Neutrophilia, hereditary

Preferred Label : Neutrophilia, hereditary;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

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

Prefixed ID : #162830;

Détails

Origin ID

162830;

UMLS CUI

C0543669;

Currated CISMeF NLP mapping
- Hereditary neutrophilia [ORDO Disease]
- Hereditary neutrophilia (disorder) [SNOMED CT concept]
- hereditary neutrophilia [DO Concept]
- neutrophilia, hereditary [MeSH concept]
- neutrophilia, hereditary [MeSH Supplementary Concept]
DO Cross reference
- hereditary neutrophilia [DO Concept]
Genes related to phenotype
- Colony-stimulating factor 3 receptor, granulocyte [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated leukocyte alkaline phosphatase [HPO term]
- Hepatosplenomegaly [HPO term]
- Myelodysplasia [HPO term]
- Myelodysplastic syndrome [HPO term]
- Neutrophilia [HPO term]
- Thickened calvaria [HPO term]
ORDO concept(s)
- Hereditary neutrophilia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary neutrophilia [ORDO Disease]
- Hereditary neutrophilia (disorder) [SNOMED CT concept]
- hereditary neutrophilia [DO Concept]
- neutrophilia, hereditary [MeSH Supplementary Concept]
- neutrophilia, hereditary [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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