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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- APBD
- APDS
- APRT Deficiency
- AR-CMT2B5
- AR-CMT2C
- AREDYLD
- ARHR2
- ARSA deficiency
- ASH1L
- ASH1L related disorders
- ASNS deficiency
- ASNSD
- ASXL3/Bainbridge-Ropers Syndrome
- ATR-X Syndrome
- Apert Syndrome
- Aphakia, Congenital Primary
- Aphalangia Partial with Syndactyly and Duplication of Metatarsal IV
- Aplasia Cutis Autosomal Recessive
- Aplasia Cutis Congenita
- Aplasia Cutis Congenita Dominant
- Aplasia Cutis Congenita Recessive
- Aplasia Cutis Congenita of Limbs Recessive
- Aplasia Cutis Myopia
- Aplasia of cerebellar vermis
- Aplasia of lacrimal and salivary glands
- Aplasia/Hypoplasia of Pelvis, Femur, Fibula, and Ulna with Abnormal Digits and Nails
- Aplastic Anemia
- Apo A-I Deficiency
- Apolipoprotein C 2I Deficiency
- Apparent Mineralocorticoid Excess
- Appendiceal cancer
- Aquagenic Pruritus
- Aquagenic urticaria
- Arachindonic Acid, Absence of
- Arachnodactyly Mental Retardation Dysmorphism
- Arachnoiditis
- Arakawa syndrome 1
- Arakawa's Syndrome 2
- Arboleda-Tham Syndrome (ARTHS)
- Argentine hemorrhagic fever
- Arginase deficiency
- Arginine: glycine amidinotransferase deficiency
- Argininemia
- Argininosuccinate lyase deficiency
- Argininosuccinic Aciduria
- Arhinia Choanal Atresia Microphthalmia
- Arima syndrome
- Arnold Chiari Malformation Type III
- Arnold Chiari Malformation Type IV
- Aromatase Deficiency
- Aromatic L Amino Acid Decarboxylase Deficiency
- Aromatic L-Amino Acid Decarboxylase Deficiency
- Arrhinia
- Arterial Calcification of Infancy
- Arterial Tortuosity Syndrome
- Arterial calcification due to CD73 deficiency
- Arteriovenous malformations of the brain
- Arthrodentoosteodysplasia
- Arthrogryposis Distal Type 2B
- Arthrogryposis Multiplex Congenita Distal X-Linked
- Arthrogryposis Multiplex Congenita Distal Type 1
- Arthrogryposis Multiplex Congenita Neurogenic Type
- Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
- Arthrogryposis Multiplex Congenita Whistling Face
- Arthrogryposis Ophthalmoplegia Retinopathy
- Arthrogryposis Renal Dysfunction Cholestasis Syndrome
- Arthrogryposis and Ectodermal Dysplasia
- Arthrogryposis, Distal, Type 2E
- Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies
- Arthrogryposis-Like Disorder
- Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness
- Arthropathy camptodactyly syndrome
- Arthropathy-camptodactyly syndrome
- Arts Syndrome
- Arylsulfatase A Deficiency
- Ascher's Syndrome
- Asherman's Syndrome
- Asparagine synthetase deficiency
- Aspartylglucosaminuria
- Aspartylglycosaminuria
- Asperger Syndrome
- Asphyxiating Thoracic Dysplasia (ATD)
- Asrar Facharzt Haque Syndrome
- Asternia
- Asternia with Cardiac, Diaphragmatic, and Abdominal Defects
- Astley-Kendall Syndrome
- Astroblastoma
- Astrocytoma type II
- Asymmetric Crying Facies
- Ataxia Telangiectasia
- Ataxia Telangiectasia Variant V1
- Ataxia with Vitamin E Deficiency
- Ataxia with oculomotor apraxia type 1
- Ataxia with oculomotor apraxia type 2
- Ataxia with oculomotor apraxia type 3
- Ataxia with oculomotor apraxia type 4
- Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
- Ataxia-Telangiectasia (A-T)
- Ataxia-oculomotor Apraxia type 1
- Ataxia-oculomtor Apraxia
- Ataxia-telangiectasia-like disorder
- Atelosteogenesis Type 1
- Atelosteogenesis Type 2
- Atelosteogenesis Type 3
- Athabaskan Brainstem Dysgenesis
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Atransferrinemia
- Atrial Septal Defect Coronary Sinus
- Atrial Septal Defect Ostium Secundum
- Atrial Septal Defect Sinus Venosus
- Atrophia bulborum hereditaria
- Attenuated FAP
- Attenuated familial adenomatous polyposis
- Atypical Endosalpingiosis
- Atypical Lipodystrophy
- Atypical Mycobacteriosis, Familial
- Atypical Neuroaxonal Dystrophy (NAD)
- Atypical Rett syndrome
- Atypical absence seizures
- Atypical hemolytic uremic syndrome
- arPEO
