Severe Congenital Neutropenia Type 1, Autosomal Dominant

Preferred Label : Severe Congenital Neutropenia Type 1, Autosomal Dominant;

NCIt synonyms : SCN1; Neutropenia, Severe Congenital, 1, Autosomal Dominant;

NCIt related terms : Severe Congenital neutropenia (SCN) 1 - Includes cyclic neutropenia;

NCIt definition : Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the ELANE gene, encoding neutrophil elastase;

Détails

Origin ID

C176827;

UMLS CUI

C1859966;

Currated CISMeF NLP mapping
- Neutropenia, severe congenital, 1, autosomal dominant [OMIM Phenotype]
- neutropenia, severe congenital, autosomal dominant 1 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal dominant 1 [MeSH concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutropenia, severe congenital, 1, autosomal dominant [OMIM Phenotype]
- neutropenia, severe congenital, autosomal dominant 1 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal dominant 1 [MeSH concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- ELANE Gene [NCIt concept]
- GFI1 Gene [NCIt concept]

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

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