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Repository for lectin-assisted multimodality data
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MIRAGE
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
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010055 | Broad hallux |
| HP:0010557 | Overlapping fingers |
| HP:0011800 | Midface retrusion |
| HP:0012433 | Abnormal social behavior |
| HP:0100807 | Long fingers |
| HP:0000237 | Small anterior fontanelle |
| HP:0000308 | Microretrognathia |
| HP:0000319 | Smooth philtrum |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000396 | Overfolded helix |
