FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive limb-girdle muscular dystrophy type 2J ID (Ontology) DOID:0110283 (Human Disease)
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).
Also Known As "LGMD2J" ; "muscular dystrophy, limb-girdle, type 2J"
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 Genes
 autosomal recessive limb-girdle muscular dystrophy type 2J       3
 for disease ribbon | autosomal recessive limb-girdle muscular dystrophy type 2J       3
 model of | autosomal recessive limb-girdle muscular dystrophy type 2J       3
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease_____
limb-girdle muscular dystrophy__|
                                autosomal recessive limb-girdle muscular dystrophy
                                 |__autosomal recessive limb-girdle muscular dystrophy type 2J  3 rec.
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Is a autosomal recessive limb-girdle muscular dystrophy
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Synonyms
  • "LGMD2J" EXACT OMO:0003012
    "muscular dystrophy, limb-girdle, type 2J" EXACT
Secondary IDs
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ICD10CM:G71.0
MIM:608807
ORDO:140922