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Familial Erythrocytosis 7

Disease ID: disease_node_15329

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DbxrefMIM:617981
SubclassofDOID_10780
Data SourceDOID
SynonymsECYT7, alpha-globin type erythrocytosis, alpha-globin type polycythemia
Doid Labelfamilial erythrocytosis 7
Doid DescriptionA primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.
Disease Node Iddisease_node_15329
Doid IdDOID_0111631
LabelFamilial Erythrocytosis 7