Genopathy
Gene-Disorder Association · Article
Gene
OCA5
Oculocutaneous Albinism 5 (Autosomal Recessive)
Disorder
Albinism, Oculocutaneous, Type V
First reported 1987
Key publication · disorder Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20).Clinical genetics · 1987
Manually curated
Association Review

In brief

The association between OCA5 (Oculocutaneous Albinism 5 (Autosomal Recessive)) and Albinism, Oculocutaneous, Type V is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 14
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
Albinism, Oculocutaneous, Type V

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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04
Phenotype

Clinical features

8 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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05
Provenance

References & sources

4 references

Every source and publication cited across this dossier, as one numbered reference list.

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