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- NCIT_C3035 IAO_0000115 "Fanconi anemia (FA) is an autosomal recessive genetic disorder characterised clinically by progressive bone marrow failure, skeletal deformities and a predisposition to neoplasia. Patient cells manifest an extreme chromosomal instability and hypersensitivity to polyfunctional alkylating agents. It is assumed that the basic defect is related to the repair of DNA damage, in particular that of so-called DNA crosslinks. Currently there are eight complementation groups in FA (FA-A-FA-H) which indicates that at least eight independent genes can lead to FA. Three of these genes have been identified: FANCA, FANCC and FANCG. (from PMID 10472548)" @default.
- NCIT_C3035 NCIT_NHC0 "C3035" @default.
- NCIT_C3035 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C3035 NCIT_P108 "Fanconi's Anemia" @default.
- NCIT_C3035 NCIT_P200 "Fanconi Syndrome" @default.
- NCIT_C3035 NCIT_P203 "Findings_and_Disorders_Kind" @default.
- NCIT_C3035 NCIT_P310 "Retired_Concept" @default.
- NCIT_C3035 NCIT_P325 "A rare and often fatal inherited disease in which the bone marrow fails to produce red blood cells, white blood cells, platelets, or a combination of these cells. The disease may transform into myelodysplastic syndrome or leukemia. Also called Fanconi's syndrome." @default.
- NCIT_C3035 normalizedInformationContent "100" @default.
- NCIT_C3035 referenceCount "1" @default.
- NCIT_C3035 hasExactSynonym "Fanconi Anemia" @default.
- NCIT_C3035 hasExactSynonym "Fanconi's Anemia" @default.
- NCIT_C3035 hasExactSynonym "Fanconi's anemia" @default.
- NCIT_C3035 type Class @default.
- NCIT_C3035 isDefinedBy ncit.owl @default.
- NCIT_C3035 label "Fanconi's Anemia" @default.
- NCIT_C3035 subClassOf NCIT_C28428 @default.
- NCIT_C3035 subClassOf NCIT_C3035 @default.
- NCIT_C3035 subClassOf NCIT_C83480 @default.
- NCIT_C3035 deprecated "true" @default.