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- B93b259e5d1ab1c70736485d51a13d9e2 hasDbXref "Orphanet:85164" @default.
- B93b259e5d1ab1c70736485d51a13d9e2 type Axiom @default.
- B93b259e5d1ab1c70736485d51a13d9e2 annotatedProperty IAO_0000115 @default.
- B93b259e5d1ab1c70736485d51a13d9e2 annotatedSource MONDO_0012504 @default.
- B93b259e5d1ab1c70736485d51a13d9e2 annotatedTarget "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." @default.