Term Name:	trichorhinophalangeal syndrome type II
Synonyms:	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.
Ontology:	Human Disease [DOID:4998]   ( DOID:4998 )