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- B4626c1ece5af0f9aa7e0178bd620f1f7 hasDbXref "Orphanet:2153" @default.
- B4626c1ece5af0f9aa7e0178bd620f1f7 type Axiom @default.
- B4626c1ece5af0f9aa7e0178bd620f1f7 annotatedProperty IAO_0000115 @default.
- B4626c1ece5af0f9aa7e0178bd620f1f7 annotatedSource MONDO_0009344 @default.
- B4626c1ece5af0f9aa7e0178bd620f1f7 annotatedTarget "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." @default.