Human Phenotype Ontology 
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..expandElevated circulating erythropoietin concentration (HP:0033644)help
Term ID: 33644
Name: Elevated circulating erythropoietin concentration
Synonym: Elevated circulating erythropoietin
Definition: Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.
Comments:
Reference: HP:0033644
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033644HP:0033644Elevated circulating erythropoietin concentration0EPAS1 CL E G H20343374OMIM:611783ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4112
HP:0033644HP:0033644Elevated circulating erythropoietin concentration0EPO CL E G H20563415OMIM:617907Erythrocytosis, familial, 51
HP:0033644HP:0033644Elevated circulating erythropoietin concentration0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2490


Genes (3) :EPAS1 EPO VHL

Diseases (3) :OMIM:611783 OMIM:617907 OMIM:263400
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.