WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111630 familial erythrocytosis 8 Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.
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1 Ontology

Name
Disease Ontology

7 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:4961 bone marrow disease A hematopoietic system disease that is located_in the bone marrow.
DOID:74 hematopoietic system disease A disease of anatomical entity that has_material_basis_in hematopoietic cells.
DOID:10780 primary polycythemia A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.
DOID:8432 polycythemia A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.
DOID:0111630 familial erythrocytosis 8 A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.

6 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:10780 DOID:0111630
is_a DOID:7 DOID:0111630
is_a DOID:74 DOID:0111630
is_a DOID:4961 DOID:0111630
is_a DOID:8432 DOID:0111630
is_a DOID:4 DOID:0111630

7 Synonyms

Name Type
bisphosphoglycerate mutase deficiency synonym
bisphosphoglyceromutase deficiency synonym
BPGM deficiency synonym
diphosphoglycerate mutase deficiency of erythrocyte synonym
DPGM deficiency synonym
ECYT8 synonym
hemolytic anemia due to diphosphoglycerate mutase deficiency synonym