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- NCIT_C85030 IAO_0000115 "A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy." @default.
- NCIT_C85030 NCIT_NHC0 "C85030" @default.
- NCIT_C85030 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C85030 NCIT_P108 "Propionic Acidemia" @default.
- NCIT_C85030 NCIT_P207 "C0268579" @default.
- NCIT_C85030 NCIT_P322 "Cellosaurus" @default.
- NCIT_C85030 NCIT_P322 "NICHD" @default.
- NCIT_C85030 normalizedInformationContent "100" @default.
- NCIT_C85030 referenceCount "1" @default.
- NCIT_C85030 hasExactSynonym "Propionic Acidemia" @default.
- NCIT_C85030 inSubset NCIT_C165258 @default.
- NCIT_C85030 inSubset NCIT_C192842 @default.
- NCIT_C85030 inSubset NCIT_C90259 @default.
- NCIT_C85030 inSubset NCIT_C99147 @default.
- NCIT_C85030 type Class @default.
- NCIT_C85030 isDefinedBy ncit.owl @default.
- NCIT_C85030 label "Propionic Acidemia" @default.
- NCIT_C85030 subClassOf NCIT_C101334 @default.
- NCIT_C85030 subClassOf NCIT_C2991 @default.
- NCIT_C85030 subClassOf NCIT_C3235 @default.
- NCIT_C85030 subClassOf NCIT_C34816 @default.
- NCIT_C85030 subClassOf NCIT_C53529 @default.
- NCIT_C85030 subClassOf NCIT_C53547 @default.
- NCIT_C85030 subClassOf NCIT_C7057 @default.
- NCIT_C85030 subClassOf NCIT_C85030 @default.