Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B82262eaa8a14cd1019aa30db336d6cbb> ?p ?o ?g. }
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- B82262eaa8a14cd1019aa30db336d6cbb hasDbXref "Orphanet:1493" @default.
- B82262eaa8a14cd1019aa30db336d6cbb type Axiom @default.
- B82262eaa8a14cd1019aa30db336d6cbb annotatedProperty IAO_0000115 @default.
- B82262eaa8a14cd1019aa30db336d6cbb annotatedSource MONDO_0009452 @default.
- B82262eaa8a14cd1019aa30db336d6cbb annotatedTarget "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." @default.