Erythrocytosis, familial, 6

Preferred Label : Erythrocytosis, familial, 6;

Symbol : ECYT6;

CISMeF acronym : ECYT6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Erythrocytosis, beta-globin type; Polycythemia, beta-globin type;

Prefixed ID : #617980;

Details

Origin ID

617980;

UMLS CUI

C4693822;

Automatic exact mappings (from CISMeF team)
- HBB wt Allele [NCIt concept]
- familial erythrocytosis 6 [DO Concept]
DO Cross reference
- familial erythrocytosis 6 [DO Concept]
Genes related to phenotype
- Hemoglobin--beta locus [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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