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- NCIT_C98944 IAO_0000115 "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." @default.
- NCIT_C98944 NCIT_NHC0 "C98944" @default.
- NCIT_C98944 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C98944 NCIT_P108 "Hereditary Orotic Aciduria" @default.
- NCIT_C98944 NCIT_P207 "C0220987" @default.
- NCIT_C98944 NCIT_P322 "Cellosaurus" @default.
- NCIT_C98944 NCIT_P322 "NICHD" @default.
- NCIT_C98944 NCIT_R176 NCIT_C16612 @default.
- NCIT_C98944 NCIT_R176 NCIT_C190409 @default.
- NCIT_C98944 NCIT_R176 NCIT_C21281 @default.
- NCIT_C98944 NCIT_R176 NCIT_C21282 @default.
- NCIT_C98944 NCIT_R176 NCIT_C25870 @default.
- NCIT_C98944 NCIT_R176 NCIT_C26147 @default.
- NCIT_C98944 normalizedInformationContent "100" @default.
- NCIT_C98944 referenceCount "1" @default.
- NCIT_C98944 hasExactSynonym "Hereditary Orotic Aciduria" @default.
- NCIT_C98944 inSubset NCIT_C165258 @default.
- NCIT_C98944 inSubset NCIT_C192842 @default.
- NCIT_C98944 inSubset NCIT_C90259 @default.
- NCIT_C98944 inSubset NCIT_C99147 @default.
- NCIT_C98944 type Class @default.
- NCIT_C98944 isDefinedBy ncit.owl @default.
- NCIT_C98944 label "Hereditary Orotic Aciduria" @default.
- NCIT_C98944 subClassOf B425627464a8f147b5f77e2c0999c2179 @default.
- NCIT_C98944 subClassOf Be3bcbea19f5167a1a3c5de29d004a683 @default.
- NCIT_C98944 subClassOf NCIT_C2991 @default.
- NCIT_C98944 subClassOf NCIT_C3235 @default.
- NCIT_C98944 subClassOf NCIT_C34816 @default.
- NCIT_C98944 subClassOf NCIT_C4873 @default.
- NCIT_C98944 subClassOf NCIT_C53529 @default.
- NCIT_C98944 subClassOf NCIT_C53543 @default.
- NCIT_C98944 subClassOf NCIT_C53547 @default.
- NCIT_C98944 subClassOf NCIT_C7057 @default.
- NCIT_C98944 subClassOf NCIT_C98944 @default.