Erythrocytosis, familial, 4

Preferred Label : Erythrocytosis, familial, 4;

Symbol : ECYT4;

CISMeF acronym : ECYT4;

Type : Phenotype, molecular basis known;

Description : Familial erythrocytosis-4 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration and elevated serum erythropoietin (EPO; 133170).;

Prefixed ID : #611783;

Details

Origin ID

611783;

UMLS CUI

C2673187;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant secondary polycythemia [ORDO Disease]
- EPAS1 wt Allele [NCIt concept]
- familial erythrocytosis 4 [DO Concept]
Currated CISMeF NLP mapping
- erythrocytosis, familial, 4 [MeSH concept]
- erythrocytosis, familial, 4 [MeSH Supplementary Concept]
DO Cross reference
- familial erythrocytosis 4 [DO Concept]
Genes related to phenotype
- Endothelial pas domain protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Deep venous thrombosis [HPO term]
- Elevated circulating erythropoietin concentration [HPO term]
- Increased hematocrit [HPO term]
- Increased hemoglobin [HPO term]
- Mesenteric venous thrombosis [HPO term]
- Polycythemia [HPO term]
- Pruritus [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Autosomal dominant secondary polycythemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- erythrocytosis, familial, 4 [MeSH Supplementary Concept]
- erythrocytosis, familial, 4 [MeSH concept]

Keyword's position in hierarchy(ies) :

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