WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111058 platelet-type bleeding disorder 12 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.

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:2218 blood platelet disease A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
DOID:1247 blood coagulation disease A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
DOID:0111058 platelet-type bleeding disorder 12 A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0111058
is_a DOID:2218 DOID:0111058
is_a DOID:74 DOID:0111058
is_a DOID:7 DOID:0111058
is_a DOID:630 DOID:0111058
is_a DOID:1247 DOID:0111058
is_a DOID:0050739 DOID:0111058
is_a DOID:0050177 DOID:0111058
is_a DOID:4 DOID:0111058

5 Synonyms

Name Type
BDPLT12 synonym
PGHS1 deficiency synonym
platelet COX1 deficiency synonym
platelet cyclooxygenase 1 deficiency synonym
platelet prostaglandin-endoperoxide synthase 1 deficiency synonym