Severe Congenital Neutropenia Type 6, Autosomal Recessive

Preferred Label : Severe Congenital Neutropenia Type 6, Autosomal Recessive;

NCIt synonyms : Neutropenia, Severe Congenital, 6, Autosomal Recessive; SCN6;

NCIt related terms : SCN 6-Autosomal Recessive;

NCIt definition : Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the JAGN1 gene, encoding protein jagunal homolog 1.;

Details

Origin ID

C176602;

UMLS CUI

C4014954;

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]
- Neutropenia, severe congenital, 6, autosomal recessive [OMIM Phenotype]
- severe congenital neutropenia 6 [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
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]
- Neutropenia, severe congenital, 6, autosomal recessive [OMIM Phenotype]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
related_to_genetic_biomarker
- JAGN1 Gene [NCIt concept]

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