WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060865 patterned macular dystrophy 3 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.

1 Ontology

Name
Disease Ontology

11 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: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:0060863 patterned macular dystrophy A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.
DOID:0060865 patterned macular dystrophy 3 A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060863 DOID:0060865
is_a DOID:8466 DOID:0060865
is_a DOID:9799 DOID:0060865
is_a DOID:863 DOID:0060865
is_a DOID:5614 DOID:0060865
is_a DOID:0050155 DOID:0060865
is_a DOID:4448 DOID:0060865
is_a DOID:5679 DOID:0060865
is_a DOID:7 DOID:0060865
is_a DOID:4 DOID:0060865

2 Synonyms

Name Type
Martinique crinkled retinal pigment epitheliopathy synonym
MDPT3 synonym