autosomal recessive limb-girdle muscular dystrophy type 2J

Summary

DOID:0110283 - autosomal recessive limb-girdle muscular dystrophy type 2J

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).

Synonyms: LGMD2J, muscular dystrophy, limb-girdle, type 2J

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

: ttn

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012127 - autosomal recessive limb-girdle muscular dystrophy type 2J

MONDO:0012127 - autosomal recessive limb-girdle muscular dystrophy type 2J

MIM:

MIM:608807 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10

MIM:608807 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10

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

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

Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)