OBO ID: DOID:206
Term Name: hereditary multiple exostoses Search Ontology:
Synonyms:
  • hereditary multiple exostoses 1
  • hereditary multiple exostoses 2
  • hereditary multiple exostoses 3
  • Multiple congenital exostosis
  • Multiple exostosis syndromes
  • multiple ostechondromas
  • Osteochondromatosis syndrome
Definition: An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. (5)
References:
Ontology: Human Disease   ( DOID:206 )
OTHER hereditary multiple exostoses PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EXT1 Exostoses, multiple, type 1 133700
EXT2 Exostoses, multiple, type 2 133701
ZEBRAFISH MODELS
Fish Conditions Citations
ext2to273b/to273b standard conditions Wiweger et al., 2014
PHENOTYPE No data available

CITATIONS (1)