Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B01d8b33f7de385e277cc40a311499c82> ?p ?o ?g. }
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- B01d8b33f7de385e277cc40a311499c82 hasDbXref "Orphanet:3417" @default.
- B01d8b33f7de385e277cc40a311499c82 type Axiom @default.
- B01d8b33f7de385e277cc40a311499c82 annotatedProperty IAO_0000115 @default.
- B01d8b33f7de385e277cc40a311499c82 annotatedSource MONDO_0010754 @default.
- B01d8b33f7de385e277cc40a311499c82 annotatedTarget "A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." @default.