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- NCIT_C98964 IAO_0000115 "A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma." @default.
- NCIT_C98964 NCIT_NHC0 "C98964" @default.
- NCIT_C98964 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C98964 NCIT_P108 "Isovaleric Acidemia" @default.
- NCIT_C98964 NCIT_P207 "C0268575" @default.
- NCIT_C98964 NCIT_P322 "Cellosaurus" @default.
- NCIT_C98964 NCIT_P322 "NICHD" @default.
- NCIT_C98964 NCIT_R176 NCIT_C16612 @default.
- NCIT_C98964 NCIT_R176 NCIT_C190588 @default.
- NCIT_C98964 NCIT_R176 NCIT_C21281 @default.
- NCIT_C98964 NCIT_R176 NCIT_C25939 @default.
- NCIT_C98964 normalizedInformationContent "100" @default.
- NCIT_C98964 referenceCount "1" @default.
- NCIT_C98964 hasExactSynonym "Isovaleric Acidemia" @default.
- NCIT_C98964 hasExactSynonym "Isovalericacidemia" @default.
- NCIT_C98964 hasExactSynonym "Isovaleryl-CoA Dehydrogenase Deficiency" @default.
- NCIT_C98964 inSubset NCIT_C165258 @default.
- NCIT_C98964 inSubset NCIT_C192842 @default.
- NCIT_C98964 inSubset NCIT_C90259 @default.
- NCIT_C98964 inSubset NCIT_C99147 @default.
- NCIT_C98964 type Class @default.
- NCIT_C98964 isDefinedBy ncit.owl @default.
- NCIT_C98964 label "Isovaleric Acidemia" @default.
- NCIT_C98964 subClassOf B8470d36b4a929635931b2a8afae13b3e @default.
- NCIT_C98964 subClassOf B89e25adbecab62d8fa535996b9a3231f @default.
- NCIT_C98964 subClassOf NCIT_C101334 @default.
- NCIT_C98964 subClassOf NCIT_C2991 @default.
- NCIT_C98964 subClassOf NCIT_C3235 @default.
- NCIT_C98964 subClassOf NCIT_C34816 @default.
- NCIT_C98964 subClassOf NCIT_C53529 @default.
- NCIT_C98964 subClassOf NCIT_C53547 @default.
- NCIT_C98964 subClassOf NCIT_C7057 @default.
- NCIT_C98964 subClassOf NCIT_C98964 @default.