WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050633 ocular albinism 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.

1 Ontology

Name
Disease Ontology

6 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:0050633 ocular albinism 1 An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:5614 DOID:0050633
is_a DOID:7 DOID:0050633
is_a DOID:863 DOID:0050633
is_a DOID:0050155 DOID:0050633
is_a DOID:4 DOID:0050633
is_a DOID:0050633 DOID:0090100

2 Synonyms

Name Type
Albinism ocular 1 synonym
ocular albinism synonym