Anemia, congenital, nonspherocytic hemolytic, 3

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 3;

Symbol : CNSHA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adenylate kinase deficiency, hemolytic anemia due to;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenylate kinase-1 gene (AK1, 103000.0001);

Prefixed ID : #612631;

Details

Origin ID

612631;

UMLS CUI

C2675459;

Currated CISMeF NLP mapping
- Haemolytic anaemia due to adenylate kinase deficiency [ICD-11 More detail]
- Hemolytic anemia due to adenylate kinase deficiency [ORDO Disease]
- Hemolytic anemia due to adenylate kinase deficiency (disorder) [SNOMED CT concept]
- adenylate kinase deficiency, hemolytic anemia due to [MeSH concept]
- adenylate kinase deficiency, hemolytic anemia due to [MeSH Supplementary Concept]
DO Cross reference
- hemolytic anemia [DO Concept]
Genes related to phenotype
- Adenylate kinase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hemolytic anemia [HPO term]
ORDO concept(s)
- Hemolytic anemia due to adenylate kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Haemolytic anaemia due to adenylate kinase deficiency [ICD-11 More detail]
- Hemolytic anemia due to adenylate kinase deficiency [ORDO Disease]
- Hemolytic anemia due to adenylate kinase deficiency (disorder) [SNOMED CT concept]
- adenylate kinase deficiency, hemolytic anemia due to [MeSH Supplementary Concept]
- adenylate kinase deficiency, hemolytic anemia due to [MeSH concept]

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