WormMine: DiseaseOntology DOID:14791 Leber congenital amaurosis Disease Ontology

Name
Disease Ontology

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:0080015	physical disorder	A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:5679	retinal disease	An eye disease that is located_in the retina.
DOID:14791	Leber congenital amaurosis	A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Name	Type
LCA	synonym
Leber's amaurosis	synonym
Leber's congenital amaurosis	synonym
Leber's disease	synonym

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