Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bff61257897cb3b0ac127798ec2f12e20> ?p ?o ?g. }
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- Bff61257897cb3b0ac127798ec2f12e20 hasDbXref "Orphanet:3241" @default.
- Bff61257897cb3b0ac127798ec2f12e20 type Axiom @default.
- Bff61257897cb3b0ac127798ec2f12e20 annotatedProperty IAO_0000115 @default.
- Bff61257897cb3b0ac127798ec2f12e20 annotatedSource MONDO_0007428 @default.
- Bff61257897cb3b0ac127798ec2f12e20 annotatedTarget "Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." @default.