WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0061026 hereditary pyropoikilocytosis Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene.

1 Ontology

Name
Disease Ontology

11 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:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:74 hematopoietic system disease A disease of anatomical entity that has_material_basis_in hematopoietic cells.
DOID:2355 anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
DOID:583 hemolytic anemia A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.
DOID:720 normocytic anemia An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL.
DOID:0061026 hereditary pyropoikilocytosis A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0061026
is_a DOID:583 DOID:0061026
is_a DOID:4 DOID:0061026
is_a DOID:0050177 DOID:0061026
is_a DOID:74 DOID:0061026
is_a DOID:630 DOID:0061026
is_a DOID:0050739 DOID:0061026
is_a DOID:720 DOID:0061026
is_a DOID:2355 DOID:0061026
is_a DOID:7 DOID:0061026

1 Synonyms

Name Type
HPP synonym