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Disease Ontology Browser
MEND syndrome (DOID:0111865)
Alliance: disease page
Synonyms: male EBP disorder with neurological defects
Alt IDs: OMIM:300960, ORDO:401973, UMLS_CUI:C4085243
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory