trichorhinophalangeal syndrome type II (DOID:4998)
Alliance: disease page
Synonyms: Langer-Giedion syndrome; Trichorhinophalangeal dysplasia type II; trichorhinophalangeal syndrome type 2
Alt IDs: OMIM:150230, MESH:D015826, NCI:C75118, ORDO:502, UMLS_CUI:C0023003
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.