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MEND syndrome
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:300960
Orphanet:401973
UMLS:C4085243
MONDO:0010498
High level summary of knowledge for a disease, including descriptions and datasource references.