Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B179e4ec6042d44c95a6754c1ca49a8c3> ?p ?o ?g. }
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- B179e4ec6042d44c95a6754c1ca49a8c3 hasDbXref "Orphanet:192" @default.
- B179e4ec6042d44c95a6754c1ca49a8c3 type Axiom @default.
- B179e4ec6042d44c95a6754c1ca49a8c3 annotatedProperty IAO_0000115 @default.
- B179e4ec6042d44c95a6754c1ca49a8c3 annotatedSource MONDO_0010561 @default.
- B179e4ec6042d44c95a6754c1ca49a8c3 annotatedTarget "A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." @default.