Mend Syndrome
Disease ID: disease_node_16976
Connections displayed (default: 10).
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| Dbxref | MIM:300960, ORDO:401973, UMLS_CUI:C4085243 |
|---|---|
| Subclassof | DOID_3146, DOID_0080012 |
| Data Source | DOID |
| Synonyms | male EBP disorder with neurological defects |
| Doid Label | MEND syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_16976 |
| Doid Id | DOID_0111865 |
| Label | Mend Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Lipid Metabolism, Inborn Errors(ID:disease_node_4772) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)