RDCRN

• 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 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

NIH genetic and rare disease info

• NIH info on RDCRN

RDCRN is a rare disease.