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Ontology Browser
Term:
autosomal recessive limb-girdle muscular dystrophy type 2I (DOID:0110299)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23  
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24  
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26  
autosomal recessive limb-girdle muscular dystrophy type 2A  
autosomal recessive limb-girdle muscular dystrophy type 2B  
autosomal recessive limb-girdle muscular dystrophy type 2C  
autosomal recessive limb-girdle muscular dystrophy type 2D  
autosomal recessive limb-girdle muscular dystrophy type 2E  
autosomal recessive limb-girdle muscular dystrophy type 2F  
autosomal recessive limb-girdle muscular dystrophy type 2G  
autosomal recessive limb-girdle muscular dystrophy type 2H  
autosomal recessive limb-girdle muscular dystrophy type 2I  
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. (DO)
autosomal recessive limb-girdle muscular dystrophy type 2J  
autosomal recessive limb-girdle muscular dystrophy type 2K  
autosomal recessive limb-girdle muscular dystrophy type 2L  
autosomal recessive limb-girdle muscular dystrophy type 2M  
autosomal recessive limb-girdle muscular dystrophy type 2N  
autosomal recessive limb-girdle muscular dystrophy type 2O  
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive limb-girdle muscular dystrophy type 2Q  
autosomal recessive limb-girdle muscular dystrophy type 2S  
autosomal recessive limb-girdle muscular dystrophy type 2T  
autosomal recessive limb-girdle muscular dystrophy type 2U  
autosomal recessive limb-girdle muscular dystrophy type 2W  
autosomal recessive limb-girdle muscular dystrophy type 2X  
autosomal recessive limb-girdle muscular dystrophy type 2Y  
autosomal recessive limb-girdle muscular dystrophy type 2Z  
Congenital Disorder of Glycosylation Type 1O  
myofibrillar myopathy 1  

Synonyms
Exact Synonyms: LGMD2I ;   LGMDR9 ;   MDDGC5 ;   autosomal recessive limb-girdle muscular dystrophy 9 ;   limb-girdle muscular dystrophy due to FKRP deficiency ;   limb-girdle muscular dystrophy, type 2I ;   limb-girdle muscular dystrophy-dystroglycanopathy, FRKP-related ;   limb-girdle muscular dystrophy-dystroglycanopathy, type C5 ;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
Primary IDs: MESH:C564612
Alternate IDs: OMIM:607155
Xrefs: NCI:C126739 ;   ORDO:34515
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11592034 "DO"

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