WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:3756 protein C deficiency Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.

1 Ontology

Name
Disease Ontology

10 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: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:3756 protein C deficiency A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:3756 DOID:0111904
is_a DOID:3756 DOID:0111909
is_a DOID:2452 DOID:3756
is_a DOID:0050736 DOID:3756
is_a DOID:4 DOID:3756
is_a DOID:0050177 DOID:3756
is_a DOID:630 DOID:3756
is_a DOID:74 DOID:3756
is_a DOID:7 DOID:3756
is_a DOID:1247 DOID:3756
is_a DOID:0050739 DOID:3756

0 Synonyms