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| General Information | |||
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| Term | MEND syndrome | ID (Ontology) | DOID:0111865 (Human Disease) |
| 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. | ||
| Also Known As | "male EBP disorder with neurological defects" | ||
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| DO.org | |||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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X-linked monogenic disease |__X-linked recessive disease__ inherited metabolic disorder | |__lipid metabolism disorder___| MEND syndrome |
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| Is a |
X-linked recessive disease lipid metabolism disorder |
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External Crossreferences & Linkouts
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MIM:300960 ORDO:401973 UMLS_CUI:C4085243 |
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