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Summary Literature (0)
DOID:0111865 - MEND syndrome

Disease Ontology 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

Xenbase Genes : ebp


MIM:
MIM:300960 - MEND SYNDROME; MEND

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lipid metabolism disorder (is_a), X-linked recessive disease (is_a)