Rare Diseases

A
Aarskog Syndrome
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome
Acanthocheilonemiasis
Acanthosis Nigricans
Aceruloplasminemia
Achalasia
Achard Thiers Syndrome
Achondrogenesis
Achondroplasia
Acid Sphingomyelinase Deficiency
Acidemia Isovaleric
Acidemia, Methylmalonic
Acoustic Neuroma
Acquired Aplastic Anemia
Acquired Hemophilia
Acquired Lipodystrophy
Acquired Neuromyotonia
Acrocallosal Syndrome, Schinzel Type
Acrodermatitis Enteropathica
Acrodysostosis
Acromegaly
Acromesomelic Dysplasia
Acromicric Dysplasia
ACTH Deficiency
Acute Disseminated Encephalomyelitis
Acute Eosinophilic Pneumonia
Acute Intermittent Porphyria
Acute Respiratory Distress Syndrome
Adams Oliver Syndrome
Addison’s Disease
Adenoid Cystic Carcinoma
Adenylosuccinate Lyase Deficiency
Adie Syndrome
Adrenoleukodystrophy
Adult Neuronal Ceroid Lipofuscinosis
Adult Onset Still’s Disease
Adult Polyglucosan Body Disease
AEC Syndrome
Afibrinogenemia, Congenital
African Iron Overload
Agammaglobulinemia
Agenesis of Corpus Callosum
Agranulocytosis, Acquired
Ahumada-Del Castillo Syndrome
Aicardi Syndrome
AIDS Dysmorphic Syndrome
ALAD Porphyria
Alagille Syndrome
Alexander Disease
Alkaptonuria
Alopecia Areata
Alpers Disease
Alpha Thalassemia
Alpha Thalassemia X-linked Intellectual Disability Syndrome
Alpha-1 Antitrypsin Deficiency
Alpha-Mannosidosis
Alport Syndrome
Alström Syndrome
Alternating Hemiplegia of Childhood
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Alveolar Soft Part Sarcoma
Alveolitis, Extrinsic Allergic
Alzheimer’s Disease
Ameloblastic Carcinoma
Ameloblastoma
Amelogenesis Imperfecta
Amniotic Band Syndrome
Amyloidosis
Amyotrophic Lateral Sclerosis
Anaplastic Astrocytoma
Andersen Disease (GSD IV)
Andersen-Tawil Syndrome
Androgen Insensitivity Syndrome, Partial
Anemia of Chronic Disease
Anemia, Blackfan Diamond
Anemia, Hemolytic, Acquired Autoimmune
Anemia, Hemolytic, Cold Antibody
Anemia, Hereditary Nonspherocytic Hemolytic
Anemia, Hereditary Spherocytic Hemolytic
Anemia, Megaloblastic
Anemia, Pernicious
Anemias, Sideroblastic
Anencephaly
Angelman Syndrome
Angioimmunoblastic T-Cell Lymphoma
Aniridia
Aniridia Cerebellar Ataxia Mental Deficiency
Anodontia
Anthrax
Antiphospholipid Syndrome
Antithrombin Deficiency
Antley Bixler Syndrome
Apert Syndrome
Aplasia Cutis Congenita
Apnea, Infantile
Apraxia
Arachnoid Cysts
Arachnoiditis
Arginase Deficiency
Argininosuccinic Aciduria
Arterial Tortuosity Syndrome
Arteriovenous Malformation
Arteritis, Giant Cell
Arteritis, Takayasu
Arthritis, Infectious
Arthritis, Juvenile Rheumatoid
Arthritis, Psoriatic
Arthrogryposis Multiplex Congenita
Asherman’s Syndrome
Asherson’s Syndrome
Aspartylglycosaminuria
Aspergillosis
Astrocytoma
Ataxia Telangiectasia
Ataxia with Vitamin E Deficiency
ATR-16 Syndrome
Atransferrinemia
Atrial Septal Defects
Atrioventricular Septal Defect
Atypical Hemolytic Uremic Syndrome
Autoimmune Blistering Diseases
Autoimmune Hepatitis
Autoimmune Polyendocrine Syndrome Type II
Autoimmune Polyglandular Syndrome Type 1
Autosomal Dominant Hereditary Ataxia
Autosomal Dominant Hyper IgE Syndrome
Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Porencephaly Type I
Autosomal Dominant Tubulo-Interstitial Kidney Disease
Autosomal Recessive Hyper IgE Syndrome
Autosomal Recessive Polycystic Kidney Disease

B

 
Babesiosis
Balantidiasis
Baller Gerold Syndrome
Balo Disease
Banti’s Syndrome
Barakat Syndrome
Bardet Biedl Syndrome
Barth Syndrome
Bartonellosis
Bartter’s Syndrome
Beckwith-Wiedemann Syndrome
Behçet’s Syndrome
Bejel
Bell’s Palsy
Benign Essential Blepharospasm
Benign Paroxysmal Positional Vertigo
Bernard-Soulier Syndrome
Berylliosis

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