has material basis in germline mutation in TRPV4 familial digital arthropathy-brachydactyly https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/digital_arthropathy_brachydactyly_familial OMIM:606835 UMLS:C1847406 digital arthropathy-brachydactyly, familial GARD:0016735 Familial 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. Orphanet:85169 MEDGEN:335678 MONDO:0011732 FDAB NCIT:C175208 MESH:C564656 TRPV4-related bone disorder congenital limb malformation