WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050792 multiple cutaneous and mucosal venous malformations Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21.

1 Ontology

Name
Disease Ontology

12 Parents

Identifier Name Description
DOID:178 vascular disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
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:1287 cardiovascular system disease A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
DOID:37 skin disease An integumentary system disease that is located_in skin.
DOID:16 integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
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:866 vein disease A vascular disease that is located_in a vein.
DOID:0050792 multiple cutaneous and mucosal venous malformations A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:866 DOID:0050792
is_a DOID:37 DOID:0050792
is_a DOID:0050736 DOID:0050792
is_a DOID:0050739 DOID:0050792
is_a DOID:1287 DOID:0050792
is_a DOID:178 DOID:0050792
is_a DOID:16 DOID:0050792
is_a DOID:4 DOID:0050792
is_a DOID:630 DOID:0050792
is_a DOID:0050177 DOID:0050792
is_a DOID:7 DOID:0050792

3 Synonyms

Name Type
cutaneomucosal venous malformation synonym
mucocutaneous venous malformations synonym
VMCM synonym