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The National Information Centre for Metabolic Diseases

 

 

 

 

Metabolic Diseases

'D'

 

 

 

 

Metabolic

Diseases

 

'D'

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


 

 

Disease

 

Also Known as

 

D2 Hydroxyglutaric Aciduria    

D2-HGA

Dandy-Walker Syndrome Dandy-Walker Malformation
Danon Disease Glycogen Storage Disease IIb
D-Bifunctional Protein Deficiency

 

De Barsy Syndrome

Progeroid Syndrome of De Barsy 

 

Dent Disease   

X-Linked Nephrolithiasis

  Dentato-Olivary Dysplasia  

 

Dentatorubral – Pallidoluysian Atrophy

DRPLA

 

Dercum Disease

Adiposis Dolorosa

 

Desmosterolosis              

 

 

D-Glyceric Aciduria           

D-Glycerate Kinase Deficiency

 

Diabetes Insipidus

Nephrogenic/Neurogenic Diabetes Insipidus 

 

Dienoyl CoA Reductase Deficiency (2, 4-)         

 

DiGeorge Syndrome Pharyneal Pouch Syndrome

 

Dihydrolipoamide Dehydrogenase Deficiency    

DHLD Deficiency

 

Dihydropteridine Reductase Deficiency

Phenylketonuria Type II

 

Dihydropyrimidinase Deficiency

DHP Deficiency 

 

Dihydropyrimidine Dehydrogenase Deficiency

Combined Uraciluria-Thyminuria 

 

Dihydroxyacetone Phosphate Acyltransferase Deficiency

DHAPAT Deficiency Rhizomelic Chondroplasia Punctata Type 2

 

Disaccharidase Deficiency

 

 

Dopamine Beta-Hydroxylase Deficiency

Noradrenaline Deficiency 

 

Drash Syndrome

Denys-Drash Syndrome 

Duarte Galactosaemia

 

Dubin-Johnson Syndrome

Hyperbilirubinemia II

 

Duchenne Muscular Dystrophy

DMD

 

Dyggve-Melchior Clausen Disease

DMC Disease

 

Dysautonomia - Familial

Riley Day Syndrome

 

Dysbetalipoproteinaemia

Hyperlipoproteinaemia Type III

 

Dystonia