Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf1f173e7fe71fc5c8ff251721348783a> ?p ?o ?g. }
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- Bf1f173e7fe71fc5c8ff251721348783a hasDbXref "Orphanet:2850" @default.
- Bf1f173e7fe71fc5c8ff251721348783a type Axiom @default.
- Bf1f173e7fe71fc5c8ff251721348783a annotatedProperty IAO_0000115 @default.
- Bf1f173e7fe71fc5c8ff251721348783a annotatedSource MONDO_0008756 @default.
- Bf1f173e7fe71fc5c8ff251721348783a annotatedTarget "An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." @default.