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- B218f0897d75b858f8ca6f2561fcefc59 hasDbXref "PMID:35069422" @default.
- B218f0897d75b858f8ca6f2561fcefc59 hasDbXref "https://clinicalgenome.org/affiliation/40060/" @default.
- B218f0897d75b858f8ca6f2561fcefc59 type Axiom @default.
- B218f0897d75b858f8ca6f2561fcefc59 annotatedProperty IAO_0000115 @default.
- B218f0897d75b858f8ca6f2561fcefc59 annotatedSource MONDO_0100155 @default.
- B218f0897d75b858f8ca6f2561fcefc59 annotatedTarget "An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes." @default.