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Ontology Browser

Term:
autosomal recessive limb-girdle muscular dystrophy type 2K (DOID:0110297)
Annotations: Rat: (13) Mouse: (13) Human: (13) Chinchilla: (13) Bonobo: (13) Dog: (13) Squirrel: (13) Pig: (13)
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  
autosomal recessive limb-girdle muscular dystrophy type 2J  
autosomal recessive limb-girdle muscular dystrophy type 2K  
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). (DO)
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: LGMD2K ;   LGMDR11 ;   MDDGC1 ;   POMT1-related muscle-eye-brain disease ;   POMT1-related muscle-eye-brain diseases ;   Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related ;   autosomal recessive limb-girdle muscular dystrophy 11 ;   limb-girdle muscular dystrophy, type 2K ;   limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ;   limb-girdle muscular dystrophy-intellectual disability syndrome ;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Primary IDs: OMIM:609308
Xrefs: NCI:C133730 ;   ORDO:86812
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15792865 "DO"

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