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- B3cfe13c20d034e6ba1afaad3ba5a6528 hasDbXref "Orphanet:3238" @default.
- B3cfe13c20d034e6ba1afaad3ba5a6528 type Axiom @default.
- B3cfe13c20d034e6ba1afaad3ba5a6528 annotatedProperty IAO_0000115 @default.
- B3cfe13c20d034e6ba1afaad3ba5a6528 annotatedSource MONDO_0008005 @default.
- B3cfe13c20d034e6ba1afaad3ba5a6528 annotatedTarget "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance." @default.