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Summary Literature (0)
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

Xenbase Genes : mybpc1, pip5k1c

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012656 - lethal congenital contracture syndrome 3


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lethal congenital contracture syndrome (is_a)