Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B3ac7f836aba8cc40e6161d2462f4d7f4> ?p ?o ?g. }
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- B3ac7f836aba8cc40e6161d2462f4d7f4 hasDbXref "Orphanet:157954" @default.
- B3ac7f836aba8cc40e6161d2462f4d7f4 type Axiom @default.
- B3ac7f836aba8cc40e6161d2462f4d7f4 annotatedProperty IAO_0000115 @default.
- B3ac7f836aba8cc40e6161d2462f4d7f4 annotatedSource MONDO_0012794 @default.
- B3ac7f836aba8cc40e6161d2462f4d7f4 annotatedTarget "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." @default.