You are using an outdated browser. Please upgrade your browser to improve your experience.
oculocutaneous albinism type 4
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
Uniprot Description A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070098
MESH:C564696
OMIM:606574
Orphanet:79435
SCTID:715632003
UMLS:C1847836
MONDO:0011683
High level summary of knowledge for a disease, including descriptions and datasource references.