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Metadata
ID DOID:0111603
Name distal arthrogryposis type 7
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.
https://www.ncbi.nlm.nih.gov/pubmed/15282353
Xrefs

GARD:2621

MESH:C535857

OMIM:121070

OMIM:158300

ORDO:3377

Subsets

DO_rare_slim

Synonyms

DA7 [EXACT]

Dutch-Kentucky syndrome [EXACT]

Hecht syndrome [EXACT]

Hecht-Beals syndrome [EXACT]

mouth, inability to completely open, and short finger-flexor tendons [EXACT]

trismus-pseudocamptodactyly syndrome [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a distal arthrogryposis

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