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- B8377acab0259292e477d23be7e9f0adb hasDbXref "Orphanet:88639" @default.
- B8377acab0259292e477d23be7e9f0adb type Axiom @default.
- B8377acab0259292e477d23be7e9f0adb annotatedProperty IAO_0000115 @default.
- B8377acab0259292e477d23be7e9f0adb annotatedSource MONDO_0009603 @default.
- B8377acab0259292e477d23be7e9f0adb annotatedTarget "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." @default.