distal arthrogryposis type 1

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Summary

Literature (0)

DOID:0111596 - distal arthrogryposis type 1

Disease Ontology Definition:A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.

Synonyms: DA1, digitotalar dysmorphism

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mybpc1, tpm2

MIM:

MIM:126050 - DIGITOTALAR DYSMORPHISM

MIM:126050 - DIGITOTALAR DYSMORPHISM

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): distal arthrogryposis (is_a)