Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B99bf1a0b505b04fb7862b9862fca80f2> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- B99bf1a0b505b04fb7862b9862fca80f2 hasDbXref "Orphanet:110" @default.
- B99bf1a0b505b04fb7862b9862fca80f2 hasDbXref "PMID:10874630" @default.
- B99bf1a0b505b04fb7862b9862fca80f2 type Axiom @default.
- B99bf1a0b505b04fb7862b9862fca80f2 annotatedProperty IAO_0000115 @default.
- B99bf1a0b505b04fb7862b9862fca80f2 annotatedSource MONDO_0015229 @default.
- B99bf1a0b505b04fb7862b9862fca80f2 annotatedTarget "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems" @default.