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trichorhinophalangeal syndrome type II
Summary
- Synonym
-
- Langer-Giedion syndrome
- Trichorhinophalangeal dysplasia type II
- trichorhinophalangeal syndrome type 2
- Definition
- A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
- Super Class
- autosomal dominant disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16394 | Exostosin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001373 | Joint dislocation |
| HP:0009118 | Aplasia/Hypoplasia of the mandible |
| HP:0000405 | Conductive hearing impairment |
| HP:0002209 | Sparse scalp hair |
| HP:0000219 | Thin upper lip vermilion |
| HP:0001582 | Redundant skin |
| HP:0004322 | Short stature |
| HP:0000574 | Thick eyebrow |
