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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:0002653 | Bone pain |
| HP:0000411 | Protruding ear |
| HP:0009928 | Thick nasal alae |
| HP:0001382 | Joint hypermobility |
| HP:0100777 | Exostoses |
| HP:0001156 | Brachydactyly |
| HP:0005039 | Multiple long-bone exostoses |
| HP:0000252 | Microcephaly |
| HP:0001883 | Talipes |
| HP:0000010 | Recurrent urinary tract infections |
