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Ontology Browser

Term:
distal arthrogryposis type 1 (DOID:0111596)
Annotations: Rat: (25) Mouse: (26) Human: (27) Chinchilla: (22) Bonobo: (24) Dog: (25) Squirrel: (22) Pig: (24)
Parent Terms Term With Siblings Child Terms
congenital contractural arachnodactyly  
distal arthrogryposis type 1 +   
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. (DO)
distal arthrogryposis type 10 
Distal Arthrogryposis Type 2 +   
distal arthrogryposis type 3  
distal arthrogryposis type 4 
distal arthrogryposis type 5  
distal arthrogryposis type 5D  
distal arthrogryposis type 6 
distal arthrogryposis type 7  
Distal Arthrogryposis, Moore Weaver Type 
Distal Arthrogryposis, with Impaired Proprioception and Touch  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Freeman-Sheldon syndrome +   
Schaaf-Yang syndrome  
X-linked spinal muscular atrophy 2  

Synonyms
Exact Synonyms: AMCD1 ;   DA1 ;   distal arthrogryposis multiplex congenita, type 1 ;   distal arthrogryposis multiplex congenita, type I
Primary IDs: MESH:C535378
Alternate IDs: MESH:C565097 ;   OMIM:126050
Xrefs: GARD:787 ;   ORDO:1146
Definition Sources: https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7039311 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8923936 "DO" "DO"

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