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- B2f4f7a04ae81dff3ab70f6ee0e5446f7 hasDbXref "Orphanet:977" @default.
- B2f4f7a04ae81dff3ab70f6ee0e5446f7 type Axiom @default.
- B2f4f7a04ae81dff3ab70f6ee0e5446f7 annotatedProperty IAO_0000115 @default.
- B2f4f7a04ae81dff3ab70f6ee0e5446f7 annotatedSource MONDO_0010288 @default.
- B2f4f7a04ae81dff3ab70f6ee0e5446f7 annotatedTarget "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982." @default.