Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B15218903df4edcd27deb7d0286f35b6d> ?p ?o ?g. }
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- B15218903df4edcd27deb7d0286f35b6d hasDbXref "PMID:35069422" @default.
- B15218903df4edcd27deb7d0286f35b6d hasDbXref "https://clinicalgenome.org/affiliation/40060/" @default.
- B15218903df4edcd27deb7d0286f35b6d hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B15218903df4edcd27deb7d0286f35b6d type Axiom @default.
- B15218903df4edcd27deb7d0286f35b6d annotatedProperty IAO_0000115 @default.
- B15218903df4edcd27deb7d0286f35b6d annotatedSource MONDO_0100149 @default.
- B15218903df4edcd27deb7d0286f35b6d annotatedTarget "An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism." @default.