Severe Congenital Neutropenia Type 2, Autosomal Dominant

Preferred Label : Severe Congenital Neutropenia Type 2, Autosomal Dominant;

NCIt synonyms : SCN2; Neutropenia, Severe Congenital, 2, Autosomal Dominant;

NCIt related terms : SCN 2-Autosomal Dominant;

NCIt definition : Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the GFI1 gene, encoding zinc finger protein Gfi-1.;

Details

Origin ID

C176610;

UMLS CUI

C2751288;

Automatic exact mappings (from CISMeF team)
- severe congenital neutropenia 2 [DO Concept]
Currated CISMeF NLP mapping
- Neutropenia, severe congenital, 2, autosomal dominant [OMIM Phenotype]
- neutropenia, severe congenital, autosomal dominant 2 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal dominant 2 [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, 2, autosomal dominant [OMIM Phenotype]
- neutropenia, severe congenital, autosomal dominant 2 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal dominant 2 [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]
related_to_genetic_biomarker
- GFI1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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