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Disease Ontology Browser
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory