RDCRN

Acute graft versus host disease
Acute intermittent porphyria
Aminolevulinate dehydratase deficiency porphyria
Andersen-Tawil syndrome
Angelman syndrome
Arginase deficiency
Argininosuccinic aciduria
Autosomal erythropoietic protoporphyria
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
Fabry disease
Familial bilateral striatal necrosis
Fatal infantile encephalomyopathy
Focal segmental glomerulosclerosis
Focal task-specific dystonia
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 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
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