Details of Disease | DrugMAP

General Information of Disease (ID: DISBXXVG)

Disease Name	Autosomal recessive ocular albinism
Synonyms	AROA; autosomal recessive ocular albinism (disease); ocular albinism (disease), autosomal recessive; autosomal recessive ocular albinism
Definition	Autosomal recessive form of ocular albinism (disease).
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS5IHK1: Ocular albinism DISBXXVG: Autosomal recessive ocular albinism
Disease Identifiers	MONDO ID MONDO_0040653 UMLS CUI C0268503 MedGen ID 541337 SNOMED CT ID 78921008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OCA2	OTDWIGBF	Strong	Genetic Variation	[1]
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References

1	Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.Gene. 2012 Dec 15;511(2):470-4. doi: 10.1016/j.gene.2012.09.012. Epub 2012 Sep 23.