Featured rare diseases
BETA To date, we have nearly 6000 rare diseases included in the RARE List. Can't find the disease you're looking for? Help continue to build this resource and request to add it.
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Anti-HLA Hyperimmunization
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Adult Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
ALSP is a rare, inherited, autosomal dominant neurological disease with high penetrance that affects an estimated 10,000 people in the
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Acromegaloid Features, Overgrowth, Cleft palate and Hernia
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- Auditory Neuropathy
- Aural cephalosyndactyly
- Auralcephalosyndactyly
- Auriculo-Condylar Syndrome
- Auriculoosteodysplasia
- Austin's disease
- Autism Spectrum Disorders
- Auto-Brewery Syndrome
- Autoimmune Enteropathy
- Autoimmune Hemolytic Anemia
- Autoimmune Hepatitis
- Autoimmune Lymphoproliferative Syndrome
- Autoimmune Polyglandular Syndrome Type 1
- Autoimmune Polyglandular Syndrome Type 2
- Autoimmune Polyglandular Syndrome Type 3
- Autoimmune lymphoproliferative syndrome, type 1a
- Autoimmune lymphoproliferative syndrome, type 1b
- Autoimmune necrotizing myositis
- Autoimmune retinopathy
- Autosomal Dominant Brachyolmia
- Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
- Autosomal Dominant Charcot-Marie-Tooth Disease Type 2I
- Autosomal Dominant Leukodystrophy
- Autosomal Dominant Partial Epilepsy with Auditory Features
- Autosomal Recessive Axonal CMT4C2
- Autosomal Recessive Charcot-Marie-Tooth Disease Type 2B5
- Autosomal Recessive Congenital Hypomyelinating/Amyelinating Neuropathy
- Autosomal Recessive Hypophosphatemic Rickets type 2
- Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
- Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 2
- Autosomal Recessive Polycystic Kidney Disease
- Autosomal Recessive Progressive External Ophthalmoplegia
- Autosomal dominant candidiasis familial chronic mucocutaneous
- Autosomal dominant cerebellar ataxia
- Autosomal dominant hyper IgE syndrome
- Autosomal dominant intellectual disability 1
- Autosomal dominant intellectual disability 25
- Autosomal dominant intellectual disability 29
- Autosomal dominant intellectual disability-43
- Autosomal dominant intellectual disability-6
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant polycystic liver disease
- Autosomal dominant sleep-related hypermotor epilepsy
- Autosomal recessive Alport syndrome
- Autosomal recessive candidiasis familial chronic mucocutaneous
- Autosomal recessive hyper IgE syndrome
- Autosomal recessive pseudohypoaldosteronism type 1
- Avellino corneal dystrophy
- Avian flu
- Avian influenza
- Avoidant Personality Disorder
- Axenfeld Rieger Syndrome Type 1
- Axenfeld Rieger Syndrome Type 2
- Axenfeld Rieger Syndrome Type 3
- Axenfeld-Rieger syndrome
- Axial Osteomalacia
- Axonal Charcot-Marie Tooth Disease Type 2H
- Axonal Charcot-Marie Tooth Disease Type 2I
- Axonal Charcot-Marie Tooth Disease with Pyramidal Features, Autosomal Recessive
- Axonal Charcot-Marie Tooth Disease/Neuropathy with Pyramidal Involvement
- Azorean disease
