DO_rare_slim NCIthesaurus has material basis in has symptom disease has location autosomal dominant disease syndrome trichorhinophalangeal syndrome type II NCI:C75118 SNOMEDCT_US_2025_09_01:41069008 UMLS_CUI:C0023003 disease_ontology DOID:4998 GARD:7801 Langer-Giedion syndrome MIM:150230 OMIM mapping confirmed by DO. [SN]. ORDO:502 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. MESH:D015826 Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 autosomal dominant inheritance short stature epiphysis