Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B073fff7eef4d491441779a4dd2805d46> ?p ?o ?g. }
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- B073fff7eef4d491441779a4dd2805d46 hasDbXref "Orphanet:163746" @default.
- B073fff7eef4d491441779a4dd2805d46 type Axiom @default.
- B073fff7eef4d491441779a4dd2805d46 annotatedProperty IAO_0000115 @default.
- B073fff7eef4d491441779a4dd2805d46 annotatedSource MONDO_0012198 @default.
- B073fff7eef4d491441779a4dd2805d46 annotatedTarget "A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." @default.