Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bc2762d76afc8251ffcfca55a9b7b44a6> ?p ?o ?g. }
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- Bc2762d76afc8251ffcfca55a9b7b44a6 hasDbXref "Orphanet:2885" @default.
- Bc2762d76afc8251ffcfca55a9b7b44a6 type Axiom @default.
- Bc2762d76afc8251ffcfca55a9b7b44a6 annotatedProperty IAO_0000115 @default.
- Bc2762d76afc8251ffcfca55a9b7b44a6 annotatedSource MONDO_0008245 @default.
- Bc2762d76afc8251ffcfca55a9b7b44a6 annotatedTarget "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971." @default.