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- B7213d2ad652b9b8bbdbbe1e781453373 hasDbXref "Orphanet:141330" @default.
- B7213d2ad652b9b8bbdbbe1e781453373 type Axiom @default.
- B7213d2ad652b9b8bbdbbe1e781453373 annotatedProperty IAO_0000115 @default.
- B7213d2ad652b9b8bbdbbe1e781453373 annotatedSource MONDO_0015422 @default.
- B7213d2ad652b9b8bbdbbe1e781453373 annotatedTarget "Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated." @default.