RDCRN
From WikiMD's Food, Medicine & Wellness Encyclopedia
- 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[edit source]
RDCRN is a rare disease.
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Contributors: Prab R. Tumpati, MD