Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B83b82265877b83e678b1b637b3089624> ?p ?o ?g. }
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- B83b82265877b83e678b1b637b3089624 NCIT_P378 "NCI" @default.
- B83b82265877b83e678b1b637b3089624 type Axiom @default.
- B83b82265877b83e678b1b637b3089624 annotatedProperty IAO_0000115 @default.
- B83b82265877b83e678b1b637b3089624 annotatedSource NCIT_C74984 @default.
- B83b82265877b83e678b1b637b3089624 annotatedTarget "A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities." @default.