Fanconi Anemia, Complementation Group N

Preferred Label : Fanconi Anemia, Complementation Group N;

NCIt definition : Fanconi anemia caused by mutation(s) in the PALB2 gene, encoding partner and localizer of BRCA2.;

Détails

Origin ID

C176894;

UMLS CUI

C1835817;

Automatic exact mappings (from CISMeF team)
- partner and localizer of BRCA2 [ORDO Gene]
Currated CISMeF NLP mapping
- Fanconi anemia complementation group N [DO Concept]
- Fanconi anemia, complementation group n [OMIM Phenotype]
- fanconi anemia, complementation group N [MeSH concept]
- fanconi anemia, complementation group N [MeSH Supplementary 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 n [OMIM Phenotype]
- fanconi anemia, complementation group N [MeSH Supplementary Concept]
- fanconi anemia, complementation group N [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
- Fanconi Anemia Complementation Group Gene Mutation [NCIt concept]
- PALB2 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- PALB2 Gene [NCIt concept]
disease_may_have_associated_disease
- Myelodysplastic Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- PALB2 Gene [NCIt concept]
- PALB2 wt Allele [NCIt concept]
related_to_genetic_biomarker
- PALB2 Gene [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients