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Metadata
ID DOID:0111596
Name distal arthrogryposis type 1
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.
https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1, https://www.ncbi.nlm.nih.gov/pubmed/19571066, https://www.ncbi.nlm.nih.gov/pubmed/7039311, https://www.ncbi.nlm.nih.gov/pubmed/8923936
Xrefs

GARD:787

MESH:C565097

MIM:126050

ORDO:1146

SNOMEDCT_US_2021_09_01:715314008

Subsets

DO_rare_slim

Synonyms

DA1 [EXACT]

digitotalar dysmorphism [EXACT]

Parent Relationships

is_a distal arthrogryposis

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