Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B55da134f159f33010c8e8a7d762867b6> ?p ?o ?g. }
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- B55da134f159f33010c8e8a7d762867b6 hasDbXref "Orphanet:250972" @default.
- B55da134f159f33010c8e8a7d762867b6 type Axiom @default.
- B55da134f159f33010c8e8a7d762867b6 annotatedProperty IAO_0000115 @default.
- B55da134f159f33010c8e8a7d762867b6 annotatedSource MONDO_0013172 @default.
- B55da134f159f33010c8e8a7d762867b6 annotatedTarget "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." @default.