Diamond-blackfan anemia-like

Preferred Label : Diamond-blackfan anemia-like;

Symbol : DBAL;

CISMeF acronym : DBAL;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the erythropoietin gene (EPO, 133170.0004);

Laboratory abnormalities : Increased serum erythropoietin (EPO);

Prefixed ID : #617911;

Details

Origin ID

617911;

UMLS CUI

C4693556;

Genes related to phenotype
- Erythropoietin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Infantile onset [HPO term]
- Pure red cell aplasia [HPO term]
- Steroid-responsive anemia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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