RDCRN | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

RDCRN | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

RDCRN

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Acute graft versus host disease 
Acute intermittent porphyria 
Aminolevulinate dehydratase deficiency porphyria 
Andersen-Tawil syndrome 
Angelman syndrome 
Arginase deficiency 
Argininosuccinic aciduria 
Baroreflex failure 
Benign essential blepharospasm 
Bronchiolitis obliterans 
Cardioencephalomyopathy 
Cerebral cavernous malformation - Not a rare disease 
Cerebrotendinous xanthomatosis 
Cervical dystonia 
Charcot-Marie-Tooth disease type 1A 
Charcot-Marie-Tooth disease type 1B - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 1C - See Charcot-Marie-Tooth disease 
Chronic graft versus host disease 
Chronic granulomatous disease 
Coenzyme Q10 deficiency 
Congenital erythropoietic porphyria 
Cutaneous sclerosis 
Cystinuria 
Dihydroxyadeninuria 
Dopamine beta hydroxylase deficiency 
DYT-GNAL 
Eosinophilic granulomatosis with polyangiitis 
Episodic ataxia 
Erythropoietic protoporphyria 
Fabry disease 
Familial bilateral striatal necrosis 
Fatal infantile encephalomyopathy 
Focal dystonia - Not a rare disease 
Focal segmental glomerulosclerosis 
Giant cell arteritis 
Glycogen storage disease type 2 
Glycoproteinosis 
Granulomatosis with polyangiitis 
Hereditary hemorrhagic telangiectasia 
Leber hereditary optic neuropathy 
Leber hereditary optic neuropathy with dystonia 
Leigh syndrome 
Leukodystrophy 
Membranous nephropathy 
Mevalonic aciduria 
Microscopic polyangiitis 
Minimal change disease 
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 
Mitochondrial DNA-associated Leigh syndrome 
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 
Mitochondrial neurogastrointestinal encephalopathy syndrome 
Mucolipidosis type 4 
Mucopolysaccharidosis type III 
Multiple respiratory chain enzyme deficiencies 
Multiple system atrophy 
N-acetylglutamate synthase deficiency 
Neonatal intrahepatic cholestasis caused by citrin deficiency 
Neuronal ceroid lipofuscinosis 2 
Neuropathy ataxia retinitis pigmentosa syndrome 
Niemann-Pick disease type A 
Niemann-Pick disease type C1 
Niemann-Pick disease type C2 
Non-dystrophic myotonic disorders 
Northern epilepsy 
Polyarteritis nodosa 
Porphyria cutanea tarda 
Postural orthostatic tachycardia syndrome - Not a rare disease 
Prader-Willi syndrome 
Primary ciliary dyskinesia 
Primary hyperoxaluria type 1 
Primary hyperoxaluria type 2 
Pseudohypoaldosteronism type 2 
Pure autonomic failure 
Rett syndrome 
Sandhoff disease 
Severe combined immunodeficiency 
Sitosterolemia 
Sjogren-Larsson syndrome 
Smith-Lemli-Opitz syndrome 
Spasmodic dysphonia 
Sturge-Weber syndrome 
Takayasu arteritis 
Variegate porphyria 
Wiskott Aldrich syndrome 
Wolman disease