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- NCIT_C84546 IAO_0000115 "A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in the blood of homogentisic acid which is excreted in the urine. The presence of homogentisic acid in the urine causes its color to turn black. The excessive amount of homogentisic acid in the blood may cause damage to cartilage and heart valves, and may result in the formation of kidney stones." @default.
- NCIT_C84546 NCIT_NHC0 "C84546" @default.
- NCIT_C84546 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84546 NCIT_P108 "Alkaptonuria" @default.
- NCIT_C84546 NCIT_P207 "C0002066" @default.
- NCIT_C84546 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84546 normalizedInformationContent "100" @default.
- NCIT_C84546 referenceCount "1" @default.
- NCIT_C84546 hasExactSynonym "Alkaptonuria" @default.
- NCIT_C84546 inSubset NCIT_C165258 @default.
- NCIT_C84546 inSubset NCIT_C192842 @default.
- NCIT_C84546 type Class @default.
- NCIT_C84546 isDefinedBy ncit.owl @default.
- NCIT_C84546 label "Alkaptonuria" @default.
- NCIT_C84546 subClassOf NCIT_C2991 @default.
- NCIT_C84546 subClassOf NCIT_C3235 @default.
- NCIT_C84546 subClassOf NCIT_C34816 @default.
- NCIT_C84546 subClassOf NCIT_C4873 @default.
- NCIT_C84546 subClassOf NCIT_C53529 @default.
- NCIT_C84546 subClassOf NCIT_C53543 @default.
- NCIT_C84546 subClassOf NCIT_C53547 @default.
- NCIT_C84546 subClassOf NCIT_C7057 @default.
- NCIT_C84546 subClassOf NCIT_C84546 @default.
- NCIT_C84546 subClassOf NCIT_C97090 @default.