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- Ba8c27d8c8620112d3005d277fcb4e098 hasDbXref "NCIT:C98986" @default.
- Ba8c27d8c8620112d3005d277fcb4e098 type Axiom @default.
- Ba8c27d8c8620112d3005d277fcb4e098 annotatedProperty IAO_0000115 @default.
- Ba8c27d8c8620112d3005d277fcb4e098 annotatedSource MONDO_0002012 @default.
- Ba8c27d8c8620112d3005d277fcb4e098 annotatedTarget "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." @default.