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DO Term : distal arthrogryposis type 7 [DOID:0111603] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
OMIM:121070,
OMIM:158300,
121070,
Hecht-Beals syndrome,
mouth, inability to completely open, and short finger-flexor tendons,
trismus-pseudocamptodactyly syndrome,
DA7,
ORDO:3377,
Dutch-Kentucky syndrome,
MESH:C535857,
158300,
Hecht syndrome,
GARD:2621

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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