Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Retinal dystrophy

Synonyms

Breakdown of light-sensitive cells in back of eye

Definitions

Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

ID

http://purl.obolibrary.org/obo/HP_0000556

database_cross_reference

SNOMEDCT_US:314407005

MSH:D058499

UMLS:C0854723

definition

Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

has exact synonym

Breakdown of light-sensitive cells in back of eye

has_alternative_id

HP:0007736

HP:0007910

HP:0007974

HP:0007982

id

HP:0000556

label

Retinal dystrophy

notation

HP:0000556

prefLabel

Retinal dystrophy

subClassOf

http://purl.obolibrary.org/obo/HP_0000479

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