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| Term | trichorhinophalangeal syndrome type II | ID (Ontology) | DOID:4998 (Human Disease) |
| 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. | ||
| Also Known As | "Langer-Giedion syndrome" ; "Trichorhinophalangeal dysplasia type II" ; "trichorhinophalangeal syndrome type 2" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| trichorhinophalangeal syndrome type II |
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autosomal dominant disease syndrome |
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GARD:7801 MESH:D015826 MIM:150230 NCI:C75118 ORDO:502 SNOMEDCT_US_2023_03_01:41069008 UMLS_CUI:C0023003 |
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