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/8923936, https://www.ncbi.nlm.nih.gov/pubmed/19571066, https://www.ncbi.nlm.nih.gov/pubmed/7039311 |
Xrefs |
SNOMEDCT_US_2021_09_01:715314008 |
Subsets |
DO_rare_slim |
Synonyms |
DA1 [EXACT] digitotalar dysmorphism [EXACT] |
Parent Relationships |