Autosomal recessive severe congenital neutropaenia due to JAGN1 deficiency

Preferred Label : Autosomal recessive severe congenital neutropaenia due to JAGN1 deficiency;

Origin ID

379753289;

UMLS CUI

C4014954;

Currated CISMeF NLP mapping
- 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]
- Neutropenia, severe congenital, 6, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia Type 6, Autosomal Recessive [NCIt concept]
- severe congenital neutropenia 6 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [ORDO Disease]
- Neutropenia, severe congenital, 6, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia Type 6, Autosomal Recessive [NCIt concept]