Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B3075e0fecf48ebe4e48aa08b31488b2d> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B3075e0fecf48ebe4e48aa08b31488b2d hasDbXref "Orphanet:672" @default.
- B3075e0fecf48ebe4e48aa08b31488b2d type Axiom @default.
- B3075e0fecf48ebe4e48aa08b31488b2d annotatedProperty IAO_0000115 @default.
- B3075e0fecf48ebe4e48aa08b31488b2d annotatedSource MONDO_0007804 @default.
- B3075e0fecf48ebe4e48aa08b31488b2d annotatedTarget "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." @default.