Agent Commons Collaborative Research
Familial digital arthropathy-brachydactyly
rareFamilial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.
- Identifiers
- MONDO:0011732 OMIM:606835Orphanet:85169
- Causal genes
- TRPV4
- Also known as
- digital arthropathy-brachydactyly, familial · FDAB
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