CALLOSUM (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0002540	Inability to walk			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0002123	Generalized myoclonic seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > MYOCLONIC SEIZURES (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0002827	Hip dislocation			IEA	IEA	rare					OMIM-CS:skeletalpelvis > HIP DISLOCATION (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0002808	Kyphosis			IEA	IEA	rare					OMIM-CS:skeletalspine > KYPHOSIS (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616756	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES					HP:0002650	Scoliosis			IEA	IEA	rare					OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS)	OMIM:616756	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606056	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:606056	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614482	CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614482	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613163	GABA-TRANSAMINASE DEFICIENCY					HP:0025430	High-pitched cry			IEA	IEA						OMIM-CS:voice > HIGH-PITCHED CRY	OMIM:613163	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:603896	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:603896	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300048	INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED					HP:0030889	Congenital shortened small intestine			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > SHORT BOWEL (IN SOME PATIENTS)	OMIM:300048	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300048	INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED					HP:0040309	Increased size of the mandible			IEA	IEA						OMIM-CS:headandneckface > LARGE JAW	OMIM:300048	HPO:skoehler	13.07.2017
........
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:110800	BLOOD GROUP, I SYSTEM					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:110800	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612281	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6					HP:0025092	Epidermal acanthosis			IEA	IEA						MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE	OMIM:612281	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE					HP:0002098	Respiratory distress			IEA	IEA						OMIM-CS:respiratory > SHORTNESS OF BREATH	OMIM:616414	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE					HP:0040223	Pulmonary hemorrhage			IEA	IEA						OMIM-CS:respiratorylung > PULMONARY HEMORRHAGE	OMIM:616414	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616875	CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:616875	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616875	CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616875	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616875	CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION					HP:0002059	Cerebral atrophy			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN SOME PATIENTS)	OMIM:616875	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616875	CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION					HP:0001332	Dystonia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DYSTONIA (IN SOME PATIENTS)	OMIM:616875	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616875	CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:616875	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616875	CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM	OMIM:616875	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600627	HYPERTRYPTOPHANEMIA, FAMILIAL					HP:0025268	Stuttering			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > STUTTERING, SEVERE (IN BROTHER)	OMIM:600627	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:201550	ADDUCTED THUMBS SYNDROME					HP:0002705	High, narrow palate			IEA	IEA						OMIM-CS:mouth > PALATE HIGH-ARCHED	OMIM:201550	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612164	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:612164	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:124900	DEAFNESS, AUTOSOMAL DOMINANT 1					HP:0001873	Thrombocytopenia			IEA	IEA	rare					OMIM-CS:hematology > THROMBOCYTOPENIA (IN SOME PATIENTS)	OMIM:124900	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612868	CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS					HP:0009918	Ectopia pupillae			IEA	IEA	rare					OMIM-CS:headandneckeyes > CORECTOPIA (IN SOME PATIENTS)	OMIM:612868	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612868	CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS					HP:0000612	Iris coloboma			IEA	IEA	rare					OMIM-CS:headandneckeyes > IRIS COLOBOMA (IN SOME PATIENTS)	OMIM:612868	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612868	CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS					HP:0003680	Nonprogressive			IEA	IEA						OMIM-CS:miscellaneous > NONPROGRESSIVE	OMIM:612868	HPO:skoehler	13.07.2017
.filter this Sun May 28 00:00:00 CEST 2017
OMIM:146510	PALLISTER-HALL SYNDROME					HP:0000086	Ectopic kidney			TAS	TAS	Occasional						OMIM:146510	HPO:probinson	2017-05-28
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:146510	PALLISTER-HALL SYNDROME					HP:0000086	Ectopic kidney			IEA	IEA						OMIM-CS:genitourinarykidneys > RENAL ECTOPIA	OMIM:146510	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614101	PLASMA FIBRONECTIN DEFICIENCY					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:614101	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9					HP:0001639	Hypertrophic cardiomyopathy			IEA	IEA						OMIM-CS:cardiovascularheart > HYPERTROPHIC CARDIOMYOPATHY	OMIM:613765	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616903	THIOPURINES, POOR METABOLISM OF, 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616903	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608931	MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:608931	HPO:skoehler	13.07.2017
.filter this Wed Jun 21 00:00:00 CEST 2017
OMIM:611913	CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB					HP:0001466	Contiguous gene syndrome			TAS	TAS							OMIM:611913	HPO:probinson	2017-06-21
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617270	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58					HP:0004322	Short stature			IEA	IEA	rare					OMIM-CS:growthheight > SHORT STATURE (1 PATIENT)	OMIM:617270	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617270	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:617270	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617270	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58					HP:0000718	Aggressive behavior			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AGGRESSIVE BEHAVIOR	OMIM:617270	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617270	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58					HP:0001266	Choreoathetosis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CHOREOATHETOSIS	OMIM:617270	HPO:skoehler	13.07.2017
...............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615593	IMMUNODEFICIENCY 16					HP:0003621	Juvenile onset			IEA	IEA						OMIM-CS:miscellaneous > JUVENILE ONSET	OMIM:615593	HPO:skoehler	13.07.2017
..............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617405	SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617405	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617405	SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617405	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617405	SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY					HP:0010442	Polydactyly			IEA	IEA	rare					OMIM-CS:skeletalfeet > POLYDACTYLY (IN SOME PATIENTS)	OMIM:617405	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617405	SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:617405	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617405	SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY					HP:0010442	Polydactyly			IEA	IEA	rare					OMIM-CS:skeletalhands > POLYDACTYLY (IN SOME PATIENTS)	OMIM:617405	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0002240	Hepatomegaly			IEA	IEA						OMIM-CS:abdomenliver > HEPATOMEGALY	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0001744	Splenomegaly			IEA	IEA						OMIM-CS:abdomenspleen > SPLENOMEGALY	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:headandneckears > LARGE EARS	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0000601	Hypotelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPOTELORISM	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0001107	Ocular albinism			IEA	IEA						OMIM-CS:headandneckeyes > OCULAR ALBINISM	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0000319	Smooth philtrum			IEA	IEA						OMIM-CS:headandneckface > FLAT PHILTRUM	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0000278	Retrognathia			IEA	IEA						OMIM-CS:headandneckface > RETROGNATHIA	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0002721	Immunodeficiency			IEA	IEA						OMIM-CS:immunology > IMMUNODEFICIENCY	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0001875	Neutropenia			IEA	IEA						OMIM-CS:immunology > NEUTROPENIA	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0002353	EEG abnormality			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ABNORMAL EEG	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSTONIA	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0002069	Generalized tonic-clonic seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GENERALIZED TONIC-CLONIC SEIZURES	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0002123	Generalized myoclonic seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MYOCLONIC SEIZURES	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0001250	Seizures			IEA	IEA						MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TRUNCAL HYPOTONIA	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0002205	Recurrent respiratory infections			IEA	IEA						OMIM-CS:respiratory > RECURRENT RESPIRATORY INFECTIONS	OMIM:617050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10					HP:0006530	Interstitial pulmonary abnormality			IEA	IEA						OMIM-CS:respiratorylung > INTERSTITIAL LUNG DISEASE	OMIM:617050	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14					HP:0009055	Generalized limb muscle atrophy			IEA	IEA						OMIM-CS:musclesofttissue > GENERALIZED MUSCLE WASTING	OMIM:615351	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615351	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611706	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12					HP:0002018	Nausea			IEA	IEA						OMIM-CS:abdomengastrointestinal > NAUSEA	OMIM:611706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611706	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12					HP:0002013	Vomiting			IEA	IEA						OMIM-CS:abdomengastrointestinal > VOMITING	OMIM:611706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611706	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12					HP:0002183	Phonophobia			IEA	IEA						OMIM-CS:headandneckears > PHONOPHOBIA	OMIM:611706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611706	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPHOBIA	OMIM:611706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611706	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:611706	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611706	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12					HP:0002315	Headache			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HEADACHE	OMIM:611706	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615873	HELSMOORTEL-VAN DER AA SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615873	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300908	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300908	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:101120	ACROCEPHALOPOLYSYNDACTYLY TYPE III					HP:0012368	Flat face			IEA	IEA						OMIM-CS:facies > FLAT FACIES	OMIM:101120	HPO:skoehler	13.07.2017
..
..filter this Wed Jun 21 00:00:00 CEST 2017
OMIM:612840	LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3					HP:0002240	Hepatomegaly			TAS	TAS							OMIM:612840	HPO:skoehler	2017-06-21
filter this Wed Jun 21 00:00:00 CEST 2017
OMIM:612840	LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3					HP:0003593	Infantile onset			TAS	TAS							OMIM:612840	HPO:skoehler	2017-06-21
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612840	LEUKOCYTE ADHESION DEFICIENCY, TYPE III					HP:0002240	Hepatomegaly			IEA	IEA						OMIM-CS:abdomenliver > HEPATOMEGALY	OMIM:612840	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612840	LEUKOCYTE ADHESION DEFICIENCY, TYPE III					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:612840	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609180	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF					HP:0003256	Abnormality of the coagulation cascade			IEA	IEA	rare					OMIM-CS:hematology > COAGULOPATHY, MILD (IN SOME PATIENTS)	OMIM:609180	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609180	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:609180	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606631	CAMURATI-ENGELMANN DISEASE, TYPE 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:606631	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604809	PANBRONCHIOLITIS, DIFFUSE					HP:0030828	Wheezing			IEA	IEA						OMIM-CS:respiratory > WHEEZING	OMIM:604809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604809	PANBRONCHIOLITIS, DIFFUSE					HP:0030830	Rales			IEA	IEA						OMIM-CS:respiratorylung > CRACKLES	OMIM:604809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604809	PANBRONCHIOLITIS, DIFFUSE					HP:0003651	Foam cells			IEA	IEA						OMIM-CS:respiratorylung > FOAMY MACROPHAGES	OMIM:604809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604809	PANBRONCHIOLITIS, DIFFUSE					HP:0030831	Rhonchi			IEA	IEA						OMIM-CS:respiratorylung > RHONCHI	OMIM:604809	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617383	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > DYSPHAGIA	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR FEEDING	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0100704	Cortical visual impairment			IEA	IEA						OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0000508	Ptosis			IEA	IEA						OMIM-CS:headandneckeyes > PTOSIS	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0002305	Athetosis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATHETOID MOVEMENTS	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0002072	Chorea			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CHOREIFORM MOVEMENTS	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0007281	Developmental stagnation			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL ARREST	OMIM:617235	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617235	MYOCLONUS, INTRACTABLE, NEONATAL					HP:0006980	Progressive leukoencephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LEUKOENCEPHALOPATHY, PROGRESSIVE	OMIM:617235	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615760	MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615760	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615760	MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:615760	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:251950	MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:251950	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612783	IMMUNODEFICIENCY 10					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:612783	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612783	IMMUNODEFICIENCY 10					HP:0002164	Nail dysplasia			IEA	IEA						OMIM-CS:skinnailshairnails > NAIL DYSPLASIA	OMIM:612783	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612783	IMMUNODEFICIENCY 10					HP:0000966	Hypohidrosis			IEA	IEA						OMIM-CS:skinnailshairskin > HYPOHIDROSIS	OMIM:612783	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0002019	Constipation			IEA	IEA						OMIM-CS:abdomengastrointestinal > CONSTIPATION	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0001508	Failure to thrive			IEA	IEA						OMIM-CS:growthother > FAILURE TO THRIVE	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0006855	Cerebellar vermis atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR VERMIS ATROPHY	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT, MILD	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0007371	Corpus callosum atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CORPUS CALLOSUM ATROPHY	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0001310	Dysmetria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSMETRIA	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSPHAGIA	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0002313	Spastic paraparesis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTIC PARAPARESIS	OMIM:614877	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614877	PEROXISOME BIOGENESIS DISORDER 8B					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (PARTICULARLY OF LOWER LIMBS)	OMIM:614877	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614744	FACIAL PARESIS, HEREDITARY CONGENITAL, 3					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS, SENSORINEURAL, MILD TO MODERATE	OMIM:614744	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614744	FACIAL PARESIS, HEREDITARY CONGENITAL, 3					HP:0025312	Esophoria			IEA	IEA	rare					OMIM-CS:headandneckeyes > ESOPHORIA (IN SOME PATIENTS)	OMIM:614744	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY					HP:0000496	Abnormality of eye movement			IEA	IEA						OMIM-CS:headandneckeyes > EYE MOVEMENT ABNORMALITIES	OMIM:610090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY, VARIABLE SEVERITY	OMIM:610090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY					HP:0001276	Hypertonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERTONIA	OMIM:610090	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY					HP:0002317	Unsteady gait			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > UNSTEADY GAIT	OMIM:610090	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616366	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD TO PROFOUND	OMIM:616366	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300957	MENTAL RETARDATION, X-LINKED 12					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:300957	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > SWALLOWING DIFFICULTIES	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0000648	Optic atrophy			IEA	IEA	rare					OMIM-CS:headandneckeyes > OPTIC ATROPHY (IN SOME PATIENTS)	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002058	Myopathic facies			IEA	IEA						OMIM-CS:headandneckface > MYOPATHIC FACIES	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0000278	Retrognathia			IEA	IEA						OMIM-CS:headandneckface > RETROGNATHIA	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0000252	Microcephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS)	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0000243	Trigonocephaly			IEA	IEA						OMIM-CS:headandneckhead > TRIGONOCEPHALY	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > UPTURNED NOSE	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN UTERO	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0001276	Hypertonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPERTONIA	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DILATED VENTRICLES	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0001298	Encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002267	Exaggerated startle response			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPEREKPLEXIA	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN SOME PATIENTS)	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002104	Apnea			IEA	IEA						MODIFIER:RECURRENT;OMIM-CS:respiratory > APNEA, RECURRENT	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002804	Arthrogryposis multiplex congenita			IEA	IEA						OMIM-CS:skeletal > ARTHROGRYPOSIS MULTIPLEX CONGENITA	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0001388	Joint laxity			IEA	IEA						OMIM-CS:skeletal > JOINT LAXITY	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > CLUB FEET	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0001760	Abnormality of the foot			IEA	IEA						OMIM-CS:skeletalfeet > FOOT DEFORMITIES	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002987	Elbow flexion contracture			IEA	IEA						OMIM-CS:skeletallimbs > ELBOW CONTRACTURES	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0003273	Hip contracture			IEA	IEA						OMIM-CS:skeletalpelvis > HIP CONTRACTURES	OMIM:617301	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617301	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE					HP:0002827	Hip dislocation			IEA	IEA						OMIM-CS:skeletalpelvis > HIP DISLOCATION	OMIM:617301	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608629	JOUBERT SYNDROME 3					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:608629	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616629	SENIOR-LOKEN SYNDROME 9					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616629	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:248500	MANNOSIDOSIS, ALPHA B, LYSOSOMAL					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN ADULTHOOD)	OMIM:248500	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:248500	MANNOSIDOSIS, ALPHA B, LYSOSOMAL					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION	OMIM:248500	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:248500	MANNOSIDOSIS, ALPHA B, LYSOSOMAL					HP:0002171	Gliosis			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GLIOSIS	OMIM:248500	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:248500	MANNOSIDOSIS, ALPHA B, LYSOSOMAL					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:248500	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:151050	LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:151050	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616685	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616685	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616685	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE	OMIM:616685	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608091	JOUBERT SYNDROME 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:608091	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:306955	HETEROTAXY, VISCERAL, 1, X-LINKED					HP:0011565	Common atrium			IEA	IEA						OMIM-CS:cardiovascularheart > SINGLE ATRIUM	OMIM:306955	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616739	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > SMALL HEAD CIRCUMFERENCE	OMIM:616739	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616739	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:616739	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616739	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51					HP:0001270	Motor delay			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS)	OMIM:616739	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616739	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51					HP:0010864	Intellectual disability, severe			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, SEVERE	OMIM:616739	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300942	CHROMOSOME XQ26.3 DUPLICATION SYNDROME					HP:0002591	Polyphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > INCREASED APPETITE	OMIM:300942	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300942	CHROMOSOME XQ26.3 DUPLICATION SYNDROME					HP:0001714	Ventricular hypertrophy			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR HYPERTROPHY, MILD (NOTED IN 1 PATIENT)	OMIM:300942	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300942	CHROMOSOME XQ26.3 DUPLICATION SYNDROME					HP:0010535	Sleep apnea			IEA	IEA						OMIM-CS:respiratorynasopharynx > SLEEP APNEA	OMIM:300942	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300942	CHROMOSOME XQ26.3 DUPLICATION SYNDROME					HP:0025267	Snoring			IEA	IEA						OMIM-CS:respiratorynasopharynx > SNORING	OMIM:300942	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300942	CHROMOSOME XQ26.3 DUPLICATION SYNDROME					HP:0000956	Acanthosis nigricans			IEA	IEA						OMIM-CS:skinnailshairskin > ACANTHOSIS NIGRICANS	OMIM:300942	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0011968	Feeding difficulties			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES (IN SOME PATIENTS)	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:headandneckears > LARGE EARS	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000664	Synophrys			IEA	IEA						OMIM-CS:headandneckeyes > SYNOPHRYS	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000574	Thick eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > THICK EYEBROWS	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000582	Upslanted palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000348	High forehead			IEA	IEA						OMIM-CS:headandneckface > HIGH FOREHEAD	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000347	Micrognathia			IEA	IEA						OMIM-CS:headandneckface > MICROGNATHIA	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY (IN MOST PATIENTS, UP TO -5.4 SD)	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0012471	Thick vermilion border			IEA	IEA						OMIM-CS:headandneckmouth > FULL LIPS	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH PALATE	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0003196	Short nose			IEA	IEA						OMIM-CS:headandnecknose > SHORT NOSE	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000678	Dental crowding			IEA	IEA						OMIM-CS:headandneckteeth > DENTAL CROWDING	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000668	Hypodontia			IEA	IEA						OMIM-CS:headandneckteeth > HYPODONTIA	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0002719	Recurrent infections			IEA	IEA	rare					OMIM-CS:immunology > RECURRENT INFECTIONS (IN SOME PATIENTS)	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE PHENOTYPE	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000718	Aggressive behavior			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AGGRESSIVE BEHAVIOR	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0007018	Attention deficit hyperactivity disorder			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > ATTENTION DEFICIT-HYPERACTIVITY DISORDER	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000722	Obsessive-compulsive behavior			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > OBSESSIVE-COMPULSIVE BEHAVIOR	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0001270	Motor delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT, MILD	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0002465	Poor speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (1 PATIENT)	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0004691	2-3 toe syndactyly			IEA	IEA						OMIM-CS:skeletalfeet > 2-3 TOE SYNDACTYLY	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0030084	Clinodactyly			IEA	IEA						OMIM-CS:skeletalhands > CLINODACTYLY	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0001182	Tapered finger			IEA	IEA						OMIM-CS:skeletalhands > TAPERING FINGERS	OMIM:617061	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617061	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44					HP:0002808	Kyphosis			IEA	IEA	rare					OMIM-CS:skeletalspine > KYPHOSIS (IN SOME PATIENTS)	OMIM:617061	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:129100	EARS, ABILITY TO MOVE					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:129100	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609965	DEAFNESS, AUTOSOMAL DOMINANT 53					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:609965	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0001397	Hepatic steatosis			IEA	IEA						OMIM-CS:abdomenliver > FATTY LIVER	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0001735	Acute pancreatitis			IEA	IEA						OMIM-CS:abdomenpancreas > ACUTE PANCREATITIS (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0001635	Congestive heart failure			IEA	IEA						OMIM-CS:cardiovascularheart > HEART FAILURE (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0001714	Ventricular hypertrophy			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR HYPERTROPHY (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0004953	Dilatation of abdominal aortic			IEA	IEA						OMIM-CS:cardiovascularvascular > ABDOMINAL AORTIC ANEURYSM (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0000822	Hypertension			IEA	IEA						OMIM-CS:cardiovascularvascular > HYPERTENSION (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0008232	Elevated follicle stimulating hormone			IEA	IEA						OMIM-CS:endocrinefeatures > ELEVATED FOLLICLE-STIMULATING HORMONE (FSH)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0011969	Elevated luteinizing hormone			IEA	IEA						OMIM-CS:endocrinefeatures > ELEVATED LUTEINIZING HORMONE (LH)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0000833	Glucose intolerance			IEA	IEA						OMIM-CS:endocrinefeatures > IMPAIRED GLUCOSE TOLERANCE	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0000541	Retinal detachment			IEA	IEA						OMIM-CS:headandneckeyes > RETINAL DETACHMENT, BILATERAL CONGENITAL (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0000308	Microretrognathia			IEA	IEA						OMIM-CS:headandneckface > MICRORETROGNATHIA	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0003076	Glycosuria			IEA	IEA						OMIM-CS:laboratoryabnormalities > GLYCOSURIA	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0010579	Cone-shaped epiphysis			IEA	IEA						OMIM-CS:skeletallimbs > CONE-SHAPED EPIPHYSES (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0003100	Slender long bone			IEA	IEA						OMIM-CS:skeletallimbs > GRACILE LONG BONES (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0003016	Metaphyseal widening			IEA	IEA						OMIM-CS:skeletallimbs > WIDENED METAPHYSES (PATIENT A)	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:skeletalskull > MICROCEPHALY	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0000956	Acanthosis nigricans			IEA	IEA						OMIM-CS:skinnailshairskin > ACANTHOSIS NIGRICANS	OMIM:617253	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617253	SECKEL SYNDROME 10					HP:0010609	Skin tags			IEA	IEA						OMIM-CS:skinnailshairskin > SKIN TAGS	OMIM:617253	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614230	CHROMOSOME 8Q21.11 DELETION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614230	HPO:skoehler	13.07.2017
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > DYSPHAGIA	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR FEEDING	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0002033	Poor suck			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR SUCKING	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR SWALLOWING	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0000597	Ophthalmoparesis			IEA	IEA						OMIM-CS:headandneckeyes > OPHTHALMOPARESIS	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0000508	Ptosis			IEA	IEA						OMIM-CS:headandneckeyes > PTOSIS	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0010628	Facial palsy			IEA	IEA						OMIM-CS:headandneckface > FACIAL WEAKNESS	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0000467	Neck muscle weakness			IEA	IEA						OMIM-CS:headandneckneck > NECK MUSCLE WEAKNESS	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0001283	Bulbar palsy			IEA	IEA						OMIM-CS:musclesofttissue > BULBAR MUSCLE WEAKNESS	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0001324	Muscle weakness			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE WEAKNESS	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0100543	Cognitive impairment			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT (IN SOME PATIENTS)	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0001561	Polyhydramnios			IEA	IEA	rare					OMIM-CS:prenatalmanifestationsamnioticfluid > HYDRAMNIOS (IN SOME PATIENTS)	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0010307	Stridor			IEA	IEA						OMIM-CS:respiratory > STRIDOR	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0002804	Arthrogryposis multiplex congenita			IEA	IEA	rare					OMIM-CS:skeletal > ARTHROGRYPOSIS (IN SOME PATIENTS)	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0002808	Kyphosis			IEA	IEA						OMIM-CS:skeletalspine > KYPHOSIS	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:617143	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617143	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC					HP:0001618	Dysphonia			IEA	IEA						OMIM-CS:voice > DYSPHONIA	OMIM:617143	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0000556	Retinal dystrophy			IEA	IEA	rare					OMIM-CS:headandneckeyes > RETINAL DYSTROPHY (1 PATIENT)	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0000252	Microcephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS)	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0000668	Hypodontia			IEA	IEA	rare					OMIM-CS:headandneckteeth > HYPODONTIA (1 PATIENT)	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0005528	Bone marrow hypocellularity			IEA	IEA						OMIM-CS:hematology > BONE MARROW FAILURE	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0001876	Pancytopenia			IEA	IEA						OMIM-CS:hematology > PANCYTOPENIA	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0004808	Acute myeloid leukemia			IEA	IEA	rare					OMIM-CS:neoplasia > ACUTE MYELOID LEUKEMIA (1 PATIENT)	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0001000	Abnormality of skin pigmentation			IEA	IEA						OMIM-CS:skinnailshairskin > ABNORMAL SKIN PIGMENTATION	OMIM:617052	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617052	BONE MARROW FAILURE SYNDROME 3					HP:0000962	Hyperkeratosis			IEA	IEA						OMIM-CS:skinnailshairskin > HYPERKERATOSIS	OMIM:617052	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:400004	RETINITIS PIGMENTOSA, Y-LINKED					HP:0000510	Rod-cone dystrophy			IEA	IEA						OMIM-CS:headandneckeyes > RETINITIS PIGMENTOSA	OMIM:400004	HPO:skoehler	13.07.2017
..
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607016	SCHEIE SYNDROME					HP:0000943	Dysostosis multiplex			IEA	IEA	rare					OMIM-CS:skeletal > DYSOSTOSIS MULTIPLEX, MILD (IN SOME PATIENTS)	OMIM:607016	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607016	SCHEIE SYNDROME					HP:0012185	Constrictive median neuropathy			IEA	IEA						OMIM-CS:skeletalhands > CARPAL TUNNEL SYNDROME	OMIM:607016	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:176690	PROGEROID SHORT STATURE WITH PIGMENTED NEVI					HP:0008209	Premature ovarian insufficiency			IEA	IEA						OMIM-CS:endocrinefeatures > PREMATURE MENOPAUSE	OMIM:176690	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615630	SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY					HP:0002119	Ventriculomegaly			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > VENTRICULOMEGALY, MILD (RARE)	OMIM:615630	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000540	Hypermetropia			IEA	IEA						OMIM-CS:headandneckeyes > HYPERMETROPIA	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000506	Telecanthus			IEA	IEA						OMIM-CS:headandneckeyes > TELECANTHUS	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000293	Full cheeks			IEA	IEA						OMIM-CS:headandneckface > FULL CHEEKS	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE HYPOPLASIA	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000348	High forehead			IEA	IEA						OMIM-CS:headandneckface > TALL FOREHEAD	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000268	Dolichocephaly			IEA	IEA						OMIM-CS:headandneckhead > DOLICHOCEPHALY	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000431	Wide nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > BROAD NASAL BRIDGE	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000670	Carious teeth			IEA	IEA						OMIM-CS:headandneckteeth > CARIOUS TEETH	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOPLASTIC CORPUS CALLOSUM	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0001270	Motor delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0002098	Respiratory distress			IEA	IEA						OMIM-CS:respiratorylung > RESPIRATORY DISTRESS	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalfeet > BRACHYDACTYLY	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0001852	Sandal gap			IEA	IEA						OMIM-CS:skeletalfeet > SANDAL GAP	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0010743	Short metatarsal			IEA	IEA						OMIM-CS:skeletalfeet > SHORT METATARSALS	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0009803	Short phalanx of finger			IEA	IEA						OMIM-CS:skeletalfeet > SHORT PHALANGES	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0010230	Cone-shaped epiphyses of the phalanges of the hand			IEA	IEA						OMIM-CS:skeletalhands > CONE-SHAPED EPIPHYSES OF PHALANGES	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0009882	Short distal phalanx of finger			IEA	IEA						OMIM-CS:skeletalhands > HYPOPLASTIC DISTAL PHALANGES	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0100259	Postaxial polydactyly			IEA	IEA	rare					OMIM-CS:skeletalhands > POSTAXIAL POLYDACTYLY (IN SOME PATIENTS)	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0010049	Short metacarpal			IEA	IEA						OMIM-CS:skeletalhands > SHORT METACARPALS	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0009826	Limb undergrowth			IEA	IEA						OMIM-CS:skeletallimbs > SHORT LIMBS	OMIM:617102	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617102	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY					HP:0003180	Flat acetabular roof			IEA	IEA						OMIM-CS:skeletalpelvis > FLAT ACETABULAR ROOF	OMIM:617102	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616449	BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616449	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615102	TYSHCHENKO SYNDROME					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > IUGR	OMIM:615102	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614500	CONE-ROD DYSTROPHY 16					HP:0000518	Cataract			IEA	IEA						OMIM-CS:headandneckeyes > CATARACTS	OMIM:614500	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:605021	MYOCLONIC EPILEPSY, FAMILIAL INFANTILE					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA, MILD (1 FAMILY)	OMIM:605021	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300114	MENTAL RETARDATION, X-LINKED 49					HP:0000486	Strabismus			IEA	IEA	rare					OMIM-CS:headandneckeyes > STRABISMUS (IN SOME PATIENTS)	OMIM:300114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300114	MENTAL RETARDATION, X-LINKED 49					HP:0000280	Coarse facial features			IEA	IEA						OMIM-CS:headandneckface > COARSE FACIAL FEATURES (1 FAMILY)	OMIM:300114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300114	MENTAL RETARDATION, X-LINKED 49					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300114	MENTAL RETARDATION, X-LINKED 49					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:300114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300114	MENTAL RETARDATION, X-LINKED 49					HP:0000708	Behavioral abnormality			IEA	IEA	rare					OMIM-CS:neurologicbehavioralpsychiatricmanifestations > BEHAVIORAL PROBLEMS (IN SOME PATIENTS)	OMIM:300114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300114	MENTAL RETARDATION, X-LINKED 49					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:300114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300114	MENTAL RETARDATION, X-LINKED 49					HP:0002650	Scoliosis			IEA	IEA	rare					OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS)	OMIM:300114	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614325	PITT-HOPKINS-LIKE SYNDROME 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614325	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613458	CHROMOSOME 16P13.3 DUPLICATION SYNDROME					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY, MILD TO MODERATE	OMIM:613458	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259050	PRIMROSE SYNDROME					HP:0000851	Congenital hypothyroidism			IEA	IEA	rare					OMIM-CS:endocrinefeatures > CONGENITAL HYPOTHYROIDISM (IN SOME PATIENTS)	OMIM:259050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259050	PRIMROSE SYNDROME					HP:0000815	Hypergonadotropic hypogonadism			IEA	IEA	rare					OMIM-CS:endocrinefeatures > HYPERGONADOTROPIC HYPOGONADISM (RARE)	OMIM:259050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259050	PRIMROSE SYNDROME					HP:0040309	Increased size of the mandible			IEA	IEA						OMIM-CS:headandneckface > LARGE JAW	OMIM:259050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259050	PRIMROSE SYNDROME					HP:0002714	Downturned corners of mouth			IEA	IEA						OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF MOUTH	OMIM:259050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259050	PRIMROSE SYNDROME					HP:0000160	Narrow mouth			IEA	IEA						OMIM-CS:headandneckmouth > SMALL MOUTH	OMIM:259050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259050	PRIMROSE SYNDROME					HP:0000711	Restlessness			IEA	IEA	rare					OMIM-CS:neurologicbehavioralpsychiatricmanifestations > RESTLESSNESS (RARE)	OMIM:259050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259050	PRIMROSE SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:259050	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259050	PRIMROSE SYNDROME					HP:0002209	Sparse scalp hair			IEA	IEA						OMIM-CS:skinnailshairhair > SPARSE SCALP HAIR	OMIM:259050	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614350	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE	OMIM:614350	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614035	DEAFNESS, AUTOSOMAL RECESSIVE 29					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:headandneckears > SENSORINEURAL HEARING LOSS, SEVERE TO PROFOUND	OMIM:614035	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:249620	OHDO SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:249620	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:194350	WT LIMB-BLOOD SYNDROME					HP:0040012	Chromosome breakage			IEA	IEA				NOT	NOT	OMIM-CS:laboratoryabnormalities > NO CHROMOSOME BREAKAGE	OMIM:194350	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300803	MENTAL RETARDATION, X-LINKED 97					HP:0002342	Intellectual disability, moderate			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MODERATE	OMIM:300803	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:156610	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1					HP:0000767	Pectus excavatum			IEA	IEA	rare					OMIM-CS:chestexternalfeatures > PECTUS EXCAVATUM, MILD (RARE)	OMIM:156610	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:156610	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA, MILD (RARE)	OMIM:156610	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:156610	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD TO PROFOUND	OMIM:156610	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613255	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15					HP:0001635	Congestive heart failure			IEA	IEA						OMIM-CS:cardiovascularheart > CONGESTIVE HEART FAILURE	OMIM:613255	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613255	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15					HP:0006685	Endocardial fibrosis			IEA	IEA						OMIM-CS:cardiovascularheart > ENDOCARDIAL FIBROSIS	OMIM:613255	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613255	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:613255	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609128	ARTHROGRYPOSIS, DISTAL, TYPE 4					HP:0000473	Torticollis			IEA	IEA						OMIM-CS:headandneckneck > TORTICOLLIS	OMIM:609128	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609128	ARTHROGRYPOSIS, DISTAL, TYPE 4					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > LOW NASAL BRIDGE	OMIM:609128	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609128	ARTHROGRYPOSIS, DISTAL, TYPE 4					HP:0000267	Cranial asymmetry			IEA	IEA						OMIM-CS:skeletalskull > CRANIAL ASYMMETRY	OMIM:609128	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609128	ARTHROGRYPOSIS, DISTAL, TYPE 4					HP:0004626	Lumbar scoliosis			IEA	IEA						OMIM-CS:skeletalspine > LUMBAR SCOLIOSIS	OMIM:609128	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609128	ARTHROGRYPOSIS, DISTAL, TYPE 4					HP:0002162	Low posterior hairline			IEA	IEA						OMIM-CS:skinnailshairhair > LOW POSTERIOR HAIRLINE	OMIM:609128	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615546	VAN MALDERGEM SYNDROME 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615546	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613509	CHROMOSOME 4Q21 DELETION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:613509	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616657	SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY					HP:0000253	Progressive microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, POSTNATAL, PROGRESSIVE (UP TO -4SD)	OMIM:616657	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616657	SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616657	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616657	SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:616657	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616657	SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616657	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:200950	ACID PHOSPHATASE DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neuro > HYPOTONIA	OMIM:200950	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614487	SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE					HP:0100543	Cognitive impairment			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT, MILD (IN SOME PATIENTS)	OMIM:614487	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0001629	Ventricular septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0004971	Pulmonary artery hypoplasia			IEA	IEA	rare					OMIM-CS:cardiovascularvascular > PULMONARY ARTERY HYPOPLASIA, SEVERE (IN SOME PATIENTS)	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0000776	Congenital diaphragmatic hernia			IEA	IEA						OMIM-CS:chestdiaphragm > DIAPHRAGMATIC HERNIA	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0008665	Clitoral hypertrophy			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliafemale > CLITORAL HYPERTROPHY	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0000062	Ambiguous genitalia			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > AMBIGUOUS GENITALIA	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0000010	Recurrent urinary tract infections			IEA	IEA						OMIM-CS:genitourinarykidneys > RECURRENT URINARY TRACT INFECTIONS	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0001518	Small for gestational age			IEA	IEA						OMIM-CS:growthweight > LOW BIRTH WEIGHT	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0000444	Convex nasal ridge			IEA	IEA						OMIM-CS:headandnecknose > BEAKED NOSE	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0001561	Polyhydramnios			IEA	IEA						OMIM-CS:prenatalmanifestationsamnioticfluid > POLYHYDRAMNIOS	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0001558	Decreased fetal movement			IEA	IEA						OMIM-CS:prenatalmanifestationsmovement > DECREASED FETAL MOVEMENTS	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0002099	Asthma			IEA	IEA	rare					OMIM-CS:respiratorylung > ASTHMA (RARE)	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > CLUB FEET	OMIM:616777	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616777	SECKEL SYNDROME 9					HP:0000998	Hypertrichosis			IEA	IEA						OMIM-CS:skinnailshairhair > HYPERTRICHOSIS	OMIM:616777	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608220	SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE					HP:0030833	Neck pain			IEA	IEA						OMIM-CS:headandneckneck > NECK PAIN	OMIM:608220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608220	SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:608220	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616534	THYROID CANCER, NONMEDULLARY, 4					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616534	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616534	THYROID CANCER, NONMEDULLARY, 4					HP:0040198	Non-medullary thyroid carcinoma			IEA	IEA						OMIM-CS:neoplasia > NONMEDULLARY THYROID CARCINOMA (PAPILLARY, FOLLICULAR, OR TALL CELL VARIANTS)	OMIM:616534	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:241760	HYPOSPADIAS-MENTAL RETARDATION SYNDROME					HP:0030817	Beaked nails			IEA	IEA						OMIM-CS:nails > BEAKED NAILS	OMIM:241760	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615228	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4					HP:0001321	Cerebellar hypoplasia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SMALL CEREBELLUM	OMIM:615228	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615228	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4					HP:0025430	High-pitched cry			IEA	IEA						OMIM-CS:voice > HIGH-PITCHED CRY	OMIM:615228	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:302060	BARTH SYNDROME					HP:0001992	Organic aciduria			IEA	IEA	rare					OMIM-CS:laboratoryabnormalities > ORGANIC ACIDURIA, MILD (IN SOME PATIENTS)	OMIM:302060	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615028	EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MILD	OMIM:615028	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0002240	Hepatomegaly			IEA	IEA						OMIM-CS:abdomenliver > HEPATOMEGALY (IN 1 PATIENT)	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0001744	Splenomegaly			IEA	IEA						OMIM-CS:abdomenspleen > SPLENOMEGALY (IN 1 PATIENT)	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0006695	Atrioventricular canal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIOVENTRICULAR SEPTAL DEFECT (IN 1 PATIENT)	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0000888	Horizontal ribs			IEA	IEA						OMIM-CS:chestribssternumclaviclesandscapulae > HORIZONTAL RIBS	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0000773	Short ribs			IEA	IEA						OMIM-CS:chestribssternumclaviclesandscapulae > SHORT RIBS	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0000286	Epicanthus			IEA	IEA						OMIM-CS:headandneckeyes > EPICANTHAL FOLDS	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0001561	Polyhydramnios			IEA	IEA						OMIM-CS:prenatalmanifestationsamnioticfluid > POLYHYDRAMNIOS	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0001162	Postaxial hand polydactyly			IEA	IEA						OMIM-CS:skeletalfeet > POLYDACTYLY, POSTAXIAL	OMIM:617088	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617088	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY					HP:0001162	Postaxial hand polydactyly			IEA	IEA						OMIM-CS:skeletalhands > POLYDACTYLY, POSTAXIAL	OMIM:617088	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616819	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:616819	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616819	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA					HP:0000358	Posteriorly rotated ears			IEA	IEA						OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS	OMIM:616819	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616819	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATAXIA	OMIM:616819	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616819	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA					HP:0001321	Cerebellar hypoplasia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA	OMIM:616819	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616819	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE	OMIM:616819	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616819	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION	OMIM:616819	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:275100	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:275100	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:237100	HYMEN, IMPERFORATE					HP:0030711	Hydrocolpos			IEA	IEA						OMIM-CS:gu > HYDROCOLPOS	OMIM:237100	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615510	ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS)	OMIM:615510	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613943	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS	OMIM:613943	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613943	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8					HP:0025114	Hypergranulosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > HYPERGRANULOSIS	OMIM:613943	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617068	PORTAL HYPERTENSION, NONCIRRHOTIC					HP:0002240	Hepatomegaly			IEA	IEA						OMIM-CS:abdomenliver > HEPATOMEGALY	OMIM:617068	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617068	PORTAL HYPERTENSION, NONCIRRHOTIC					HP:0001409	Portal hypertension			IEA	IEA						OMIM-CS:abdomenliver > PORTAL HYPERTENSION	OMIM:617068	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617068	PORTAL HYPERTENSION, NONCIRRHOTIC					HP:0001744	Splenomegaly			IEA	IEA						OMIM-CS:abdomenspleen > SPLENOMEGALY	OMIM:617068	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617068	PORTAL HYPERTENSION, NONCIRRHOTIC					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617068	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617068	PORTAL HYPERTENSION, NONCIRRHOTIC					HP:0002910	Elevated hepatic transaminases			IEA	IEA				NOT	NOT	OMIM-CS:laboratoryabnormalities > NORMAL LIVER ENZYMES	OMIM:617068	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:500002	MITOCHONDRIAL MYOPATHY WITH DIABETES					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:500002	HPO:skoehler	13.07.2017
..
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604314	BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:604314	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616541	SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION					HP:0001956	Truncal obesity			IEA	IEA	rare					OMIM-CS:growthother > TRUNCAL OBESITY, MILD (IN SOME PATIENTS)	OMIM:616541	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616541	SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616541	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259780	OTOONYCHOPERONEAL SYNDROME					HP:0006587	Straight clavicles			IEA	IEA	rare					OMIM-CS:chestribssternumclaviclesandscapulae > STRAIGHT CLAVICLES (IN SOME PATIENTS)	OMIM:259780	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259780	OTOONYCHOPERONEAL SYNDROME					HP:0000047	Hypospadias			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > HYPOSPADIAS (IN 1 PATIENT)	OMIM:259780	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259780	OTOONYCHOPERONEAL SYNDROME					HP:0000400	Macrotia			IEA	IEA						OMIM-CS:headandneckears > LARGE EARS	OMIM:259780	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259780	OTOONYCHOPERONEAL SYNDROME					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:259780	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259780	OTOONYCHOPERONEAL SYNDROME					HP:0000358	Posteriorly rotated ears			IEA	IEA						OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS	OMIM:259780	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259780	OTOONYCHOPERONEAL SYNDROME					HP:0011247	Prominent superior crus of antihelix			IEA	IEA						OMIM-CS:headandneckears > PROMINENT SUPERIOR CRUS OF ANTIHELIX	OMIM:259780	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259780	OTOONYCHOPERONEAL SYNDROME					HP:0000268	Dolichocephaly			IEA	IEA						OMIM-CS:skeletalskull > DOLICHOCEPHALY	OMIM:259780	HPO:skoehler	13.07.2017
............filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611451	DEAFNESS, AUTOSOMAL RECESSIVE 63					HP:0000512	Abnormal electroretinogram			IEA	IEA				NOT	NOT	OMIM-CS:headandneckeyes > NORMAL ELECTRORETINOGRAM	OMIM:611451	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611451	DEAFNESS, AUTOSOMAL RECESSIVE 63					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > CONGENITAL ONSET	OMIM:611451	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:115150	CARDIOFACIOCUTANEOUS SYNDROME 1					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:115150	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614303	EDICT SYNDROME					HP:0000563	Keratoconus			IEA	IEA	rare					OMIM-CS:headandneckeyes > KERATOCONUS, SEVERE ANTERIOR (IN SOME PATIENTS)	OMIM:614303	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254400	MYCOSIS FUNGOIDES					HP:0003765	Psoriasiform dermatitis			IEA	IEA						OMIM-CS:skin > PSORIASIFORM DERMATITIS	OMIM:254400	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612313	GLASS SYNDROME					HP:0000460	Narrow nose			IEA	IEA						OMIM-CS:headandnecknose > THIN NOSE	OMIM:612313	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0000817	Poor eye contact			IEA	IEA						OMIM-CS:headandneckeyes > POOR EYE CONTACT	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0000510	Rod-cone dystrophy			IEA	IEA						OMIM-CS:headandneckeyes > RETINITIS PIGMENTOSA (IN 1 FAMILY)	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0000252	Microcephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS)	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0001272	Cerebellar atrophy			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY (IN SOME PATIENTS)	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0002059	Cerebral atrophy			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN SOME PATIENTS)	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE TO PROFOUND	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0100660	Dyskinesia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSKINESIAS	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0200134	Epileptic encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0002521	Hypsarrhythmia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPSARRHYTHMIA (IN SOME PATIENTS)	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0001344	Absent speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LACK OF SPEECH	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0001250	Seizures			IEA	IEA						MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0002133	Status epilepticus			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > STATUS EPILEPTICUS (IN SOME PATIENTS)	OMIM:617276	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN SOME PATIENTS)	OMIM:617276	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617047	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26					HP:0005110	Atrial fibrillation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > ATRIAL FIBRILLATION (IN SOME PATIENTS)	OMIM:617047	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617047	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26					HP:0001635	Congestive heart failure			IEA	IEA						OMIM-CS:cardiovascularheart > HEART FAILURE	OMIM:617047	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617047	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26					HP:0001653	Mitral regurgitation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > MITRAL REGURGITATION (IN SOME PATIENTS)	OMIM:617047	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617047	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617047	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617047	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26					HP:0002094	Dyspnea			IEA	IEA						OMIM-CS:respiratorylung > DYSPNEA	OMIM:617047	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0002583	Colitis			IEA	IEA						OMIM-CS:abdomengastrointestinal > COLITIS	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0002014	Diarrhea			IEA	IEA						OMIM-CS:abdomengastrointestinal > DIARRHEA	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0000559	Corneal scarring			IEA	IEA						OMIM-CS:headandneckeyes > CORNEAL SCARRING	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0011229	Broad eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > FLARED EYEBROWS	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPHOBIA	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0000505	Visual impairment			IEA	IEA						OMIM-CS:headandneckeyes > POOR VISION	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0001249	Intellectual disability			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (IN SOME PATIENTS)	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0000962	Hyperkeratosis			IEA	IEA						OMIM-CS:skinnailshairskin > HYPERKERATOSIS	OMIM:301220	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED					HP:0000966	Hypohidrosis			IEA	IEA						OMIM-CS:skinnailshairskin > HYPOHIDROSIS	OMIM:301220	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615352	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:615352	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615352	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615352	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615352	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14					HP:0001270	Motor delay			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS)	OMIM:615352	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616462	ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE HYPOPLASIA, MILD TO SEVERE	OMIM:616462	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:130950	ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, MILD	OMIM:130950	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:225740	ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neuro > HYPOTONIA	OMIM:225740	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136300	FLYNN-AIRD SYNDROME					HP:0009830	Peripheral neuropathy			IEA	IEA						OMIM-CS:neuro > PERIPHERAL NEURITIS	OMIM:136300	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0002015	Dysphagia			IEA	IEA						OMIM-CS:abdomengastrointestinal > DYSPHAGIA	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0012179	Craniofacial dystonia			IEA	IEA						OMIM-CS:headandneckface > FACIAL DYSTONIA	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0002307	Drooling			IEA	IEA						OMIM-CS:headandneckmouth > DROOLING	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0003781	Excessive salivation			IEA	IEA						OMIM-CS:headandneckmouth > HYPERSALIVATION	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0001276	Hypertonia			IEA	IEA						OMIM-CS:musclesofttissue > INCREASED MUSCLE TONE	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0002376	Developmental regression			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL REGRESSION	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0001332	Dystonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSTONIA	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0002317	Unsteady gait			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GAIT INSTABILITY	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0001347	Hyperreflexia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0006957	Loss of ability to walk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LOSS OF ABILITY TO WALK	OMIM:617054	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617054	STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DIFFICULTIES	OMIM:617054	HPO:skoehler	13.07.2017
..........filter this Wed Sep 20 00:00:00 CEST 2017
OMIM:242850	IMMUNE DEFICIENCY DISEASE					HP:0005374	Cellular immunodeficiency			TAS	TAS							OMIM:242850	HPO:probinson	2017-09-20
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601358	NICOLAIDES-BARAITSER SYNDROME					HP:0002223	Absent eyebrow			IEA	IEA						OMIM-CS:skinnailshairhair > LOSS OF EYEBROWS	OMIM:601358	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:142680	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT					HP:0030953	Conjunctival hyperemia			IEA	IEA						OMIM-CS:headandneckeyes > CONJUNCTIVAL INJECTION	OMIM:142680	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300911	PARKINSONISM WITH SPASTICITY, X-LINKED					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300911	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617121	JOUBERT SYNDROME 28					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617121	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617121	JOUBERT SYNDROME 28					HP:0000657	Oculomotor apraxia			IEA	IEA						OMIM-CS:headandneckeyes > OCULOMOTOR APRAXIA	OMIM:617121	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617121	JOUBERT SYNDROME 28					HP:0000488	Retinopathy			IEA	IEA	rare					OMIM-CS:headandneckeyes > RETINOPATHY (1 PATIENT)	OMIM:617121	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617121	JOUBERT SYNDROME 28					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617121	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617121	JOUBERT SYNDROME 28					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617121	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617121	JOUBERT SYNDROME 28					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA	OMIM:617121	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617121	JOUBERT SYNDROME 28					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT	OMIM:617121	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617121	JOUBERT SYNDROME 28					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (IN 1 PATIENT)	OMIM:617121	HPO:skoehler	13.07.2017
.
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615084	MITOCHONDRIAL DNA DEPLETION SYNDROME 11					HP:0002093	Respiratory insufficiency			IEA	IEA						OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY, SEVERE, DUE TO MUSCLE WEAKNESS	OMIM:615084	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:277440	VITAMIN D-DEPENDENT RICKETS, TYPE 2A					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:277440	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300518	MENTAL RETARDATION, X-LINKED 82					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300518	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300518	MENTAL RETARDATION, X-LINKED 82					HP:0000729	Autistic behavior			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AUTISTIC BEHAVIOR (PATIENT A)	OMIM:300518	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300518	MENTAL RETARDATION, X-LINKED 82					HP:0002353	EEG abnormality			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ABNORMAL EEG (PATIENT B)	OMIM:300518	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300518	MENTAL RETARDATION, X-LINKED 82					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD TO PROFOUND	OMIM:300518	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300518	MENTAL RETARDATION, X-LINKED 82					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES (PATIENT A)	OMIM:300518	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300518	MENTAL RETARDATION, X-LINKED 82					HP:0002808	Kyphosis			IEA	IEA						OMIM-CS:skeletalspine > KYPHOSIS	OMIM:300518	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300518	MENTAL RETARDATION, X-LINKED 82					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:300518	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617460	RETINITIS PIGMENTOSA 79					HP:0007663	Reduced visual acuity			IEA	IEA						OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY (IN OLDER PATIENTS)	OMIM:617460	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617460	RETINITIS PIGMENTOSA 79					HP:0007401	Macular atrophy			IEA	IEA						OMIM-CS:headandneckeyes > MACULAR ATROPHY	OMIM:617460	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617460	RETINITIS PIGMENTOSA 79					HP:0000662	Nyctalopia			IEA	IEA						OMIM-CS:headandneckeyes > NYCTALOPIA	OMIM:617460	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617460	RETINITIS PIGMENTOSA 79					HP:0000543	Optic disc pallor			IEA	IEA						OMIM-CS:headandneckeyes > OPTIC DISC PALLOR	OMIM:617460	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617460	RETINITIS PIGMENTOSA 79					HP:0000613	Photophobia			IEA	IEA						OMIM-CS:headandneckeyes > PHOTOPHOBIA (IN OLDER PATIENTS)	OMIM:617460	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617460	RETINITIS PIGMENTOSA 79					HP:0001133	Constriction of peripheral visual field			IEA	IEA						OMIM-CS:headandneckeyes > REDUCED VISUAL FIELDS	OMIM:617460	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617460	RETINITIS PIGMENTOSA 79					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617460	HPO:skoehler	13.07.2017
.filter this Sun Sep 17 00:00:00 CEST 2017
OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE					HP:0100658	Cellulitis			TAS	TAS						Due to immunodeficiency	OMIM:233690	HPO:probinson	2017-09-17
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:228100	VISCERAL STEATOSIS, CONGENITAL					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neuro > HYPOTONIA	OMIM:228100	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615368	LETHAL CONGENITAL CONTRACTURE SYNDROME 5					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615368	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615368	LETHAL CONGENITAL CONTRACTURE SYNDROME 5					HP:0000762	Decreased nerve conduction velocity			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > DECREASED NERVE CONDUCTION VELOCITIES	OMIM:615368	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616728	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES					HP:0002558	Supernumerary nipple			IEA	IEA	rare					OMIM-CS:chestbreasts > SUPERNUMERARY NIPPLE (IN SOME PATIENTS)	OMIM:616728	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616728	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES					HP:0002553	Highly arched eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > ARCHED EYEBROWS	OMIM:616728	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616728	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES					HP:0000664	Synophrys			IEA	IEA	rare					OMIM-CS:headandneckeyes > SYNOPHRYS (IN SOME PATIENTS)	OMIM:616728	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616728	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES					HP:0002007	Frontal bossing			IEA	IEA						OMIM-CS:headandneckface > FRONTAL BOSSING	OMIM:616728	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616728	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:616728	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616728	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES					HP:0001270	Motor delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY (SITTING AND WALKING MILESTONES DELAYED)	OMIM:616728	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616728	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES					HP:0009778	Short thumb			IEA	IEA						OMIM-CS:skeletalhands > SHORT THUMBS	OMIM:616728	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616728	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES					HP:0001182	Tapered finger			IEA	IEA						OMIM-CS:skeletalhands > TAPERED FINGERS	OMIM:616728	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612731	FACIOCARDIOMELIC SYNDROME					HP:0011565	Common atrium			IEA	IEA						OMIM-CS:cardiovascularheart > SINGLE ATRIUM	OMIM:612731	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612731	FACIOCARDIOMELIC SYNDROME					HP:0430028	Hyperplasia of the maxilla			IEA	IEA						OMIM-CS:headandneckmouth > PROMINENT MAXILLA	OMIM:612731	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:606451	DEAFNESS, AUTOSOMAL DOMINANT 30					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:606451	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:210550	BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neuro > HYPOTONIA	OMIM:210550	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616707	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600001	HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES					HP:0004415	Pulmonary artery stenosis			IEA	IEA						OMIM-CS:cardiovascularvascular > PULMONARY ARTERY STENOSIS, BILATERAL BRANCH	OMIM:600001	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10					HP:0001670	Asymmetric septal hypertrophy			IEA	IEA						OMIM-CS:cardiovascularheart > ASYMMETRIC SEPTAL HYPERTROPHY	OMIM:608758	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10					HP:0100749	Chest pain			IEA	IEA						OMIM-CS:cardiovascularheart > CHEST PAIN	OMIM:608758	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10					HP:0001962	Palpitations			IEA	IEA						OMIM-CS:cardiovascularheart > PALPITATIONS	OMIM:608758	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10					HP:0001645	Sudden cardiac death			IEA	IEA	rare					OMIM-CS:cardiovascularheart > SUDDEN CARDIAC DEATH (IN SOME PATIENTS)	OMIM:608758	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10					HP:0004755	Supraventricular tachycardia			IEA	IEA	rare					OMIM-CS:cardiovascularheart > SUPRAVENTRICULAR TACHYCARDIA (IN SOME PATIENTS)	OMIM:608758	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10					HP:0001663	Ventricular fibrillation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > VENTRICULAR FIBRILLATION (IN SOME PATIENTS)	OMIM:608758	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10					HP:0002321	Vertigo			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DIZZINESS	OMIM:608758	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10					HP:0002094	Dyspnea			IEA	IEA						OMIM-CS:respiratory > DYSPNEA	OMIM:608758	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616546	SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:616546	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:182150	SIMOSA CRANIOFACIAL SYNDROME					HP:0012368	Flat face			IEA	IEA						OMIM-CS:headandneckface > FLAT FACIES	OMIM:182150	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614559	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:254780	MYOCLONIC EPILEPSY OF LAFORA					HP:0025121	Simple partial occipital seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SIMPLE PARTIAL OCCIPITAL SEIZURES	OMIM:254780	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0030680	Abnormality of cardiovascular system morphology			IEA	IEA						OMIM-CS:cardiovascularheart > CONGENITAL HEART DEFECTS	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0004322	Short stature			IEA	IEA	rare					OMIM-CS:growthheight > SHORT STATURE (IN SOME PATIENTS)	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000377	Abnormality of the pinna			IEA	IEA						OMIM-CS:headandneckears > MALFORMED EARS	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000574	Thick eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > THICK EYEBROWS	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000505	Visual impairment			IEA	IEA						OMIM-CS:headandneckeyes > VISUAL IMPAIRMENT	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000158	Macroglossia			IEA	IEA						OMIM-CS:headandneckmouth > MACROGLOSSIA	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > ANTEVERTED NOSTRILS	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000445	Wide nose			IEA	IEA						OMIM-CS:headandnecknose > BROAD NOSE	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > FLAT NASAL BRIDGE	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS)	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0002750	Delayed skeletal maturation			IEA	IEA						OMIM-CS:skeletal > DELAYED BONE AGE	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand			IEA	IEA						OMIM-CS:skeletalfeet > HYPOPLASTIC TO ABSENT TERMINAL PHALANGES (ESPECIALLY FIFTH TOE)	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand			IEA	IEA						OMIM-CS:skeletalhands > HYPOPLASTIC TO ABSENT TERMINAL PHALANGES (ESPECIALLY FIFTH FINGER)	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000998	Hypertrichosis			IEA	IEA						OMIM-CS:skinnailshairhair > HYPERTRICHOSIS	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0000294	Low anterior hairline			IEA	IEA						OMIM-CS:skinnailshairhair > LOW FRONTAL HAIRLINE	OMIM:614607	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614607	COFFIN-SIRIS SYNDROME 2					HP:0001792	Small nail			IEA	IEA						OMIM-CS:skinnailshairnails > HYPOPLASTIC NAILS	OMIM:614607	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609273	NEMALINE MYOPATHY 6					HP:0003546	Exercise intolerance			IEA	IEA						OMIM-CS:musclesofttissue > POOR EXERCISE TOLERANCE	OMIM:609273	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:313420	SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED					HP:0001423	X-linked dominant inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED DOMINANT	OMIM:313420	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:313420	SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED					HP:0011342	Mild global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR RETARDATION, MILD	OMIM:313420	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0001537	Umbilical hernia			IEA	IEA	rare					OMIM-CS:abdomenexternalfeatures > UMBILICAL HERNIA (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0002036	Hiatus hernia			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > HIATAL HERNIA (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0001395	Hepatic fibrosis			IEA	IEA						OMIM-CS:abdomenliver > HEPATIC FIBROSIS	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0002240	Hepatomegaly			IEA	IEA						OMIM-CS:abdomenliver > HEPATOMEGALY	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0001409	Portal hypertension			IEA	IEA						OMIM-CS:abdomenliver > PORTAL HYPERTENSION	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0001737	Pancreatic cysts			IEA	IEA	rare					OMIM-CS:abdomenpancreas > PANCREATIC CYSTS (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0002594	Pancreatic hypoplasia			IEA	IEA	rare					OMIM-CS:abdomenpancreas > PANCREATIC HYPOPLASIA (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0030423	Splenic cyst			IEA	IEA	rare					OMIM-CS:abdomenspleen > SPLENIC CYST (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0001744	Splenomegaly			IEA	IEA	rare					OMIM-CS:abdomenspleen > SPLENOMEGALY (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0001409	Portal hypertension			IEA	IEA	rare					OMIM-CS:cardiovascularvascular > PORTAL HYPERTENSION (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000113	Polycystic kidney dysplasia			IEA	IEA						OMIM-CS:genitourinarykidneys > POLYCYSTIC KIDNEYS	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000407	Sensorineural hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > SENSORINEURAL DEAFNESS, BILATERAL (IN SOME PATIENTS)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000557	Buphthalmos			IEA	IEA	rare					OMIM-CS:headandneckeyes > BUPHTHALMOS (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000286	Epicanthus			IEA	IEA						OMIM-CS:headandneckeyes > EPICANTHAL FOLDS	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000343	Long philtrum			IEA	IEA						OMIM-CS:headandneckface > LONG PHILTRUM	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > THIN UPPER LIP	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000453	Choanal atresia			IEA	IEA	rare					OMIM-CS:headandnecknose > CHOANAL ATRESIA (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > FLAT NASAL BRIDGE	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0002719	Recurrent infections			IEA	IEA	rare					OMIM-CS:immunology > SUSCEPTIBILITY TO INFECTION (IN SOME PATIENTS)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE PHENOTYPE	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000938	Osteopenia			IEA	IEA	rare					OMIM-CS:skeletal > OSTEOPENIA (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0000260	Wide anterior fontanel			IEA	IEA	rare					OMIM-CS:skeletalskull > LARGE ANTERIOR FONTANEL (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0004442	Sagittal craniosynostosis			IEA	IEA	rare					OMIM-CS:skeletalskull > SAGITTAL CRANIOSYNOSTOSIS (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM					HP:0002944	Thoracolumbar scoliosis			IEA	IEA	rare					OMIM-CS:skeletalspine > THORACOLUMBAR SCOLIOSIS (RARE)	OMIM:610199	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616868	DIARRHEA 8, SECRETORY SODIUM, CONGENITAL					HP:0002037	Inflammation of the large intestine			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > INFLAMMATORY BOWEL DISEASE (IN SOME PATIENTS)	OMIM:616868	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0030680	Abnormality of cardiovascular system morphology			IEA	IEA						OMIM-CS:cardiovascularheart > CONGENITAL HEART DEFECTS	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0001642	Pulmonic stenosis			IEA	IEA						OMIM-CS:cardiovascularheart > PULMONARY VALVE STENOSIS	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0001671	Abnormality of the cardiac septa			IEA	IEA						OMIM-CS:cardiovascularheart > SEPTAL DEFECTS	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000508	Ptosis			IEA	IEA	rare					OMIM-CS:headandneckeyes > PTOSIS (IN SOME PATIENTS)	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000574	Thick eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > THICK EYEBROWS	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000347	Micrognathia			IEA	IEA	rare					OMIM-CS:headandneckface > MICROGNATHIA (IN SOME PATIENTS)	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000248	Brachycephaly			IEA	IEA						OMIM-CS:headandneckhead > BRACHYCEPHALY	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0002714	Downturned corners of mouth			IEA	IEA						OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF THE MOUTH	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000219	Thin upper lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > THIN UPPER LIP	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000470	Short neck			IEA	IEA	rare					OMIM-CS:headandneckneck > SHORT NECK (IN SOME PATIENTS)	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000463	Anteverted nares			IEA	IEA						OMIM-CS:headandnecknose > ANTEVERTED NOSTRILS	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000414	Bulbous nose			IEA	IEA						OMIM-CS:headandnecknose > BULBOUS NASAL TIP	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0005280	Depressed nasal bridge			IEA	IEA	rare					OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE (IN SOME PATIENTS)	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000164	Abnormality of the dentition			IEA	IEA	rare					OMIM-CS:headandneckteeth > DENTAL ANOMALIES (IN SOME PATIENTS)	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > HIGHLY VARIABLE PHENOTYPE	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0002465	Poor speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000294	Low anterior hairline			IEA	IEA	rare					OMIM-CS:skinnailshairhair > LOW ANTERIOR HAIRLINE (IN SOME PATIENTS)	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0100874	Thick hair			IEA	IEA						OMIM-CS:skinnailshairhair > THICK HAIR	OMIM:610759	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610759	CORNELIA DE LANGE SYNDROME 3					HP:0000965	Cutis marmorata			IEA	IEA	rare					OMIM-CS:skinnailshairskin > CUTIS MARMORATA (IN SOME PATIENTS)	OMIM:610759	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0001399	Hepatic failure			IEA	IEA						OMIM-CS:abdomenliver > LIVER FAILURE	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0001719	Double outlet right ventricle			IEA	IEA						OMIM-CS:cardiovascularheart > DOUBLE OUTLET RIGHT VENTRICLE (DORV)	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0001643	Patent ductus arteriosus			IEA	IEA						OMIM-CS:cardiovascularheart > PATENT DUCTUS ARTERIOSUS	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0010461	Abnormality of the male genitalia			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > ABNORMAL MALE GENITALS	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE (3RD CENTILE)	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0004325	Decreased body weight			IEA	IEA						OMIM-CS:growthweight > LOW WEIGHT (3RD CENTILE)	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0000286	Epicanthus			IEA	IEA						OMIM-CS:headandneckeyes > EPICANTHAL FOLDS	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0000629	Periorbital fullness			IEA	IEA						OMIM-CS:headandneckeyes > PERIORBITAL PUFFINESS	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0000238	Hydrocephalus			IEA	IEA						OMIM-CS:headandneckhead > HYDROCEPHALUS	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0030799	Scaphocephaly			IEA	IEA						OMIM-CS:headandneckhead > SCAPHOCEPHALY	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > SMALL HEAD (3RD CENTILE)	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0000448	Prominent nose			IEA	IEA						OMIM-CS:headandnecknose > PROMINENT NOSE	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0001558	Decreased fetal movement			IEA	IEA						OMIM-CS:prenatalmanifestationsmovement > REDUCED FETAL MOVEMENT	OMIM:614886	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)					HP:0000260	Wide anterior fontanel			IEA	IEA						OMIM-CS:skeletalskull > WIDE ANTERIOR FONTANEL	OMIM:614886	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000767	Pectus excavatum			IEA	IEA						OMIM-CS:chestexternalfeatures > PECTUS EXCAVATUM	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000483	Astigmatism			IEA	IEA						OMIM-CS:headandneckeyes > ASTIGMATISM	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000494	Downslanted palpebral fissures			IEA	IEA						OMIM-CS:headandneckeyes > DOWN-SLANTING PALPEBRAL FISSURES	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000540	Hypermetropia			IEA	IEA						OMIM-CS:headandneckeyes > HYPERMETROPIA	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000348	High forehead			IEA	IEA						OMIM-CS:headandneckhead > HIGH FOREHEAD	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000232	Everted lower lip vermilion			IEA	IEA						OMIM-CS:headandneckmouth > EVERTED LOWER LIP	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000303	Mandibular prognathia			IEA	IEA						OMIM-CS:headandneckmouth > PROGNATHIA	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000160	Narrow mouth			IEA	IEA						OMIM-CS:headandneckmouth > SMALL MOUTH	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0006288	Advanced eruption of teeth			IEA	IEA						OMIM-CS:headandneckteeth > PREMATURE ERUPTION OF TEETH	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0001270	Motor delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MOTOR RETARDATION	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > VENTRICULAR DILATATION	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0100807	Long fingers			IEA	IEA						OMIM-CS:skeletalhands > LONG FINGERS	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0002673	Coxa valga			IEA	IEA						OMIM-CS:skeletallimbs > COXA VALGA	OMIM:614753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614753	SOTOS SYNDROME 2					HP:0000965	Cutis marmorata			IEA	IEA						MODIFIER:GENERALIZED;OMIM-CS:skinnailshairskin > LIVEDO RETICULARIS, GENERALIZED	OMIM:614753	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4					HP:0025303	Episodic			IEA	IEA						OMIM-CS:miscellaneous > EPISODIC	OMIM:616115	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:304340	PETTIGREW SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:304340	HPO:skoehler	13.07.2017
.
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616647	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35					HP:0001638	Cardiomyopathy			IEA	IEA	rare					OMIM-CS:cardiovascularheart > CARDIOMYOPATHY (1 PATIENT)	OMIM:616647	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616647	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35					HP:0001511	Intrauterine growth retardation			IEA	IEA						OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION	OMIM:616647	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616647	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35					HP:0006829	Severe muscular hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE	OMIM:616647	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616647	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY	OMIM:616647	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616647	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35					HP:0001298	Encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY	OMIM:616647	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:259770	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:259770	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608800	SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME					HP:0025428	Bronchospasm			IEA	IEA						OMIM-CS:respiratoryairways > BRONCHOSPASM	OMIM:608800	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608800	SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME					HP:0025425	Laryngospasm			IEA	IEA						OMIM-CS:respiratorylarynx > LARYNGOSPASM	OMIM:608800	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608800	SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME					HP:0025431	Staccato cry			IEA	IEA						OMIM-CS:voice > STACCATO CRY ('GOAT-LIKE')	OMIM:608800	HPO:skoehler	13.07.2017
..filter this Fri Jun 23 00:00:00 CEST 2017
OMIM:609122	ANEURYSM, INTRACRANIAL BERRY, 3					HP:0007029	Cerebral berry aneurysm			TAS	TAS							OMIM:609122	HPO:probinson	2017-06-23
filter this Fri Jun 23 00:00:00 CEST 2017
OMIM:609122	ANEURYSM, INTRACRANIAL BERRY, 3					HP:0000006	Autosomal dominant inheritance			TAS	TAS							OMIM:609122	HPO:probinson	2017-06-23
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615960	PORETTI-BOLTSHAUSER SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS)	OMIM:615960	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:245600	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS					HP:0000878	11 pairs of ribs			IEA	IEA	rare					OMIM-CS:chestribssternumclaviclesandscapulae > 11 PAIRS OF RIBS (RARE)	OMIM:245600	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:245600	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE HYPOPLASIA	OMIM:245600	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:245600	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS					HP:0002757	Recurrent fractures			IEA	IEA	rare					OMIM-CS:skeletal > MULTIPLE FRACTURES (RARE)	OMIM:245600	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:245600	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS					HP:0008905	Rhizomelia			IEA	IEA	rare					OMIM-CS:skeletallimbs > RHIZOMELIC SHORTENING (IN SOME PATIENTS)	OMIM:245600	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:260480	PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX					HP:0030991	Sclerosing cholangitis			IEA	IEA						OMIM-CS:gi > SCLEROSING CHOLANGITIS	OMIM:260480	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300661	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (EARLY-ONSET FORM)	OMIM:300661	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615065	ARTHROGRYPOSIS, DISTAL, TYPE 5D					HP:0002827	Hip dislocation			IEA	IEA	rare					OMIM-CS:skeletalpelvis > DISLOCATED HIPS, BILATERAL (IN SOME PATIENTS)	OMIM:615065	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615065	ARTHROGRYPOSIS, DISTAL, TYPE 5D					HP:0002650	Scoliosis			IEA	IEA	rare					OMIM-CS:skeletalspine > SCOLIOSIS, MILD TO SEVERE (IN SOME PATIENTS)	OMIM:615065	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616640	EPILEPSY, PROGRESSIVE MYOCLONIC, 10					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:616640	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616640	EPILEPSY, PROGRESSIVE MYOCLONIC, 10					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:616640	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616640	EPILEPSY, PROGRESSIVE MYOCLONIC, 10					HP:0000709	Psychosis			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > PSYCHOSIS	OMIM:616640	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616640	EPILEPSY, PROGRESSIVE MYOCLONIC, 10					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT	OMIM:616640	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616640	EPILEPSY, PROGRESSIVE MYOCLONIC, 10					HP:0000726	Dementia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEMENTIA	OMIM:616640	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616640	EPILEPSY, PROGRESSIVE MYOCLONIC, 10					HP:0001347	Hyperreflexia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA	OMIM:616640	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616640	EPILEPSY, PROGRESSIVE MYOCLONIC, 10					HP:0002300	Mutism			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MUTISM	OMIM:616640	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:158810	BETHLEM MYOPATHY 1					HP:0003202	Skeletal muscle atrophy			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE ATROPHY, MILD, MORE PROXIMAL THAN DISTAL	OMIM:158810	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:250940	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:250940	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:250940	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:250940	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615582	LOEYS-DIETZ SYNDROME 5					HP:0001659	Aortic regurgitation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > AORTIC INSUFFICIENCY, MILD (RARE)	OMIM:615582	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615582	LOEYS-DIETZ SYNDROME 5					HP:0006830	Severe neonatal hypotonia in males			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CONGENITAL HYPOTONIA, MILD (IN SOME PATIENTS)	OMIM:615582	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615582	LOEYS-DIETZ SYNDROME 5					HP:0002758	Osteoarthritis			IEA	IEA	rare					OMIM-CS:skeletal > OSTEOARTHRITIS, EARLY ONSET (IN SOME PATIENTS)	OMIM:615582	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616781	JOUBERT SYNDROME 25					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:616781	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616781	JOUBERT SYNDROME 25					HP:0001321	Cerebellar hypoplasia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA	OMIM:616781	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616632	SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS)	OMIM:616632	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:206000	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE					HP:0025066	Decreased mean corpuscular volume			IEA	IEA						OMIM-CS:heme > MICROCYTOSIS	OMIM:206000	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0002015	Dysphagia			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > DYSPHAGIA (IN SOME PATIENTS)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0000407	Sensorineural hearing impairment			IEA	IEA						OMIM-CS:headandneckears > SENSORINEURAL DEAFNESS (FAMILY A)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0000590	Progressive external ophthalmoplegia			IEA	IEA						OMIM-CS:headandneckeyes > PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (IN MOST PATIENTS)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0000508	Ptosis			IEA	IEA						OMIM-CS:headandneckeyes > PTOSIS (IN MOST PATIENTS)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0003236	Elevated serum creatine phosphokinase			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM CREATINE KINASE, MILD	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0002151	Increased serum lactate			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM LACTATE, MILD	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0003581	Adult onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN ADULTHOOD	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0003737	Mitochondrial myopathy			IEA	IEA						OMIM-CS:musclesofttissue > MITOCHONDRIAL MYOPATHY	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0003202	Skeletal muscle atrophy			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE ATROPHY	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0002460	Distal muscle weakness			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE WEAKNESS, DISTAL (FAMILY A)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0003701	Proximal muscle weakness			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE WEAKNESS, PROXIMAL	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0003200	Ragged-red muscle fibers			IEA	IEA						OMIM-CS:musclesofttissue > RAGGED-RED FIBERS	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0100543	Cognitive impairment			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT (FAMILY A)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0002120	Cerebral cortical atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CORTICAL ATROPHY (FAMILY A)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0003477	Peripheral axonal neuropathy			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > AXONAL NEUROPATHY (FAMILY A)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0001265	Hyporeflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA (FAMILY A)	OMIM:617070	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617070	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4					HP:0001618	Dysphonia			IEA	IEA						OMIM-CS:voice > DYSPHONIA	OMIM:617070	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613805	MEIER-GORLIN SYNDROME 5					HP:0011342	Mild global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR RETARDATION, MILD	OMIM:613805	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:605724	FANCONI ANEMIA, COMPLEMENTATION GROUP D1					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:605724	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:605724	FANCONI ANEMIA, COMPLEMENTATION GROUP D1					HP:0005528	Bone marrow hypocellularity			IEA	IEA						OMIM-CS:hematology > BONE MARROW FAILURE	OMIM:605724	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615344	PULMONARY HYPERTENSION, PRIMARY, 4					HP:0005317	Increased pulmonary vascular resistance			IEA	IEA						OMIM-CS:cardiovascularvascular > INCREASED PULMONARY VASCULAR RESISTANCE	OMIM:615344	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615344	PULMONARY HYPERTENSION, PRIMARY, 4					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE	OMIM:615344	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615344	PULMONARY HYPERTENSION, PRIMARY, 4					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:615344	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613563	NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:613563	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613563	NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA					HP:0002213	Fine hair			IEA	IEA						OMIM-CS:skinnailshairhair > THIN HAIR	OMIM:613563	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613675	CHROMOSOME 17Q11.2 DELETION SYNDROME, 1.4-MB					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA (45%)	OMIM:613675	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600399	PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:600399	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600399	PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:600399	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0012450	Chronic constipation			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > CHRONIC CONSTIPATION (IN SOME PATIENTS)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0002566	Intestinal malrotation			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > MALROTATION (IN SOME PATIENTS)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0001442	Somatic mosaicism			IEA	IEA						OMIM-CS:inheritance > SOMATIC MOSAICISM	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0007099	Arnold-Chiari type I malformation			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CHIARI I MALFORMATION (IN SOME PATIENTS)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0007206	Hemimegalencephaly			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HEMIMEGALENCEPHALY (IN SOME PATIENTS)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0001355	Megalencephaly			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > MEGALENCEPHALY (RARE)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0002126	Polymicrogyria			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > POLYMICROGYRIA (IN SOME PATIENTS)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR DELAY, MILD TO MODERATE	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0002119	Ventriculomegaly			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > VENTRICULOMEGALY	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0011304	Broad thumb			IEA	IEA	rare					OMIM-CS:skeletalhands > BROAD THUMBS (IN SOME PATIENTS)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0009942	Duplication of thumb phalanx			IEA	IEA	rare					OMIM-CS:skeletalhands > DUPLICATED THUMBS (IN SOME PATIENTS)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0001007	Hirsutism			IEA	IEA	rare					OMIM-CS:skinnailshairhair > HIRSUTISM (RARE)	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0010554	Cutaneous finger syndactyly			IEA	IEA						OMIM-CS:skinnailshairskin > CUTANEOUS SYNDACTYLY OF FINGERS	OMIM:601707	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601707	CURRY-JONES SYNDROME					HP:0010621	Cutaneous syndactyly of toes			IEA	IEA	rare					OMIM-CS:skinnailshairskin > CUTANEOUS SYNDACTYLY OF TOES (IN SOME PATIENTS)	OMIM:601707	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:177850	PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE					HP:0025533	Peau d'orange			TAS	TAS							OMIM:177850	HPO:skoehler	2017-07-13
filter this Sat Aug 26 00:00:00 CEST 2017
OMIM:177850	PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED					HP:0004966	Medial calcification of large arteries			TAS	TAS							OMIM:177850	HPO:probinson	2017-08-26
filter this Sat Aug 26 00:00:00 CEST 2017
OMIM:177850	PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED					HP:0012457	Medial calcification of medium-sized arteries			TAS	TAS							OMIM:177850	HPO:probinson	2017-08-26
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0003691	Scapular winging			IEA	IEA						OMIM-CS:chestribssternumclaviclesandscapulae > SCAPULAR WINGING	OMIM:617158	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0010628	Facial palsy			IEA	IEA						OMIM-CS:headandneckface > FACIAL WEAKNESS, MILD	OMIM:617158	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617158	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0003236	Elevated serum creatine phosphokinase			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM CREATINE KINASE	OMIM:617158	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0009027	Foot dorsiflexor weakness			IEA	IEA						OMIM-CS:musclesofttissue > FOOT DROP	OMIM:617158	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0003202	Skeletal muscle atrophy			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE ATROPHY	OMIM:617158	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0003805	Rimmed vacuoles			IEA	IEA						OMIM-CS:musclesofttissue > RIMMED VACUOLES	OMIM:617158	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0003376	Steppage gait			IEA	IEA						OMIM-CS:musclesofttissue > STEPPAGE GAIT	OMIM:617158	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES					HP:0003438	Absent Achilles reflex			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > ABSENT ANKLE REFLEXES	OMIM:617158	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616911	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:616911	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616911	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4					HP:0001263	Global developmental delay			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT (IN SOME PATIENTS)	OMIM:616911	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614462	HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614462	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614462	HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES					HP:0002059	Cerebral atrophy			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN SOME PATIENTS)	OMIM:614462	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614462	HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES					HP:0002415	Leukodystrophy			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > LEUKODYSTROPHY (IN SOME PATIENTS)	OMIM:614462	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614462	HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES					HP:0001336	Myoclonus			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MYOCLONUS	OMIM:614462	HPO:skoehler	13.07.2017
.
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617075	NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617075	HPO:skoehler	13.07.2017
.filter this Mon May 29 00:00:00 CEST 2017
OMIM:614841	#614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12					HP:0000013	Hypoplasia of the uterus			TAS	TAS							OMIM:614841	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:614841	#614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12					HP:0008724	Hypoplasia of the ovary			TAS	TAS							OMIM:614841	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:614841	#614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12					HP:0030339	Decreased circulating gonadotropin level			TAS	TAS							OMIM:614841	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:614841	#614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12					HP:0040171	Decreased serum testosterone level			TAS	TAS							OMIM:614841	HPO:probinson	2017-05-29
filter this Mon May 29 00:00:00 CEST 2017
OMIM:614841	#614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12					HP:0008214	Decreased serum estradiol			TAS	TAS							OMIM:614841	HPO:probinson	2017-05-29
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614841	HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA					HP:0000013	Hypoplasia of the uterus			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS	OMIM:614841	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613392	DEAFNESS, AUTOSOMAL RECESSIVE 85					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:613392	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612247	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS					HP:0000956	Acanthosis nigricans			IEA	IEA						OMIM-CS:skinnailshairskin > ACANTHOSIS NIGRICANS (NECK, AXILLA, GROIN, PERIORBITAL REGION, PERIORAL REGION)	OMIM:612247	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:604777	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5					HP:0025092	Epidermal acanthosis			IEA	IEA						MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE	OMIM:604777	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613320	SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE					HP:0000445	Wide nose			IEA	IEA						OMIM-CS:headandnecknose > INCREASED NASAL WIDTH	OMIM:613320	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617142	ANIRIDIA 3					HP:0000518	Cataract			IEA	IEA						OMIM-CS:headandneckeyes > CATARACT	OMIM:617142	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617142	ANIRIDIA 3					HP:0000529	Progressive visual loss			IEA	IEA						OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY, PROGRESSIVE	OMIM:617142	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617142	ANIRIDIA 3					HP:0000501	Glaucoma			IEA	IEA	rare					OMIM-CS:headandneckeyes > GLAUCOMA (IN SOME PATIENTS)	OMIM:617142	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617142	ANIRIDIA 3					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617142	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300243	MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:300243	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:312780	RUSSELL-SILVER SYNDROME, X-LINKED					HP:0001417	X-linked inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED, SEVERE IN MALES AND MILD IN FEMALES	OMIM:312780	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:236750	HYDROPS FETALIS, NONIMMUNE					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN UTERO	OMIM:236750	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:236750	HYDROPS FETALIS, NONIMMUNE					HP:0001790	Nonimmune hydrops fetalis			IEA	IEA						OMIM-CS:preferredtitle > HYDROPS FETALIS, NONIMMUNE	OMIM:236750	HPO:skoehler	13.07.2017
......................filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613957	SPERMATOGENIC FAILURE 8					HP:0030974	Cryptozoospermia			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTOZOOSPERMIA	OMIM:613957	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615553	ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615553	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:301790	SPINOCEREBELLAR ATAXIA, X-LINKED 3					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:301790	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0000365	Hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS (IN 2 MEMBERS OF 1 FAMILY)	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE PHENOTYPE	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0009027	Foot dorsiflexor weakness			IEA	IEA						OMIM-CS:musclesofttissue > FOOT DROP	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0001276	Hypertonia			IEA	IEA	rare					OMIM-CS:musclesofttissue > INCREASED MUSCLE TONE (IN SOME PATIENTS)	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0001263	Global developmental delay			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT (IN SOME PATIENTS)	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0007256	Abnormal pyramidal signs			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > PYRAMIDAL SIGNS (IN SOME PATIENTS)	OMIM:616688	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616688	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z					HP:0001620	High pitched voice			IEA	IEA						OMIM-CS:voice > HIGH-PITCHED VOICE (1 FAMILY)	OMIM:616688	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136550	MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE					HP:0000603	Central scotoma			IEA	IEA						OMIM-CS:headandneckeyes > CENTRAL SCOTOMATA	OMIM:136550	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136550	MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE					HP:0007663	Reduced visual acuity			IEA	IEA						OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY	OMIM:136550	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136550	MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE					HP:0200070	Peripheral retinal atrophy			IEA	IEA						OMIM-CS:headandneckeyes > PERIPHERAL RETINAL ATROPHY (IN OLDEST PATIENTS)	OMIM:136550	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:612073	MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:612073	HPO:skoehler	13.07.2017
..filter this Wed Jun 14 00:00:00 CEST 2017
OMIM:600513	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1					HP:0011463	Childhood onset			TAS	TAS							OMIM:600513	HPO:probinson	2017-06-14
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:607855	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:607855	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN FIRST YEAR OF LIFE (IN MOST PATIENTS)	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0000752	Hyperactivity			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0100660	Dyskinesia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSKINESIA	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0200134	Epileptic encephalopathy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:617113	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617113	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES	OMIM:617113	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4					HP:0001402	Hepatocellular carcinoma			IEA	IEA						OMIM-CS:neoplasia > HEPATOCELLULAR CARCINOMA, CHILDHOOD ONSET (REPORTED IN 2 PATIENTS)	OMIM:615878	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:238970	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:238970	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616917	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:616917	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616917	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53					HP:0006829	Severe muscular hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE	OMIM:616917	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616917	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ATAXIA (IN 1 FAMILY)	OMIM:616917	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616917	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53					HP:0001321	Cerebellar hypoplasia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN FAMILY C)	OMIM:616917	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616917	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53					HP:0002059	Cerebral atrophy			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN FAMILY C)	OMIM:616917	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:261740	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL					HP:0001999	Abnormal facial shape			IEA	IEA	rare					OMIM-CS:headandneckface > DYSMORPHIC FACIES, MILD (IN SOME PATIENTS)	OMIM:261740	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS					HP:0000988	Skin rash			IEA	IEA						OMIM-CS:skinnailshairskin > RASH	OMIM:616050	HPO:skoehler	13.07.2017
.filter this Mon Feb 01 00:00:00 CET 2016
OMIM:600204	#600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2					HP:0010585	Small epiphyses			TAS	TAS							OMIM:600204	HPO:probinson	Feb 1, 2016
filter this Mon Feb 01 00:00:00 CET 2016
OMIM:600204	#600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2					HP:0011463	Childhood onset			TAS	TAS							OMIM:600204	HPO:probinson	Feb 1, 2016
......
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:162300	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:162300	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608716	MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE					HP:0002553	Highly arched eyebrow			IEA	IEA						OMIM-CS:headandneckeyes > ARCHED EYEBROWS	OMIM:608716	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608716	MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000520	Proptosis			IEA	IEA						OMIM-CS:headandneckeyes > PROMINENT EYES	OMIM:608716	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608716	MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE					HP:0000341	Narrow forehead			IEA	IEA						OMIM-CS:headandneckface > BITEMPORAL NARROWING	OMIM:608716	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608716	MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE					HP:0001321	Cerebellar hypoplasia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN SOME PATIENTS)	OMIM:608716	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608716	MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOPLASTIC CORPUS CALLOSUM	OMIM:608716	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300322	LESCH-NYHAN SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:300322	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608885	STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:608885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608885	STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS					HP:0003593	Infantile onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET IN INFANCY	OMIM:608885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608885	STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS					HP:0001344	Absent speech			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > ABSENT SPEECH (PATIENT B)	OMIM:608885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608885	STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS					HP:0001251	Ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATAXIA (PATIENT A)	OMIM:608885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608885	STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (PATIENT C)	OMIM:608885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608885	STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS					HP:0002540	Inability to walk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK (PATIENT B)	OMIM:608885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:608885	STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS					HP:0001257	Spasticity			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (PATIENT B)	OMIM:608885	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:250250	CARTILAGE-HAIR HYPOPLASIA					HP:0002980	Femoral bowing			IEA	IEA						OMIM-CS:skeletallimbs > BOWED FEMURS, MILD	OMIM:250250	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:250250	CARTILAGE-HAIR HYPOPLASIA					HP:0003311	Hypoplasia of the odontoid process			IEA	IEA	rare					OMIM-CS:skeletalspine > ODONTOID HYPOPLASIA, MILD (IN SOME PATIENTS)	OMIM:250250	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616069	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MILD	OMIM:616069	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601438	RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:601438	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:601438	RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE					HP:0010743	Short metatarsal			IEA	IEA						OMIM-CS:skeletalfeet > SHORT METATARSALS	OMIM:601438	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617343	HYPERPARATHYROIDISM 4					HP:0006780	Parathyroid carcinoma			IEA	IEA	rare					OMIM-CS:endocrinefeatures > PARATHYROID CARCINOMA (RARE)	OMIM:617343	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617343	HYPERPARATHYROIDISM 4					HP:0008200	Primary hyperparathyroidism			IEA	IEA						OMIM-CS:endocrinefeatures > PRIMARY HYPERPARATHYROIDISM	OMIM:617343	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617343	HYPERPARATHYROIDISM 4					HP:0000787	Nephrolithiasis			IEA	IEA	rare					OMIM-CS:genitourinarykidneys > NEPHROLITHIASIS (IN SOME PATIENTS)	OMIM:617343	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617343	HYPERPARATHYROIDISM 4					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617343	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617343	HYPERPARATHYROIDISM 4					HP:0003072	Hypercalcemia			IEA	IEA						OMIM-CS:laboratoryabnormalities > HYPERCALCEMIA	OMIM:617343	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617343	HYPERPARATHYROIDISM 4					HP:0000938	Osteopenia			IEA	IEA	rare					OMIM-CS:skeletal > OSTEOPENIA (IN SOME PATIENTS)	OMIM:617343	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:161480	NASAL BONES, ABSENCE OF					HP:0002000	Short columella			IEA	IEA						OMIM-CS:headandnecknose > SHORT COLUMELLA	OMIM:161480	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:161480	NASAL BONES, ABSENCE OF					HP:0009933	Narrow naris			IEA	IEA						OMIM-CS:headandnecknose > SMALL NOSTRILS	OMIM:161480	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613174	CHROMOSOME 5P13 DUPLICATION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA (2 PATIENTS)	OMIM:613174	HPO:skoehler	13.07.2017
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE EXPRESSIVITY	OMIM:616969	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0010628	Facial palsy			IEA	IEA						OMIM-CS:headandneckface > FACIAL MUSCLE WEAKNESS	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0003236	Elevated serum creatine phosphokinase			IEA	IEA						OMIM-CS:laboratoryabnormalities > INCREASED SERUM CREATINE KINASE	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0003677	Slow progression			IEA	IEA						OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0002355	Difficulty walking			IEA	IEA						OMIM-CS:musclesofttissue > DIFFICULTY WALKING	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0003202	Skeletal muscle atrophy			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE ATROPHY	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0001265	Hyporeflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > PES EQUINOVARUS	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0001771	Achilles tendon contracture			IEA	IEA						OMIM-CS:skeletallimbs > ACHILLES TENDON CONTRACTURES	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0002987	Elbow flexion contracture			IEA	IEA						OMIM-CS:skeletallimbs > ELBOW CONTRACTURES	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0002808	Kyphosis			IEA	IEA						OMIM-CS:skeletalspine > KYPHOSIS	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0003307	Hyperlordosis			IEA	IEA						OMIM-CS:skeletalspine > LORDOSIS	OMIM:617114	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7					HP:0003306	Spinal rigidity			IEA	IEA						OMIM-CS:skeletalspine > RIGID SPINE	OMIM:617114	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616260	TENORIO SYNDROME					HP:0030880	Raynaud phenomenon			IEA	IEA						OMIM-CS:cardiovascularvascular > RAYNAUD PHENOMENON	OMIM:616260	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616260	TENORIO SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:616260	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:242100	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2					HP:0001596	Alopecia			IEA	IEA	rare					OMIM-CS:skinnailshairhair > ALOPECIA, MILD DIFFUSE (RARE)	OMIM:242100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:242100	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2					HP:0010783	Erythema			IEA	IEA	rare					OMIM-CS:skinnailshairskin > ERYTHEMA, MILD TO MODERATE (IN SOME PATIENTS)	OMIM:242100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:242100	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS	OMIM:242100	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:242100	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2					HP:0025114	Hypergranulosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > HYPERGRANULOSIS, MILD	OMIM:242100	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610377	MEVALONIC ACIDURIA					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:610377	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614741	MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614741	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:116200	CATARACT 1, MULTIPLE TYPES					HP:0000482	Microcornea			IEA	IEA	rare					OMIM-CS:headandneckeyes > MICROCORNEA (IN SOME PATIENTS)	OMIM:116200	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:116200	CATARACT 1, MULTIPLE TYPES					HP:0007787	Posterior subcapsular cataract			IEA	IEA						OMIM-CS:headandneckeyes > POSTERIOR SUBCAPSULAR CATARACT	OMIM:116200	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:203800	ALSTROM SYNDROME					HP:0001133	Constriction of peripheral visual field			IEA	IEA						OMIM-CS:headandneckeyes > VISUAL FIELD CONSTRICTION	OMIM:203800	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:613680	BEAULIEU-BOYCOTT-INNES SYNDROME					HP:0000348	High forehead			IEA	IEA						OMIM-CS:headandneckface > TALL FOREHEAD	OMIM:613680	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615560	OTOFACIOCERVICAL SYNDROME 2					HP:0000265	Mastoiditis			IEA	IEA	rare					OMIM-CS:skeletalskull > MASTOIDITIS, BILATERAL (IN SOME PATIENTS)	OMIM:615560	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES					HP:0000853	Goiter			IEA	IEA	rare					OMIM-CS:endocrinefeatures > GOITER (IN SOME PATIENTS)	OMIM:617175	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES					HP:0008209	Premature ovarian insufficiency			IEA	IEA	rare					OMIM-CS:endocrinefeatures > PRIMARY OVARIAN INSUFFICIENCY (IN SOME PATIENTS)	OMIM:617175	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES					HP:0000869	Secondary amenorrhea			IEA	IEA	rare					OMIM-CS:genitourinaryinternalgenitaliafemale > SECONDARY AMENORRHEA (IN SOME PATIENTS)	OMIM:617175	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES					HP:0007663	Reduced visual acuity			IEA	IEA						OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY	OMIM:617175	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES					HP:0000556	Retinal dystrophy			IEA	IEA						MODIFIER:PROGRESSIVE;OMIM-CS:headandneckeyes > RETINAL DYSTROPHY, PROGRESSIVE	OMIM:617175	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES					HP:0000853	Goiter			IEA	IEA	rare					OMIM-CS:headandneckneck > GOITER (IN SOME PATIENTS)	OMIM:617175	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617175	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES					HP:0002206	Pulmonary fibrosis			IEA	IEA						OMIM-CS:respiratorylung > PULMONARY FIBROSIS (IN 1 PATIENT)	OMIM:617175	HPO:skoehler	13.07.2017
..........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616323	MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:616323	HPO:skoehler	13.07.2017
......
...........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > POOR FEEDING (FAMILY A)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000637	Long palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > LONG PALPEBRAL FISSURES (FAMILY B)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS (FAMILY B)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY (-3 TO -5 SD) (FAMILY B)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE (FAMILY A)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000154	Wide mouth			IEA	IEA						OMIM-CS:headandneckmouth > WIDE MOUTH (FAMILY B)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000414	Bulbous nose			IEA	IEA						OMIM-CS:headandnecknose > BULBOUS NASAL TIP (FAMILY B)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA						OMIM-CS:musclesofttissue > TRUNCAL HYPOTONIA (FAMILY A)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000752	Hyperactivity			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY (FAMILY B)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH (FAMILY B)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TRUNCAL HYPOTONIA (FAMILY A)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0001561	Polyhydramnios			IEA	IEA						OMIM-CS:prenatalmanifestationsamnioticfluid > POLYHYDRAMNIOS (1 PATIENT IN FAMILY A)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0000938	Osteopenia			IEA	IEA						OMIM-CS:skeletal > OSTEOPENIA (FAMILY A)	OMIM:616809	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616809	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6					HP:0030084	Clinodactyly			IEA	IEA						OMIM-CS:skeletalhands > CLINODACTYLY (FAMILY A)	OMIM:616809	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:209100	ATONIC-ASTATIC SYNDROME OF FOERSTER					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neuro > HYPOTONIA	OMIM:209100	HPO:skoehler	13.07.2017
..filter this Tue Jul 19 00:00:00 CEST 2016
OMIM:115310	PARAGANGLIOMAS 4					HP:0006824	Cranial nerve paralysis			TAS	TAS							OMIM:115310	HPO:probinson	19-Jul-2016	
filter this Fri Jul 22 00:00:00 CEST 2016
OMIM:115310	PARAGANGLIOMAS 4					HP:0011976	Elevated urinary catecholamines			TAS	TAS						With pheochromocytoma	OMIM:115310	HPO:probinson	22-Jul-2016	
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611107	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4					HP:0000582	Upslanted palpebral fissure			IEA	IEA						OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES	OMIM:611107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611107	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4					HP:0000272	Malar flattening			IEA	IEA						OMIM-CS:headandneckface > MALAR HYPOPLASIA, MILD	OMIM:611107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611107	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, MILD (-2.7 SD)	OMIM:611107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611107	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:611107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611107	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4					HP:0012448	Delayed myelination			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION, MILD	OMIM:611107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611107	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION	OMIM:611107	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:611107	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR DEVELOPMENTAL DELAY, SEVERE	OMIM:611107	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615656	CHROMOSOME 15Q11.2 DELETION SYNDROME					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:615656	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:269150	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME					HP:0030736	Sacrococcygeal teratoma			IEA	IEA						OMIM-CS:neoplasia > SACROCOCCYGEAL TERATOMA	OMIM:269150	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0000028	Cryptorchidism			IEA	IEA						OMIM-CS:genitourinaryexternalgenitaliamale > CRYPTORCHIDISM	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0000365	Hearing impairment			IEA	IEA	rare					OMIM-CS:headandneckears > HEARING IMPAIRMENT (IN SOME PATIENTS)	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0000648	Optic atrophy			IEA	IEA	rare					OMIM-CS:headandneckeyes > OPTIC ATROPHY (IN SOME PATIENTS)	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0001999	Abnormal facial shape			IEA	IEA	rare					OMIM-CS:headandneckface > DYSMORPHIC FACIAL FEATURES, VARIABLE (IN SOME PATIENTS)	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0000347	Micrognathia			IEA	IEA						OMIM-CS:headandneckface > MICROGNATHIA	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0000175	Cleft palate			IEA	IEA						OMIM-CS:headandneckmouth > CLEFT PALATE	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0003577	Congenital onset			IEA	IEA						OMIM-CS:miscellaneous > ONSET AT BIRTH	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0008936	Muscular hypotonia of the trunk			IEA	IEA						OMIM-CS:musclesofttissue > TRUNCAL HYPOTONIA	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0002539	Cortical dysplasia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > CORTICAL DYSPLASIA (IN SOME PATIENTS)	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS)	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0002079	Hypoplasia of the corpus callosum			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN SOME PATIENTS)	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0001371	Flexion contracture			IEA	IEA	rare					OMIM-CS:skeletal > CONTRACTURES (IN SOME PATIENTS)	OMIM:617201	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617201	PERIVENTRICULAR NODULAR HETEROTOPIA 7					HP:0004691	2-3 toe syndactyly			IEA	IEA						OMIM-CS:skeletalfeet > TOE SYNDACTYLY, 2-3	OMIM:617201	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600666	POLYCYSTIC KIDNEY DISEASE 3					HP:0001407	Hepatic cysts			IEA	IEA						OMIM-CS:abdomenliver > LIVER CYSTS	OMIM:600666	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600666	POLYCYSTIC KIDNEY DISEASE 3					HP:0001410	Decreased liver function			IEA	IEA	rare					OMIM-CS:abdomenliver > LIVER DYSFUNCTION (IN SOME PATIENTS)	OMIM:600666	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600666	POLYCYSTIC KIDNEY DISEASE 3					HP:0000822	Hypertension			IEA	IEA	rare					OMIM-CS:cardiovascularvascular > HYPERTENSION (IN SOME PATIENTS)	OMIM:600666	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600666	POLYCYSTIC KIDNEY DISEASE 3					HP:0004944	Dilatation of the cerebral artery			IEA	IEA						OMIM-CS:cardiovascularvascular > INTRACRANIAL ANEURYSM (1 FAMILY)	OMIM:600666	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600666	POLYCYSTIC KIDNEY DISEASE 3					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:600666	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:600666	POLYCYSTIC KIDNEY DISEASE 3					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > HIGHLY VARIABLE SEVERITY	OMIM:600666	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:118400	CHERUBISM					HP:0030802	Lower eyelid retraction			IEA	IEA						OMIM-CS:headandneckeyes > LOWER EYELID RETRACTION	OMIM:118400	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610753	ALOPECIA AREATA 2					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:610753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610753	ALOPECIA AREATA 2					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:610753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610753	ALOPECIA AREATA 2					HP:0003829	Incomplete penetrance			IEA	IEA						OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE	OMIM:610753	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610753	ALOPECIA AREATA 2					HP:0002289	Alopecia universalis			IEA	IEA						OMIM-CS:skinnailshairhair > ALOPECIA UNIVERSALIS	OMIM:610753	HPO:skoehler	13.07.2017
.filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300636	IMMUNODEFICIENCY 33					HP:0000698	Conical tooth			IEA	IEA	rare					OMIM-CS:headandneckteeth > CONICAL TEETH (IN SOME PATIENTS)	OMIM:300636	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300636	IMMUNODEFICIENCY 33					HP:0000684	Delayed eruption of teeth			IEA	IEA	rare					OMIM-CS:headandneckteeth > DELAYED ERUPTION OF TEETH (IN SOME PATIENTS)	OMIM:300636	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300636	IMMUNODEFICIENCY 33					HP:0001419	X-linked recessive inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED RECESSIVE	OMIM:300636	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001659	Aortic regurgitation			IEA	IEA						OMIM-CS:cardiovascularheart > AORTIC INSUFFICIENCY	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001631	Atrial septal defect			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001634	Mitral valve prolapse			IEA	IEA						OMIM-CS:cardiovascularheart > MITRAL VALVE PROLAPSE	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0005180	Tricuspid regurgitation			IEA	IEA						OMIM-CS:cardiovascularheart > TRICUSPID INSUFFICIENCY	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0008689	Bilateral cryptorchidism			IEA	IEA						OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTORCHIDISM, BILATERAL	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0004322	Short stature			IEA	IEA						OMIM-CS:growthheight > SHORT STATURE	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001519	Disproportionate tall stature			IEA	IEA						OMIM-CS:growthother > MARFANOID HABITUS	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0004325	Decreased body weight			IEA	IEA						OMIM-CS:growthweight > LOW WEIGHT	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000369	Low-set ears			IEA	IEA						OMIM-CS:headandneckears > LOW-SET EARS	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000621	Entropion			IEA	IEA						OMIM-CS:headandneckeyes > ENTROPION	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000316	Hypertelorism			IEA	IEA						OMIM-CS:headandneckeyes > HYPERTELORISM	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000343	Long philtrum			IEA	IEA						OMIM-CS:headandneckface > LONG PHILTRUM	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000678	Dental crowding			IEA	IEA						OMIM-CS:headandneckmouth > DENTAL CROWDING	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000218	High palate			IEA	IEA						OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0010761	Broad columella			IEA	IEA						OMIM-CS:headandnecknose > BROAD COLUMELLA	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000455	Broad nasal tip			IEA	IEA						OMIM-CS:headandnecknose > BROAD NASAL TIP	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0009933	Narrow naris			IEA	IEA						OMIM-CS:headandnecknose > NARROW NOSTRILS	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0003758	Reduced subcutaneous adipose tissue			IEA	IEA						OMIM-CS:musclesofttissue > SPARSE SUBCUTANEOUS FAT	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001601	Laryngomalacia			IEA	IEA						OMIM-CS:respiratorylarynx > LARYNGOMALACIA	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001388	Joint laxity			IEA	IEA						OMIM-CS:skeletal > JOINT LAXITY	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > CLUB FEET	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001763	Pes planus			IEA	IEA						OMIM-CS:skeletalfeet > FLAT FEET	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001188	Hand clenching			IEA	IEA						OMIM-CS:skeletalhands > CLENCHED HANDS	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0006380	Knee flexion contracture			IEA	IEA						OMIM-CS:skeletallimbs > FLEXION CONTRACTURES OF KNEES	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0001385	Hip dysplasia			IEA	IEA						OMIM-CS:skeletalpelvis > HIP DYSPLASIA	OMIM:617402	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC					HP:0002751	Kyphoscoliosis			IEA	IEA						OMIM-CS:skeletalspine > KYPHOSCOLIOSIS	OMIM:617402	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:248360	MALONYL-COA DECARBOXYLASE DEFICIENCY					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:248360	HPO:skoehler	13.07.2017
....Unknown header column: SEX
.........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0011968	Feeding difficulties			IEA	IEA						OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000639	Nystagmus			IEA	IEA						OMIM-CS:headandneckeyes > NYSTAGMUS	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0011220	Prominent forehead			IEA	IEA						OMIM-CS:headandneckface > PROMINENT FOREHEAD	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000252	Microcephaly			IEA	IEA						OMIM-CS:headandneckhead > MICROCEPHALY, MILD	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0005280	Depressed nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000426	Prominent nasal bridge			IEA	IEA						OMIM-CS:headandnecknose > PROMINENT NASAL BRIDGE	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0006323	Premature loss of primary teeth			IEA	IEA						OMIM-CS:headandneckteeth > PREMATURE LOSS OF PRIMARY TEETH	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000691	Microdontia			IEA	IEA						OMIM-CS:headandneckteeth > SMALL TEETH	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000687	Widely spaced teeth			IEA	IEA						OMIM-CS:headandneckteeth > WIDELY SPACED TEETH	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000750	Delayed speech and language development			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0011304	Broad thumb			IEA	IEA						OMIM-CS:skeletalhands > BROAD THUMBS	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0001159	Syndactyly			IEA	IEA						OMIM-CS:skeletalhands > SYNDACTYLY	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0002650	Scoliosis			IEA	IEA						OMIM-CS:skeletalspine > SCOLIOSIS	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0002209	Sparse scalp hair			IEA	IEA						OMIM-CS:skinnailshairhair > SPARSE SCALP HAIR	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0001808	Fragile nails			IEA	IEA						OMIM-CS:skinnailshairnails > FRAGILE NAILS	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000958	Dry skin			IEA	IEA						OMIM-CS:skinnailshairskin > DRY SKIN	OMIM:617364	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617364	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA					HP:0000963	Thin skin			IEA	IEA						OMIM-CS:skinnailshairskin > THIN SKIN	OMIM:617364	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610131	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4					HP:0002578	Gastroparesis			IEA	IEA	rare					OMIM-CS:abdomengastrointestinal > DELAYED GASTRIC EMPTYING (IN SOME PATIENTS)	OMIM:610131	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:610131	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4					HP:0001290	Generalized hypotonia			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (IN SOME PATIENTS)	OMIM:610131	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:602196	PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:602196	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614424	JOUBERT SYNDROME 14					HP:0025514	Morning glory anomaly			IEA	IEA						OMIM-CS:headandneckeyes > MORNING GLORY DISC ANOMALY (1 FAMILY)	OMIM:614424	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614424	JOUBERT SYNDROME 14					HP:0000348	High forehead			IEA	IEA						OMIM-CS:headandneckhead > TALL FOREHEAD	OMIM:614424	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614424	JOUBERT SYNDROME 14					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:614424	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614424	JOUBERT SYNDROME 14					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE TO PROFOUND	OMIM:614424	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614424	JOUBERT SYNDROME 14					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA	OMIM:614424	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617280	ATRIAL FIBRILLATION, FAMILIAL, 18					HP:0001662	Bradycardia			IEA	IEA	rare					OMIM-CS:cardiovascularheart > BRADYCARDIA (IN SOME PATIENTS)	OMIM:617280	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617280	ATRIAL FIBRILLATION, FAMILIAL, 18					HP:0001962	Palpitations			IEA	IEA						OMIM-CS:cardiovascularheart > PALPITATIONS	OMIM:617280	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617280	ATRIAL FIBRILLATION, FAMILIAL, 18					HP:0004757	Paroxysmal atrial fibrillation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > PAROXYSMAL ATRIAL FIBRILLATION (IN SOME PATIENTS)	OMIM:617280	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617280	ATRIAL FIBRILLATION, FAMILIAL, 18					HP:0004754	Permanent atrial fibrillation			IEA	IEA	rare					OMIM-CS:cardiovascularheart > PERMANENT ATRIAL FIBRILLATION (IN SOME PATIENTS)	OMIM:617280	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617280	ATRIAL FIBRILLATION, FAMILIAL, 18					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617280	HPO:skoehler	13.07.2017
...filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136630	MENTAL RETARDATION, FRA12A TYPE					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:136630	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136630	MENTAL RETARDATION, FRA12A TYPE					HP:0003812	Phenotypic variability			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE PHENOTYPE	OMIM:136630	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136630	MENTAL RETARDATION, FRA12A TYPE					HP:0001250	Seizures			IEA	IEA	rare					OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS)	OMIM:136630	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:136630	MENTAL RETARDATION, FRA12A TYPE					HP:0000962	Hyperkeratosis			IEA	IEA						OMIM-CS:skinnailshairskin > HYPERKERATOSIS (IN 1 PATIENT)	OMIM:136630	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ					HP:0011094	Overbite			IEA	IEA	rare					OMIM-CS:headandneckteeth > DEEP OVERBITE (IN SOME PATIENTS)	OMIM:617297	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ					HP:0000670	Carious teeth			IEA	IEA	rare					OMIM-CS:headandneckteeth > DENTAL CARIES (IN SOME PATIENTS)	OMIM:617297	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ					HP:0010299	Abnormality of dentin			IEA	IEA				NOT	NOT	OMIM-CS:headandneckteeth > NORMAL DENTIN	OMIM:617297	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617297	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0011800	Midface retrusion			IEA	IEA						OMIM-CS:headandneckface > MIDFACE HYPOPLASIA	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0004482	Relative macrocephaly			IEA	IEA	rare					OMIM-CS:headandneckhead > RELATIVE MACROCEPHALY (IN SOME PATIENTS)	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0000158	Macroglossia			IEA	IEA	rare					OMIM-CS:headandneckmouth > MACROGLOSSIA (RARE)	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0000470	Short neck			IEA	IEA	rare					OMIM-CS:headandneckneck > SHORT NECK (RARE)	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0000668	Hypodontia			IEA	IEA	rare					OMIM-CS:headandneckteeth > HYPODONTIA (RARE)	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0002750	Delayed skeletal maturation			IEA	IEA						OMIM-CS:skeletal > DELAYED BONE AGE	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0001156	Brachydactyly			IEA	IEA						OMIM-CS:skeletalhands > BRACHYDACTYLY	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0002967	Cubitus valgus			IEA	IEA						OMIM-CS:skeletallimbs > CUBITUS VALGUS	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0008802	Hypoplasia of the femoral head			IEA	IEA						OMIM-CS:skeletallimbs > HYPOPLASTIC FEMORAL HEAD	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0100864	Short femoral neck			IEA	IEA						OMIM-CS:skeletallimbs > HYPOPLASTIC FEMORAL NECK	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0002673	Coxa valga			IEA	IEA	rare					OMIM-CS:skeletalpelvis > COXA VALGA (IN SOME PATIENTS)	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0002812	Coxa vara			IEA	IEA						OMIM-CS:skeletalpelvis > COXA VARA	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0008824	Hypoplastic iliac body			IEA	IEA						OMIM-CS:skeletalpelvis > HYPOPLASTIC ILIAC BODIES	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0010646	Cervical spine instability			IEA	IEA	rare					OMIM-CS:skeletalspine > CERVICAL SPINE INSTABILITY (IN SOME PATIENTS)	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0003300	Ovoid vertebral bodies			IEA	IEA						OMIM-CS:skeletalspine > OVOID VERTEBRAL BODIES	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0003423	Thoracolumbar kyphoscoliosis			IEA	IEA						OMIM-CS:skeletalspine > THORACOLUMBAR KYPHOSCOLIOSIS	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0008070	Sparse hair			IEA	IEA	rare					OMIM-CS:skinnailshairhair > SPARSE HAIR (RARE)	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0002164	Nail dysplasia			IEA	IEA	rare					OMIM-CS:skinnailshairnails > DYSPLASTIC NAILS (RARE)	OMIM:617396	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617396	ANAUXETIC DYSPLASIA 2					HP:0001792	Small nail			IEA	IEA	rare					OMIM-CS:skinnailshairnails > SMALL NAILS (RARE)	OMIM:617396	HPO:skoehler	13.07.2017
......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:615735	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE					HP:0025092	Epidermal acanthosis			IEA	IEA						OMIM-CS:skinnailshairskinhistology > ACANTHOSIS	OMIM:615735	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614885	PEROXISOME BIOGENESIS DISORDER 11B					HP:0000365	Hearing impairment			IEA	IEA						OMIM-CS:headandneckears > HEARING LOSS	OMIM:614885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614885	PEROXISOME BIOGENESIS DISORDER 11B					HP:0000518	Cataract			IEA	IEA						OMIM-CS:headandneckeyes > CATARACT	OMIM:614885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614885	PEROXISOME BIOGENESIS DISORDER 11B					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:614885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614885	PEROXISOME BIOGENESIS DISORDER 11B					HP:0001290	Generalized hypotonia			IEA	IEA						MODIFIER:PROGRESSIVE;OMIM-CS:musclesofttissue > HYPOTONIA, PROGRESSIVE	OMIM:614885	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614885	PEROXISOME BIOGENESIS DISORDER 11B					HP:0003323	Progressive muscle weakness			IEA	IEA						OMIM-CS:musclesofttissue > MUSCLE WEAKNESS, PROGRESSIVE	OMIM:614885	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300852	MENTAL RETARDATION, X-LINKED 88					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY	OMIM:300852	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:256040	AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME					HP:0025131	Finger swelling			IEA	IEA						OMIM-CS:skeletalhands > FINGER SWELLING	OMIM:256040	HPO:skoehler	13.07.2017
.....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0000646	Amblyopia			IEA	IEA						OMIM-CS:headandneckeyes > AMBLYOPIA	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0000483	Astigmatism			IEA	IEA						OMIM-CS:headandneckeyes > ASTIGMATISM	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0000486	Strabismus			IEA	IEA						OMIM-CS:headandneckeyes > STRABISMUS	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0000506	Telecanthus			IEA	IEA						OMIM-CS:headandneckeyes > TELECANTHUS	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0000293	Full cheeks			IEA	IEA						OMIM-CS:headandneckface > FULL CHEEKS	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0000256	Macrocephaly			IEA	IEA						OMIM-CS:headandneckhead > LARGE HEAD CIRCUMFERENCE	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0000006	Autosomal dominant inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL DOMINANT	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0001276	Hypertonia	HP:0003623	Neonatal onset	IEA	IEA						OMIM-CS:musclesofttissue > HYPERTONIA, NEONATAL	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0001319	Neonatal hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA, NEONATAL	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0001263	Global developmental delay			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD TO SEVERE	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0005616	Accelerated skeletal maturation			IEA	IEA						OMIM-CS:skeletal > ADVANCED BONE AGE	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0001762	Talipes equinovarus			IEA	IEA						OMIM-CS:skeletalfeet > TALIPES EQUINOVARUS	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0012385	Camptodactyly			IEA	IEA						OMIM-CS:skeletalhands > CAMPTODACTYLY	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0002751	Kyphoscoliosis			IEA	IEA						OMIM-CS:skeletalspine > KYPHOSCOLIOSIS	OMIM:617537	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:617537	RAHMAN SYNDROME					HP:0003764	Nevus			IEA	IEA						OMIM-CS:skinnailshairskin > NEVI	OMIM:617537	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0001433	Hepatosplenomegaly			IEA	IEA	rare					OMIM-CS:abdomenliver > HEPATOSPLENOMEGALY (IN SOME PATIENTS)	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0001433	Hepatosplenomegaly			IEA	IEA	rare					OMIM-CS:abdomenspleen > HEPATOSPLENOMEGALY (IN SOME PATIENTS)	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0005110	Atrial fibrillation			IEA	IEA						OMIM-CS:cardiovascularheart > ATRIAL FIBRILLATION	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0001644	Dilated cardiomyopathy			IEA	IEA						OMIM-CS:cardiovascularheart > DILATED CARDIOMYOPATHY (IN 60% OF PATIENTS)	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0001417	X-linked inheritance			IEA	IEA						OMIM-CS:inheritance > X-LINKED	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0003201	Rhabdomyolysis			IEA	IEA	rare					OMIM-CS:musclesofttissue > RHABDOMYOLYSIS (RARE)	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0000739	Anxiety			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > ANXIETY	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0000716	Depression			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > DEPRESSION	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0000722	Obsessive-compulsive behavior			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > OBSESSIVE-COMPULSIVE DISORDER	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0012075	Personality disorder			IEA	IEA						OMIM-CS:neurologicbehavioralpsychiatricmanifestations > PERSONALITY DISORDER	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0001260	Dysarthria			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA	OMIM:300842	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:300842	MCLEOD SYNDROME					HP:0001284	Areflexia			IEA	IEA						OMIM-CS:neurologicperipheralnervoussystem > ABSENT DEEP TENDON REFLEXES	OMIM:300842	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:213200	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2					HP:0001152	Saccadic smooth pursuit			IEA	IEA						OMIM-CS:headandneckeyes > SACCADIC SMOOTH PURSUIT	OMIM:213200	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:213200	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2					HP:0001290	Generalized hypotonia			IEA	IEA						OMIM-CS:musclesofttissue > HYPOTONIA	OMIM:213200	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:213200	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2					HP:0002066	Gait ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > GAIT ATAXIA	OMIM:213200	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:213200	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2					HP:0002070	Limb ataxia			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > LIMB ATAXIA	OMIM:213200	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:213200	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2					HP:0001337	Tremor			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > TREMOR	OMIM:213200	HPO:skoehler	13.07.2017
...
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:616937	THROMBOCYTOPENIA 6					HP:0000939	Osteoporosis			IEA	IEA	rare					OMIM-CS:skeletal > OSTEOPOROSIS (IN SOME PATIENTS)	OMIM:616937	HPO:skoehler	13.07.2017
.......filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:181270	SCALP-EAR-NIPPLE SYNDROME					HP:0002213	Fine hair			IEA	IEA	rare					OMIM-CS:skinnailshairhair > THIN HAIR (IN SOME PATIENTS)	OMIM:181270	HPO:skoehler	13.07.2017
........filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:239000	PAGET DISEASE OF BONE 5, JUVENILE-ONSET					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:239000	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:239000	PAGET DISEASE OF BONE 5, JUVENILE-ONSET					HP:0003828	Variable expressivity			IEA	IEA						OMIM-CS:miscellaneous > VARIABLE SEVERITY	OMIM:239000	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:239000	PAGET DISEASE OF BONE 5, JUVENILE-ONSET					HP:0031013	Ankylosis			IEA	IEA						OMIM-CS:skeletalspine > ANKYLOSIS	OMIM:239000	HPO:skoehler	13.07.2017
....filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:609541	SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY					HP:0003676	Progressive			IEA	IEA						OMIM-CS:miscellaneous > PROGRESSIVE DISORDER	OMIM:609541	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614208	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16					HP:0000007	Autosomal recessive inheritance			IEA	IEA						OMIM-CS:inheritance > AUTOSOMAL RECESSIVE	OMIM:614208	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614208	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16					HP:0001249	Intellectual disability			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION	OMIM:614208	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614208	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16					HP:0001250	Seizures			IEA	IEA						OMIM-CS:neurologiccentralnervoussystem > SEIZURES (SOME PATIENTS)	OMIM:614208	HPO:skoehler	13.07.2017
filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:614208	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16					HP:0000664	Synophrys			IEA	IEA						OMIM-CS:skinnailshairhair > SYNOPHRYS	OMIM:614208	HPO:skoehler	13.07.2017
..filter this Thu Jul 13 00:00:00 CEST 2017
OMIM:605