WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111012 cone-rod dystrophy 7 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13.

1 Ontology

Name
Disease Ontology

12 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:0050572 cone-rod dystrophy A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
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:0111012 cone-rod dystrophy 7 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050572 DOID:0111012
is_a DOID:5614 DOID:0111012
is_a DOID:630 DOID:0111012
is_a DOID:0050177 DOID:0111012
is_a DOID:863 DOID:0111012
is_a DOID:0050155 DOID:0111012
is_a DOID:5679 DOID:0111012
is_a DOID:4 DOID:0111012
is_a DOID:9799 DOID:0111012
is_a DOID:7 DOID:0111012
is_a DOID:8466 DOID:0111012

1 Synonyms

Name Type
CORD7 synonym