WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060869 late-onset retinal degeneration Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.

1 Ontology

Name
Disease Ontology

9 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: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:0060869 late-onset retinal degeneration A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:8466 DOID:0060869
is_a DOID:5614 DOID:0060869
is_a DOID:0050155 DOID:0060869
is_a DOID:5679 DOID:0060869
is_a DOID:9799 DOID:0060869
is_a DOID:863 DOID:0060869
is_a DOID:7 DOID:0060869
is_a DOID:4 DOID:0060869

2 Synonyms

Name Type
autosomal dominant late-onset retinal degeneration synonym
LORD synonym