Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B856c882b0d53be2e9f8c200b934b4767> ?p ?o ?g. }
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- B856c882b0d53be2e9f8c200b934b4767 hasDbXref "Orphanet:90652" @default.
- B856c882b0d53be2e9f8c200b934b4767 type Axiom @default.
- B856c882b0d53be2e9f8c200b934b4767 annotatedProperty IAO_0000115 @default.
- B856c882b0d53be2e9f8c200b934b4767 annotatedSource MONDO_0010571 @default.
- B856c882b0d53be2e9f8c200b934b4767 annotatedTarget "A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." @default.