WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110010 achromatopsia 4 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.

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:13911 achromatopsia A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
DOID:13399 color blindness A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
DOID:1432 blindness An eye disease characterized by a lack or loss of vision.
DOID:0110010 achromatopsia 4 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:13911 DOID:0110010
is_a DOID:1432 DOID:0110010
is_a DOID:5614 DOID:0110010
is_a DOID:0050155 DOID:0110010
is_a DOID:13399 DOID:0110010
is_a DOID:7 DOID:0110010
is_a DOID:863 DOID:0110010
is_a DOID:4 DOID:0110010

1 Synonyms

Name Type
ACHM4 synonym