WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:14323 Marfan syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

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:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:5614 eye disease An eye and adnexa disease that is located_in the eye.
DOID:0050155 sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
DOID:0050828 artery disease A vascular disease that is located_in an artery.
DOID:520 aortic disease An artery disease that is characterized by degeneration of the cells composing the aortic wall.
DOID:14323 Marfan syndrome A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:520 DOID:14323
is_a DOID:65 DOID:14323
is_a DOID:5614 DOID:14323
is_a DOID:17 DOID:14323
is_a DOID:4 DOID:14323
is_a DOID:0050828 DOID:14323
is_a DOID:178 DOID:14323
is_a DOID:0050155 DOID:14323
is_a DOID:1287 DOID:14323
is_a DOID:863 DOID:14323
is_a DOID:7 DOID:14323

1 Synonyms

Name Type
Marfan's syndrome synonym