Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B3b9dce44c67c8c994e1deb82fd4e4335> ?p ?o ?g. }
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- B3b9dce44c67c8c994e1deb82fd4e4335 hasDbXref "Orphanet:79118" @default.
- B3b9dce44c67c8c994e1deb82fd4e4335 type Axiom @default.
- B3b9dce44c67c8c994e1deb82fd4e4335 annotatedProperty IAO_0000115 @default.
- B3b9dce44c67c8c994e1deb82fd4e4335 annotatedSource MONDO_0012436 @default.
- B3b9dce44c67c8c994e1deb82fd4e4335 annotatedTarget "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others" @default.