About   Help   FAQ
Disease Ontology Browser
congenital muscular dystrophy with cataracts and intellectual disability (DOID:0080197)
Alliance: disease page
Alt IDs: OMIM:617404
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/18/2022
MGI 6.17
The Jackson Laboratory