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DOID:4998 - trichorhinophalangeal syndrome type II
Disease Ontology 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.
Synonyms: Langer-Giedion syndrome, Trichorhinophalangeal dysplasia type II, trichorhinophalangeal syndrome type 2,
Xenbase Genes
:
ext1,
trps1
| MONDO:0007874 - trichorhinophalangeal syndrome type II |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)