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oculotrichodysplasia
Disease Summary
Associated Targets ()
Mondo Description Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
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.
MESH:C564934
OMIM:257960
Orphanet:2718
SCTID:722062004
UMLS:C1850332
MONDO:0009771
High level summary of knowledge for a disease, including descriptions and datasource references.