WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050593 primary congenital glaucoma Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.

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: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: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:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:0050593 primary congenital glaucoma A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.
DOID:1686 glaucoma An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050177 DOID:0050593
is_a DOID:1686 DOID:0050593
is_a DOID:0080015 DOID:0050593
is_a DOID:5614 DOID:0050593
is_a DOID:630 DOID:0050593
is_a DOID:4 DOID:0050593
is_a DOID:863 DOID:0050593
is_a DOID:7 DOID:0050593
is_a DOID:0050155 DOID:0050593
is_a DOID:0050593 DOID:11211
is_a DOID:0050593 DOID:11212

0 Synonyms