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DOID:0111725 - geleophysic dysplasia 1
Disease Ontology Definition:A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2.
Synonyms: GPHYSD1,
Xenbase Genes : adamtsl2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee