Fanconi Anemia, Complementation Group I

Preferred Label : Fanconi Anemia, Complementation Group I;

NCIt definition : Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.;

Détails

Origin ID

C129026;

UMLS CUI

C1836861;

Currated CISMeF NLP mapping
- Fanconi anemia complementation group I [DO Concept]
- Fanconi anemia, complementation group I [OMIM Phenotype]
- fanconi anemia, complementation group I [MeSH concept]
- fanconi anemia, complementation group I [MeSH Supplementary Concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- FA complementation group I [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi anemia, complementation group I [OMIM Phenotype]
- fanconi anemia, complementation group I [MeSH Supplementary Concept]
- fanconi anemia, complementation group I [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease 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
- FANCI Gene Mutation [NCIt concept]
- Fanconi Anemia Complementation Group Gene Mutation [NCIt concept]
disease_mapped_to_gene
- FANCI Gene [NCIt concept]
disease_may_have_associated_disease
- Myelodysplastic Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- FANCI Gene [NCIt concept]
- FANCI wt Allele [NCIt concept]
related_to_genetic_biomarker
- FANCI Gene [NCIt concept]

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

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