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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
MEND syndrome
Summary
- Synonym
-
- male EBP disorder with neurological defects
- 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.
- Super Class
- X-linked recessive disease lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0111865
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000414 | Bulbous nose |
| HP:0000565 | Esotropia |
| HP:0001104 | Macular hypoplasia |
| HP:0001134 | Anterior polar cataract |
| HP:0001252 | Hypotonia |
| HP:0001276 | Hypertonia |
| HP:0001344 | Absent speech |
| HP:0001419 | X-linked recessive inheritance |
| HP:0004736 | Crossed fused renal ectopia |
| HP:0005989 | Redundant neck skin |
