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- NCIT_C183524 IAO_0000115 "An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMADHC gene, encoding cobalamin trafficking protein CblD." @default.
- NCIT_C183524 NCIT_NHC0 "C183524" @default.
- NCIT_C183524 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C183524 NCIT_P108 "Methylmalonic Aciduria and Homocystinuria, cblD Type" @default.
- NCIT_C183524 NCIT_P207 "C2678262" @default.
- NCIT_C183524 NCIT_P322 "Cellosaurus" @default.
- NCIT_C183524 NCIT_R176 NCIT_C16612 @default.
- NCIT_C183524 NCIT_R176 NCIT_C20194 @default.
- NCIT_C183524 NCIT_R176 NCIT_C74465 @default.
- NCIT_C183524 normalizedInformationContent "100" @default.
- NCIT_C183524 referenceCount "1" @default.
- NCIT_C183524 hasExactSynonym "MAHCD" @default.
- NCIT_C183524 hasExactSynonym "Methylmalonic Aciduria and Homocystinuria, cblD Type" @default.
- NCIT_C183524 inSubset NCIT_C165258 @default.
- NCIT_C183524 inSubset NCIT_C192842 @default.
- NCIT_C183524 type Class @default.
- NCIT_C183524 isDefinedBy ncit.owl @default.
- NCIT_C183524 label "Methylmalonic Aciduria and Homocystinuria, cblD Type" @default.
- NCIT_C183524 subClassOf B1fa1ae38aa15aeefbe82d059147c5b53 @default.
- NCIT_C183524 subClassOf B5441a8dea81aa7e785f4fdca08def072 @default.
- NCIT_C183524 subClassOf NCIT_C183524 @default.
- NCIT_C183524 subClassOf NCIT_C2991 @default.
- NCIT_C183524 subClassOf NCIT_C3235 @default.
- NCIT_C183524 subClassOf NCIT_C34816 @default.
- NCIT_C183524 subClassOf NCIT_C4873 @default.
- NCIT_C183524 subClassOf NCIT_C53529 @default.
- NCIT_C183524 subClassOf NCIT_C53543 @default.
- NCIT_C183524 subClassOf NCIT_C53547 @default.
- NCIT_C183524 subClassOf NCIT_C7057 @default.
- NCIT_C183524 subClassOf NCIT_C98986 @default.