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Ontology Browser
Term:
muscular dystrophy-dystroglycanopathy type C8 (DOID:0112382)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23  
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26  
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27  
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  
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  
congenital muscular dystrophy-dystroglycanopathy type A +   
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28  
muscular dystrophy-dystroglycanopathy type B +   
muscular dystrophy-dystroglycanopathy type B14  
muscular dystrophy-dystroglycanopathy type C12  
muscular dystrophy-dystroglycanopathy type C8  
A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. (DO)
myofibrillar myopathy 1  

Synonyms
Exact Synonyms: Autosomal Recessive Limb-Girdle Muscular Dystrophy 24 ;   Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 ;   LGMDR24 ;   MDDGC8 ;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 ;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED ;   limb-girdle muscular dystrophy-dystroglycanopathy (type C8)
Primary IDs: OMIM:618135
Alternate IDs: DOID:9001671
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/27066570/ "DO" "DO"

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