DISEASES

Disease-gene associations mined from literature

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