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- NCIT_C156424 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the SCL46A1 gene, encoding proton-coupled folate transporter. It is characterized by low concentrations of folate resulting in megaloblastic anemia, immune deficiency, and neurologic deficits." @default.
- NCIT_C156424 NCIT_NHC0 "C156424" @default.
- NCIT_C156424 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C156424 NCIT_P108 "Hereditary Folate Malabsorption" @default.
- NCIT_C156424 NCIT_P207 "C0342705" @default.
- NCIT_C156424 NCIT_P322 "Cellosaurus" @default.
- NCIT_C156424 NCIT_R176 NCIT_C107466 @default.
- NCIT_C156424 NCIT_R176 NCIT_C16612 @default.
- NCIT_C156424 NCIT_R176 NCIT_C21295 @default.
- NCIT_C156424 NCIT_R176 NCIT_C28533 @default.
- NCIT_C156424 normalizedInformationContent "100" @default.
- NCIT_C156424 referenceCount "1" @default.
- NCIT_C156424 hasExactSynonym "Hereditary Folate Malabsorption" @default.
- NCIT_C156424 inSubset NCIT_C165258 @default.
- NCIT_C156424 inSubset NCIT_C192842 @default.
- NCIT_C156424 type Class @default.
- NCIT_C156424 isDefinedBy ncit.owl @default.
- NCIT_C156424 label "Hereditary Folate Malabsorption" @default.
- NCIT_C156424 subClassOf B120cb9e44794e9359912b0004552acdf @default.
- NCIT_C156424 subClassOf Bb454e8387043bc2d7d7a9ff233ff3b81 @default.
- NCIT_C156424 subClassOf NCIT_C156424 @default.
- NCIT_C156424 subClassOf NCIT_C2991 @default.
- NCIT_C156424 subClassOf NCIT_C4873 @default.
- NCIT_C156424 subClassOf NCIT_C53529 @default.
- NCIT_C156424 subClassOf NCIT_C53543 @default.
- NCIT_C156424 subClassOf NCIT_C53547 @default.
- NCIT_C156424 subClassOf NCIT_C7057 @default.