Anemia, sideroblastic, 4

Preferred Label : Anemia, sideroblastic, 4;

Symbol : SIDBA4;

CISMeF acronym : SIDBA4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant (another allele in trans may be required);

Molecular basis : Caused by mutation in the heat-shock 70-kd protein-9 gene (HSPA9, 600548.0001);

Prefixed ID : #182170;

Détails

Origin ID

182170;

UMLS CUI

C4225428;

Automatic exact mappings (from CISMeF team)
- Constitutional sideroblastic anemia [ORDO Disease]
Broader ORDO disease(s)
- Constitutional sideroblastic anemia [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant sideroblastic anaemia [ICD-11 More detail]
- Autosomal dominant sideroblastic anemia (disorder) [SNOMED CT concept]
- anemia, sideroblastic, autosomal dominant [MeSH concept]
- anemia, sideroblastic, autosomal dominant [MeSH Supplementary Concept]
- autosomal dominant sideroblastic anemia 4 [DO Concept]
DO Cross reference
- autosomal dominant sideroblastic anemia 4 [DO Concept]
Genes related to phenotype
- Heat-shock 70-kd protein 9 [OMIM gene]
HPO term(s)
- Abnormal erythrocyte morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Refractory anemia with ringed sideroblasts [HPO term]
- Sideroblastic anemia [HPO term]
ORDO concept(s)
- Autosomal recessive sideroblastic anemia [ORDO Disease]
- Sideroblastic anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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