WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060746 basal laminar drusen Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3.

1 Ontology

Name
Disease Ontology

14 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:5679 retinal disease An eye disease that is located_in the retina.
DOID:8466 retinal degeneration A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
DOID:9799 eye degenerative disease  
DOID:4448 macular degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
DOID:2007 degeneration of macula and posterior pole  
DOID:2569 retinal drusen  
DOID:0060746 basal laminar drusen A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3.

13 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:2569 DOID:0060746
is_a DOID:0050177 DOID:0060746
is_a DOID:0050155 DOID:0060746
is_a DOID:2007 DOID:0060746
is_a DOID:630 DOID:0060746
is_a DOID:8466 DOID:0060746
is_a DOID:5679 DOID:0060746
is_a DOID:4448 DOID:0060746
is_a DOID:9799 DOID:0060746
is_a DOID:5614 DOID:0060746
is_a DOID:863 DOID:0060746
is_a DOID:7 DOID:0060746
is_a DOID:4 DOID:0060746

3 Synonyms

Name Type
cuticular drusen synonym
drusen of bruch membrane synonym
early adult-onset grouped drusen synonym