Autosomal recessive severe congenital neutropaenia due to G6PC3 deficiency

Preferred Label : Autosomal recessive severe congenital neutropaenia due to G6PC3 deficiency;

Origin ID

780511169;

Currated CISMeF NLP mapping
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [ORDO Disease]
- Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) [SNOMED CT concept]
- Dursun syndrome [ORDO Disease]
- Neutropenia, severe congenital, 4, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia Type 4, Autosomal Recessive [NCIt concept]
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [Disease (Nov.)]
- dursun syndrome [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH Supplementary Concept]
- severe congenital neutropenia 4 [DO Concept]