WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:3755 antithrombin III deficiency Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A thrombophilia that is characterized by the tendency to form clots in the veins.

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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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:1247 blood coagulation disease A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
DOID:2452 thrombophilia A blood coagulation disease that is characterized by an increased tendency to form clots.
DOID:3755 antithrombin III deficiency A thrombophilia that is characterized by the tendency to form clots in the veins.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:3755
is_a DOID:0050737 DOID:3755
is_a DOID:2452 DOID:3755
is_a DOID:630 DOID:3755
is_a DOID:4 DOID:3755
is_a DOID:7 DOID:3755
is_a DOID:0050177 DOID:3755
is_a DOID:0050739 DOID:3755
is_a DOID:74 DOID:3755
is_a DOID:1247 DOID:3755

2 Synonyms

Name Type
AT III deficiency synonym
hereditary thrombophilia due to congenital antithrombin deficiency synonym