OBO ID: DOID:4998 |
Term Name: | trichorhinophalangeal syndrome type II | Search Ontology: | |
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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. (5) | ||
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Ontology: | Human Disease ( DOID:4998 ) |
OTHER trichorhinophalangeal syndrome type II PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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