Reticular dysgenesis

Preferred Label : Reticular dysgenesis;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Severe combined immunodeficiency with leukopenia; Congenital aleukia; ALEUKOCYTOSIS; De vaal disease; Hematopoietic hypoplasia, generalized; Reticular dysgenesia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenylate kinase-2 gene (AK2, 103020.0001);

Prefixed ID : #267500;

Details

Origin ID

267500;

UMLS CUI

C0272167;

Currated CISMeF NLP mapping
- Reticular Dysgenesis [NCIt concept]
- Reticular dysgenesis [MeSH concept]
- Reticular dysgenesis [ORDO Disease]
- Reticular dysgenesis (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency [SCID] with reticular dysgenesis [ICD-10 Sub-category]
- Severe combined immunodeficiency with reticular dysgenesis [ICD-11 More detail]
- reticular dysgenesis [DO Concept]
- reticular dysgenesis [Disease (Nov.)]
- reticular dysgenesis [MeSH Supplementary Concept]
- reticular dysgenesis [SNOMED Notion]
DO Cross reference
- reticular dysgenesis [DO Concept]
Genes related to phenotype
- Adenylate kinase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Combined immunodeficiency [HPO term]
- Congenital agranulocytosis [HPO term]
- Hypoplasia of the thymus [HPO term]
- Impaired T cell function [HPO term]
- Lack of T cell function [HPO term]
- Leukopenia [HPO term]
- Lymphopenia [HPO term]
- Sepsis [HPO term]
ORDO concept(s)
- Reticular dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Reticular Dysgenesis [NCIt concept]
- Reticular dysgenesis [ORDO Disease]
- Reticular dysgenesis [MeSH concept]
- Reticular dysgenesis (disorder) [SNOMED CT concept]
- reticular dysgenesis [MeSH Supplementary Concept]
- reticular dysgenesis [SNOMED Notion]
- reticular dysgenesis [DO Concept]
- reticular dysgenesis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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