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Aarskog Syndrome

Abetalipoproteinemia

Ablepharon-Macrostomia Syndrome

Acanthocheilonemiasis

Acanthosis Nigricans

Aceruloplasminemia

Achalasia

Achard Thiers Syndrome

Achondrogenesis

Achondroplasia

Acid Sphingomyelinase Deficiency

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 Cholecystitis

Acute Disseminated Encephalomyelitis

Acute Eosinophilic Pneumonia

Acute Intermittent Porphyria

Acute Myeloid Leukemia

Acute Promyelocytic Leukemia

Acute Respiratory Distress Syndrome

Adams Oliver Syndrome

ADCY5-Related Dyskinesia

Addison’s Disease

Adenoid Cystic Carcinoma

Adenylosuccinate Lyase Deficiency

Adie Syndrome

ADNP Syndrome

Adult Neuronal Ceroid Lipofuscinosis

Adult Polyglucosan Body Disease

Adult-Onset Still’s Disease

AEC Syndrome

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

Ameloblastic Carcinoma

Ameloblastoma

Amelogenesis Imperfecta

Amniotic Band Syndrome

Amniotic Fluid Embolism

Amyloidosis

Amyotrophic Lateral Sclerosis

Anaplastic Astrocytoma

Andersen Disease (GSD IV)

Andersen-Tawil Syndrome

Anemia of Chronic Disease

Anemia, Hemolytic, Acquired Autoimmune

Anemia, Megaloblastic

Anemia, Pernicious

Anemias, Sideroblastic

Anencephaly

Angelman Syndrome

Angioimmunoblastic T-Cell Lymphoma

Aniridia

Aniridia Cerebellar Ataxia Mental Deficiency

Anthrax

Antiphospholipid Syndrome

Antisynthetase Syndrome

Antithrombin Deficiency

Antley-Bixler Syndrome

AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP)

Apert Syndrome

Aplasia Cutis Congenita

Apnea, Infantile

Appendiceal Cancer and Tumors

Apraxia

Arachnoid Cysts

Arginase-1 Deficiency

Argininie: Glycine Amidinotransferase Deficiency

Argininosuccinic Aciduria

Aromatic L-Amino Acid Decarboxylase Deficiency

Arterial Tortuosity Syndrome

Arteriovenous Malformation

Arteritis, Takayasu

Arthritis, Infectious

Arthrogryposis Multiplex Congenita

ASAH1-Related Disorders

Asherman’s Syndrome

Asherson’s Syndrome

Aspartylglycosaminuria

Aspergillosis

Asphyxiating Thoracic Dystrophy

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

Autoinflammation with Infantile Enterocolitis

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 Hypophosphatemic Rickets Type 2

Autosomal Recessive Polycystic Kidney Disease

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