Neutropenia, severe congenital, 2, autosomal dominant

Preferred Label : Neutropenia, severe congenital, 2, autosomal dominant;

Symbol : SCN2;

CISMeF acronym : SCN2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth factor-independent 1 gene (GFI1, 600871.0001);

Prefixed ID : #613107;

Details

Origin ID

613107;

UMLS CUI

C2751288;

Automatic exact mappings (from CISMeF team)
- GFI1 wt Allele [NCIt concept]
- crigler najjar syndrome, type 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Severe Congenital Neutropenia Type 2, Autosomal Dominant [NCIt concept]
- neutropenia, severe congenital, autosomal dominant 2 [MeSH concept]
- neutropenia, severe congenital, autosomal dominant 2 [MeSH Supplementary Concept]
False automatic mappings
- Crigler-Najjar syndrome type 2 [ICD-11 More detail]
Genes related to phenotype
- Growth factor-independent 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Monocytosis [HPO term]
- Neutropenia [HPO term]
- obsolete Congenital neutropenia [HPO term]
ORDO concept(s)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe Congenital Neutropenia Type 2, Autosomal Dominant [NCIt concept]
- neutropenia, severe congenital, autosomal dominant 2 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal dominant 2 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant severe congenital neutropenia [ORDO Disease]

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