Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Ocular albinism
Synonyms

Albinism, Ocular

Absent pigmentation in the eye

Definitions

An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia.

ID

http://purl.obolibrary.org/obo/HP_0001107

comment

Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia.

database_cross_reference

MSH:D016117

UMLS:C0078917

SNOMEDCT_US:26399002

definition

An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.

equivalentClass

http://purl.obolibrary.org/obo/MP_0006159

has exact synonym

Albinism, Ocular

Absent pigmentation in the eye

has_alternative_id

HP:0007745

HP:0007837

id

HP:0001107

label

Ocular albinism

notation

HP:0001107

prefLabel

Ocular albinism

subClassOf

http://purl.obolibrary.org/obo/HP_0001098

http://purl.obolibrary.org/obo/MP_0008480

http://purl.obolibrary.org/obo/HP_0007730

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