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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:0001252 | Hypotonia |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0002119 | Ventriculomegaly |
| HP:0000174 | Abnormal palate morphology |
| HP:0002857 | Genu valgum |
| HP:0000431 | Wide nasal bridge |
| HP:0011069 | Supernumerary tooth |
| HP:0001510 | Growth delay |
| HP:0000076 | Vesicoureteral reflux |
