| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
male EBP disorder with neurological defects [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |