Neutropenia, severe congenital, 6, autosomal recessive

Preferred Label : Neutropenia, severe congenital, 6, autosomal recessive;

Symbol : SCN6;

CISMeF acronym : SCN6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the jagunal homolog 1 gene (JAGN1, 616012.0001);

Prefixed ID : #616022;

Details

Origin ID

616022;

UMLS CUI

C4014954;

Automatic exact mappings (from CISMeF team)
- JAGN1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal recessive severe congenital neutropaenia due to JAGN1 deficiency [ICD-11 More detail]
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [ORDO Disease]
- Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder) [SNOMED CT concept]
- Severe Congenital Neutropenia Type 6, Autosomal Recessive [NCIt concept]
- severe congenital neutropenia 6 [DO Concept]
Genes related to phenotype
- Jagunal homolog 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Neutropenia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive severe congenital neutropaenia due to JAGN1 deficiency [ICD-11 More detail]
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [ORDO Disease]
- Severe Congenital Neutropenia Type 6, Autosomal Recessive [NCIt concept]

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