Fanconi Anemia, Complementation Group D1

Preferred Label : Fanconi Anemia, Complementation Group D1;

NCIt definition : Fanconi anemia caused by mutations of the BRCA2 gene.;

Origin ID

C125705;

UMLS CUI

C1838457;

Currated CISMeF NLP mapping
- Fanconi anemia complementation group D1 [DO Concept]
- Fanconi anemia, complementation group d1 [OMIM Phenotype]
- fanconi anemia, complementation group D1 [MeSH Supplementary Concept]
- fanconi anemia, complementation group D1 [MeSH concept]
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 D1 [DO Concept]
- Fanconi anemia, complementation group d1 [OMIM Phenotype]
- fanconi anemia, complementation group D1 [MeSH Supplementary Concept]
- fanconi anemia, complementation group D1 [MeSH concept]
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
- BRCA2 Gene Mutation [NCIt concept]
- Fanconi Anemia Complementation Group Gene Mutation [NCIt concept]
disease_mapped_to_gene
- BRCA2 Gene [NCIt concept]
disease_may_have_associated_disease
- Myelodysplastic Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- BRCA2 Gene [NCIt concept]
- BRCA2 wt Allele [NCIt concept]
related_to_genetic_biomarker
- BRCA2 Gene [NCIt concept]