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- NCIT_C175208 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by interphalangeal, metacarpophalangeal, and metatarsophalangeal joint deformity and painful osteoarthritis becoming apparent during the first decade of life." @default.
- NCIT_C175208 NCIT_NHC0 "C175208" @default.
- NCIT_C175208 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C175208 NCIT_P108 "Familial Digital Arthropathy-Brachydactyly" @default.
- NCIT_C175208 NCIT_P207 "C1847406" @default.
- NCIT_C175208 NCIT_P322 "Cellosaurus" @default.
- NCIT_C175208 NCIT_R176 NCIT_C138111 @default.
- NCIT_C175208 NCIT_R176 NCIT_C16612 @default.
- NCIT_C175208 NCIT_R176 NCIT_C21295 @default.
- NCIT_C175208 NCIT_R176 NCIT_C25869 @default.
- NCIT_C175208 NCIT_R176 NCIT_C25993 @default.
- NCIT_C175208 NCIT_R176 NCIT_C26039 @default.
- NCIT_C175208 NCIT_R176 NCIT_C28533 @default.
- NCIT_C175208 normalizedInformationContent "100" @default.
- NCIT_C175208 referenceCount "1" @default.
- NCIT_C175208 hasExactSynonym "FDAB" @default.
- NCIT_C175208 hasExactSynonym "Familial Digital Arthropathy-Brachydactyly" @default.
- NCIT_C175208 inSubset NCIT_C165258 @default.
- NCIT_C175208 inSubset NCIT_C192842 @default.
- NCIT_C175208 type Class @default.
- NCIT_C175208 isDefinedBy ncit.owl @default.
- NCIT_C175208 label "Familial Digital Arthropathy-Brachydactyly" @default.
- NCIT_C175208 subClassOf Bc71961c6aacfac659f806fd1d8cf5448 @default.
- NCIT_C175208 subClassOf Bdf33b586ee78bd0f54e777dac6e31e55 @default.
- NCIT_C175208 subClassOf NCIT_C175208 @default.
- NCIT_C175208 subClassOf NCIT_C2991 @default.
- NCIT_C175208 subClassOf NCIT_C4873 @default.
- NCIT_C175208 subClassOf NCIT_C53529 @default.
- NCIT_C175208 subClassOf NCIT_C53543 @default.
- NCIT_C175208 subClassOf NCIT_C53547 @default.
- NCIT_C175208 subClassOf NCIT_C7057 @default.