Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Cone-rod dystrophy 2
Synonyms

CORD2

Definitions

(CORD2) - An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.

ID

http://identifiers.org/omim/120970

altLabel

CORD2

definition

(CORD2) - An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.

id

OMIM:120970

notation

OMIM:120970

prefLabel

Cone-rod dystrophy 2

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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