Fanconi Anemia, Complementation Group J

Preferred Label : Fanconi Anemia, Complementation Group J;

NCIt definition : Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.;

Details

Origin ID

C129027;

UMLS CUI

C1836860;

Automatic exact mappings (from CISMeF team)
- Fanconi anemia, Complementation group C [OMIM Phenotype]
- Fanconi anemia, complementation group L [OMIM Phenotype]
- Fanconi anemia, complementation group n [OMIM Phenotype]
- Fanconi anemia, complementation group t [OMIM Phenotype]
- fanconi anemia, complementation group N [MeSH concept]
- fanconi anemia, complementation group N [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Fanconi anemia complementation group J [DO Concept]
- Fanconi anemia, complementation group j [OMIM Phenotype]
- fanconi anemia, complementation group J [MeSH concept]
- fanconi anemia, complementation group J [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 J [DO Concept]
- Fanconi anemia, complementation group j [OMIM Phenotype]
- fanconi anemia, complementation group J [MeSH Supplementary Concept]
- fanconi anemia, complementation group J [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
- BRIP1 Gene Mutation [NCIt concept]
- Fanconi Anemia Complementation Group Gene Mutation [NCIt concept]
disease_mapped_to_gene
- BRIP1 Gene [NCIt concept]
disease_may_have_associated_disease
- Myelodysplastic Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- BRIP1 Gene [NCIt concept]
- BRIP1 wt Allele [NCIt concept]
related_to_genetic_biomarker
- BRIP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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