RDCRN

A Diseases

Acute graft versus host disease Acute intermittent porphyria Aminolevulinate dehydratase deficiency porphyria Andersen-Tawil syndrome Angelman syndrome Arginase deficiency Argininosuccinic aciduria

B Diseases

Baroreflex failure Benign essential blepharospasm Bronchiolitis obliterans

C Diseases

Cardioencephalomyopathy Cerebral cavernous malformation Cerebrotendinous xanthomatosis Cervical dystonia Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Chronic graft versus host disease Chronic granulomatous disease Coenzyme Q10 deficiency Congenital erythropoietic porphyria Cutaneous sclerosis Cystinuria

D Diseases

Dihydroxyadeninuria Dopamine beta hydroxylase deficiency DYT-GNAL

E Diseases

Eosinophilic granulomatosis with polyangiitis Episodic ataxia Erythropoietic protoporphyria

F Diseases

Fabry disease Familial bilateral striatal necrosis Fatal infantile encephalomyopathy Focal segmental glomerulosclerosis Focal task-specific dystonia

G Diseases

Giant cell arteritis Glycogen storage disease type 2 Glycoproteinosis Granulomatosis with polyangiitis

H Diseases

Hereditary hemorrhagic telangiectasia

L Diseases

Leber hereditary optic neuropathy Leber hereditary optic neuropathy with dystonia Leigh syndrome Leukodystrophy

M Diseases

Membranous nephropathy Mevalonic aciduria Microscopic polyangiitis Minimal change disease Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 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 Diseases

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 Northern epilepsy

P Diseases

Polyarteritis nodosa Porphyria cutanea tarda Postural orthostatic tachycardia syndrome Prader-Willi syndrome Primary ciliary dyskinesia Primary hyperoxaluria type 1 Primary hyperoxaluria type 2 Pseudohypoaldosteronism type 2 Pure autonomic failure

R Diseases

Rett syndrome

S Diseases

Sandhoff disease Severe combined immunodeficiency Sitosterolemia Sjogren-Larsson syndrome Smith-Lemli-Opitz syndrome Spasmodic dysphonia Sturge-Weber syndrome

T Diseases

Takayasu arteritis

V Diseases

Variegate porphyria

W Diseases

Wiskott Aldrich syndrome Wolman disease