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- Bccf70068b2fedc9b429e5533eae0e0e8 hasDbXref "Orphanet:79118" @default.
- Bccf70068b2fedc9b429e5533eae0e0e8 type Axiom @default.
- Bccf70068b2fedc9b429e5533eae0e0e8 annotatedProperty IAO_0000115 @default.
- Bccf70068b2fedc9b429e5533eae0e0e8 annotatedSource MONDO_0012436 @default.
- Bccf70068b2fedc9b429e5533eae0e0e8 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.