Fanconi Anemia, Complementation Group C

Preferred Label : Fanconi Anemia, Complementation Group C;

NCIt definition : Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.;

Details

Origin ID

C125704;

UMLS CUI

C3468041;

Automatic exact mappings (from CISMeF team)
- Fanconi anemia, complementation group L [OMIM Phenotype]
- Fanconi anemia, complementation group j [OMIM Phenotype]
- Fanconi anemia, complementation group n [OMIM Phenotype]
- Fanconi anemia, complementation group t [OMIM Phenotype]
- fanconi anemia, complementation group J [MeSH Supplementary Concept]
- fanconi anemia, complementation group N [MeSH concept]
- fanconi anemia, complementation group N [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Fanconi anemia complementation group C [DO Concept]
- Fanconi anemia, Complementation group C [OMIM Phenotype]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- FA complementation group C [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi anemia complementation group C [DO Concept]
- Fanconi anemia, Complementation group C [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_disease
- Anemia [NCIt concept]
disease_has_finding
- Bone Marrow Failure [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- FANCC Gene Mutation [NCIt concept]
- Fanconi Anemia Complementation Group Gene Mutation [NCIt concept]
disease_mapped_to_gene
- FANCC Gene [NCIt concept]
disease_may_have_associated_disease
- Myelodysplastic Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- FANCC Gene [NCIt concept]
- FANCC wt Allele [NCIt concept]
related_to_genetic_biomarker
- FANCC Gene [NCIt concept]

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