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Human Disease

MEND syndrome

Term ID
DOID:0111865
Synonyms
  • male EBP disorder with neurological defects
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. (2)
References
Ontology
Human Disease   ( DOID:0111865 )
Relationships
is a type of
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Genes Involved
Zebrafish Models