congenital muscular dystrophy with cataracts and intellectual disability

Summary

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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: inpp5k

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0024607 - congenital muscular dystrophy with cataracts and intellectual disability

MONDO:0024607 - congenital muscular dystrophy with cataracts and intellectual disability

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital muscular dystrophy (is_a)