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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


RDCRN

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* Acute graft versus host disease
* Acute intermittent porphyria
* Aminolevulinate dehydratase deficiency porphyria
* Andersen-Tawil syndrome
* Angelman syndrome
* Arginase deficiency
* Argininosuccinic aciduria
* Baroreflex failure
* Blepharospasm
* Bronchiolitis obliterans
* Cardioencephalomyopathy
* Cerebral cavernous malformation
* Cerebrotendinous xanthomatosis
* Ceroid lipofuscinosis neuronal 2
* 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
* Churg Strauss syndrome
* Coenzyme Q10 deficiency
* Congenital porphyria
* Craniofacial dystonia
* Cutaneous sclerosis
* Cystinuria
* Dent disease 1
* Dent disease 2
* Dihydroxyadeninuria
* Dopamine beta hydroxylase deficiency
* Encephalomyopathy
* Episodic ataxia
* Erythropoietic protoporphyria
* Fabry disease
* Familial bilateral striatal necrosis
* Fatal infantile encephalomyopathy
*   Focal dystonia
* Focal segmental glomerulosclerosis
* Giant cell arteritis
* Glycogen storage disease type 2
* Glycoproteinosis
* Granulomatosis with polyangiitis (Wegener's)
* Hereditary hemorrhagic telangiectasia
* Leber hereditary optic neuropathy
* Leber hereditary optic neuropathy with dystonia
* Leigh syndrome
* Leukodystrophy
* Limb dystonia
* Maternally inherited Leigh syndrome
* Membranous nephropathy
* Mevalonic aciduria
* Microscopic polyangiitis
* Minimal change disease
* 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 synthetase deficiency
* Neonatal intrahepatic cholestasis caused by citrin deficiency
* Neuropathy ataxia retinitis pigmentosa syndrome
* Niemann-Pick disease
* 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
* 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 type 1
* Smith-Lemli-Opitz syndrome type 2
* Spasmodic dysphonia
* Sturge-Weber syndrome
* Takayasu arteritis
* Variegate porphyria
* Wiskott Aldrich syndrome
* Wolman disease