DOID:0080197 - congenital muscular dystrophy with cataracts and intellectual disability
Disease Ontology Definition:A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
|MONDO:0024607 - congenital muscular dystrophy with cataracts and intellectual disability|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : inpp5k
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): congenital muscular dystrophy (is_a)