Fanconi Anemia, Complementation Group O

Preferred Label : Fanconi Anemia, Complementation Group O;

NCIt synonyms : FANCO;

NCIt definition : Fanconi anemia caused by autosomal recessive mutation(s) in the RAD51C gene, encoding DNA repair protein RAD51 homolog 3.;

Détails

Origin ID

C176910;

UMLS CUI

C3150653;

Automatic exact mappings (from CISMeF team)
- RAD51 paralog C [ORDO Gene]
Currated CISMeF NLP mapping
- Fanconi anemia complementation group O [DO Concept]
- Fanconi anemia, complementation group o [OMIM Phenotype]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi anemia, complementation group o [OMIM Phenotype]
disease_has_associated_disease
- Anemia [NCIt concept]
disease_has_finding
- Bone Marrow Failure [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Fanconi Anemia Complementation Group Gene Mutation [NCIt concept]
- RAD51C Gene Mutation [NCIt concept]
disease_mapped_to_gene
- RAD51C Gene [NCIt concept]
disease_may_have_associated_disease
- Myelodysplastic Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- RAD51C Gene [NCIt concept]
- RAD51C wt Allele [NCIt concept]
related_to_genetic_biomarker
- RAD51C Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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