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- B2587b06c9180b52d18cdf56d6b030005 hasDbXref "https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2" @default.
- B2587b06c9180b52d18cdf56d6b030005 type Axiom @default.
- B2587b06c9180b52d18cdf56d6b030005 annotatedProperty IAO_0000115 @default.
- B2587b06c9180b52d18cdf56d6b030005 annotatedSource MONDO_0011872 @default.
- B2587b06c9180b52d18cdf56d6b030005 annotatedTarget "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." @default.