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ZIRC
OBO ID: DOID:4998
Term Name: trichorhinophalangeal syndrome type II Search Ontology:
Synonyms:
  • Langer-Giedion syndrome
  • Trichorhinophalangeal dysplasia type II
  • trichorhinophalangeal syndrome type 2
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. (5)
References:
Ontology: Human Disease   (DOID:4998)
OTHER trichorhinophalangeal syndrome type II PAGES
GENES INVOLVEDNo data available
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None