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DOID:0060653 - lethal congenital contracture syndrome 3
Disease Ontology Definition:A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
Synonyms: Israeli Bedouin type B multiple contracture syndrome,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee