distal arthrogryposis type 7

Summary

DOID:0111603 - distal arthrogryposis type 7

Disease Ontology Definition:A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1.

Synonyms: DA7, Dutch-Kentucky syndrome, Hecht syndrome, Hecht-Beals syndrome, mouth, inability to completely open, and short finger-flexor tendons, trismus-pseudocamptodactyly syndrome,

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

: myh8

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

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

Parent(s): autosomal dominant disease (is_a), distal arthrogryposis (is_a)