Human genes for trichorhinophalangeal syndrome type II
Trichorhinophalangeal syndrome type II [DOID:4998]
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.
Synonyms: trichorhinophalangeal syndrome type II, DOID:4998, trichorhinophalangeal syndrome type IIs, Langer-Giedion syndrome, Trichorhinophalangeal dysplasia type II ...
Linkouts: OMIM