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Ontology Browser

Parent Terms Term With Siblings Child Terms
46,XX sex reversal 1  
46,XX sex reversal 3 
adrenoleukodystrophy +   
alcoholic cardiomyopathy  
Aldred Syndrome 
Allan-Herndon-Dudley syndrome  
alpha thalassemia-X-linked intellectual disability syndrome  
amelogenesis imperfecta type 1E  
Arena Syndrome 
Ataxia, Deafness, and Cardiomyopathy 
Atkin Syndrome  
Atrial Dilation and Standstill +   
autosomal recessive limb-girdle muscular dystrophy type 2D  
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  
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
Charcot-Marie-Tooth disease X-linked recessive 4  
CHILD syndrome  
Christianson syndrome  
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xp11.3 Deletion Syndrome  
CK syndrome  
Classical Lissencephalies and Subcortical Band Heterotopias +   
Coffin-Lowry syndrome  
congenital disorder of glycosylation It  
congenital disorder of glycosylation type IIm  
congenital nystagmus 5 
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 5  
craniofrontonasal syndrome  
creatine transporter deficiency  
cystinosis +   
Danon disease  
A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO)
Diabetic Cardiomyopathies  
early infantile epileptic encephalopathy 36  
Early-Onset Myopathy with Fatal Cardiomyopathy  
endocardial fibroelastosis +   
endomyocardial fibrosis  
extrinsic cardiomyopathy +   
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Cardiac Lipidosis 
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
female-restricted syndromic X-linked intellectual disability 99  
FG syndrome +   
focal dermal hypoplasia +   
fragile X syndrome +   
Glutamyl Ribose-5-Phosphate Storage Disease 
Glycogen Storage Disease 0, Liver  
Glycogen Storage Disease 0, Muscle  
glycogen storage disease I +   
glycogen storage disease II +   
glycogen storage disease III +   
glycogen storage disease IV +   
glycogen storage disease IX +   
glycogen storage disease V  
glycogen storage disease VI  
glycogen storage disease VII  
glycogen storage disease VIII 
Glycogen Storage Disease XI  
Glycogen Storage Disease XII  
Glycogen Storage Disease XIII  
glycogen storage disease XV  
Hypertaurinuric Cardiomyopathy 
intrinsic cardiomyopathy +   
Kearns-Sayre syndrome  
Keshan disease  
Lesch-Nyhan syndrome +   
lethal congenital glycogen storage disease of heart  
linear skin defects with multiple congenital anomalies 1  
linear skin defects with multiple congenital anomalies 2  
linear skin defects with multiple congenital anomalies 3  
lipid storage disease +   
Lisch epithelial corneal dystrophy 
Lujan Fryns Syndrome  
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
Menkes disease +   
Mental Retardation X-Linked, South African Type 
Mental Retardation, X-Linked 102  
Mental Retardation, X-Linked 49  
Mental Retardation, X-Linked 95  
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 
Mental Retardation, X-Linked, Syp-Related 
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency  
methylmalonic acidemia and homocysteinemia cblX type  
Mitochondrial Cardiomyopathy  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mucopolysaccharidosis +   
mucopolysaccharidosis II  
Muscular Dystrophy, Cardiac Type 
Myocardial Reperfusion Injury  
myocarditis +   
myofibrillar myopathy 2  
Nance-Horan syndrome  
neurodegeneration with brain iron accumulation 5  
non-syndromic X-linked intellectual disability +   
non-syndromic X-linked intellectual disability 1  
non-syndromic X-linked intellectual disability 107  
non-syndromic X-linked intellectual disability 19  
non-syndromic X-linked intellectual disability 2 
non-syndromic X-linked intellectual disability 41  
non-syndromic X-linked intellectual disability 63  
non-syndromic X-linked intellectual disability 89  
non-syndromic X-linked intellectual disability 91  
non-syndromic X-linked intellectual disability 98  
nonphotosensitive trichothiodystrophy 5  
orofaciodigital syndrome I  
otopalatodigital syndrome type 1  
otopalatodigital syndrome type 2  
Plagiocephaly and X-Linked Mental Retardation 
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  
Ppm-X Syndrome 
pyruvate decarboxylase deficiency +   
reducing body myopathy 1A  
Rett syndrome +   
Roifman Syndrome  
Schindler Disease, Type I  
Sengers syndrome  
severe congenital encephalopathy due to MECP2 mutation  
Stocco dos Santos Syndrome  
syndromic microphthalmia 1  
syndromic microphthalmia 2  
syndromic X-linked intellectual disability +   
systemic primary carnitine deficiency disease  
Tranebjaerg Svejgaard syndrome 
Uruguay Faciocardiomusculoskeletal Syndrome  
Vacuolar Myopathy  
Wittwer Syndrome  
X-linked Alport syndrome  
X-linked chondrodysplasia punctata 2  
X-linked dominant hypophosphatemic rickets  
X-linked endothelial corneal dystrophy 
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-Linked Mental Retardation Gustavson Type 
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-Linked Mental Retardation with Panhypopituitarism  

Exact Synonyms: Antopol disease ;   GSD IIb ;   GSD2B ;   Glycogen Storage Disease IIb ;   Glycogen Storage Disease Limited to the Heart ;   Glycogen Storage Disease Type 2B ;   Lysosomal Glycogen Storage Disease with Normal Acid Maltase ;   Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency ;   X-linked vacuolar cardiomyopathy and myopathy ;   glycogen storage cardiomyopathies ;   glycogen storage cardiomyopathy ;   glycogen storage disease type IIB ;   pseudoglycogenosis 2 ;   pseudoglycogenosis II
Primary IDs: MESH:D052120
Alternate IDs: OMIM:300257
Xrefs: GARD:9730 ;   NCI:C84735
Definition Sources: "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.