Erythrocytosis, familial, 3

Preferred Label : Erythrocytosis, familial, 3;

Symbol : ECYT3;

CISMeF acronym : ECYT3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the egl-9 family hypoxia inducible factor 1 gene (EGLN1, 606425.0001);

Laboratory abnormalities : Normal serum erythropoietin (EPO, 133170);

Prefixed ID : #609820;

Details

Origin ID

609820;

UMLS CUI

C1853286;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant secondary polycythemia [ORDO Disease]
- EGLN1 wt Allele [NCIt concept]
- familial erythrocytosis 3 [DO Concept]
Currated CISMeF NLP mapping
- erythrocytosis, familial, 3 [MeSH concept]
- erythrocytosis, familial, 3 [MeSH Supplementary Concept]
DO Cross reference
- familial erythrocytosis 3 [DO Concept]
Genes related to phenotype
- Egl9 family hypoxia-inducible factor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Increased hematocrit [HPO term]
- Increased hemoglobin [HPO term]
- Increased red blood cell mass [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, 3 [MeSH Supplementary Concept]
- erythrocytosis, familial, 3 [MeSH concept]

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