Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ARTHROGRYPOSIS, DISTAL, TYPE 8
Synonyms

MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT
ID

http://purl.bioontology.org/ontology/OMIM/178110
altLabel

MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT

PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT

DA8
cui

C1867440
Gene Locus

17p13.1
Gene Symbol

DA2B

MYH3

DA2A

DA8
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037217

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU018362

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU001751

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU006236

http://purl.bioontology.org/ontology/OMIM/MTHU048696

http://purl.bioontology.org/ontology/OMIM/MTHU048694

http://purl.bioontology.org/ontology/OMIM/MTHU028299

http://purl.bioontology.org/ontology/OMIM/MTHU048698

http://purl.bioontology.org/ontology/OMIM/MTHU015820

http://purl.bioontology.org/ontology/OMIM/MTHU040358

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU036562

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU048697

http://purl.bioontology.org/ontology/OMIM/MTHU021532

http://purl.bioontology.org/ontology/OMIM/MTHU048693

http://purl.bioontology.org/ontology/OMIM/MTHU016668

http://purl.bioontology.org/ontology/OMIM/MTHU048699

http://purl.bioontology.org/ontology/OMIM/MTHU016790

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU043887

http://purl.bioontology.org/ontology/OMIM/MTHU048695
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

178110
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ARTHROGRYPOSIS, DISTAL, TYPE 8
tui

T047
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http://purl.bioontology.org/ontology/MESH/C566739 Medical Subject Headings CUI