Visualize Submit Comment

Metadata
ID	DOID:0111865
Name	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. https://pubmed.ncbi.nlm.nih.gov/22229330/, https://pubmed.ncbi.nlm.nih.gov/24700572/
Xrefs	OMIM:300960 ORDO:401973 UMLS_CUI:C4085243
Subsets	DO_rare_slim
Synonyms	male EBP disorder with neurological defects [EXACT]
Parent Relationships	is_a lipid metabolism disorder is_a X-linked recessive disease