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- B3b94e166559f76b33ab360a51fecfb01 hasDbXref "NCIT:C98986" @default.
- B3b94e166559f76b33ab360a51fecfb01 type Axiom @default.
- B3b94e166559f76b33ab360a51fecfb01 annotatedProperty IAO_0000115 @default.
- B3b94e166559f76b33ab360a51fecfb01 annotatedSource MONDO_0002012 @default.
- B3b94e166559f76b33ab360a51fecfb01 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.