Version: 8.0.0
Date: Tue Jan 28 2025
MEND syndrome
DOID:0111865
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

MEND syndrome

Definition
A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.
Synonyms
  • male EBP disorder with neurological defects
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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    Associated Alleles

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      Associated Models

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