You are using an outdated browser. Please upgrade your browser to improve your experience.
ermine phenotype
Disease Summary
Associated Targets ()
Mondo Description Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.
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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0000407
MESH:C535508
MESH:C562663
OMIM:227010
Orphanet:999
SCTID:10170007
UMLS:C0268501
UMLS:C1856899
MONDO:0009196
High level summary of knowledge for a disease, including descriptions and datasource references.