About   Help   FAQ
Disease Ontology Browser
autosomal recessive limb-girdle muscular dystrophy type 2U (DOID:0110295)
Alliance: disease page
Synonyms: autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; LGMD2U; MDDGC7; muscular dystrophy limb-girdle type 2U; muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
Alt IDs: OMIM:616052, ICD10CM:G71.0, ORDO:352479
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.

Disease References using Mouse Models (1)
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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory