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trichorhinophalangeal syndrome type II (DOID:4998)
Alliance: disease page
Synonyms: Langer-Giedion syndrome; Trichorhinophalangeal dysplasia type II
Alt IDs: OMIM:150230, MESH:D015826, NCI:C75118, UMLS_CUI:C0023003
Definition: An autosomal dominant disease 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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