Erythrocytosis, familial, 5

Preferred Label : Erythrocytosis, familial, 5;

Symbol : ECYT5;

CISMeF acronym : ECYT5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the erythropoietin gene (EPO, 133170.0002);

Laboratory abnormalities : Increased serum EPO levels;

Prefixed ID : #617907;

Details

Origin ID

617907;

UMLS CUI

C4693552;

Automatic exact mappings (from CISMeF team)
- familial erythrocytosis 5 [DO Concept]
DO Cross reference
- familial erythrocytosis 5 [DO Concept]
Genes related to phenotype
- Erythropoietin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Increased hematocrit [HPO term]
- Increased hemoglobin [HPO term]
- Polycythemia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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