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MEND syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
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.
Mondo Term and Equivalent IDs
MONDO:0010498:  MEND syndrome
Orphanet:401973: 
UMLS:C4085243: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found