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Ontology Browser

Term:
Distal Arthrogryposis, Type 1A (DOID:9007315)
Annotations: Rat: (5) Mouse: (6) Human: (6) Chinchilla: (4) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
Distal Arthrogryposis, Type 1A  
In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Distal arthrogryposis type 1A (DA1A) and type 2B4 (DA2B4) are caused by heterozygous mutation in the TPM2 gene on chromosome 9p13. (OMIM)
Distal Arthrogryposis, Type 1B  

Synonyms
Exact Synonyms: DA1A
Primary IDs: OMIM:108120
Alternate IDs: RDO:0007884

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.