Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B51d565fa62a7fbd0b7047d312befe481> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B51d565fa62a7fbd0b7047d312befe481 NCIT_P378 "NCI" @default.
- B51d565fa62a7fbd0b7047d312befe481 type Axiom @default.
- B51d565fa62a7fbd0b7047d312befe481 annotatedProperty IAO_0000115 @default.
- B51d565fa62a7fbd0b7047d312befe481 annotatedSource NCIT_C99100 @default.
- B51d565fa62a7fbd0b7047d312befe481 annotatedTarget "An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes." @default.