WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:12241 beta thalassemia Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.

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:11252 microcytic anemia An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.
DOID:2355 anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
DOID:12241 beta thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
DOID:10241 thalassemia A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.

15 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:12241 DOID:0080770
is_a DOID:12241 DOID:0080771
is_a DOID:12241 DOID:0080772
is_a DOID:12241 DOID:0080773
is_a DOID:12241 DOID:0080774
is_a DOID:10241 DOID:12241
is_a DOID:0050737 DOID:12241
is_a DOID:2355 DOID:12241
is_a DOID:7 DOID:12241
is_a DOID:4 DOID:12241
is_a DOID:0050177 DOID:12241
is_a DOID:630 DOID:12241
is_a DOID:0050739 DOID:12241
is_a DOID:11252 DOID:12241
is_a DOID:74 DOID:12241

0 Synonyms