Neutropenia, severe congenital, 7, autosomal recessive

Preferred Label : Neutropenia, severe congenital, 7, autosomal recessive;

Symbol : SCN7;

CISMeF acronym : SCN7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the colony-stimulating factor 3 receptor, granulocyte gene (CSF3R, 138971.0001);

Prefixed ID : #617014;

Details

Origin ID

617014;

UMLS CUI

C4310764;

Automatic exact mappings (from CISMeF team)
- CSF3R wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [ORDO Disease]
- Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder) [SNOMED CT concept]
- Severe Congenital Neutropenia Type 7, Autosomal Recessive [NCIt concept]
- severe congenital neutropenia 7 [DO Concept]
Genes related to phenotype
- Colony-stimulating factor 3 receptor, granulocyte [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Neutropenia [HPO term]
- Recurrent infections [HPO term]
ORDO concept(s)
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [ORDO Disease]
- Severe Congenital Neutropenia Type 7, Autosomal Recessive [NCIt concept]

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