Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Rod-cone dystrophy
Synonyms

Retinitis pigmentosa

Rod cone dystrophy

Definitions

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience.

ID

http://purl.obolibrary.org/obo/HP_0000510

comment

Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience.

database_cross_reference

SNOMEDCT_US:28835009

MSH:D012174

UMLS:C0035334

definition

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

has exact synonym

Retinitis pigmentosa

Rod cone dystrophy

has_alternative_id

HP:0000547

HP:0001127

HP:0007635

HP:0007645

HP:0007742

HP:0007816

HP:0007826

HP:0007927

HP:0008036

id

HP:0000510

in_subset

http://purl.obolibrary.org/obo/hp#hposlim_core

label

Rod-cone dystrophy

notation

HP:0000510

prefLabel

Rod-cone dystrophy

subClassOf

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

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