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- B94dc7a9b1da7cf5fed2fbcc4177d49a3 hasDbXref "PMID:35069422" @default.
- B94dc7a9b1da7cf5fed2fbcc4177d49a3 hasDbXref "https://clinicalgenome.org/affiliation/40060/" @default.
- B94dc7a9b1da7cf5fed2fbcc4177d49a3 type Axiom @default.
- B94dc7a9b1da7cf5fed2fbcc4177d49a3 annotatedProperty IAO_0000115 @default.
- B94dc7a9b1da7cf5fed2fbcc4177d49a3 annotatedSource MONDO_0100155 @default.
- B94dc7a9b1da7cf5fed2fbcc4177d49a3 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.