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Ontology Browser
Term:
autosomal recessive limb-girdle muscular dystrophy type 2D (DOID:0110278)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (4) Bonobo: (4) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
acute chest syndrome  
adult respiratory distress syndrome  
alcoholic cardiomyopathy  
Altitude Sickness +   
Apnea +   
Ataxia, Deafness, and Cardiomyopathy 
Atrial Dilation and Standstill +   
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  
Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
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  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Cardiomyopathy Associated with Myopathy and Sudden Death 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Chagas Cardiomyopathy  
Cheyne-Stokes Respiration 
Congenital Disorder of Glycosylation Type 1O  
Cough +   
Danon disease  
Diabetic Cardiomyopathies  
Dyspnea +   
Early-Onset Myopathy with Fatal Cardiomyopathy  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
endocardial fibroelastosis +   
endomyocardial fibrosis  
extrinsic cardiomyopathy +   
Familial Cardiac Lipidosis 
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
Hoarseness +   
Hypertaurinuric Cardiomyopathy 
Hyperventilation +   
Hypoglossia with Situs Inversus 
intrinsic cardiomyopathy +   
Isolated Hypoglossia 
Kearns-Sayre syndrome  
Keshan disease  
linear skin defects with multiple congenital anomalies 3  
meconium aspiration syndrome  
Methionine Malabsorption Syndrome 
Mitochondrial Cardiomyopathy  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
Mouth Breathing 
Muscular Dystrophy, Cardiac Type 
Myocardial Reperfusion Injury  
myocarditis +   
myofibrillar myopathy 1  
myofibrillar myopathy 2  
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES  
Respiratory Aspiration +  
respiratory failure +   
Roifman Syndrome  
Sengers syndrome  
systemic primary carnitine deficiency disease  
Tachypnea +  
Uruguay faciocardiomusculoskeletal syndrome  
Vocal Cord Dysfunction +  

Synonyms
Exact Synonyms: Alpha Sarcoglycanopathies ;   Alpha Sarcoglycanopathy ;   DMDA2 ;   Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2 ;   LGMD2D ;   Limb Girdle Muscular Dystrophy, Type 2D ;   Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency ;   Primary Adhalinopathies ;   adhalinopathies ;   primary adhalinopathy ;   sarcoglycanopathies ;   sarcoglycanopathy
Primary IDs: MESH:D058088
Alternate IDs: OMIM:608099 ;   RDO:0001261
Xrefs: NCI:C142081 ;   ORDO:62
Definition Sources: https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/30055862 "DO", https://www.omim.org/entry/608099 "DO", MESH:D058088

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