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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:0002002 | Deep philtrum |
| HP:0000343 | Long philtrum |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis |
| HP:0001249 | Intellectual disability |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand |
| HP:0000414 | Bulbous nose |
| HP:0002750 | Delayed skeletal maturation |
| HP:0000164 | Abnormality of the dentition |
| HP:0001385 | Hip dysplasia |
| HP:0030680 | Abnormal cardiovascular system morphology |
