WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111631 familial erythrocytosis 7 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A 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.

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:0111631 familial erythrocytosis 7 A 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.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:10780 DOID:0111631
is_a DOID:4961 DOID:0111631
is_a DOID:7 DOID:0111631
is_a DOID:8432 DOID:0111631
is_a DOID:4 DOID:0111631
is_a DOID:74 DOID:0111631

3 Synonyms

Name Type
alpha-globin type erythrocytosis synonym
alpha-globin type polycythemia synonym
ECYT7 synonym