Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B633cc5bb773574c73ed890eeeea3d0e7> ?p ?o ?g. }
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- B633cc5bb773574c73ed890eeeea3d0e7 hasDbXref "Orphanet:168569" @default.
- B633cc5bb773574c73ed890eeeea3d0e7 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B633cc5bb773574c73ed890eeeea3d0e7 type Axiom @default.
- B633cc5bb773574c73ed890eeeea3d0e7 annotatedProperty IAO_0000115 @default.
- B633cc5bb773574c73ed890eeeea3d0e7 annotatedSource MONDO_0011273 @default.
- B633cc5bb773574c73ed890eeeea3d0e7 annotatedTarget "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." @default.