Supported Rare Diseases

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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 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 Onset Still’s Disease
Adult Polyglucosan Body 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, Hemolytic, Cold Antibody
Anemia, Hereditary Nonspherocytic Hemolytic
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
Arterial Tortuosity Syndrome
Arteriovenous Malformation
Arteritis, Takayasu
Arthritis, Infectious
Arthritis, Psoriatic
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
Babesiosis
Balantidiasis
Baller-Gerold Syndrome
Balo Disease
Banti’s Syndrome
Barakat Syndrome
Bardet-Biedl Syndrome
Barth Syndrome
Bartonellosis
Bartter Syndrome
Beckwith-Wiedemann Syndrome
Behçet’s Syndrome
Bejel
Bell’s Palsy
Benign Essential Blepharospasm
Benign Paroxysmal Positional Vertigo
Bernard-Soulier Syndrome
Berylliosis
Best Vitelliform Macular Dystrophy
Beta Thalassemia
Bile Acid Synthesis Disorders
Biliary Atresia
Binder Type Nasomaxillary Dysplasia
Binswanger Disease
Biotinidase Deficiency
Birt-Hogg-Dubé Syndrome
Björnstad Syndrome
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex
Blastomycosis
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
Bloom Syndrome
Blue Diaper Syndrome
Blue Rubber Bleb Nevus syndrome
Bohring-Opitz Syndrome
Börjeson-Forssman-Lehman Syndrome
Bosma Arhinia Microphthalmia Syndrome
Botulism
Bowen Disease
Bowen Hutterite Syndrome
Bowenoid Papulosis
Branchio Oculo Facial Syndrome
Branchiootorenal Spectrum Disorders
Bronchiolitis Obliterans Organizing Pneumonia
Bronchopulmonary Dysplasia
Brown Séquard Syndrome
Brown Syndrome
Brucellosis
Brugada Syndrome
Budd Chiari Syndrome
Buerger’s Disease
Bullous Pemphigoid
C Syndrome
C3 Glomerulopathy: Dense Deposit Disease and C3 Glomerulonephritis
CADASIL
Campomelic Syndrome
Camurati-Engelmann Disease
Canavan Disease
Candidiasis
CARASIL
Carbamoyl Phosphate Synthetase I Deficiency
Carcinoid Syndrome
CARD9 Deficiency
Cardiofaciocutaneous Syndrome
Carney Complex
Carnitine Palmitoyltransferase 1A Deficiency
Carnosinemia
Caroli Disease
Carpenter Syndrome
Castleman Disease
Cat Eye Syndrome
Catamenial Pneumothorax
Catel Manzke Syndrome
Caudal Regression Syndrome
Cavernous Malformation
CDKL5
Central Core Disease
Central Diabetes Insipidus
Central Pain Syndrome
Centronuclear Myopathy
Cerebellar Agenesis
Cerebellar Degeneration, Subacute
Cerebral Creatine Deficiency Syndromes
Cerebral Folate Deficiency
Cerebral Palsy
Cerebro Oculo Facio Skeletal Syndrome
Cerebrocostomandibular Syndrome
Cerebrotendinous Xanthomatosis
Cervical Dystonia
Cervical Teratoma
Chanarin-Dorfman Syndrome
Chandler’s Syndrome
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Chediak Higashi Syndrome
Chiari Frommel Syndrome
Chiari Malformations
Chikungunya
Chilaiditi’s Syndrome
Cholangiocarcinoma
Cholera
Cholesteryl Ester Storage Disease
Chondrocalcinosis 2
Chordoma
Choroideremia
Choroiditis, Serpiginous
Chromosome 10, Distal Trisomy 10q
Chromosome 10, Monosomy 10p
Chromosome 11, Partial Monosomy 11q
Chromosome 11, Partial Trisomy 11q
Chromosome 13, Partial Monosomy 13q
Chromosome 14 Ring
Chromosome 14, Trisomy Mosaic
Chromosome 15 Ring
Chromosome 15, Distal Trisomy 15q
Chromosome 18 Ring
Chromosome 18, Monosomy 18p
Chromosome 18, Tetrasomy 18p
Chromosome 18q- Syndrome
Chromosome 21 Ring
Chromosome 22 Ring
Chromosome 22q11.2 Deletion Syndrome
Chromosome 3, Monosomy 3p
Chromosome 3, Trisomy 3q2
Chromosome 4, Monosomy Distal 4q
Chromosome 4, Partial Trisomy Distal 4q
Chromosome 4, Trisomy 4p
Chromosome 4q Deletion
Chromosome 5, Trisomy 5p
Chromosome 6 Ring
Chromosome 6, Partial Trisomy 6q
Chromosome 7, Partial Monosomy 7p
Chromosome 8, Monosomy 8p
Chromosome 9 Ring
Chromosome 9, Partial Monosomy 9p
Chromosome 9, Tetrasomy 9p
Chronic Eosinophilic Pneumonia
Chronic Granulomatous Disease
Chronic Inflammatory Demyelinating Polyneuropathy
Chronic Intestinal Pseudo-Obstruction
Chronic Lymphocytic Leukemia
Chronic Myelogenous Leukemia
Churg Strauss Syndrome
Cicatricial Alopecia
Ciguatera Fish Poisoning
Citrullinemia Type 1
Classic Hereditary Hemochromatosis
Classic Infantile CLN1 Disease
Cleidocranial Dysplasia
Clostridial Myonecrosis
CLOVES Syndrome
Cluster Headache
Coats Disease
Cockayne Syndrome
Coffin Lowry Syndrome
Coffin Siris Syndrome
Cogan Reese Syndrome
Cohen Syndrome
COL4A1/A2-Related Disorders
Collagen Type VI-Related Disorders
Colorado Tick Fever
Common Variable Immune Deficiency
Complete DiGeorge Syndrome
Complex Regional Pain Syndrome
Cone Dystrophy
Congenital Adrenal Hyperplasia
Congenital Afibrinogenemia
Congenital Bilateral Perisylvian Syndrome
Congenital Central Hypoventilation Syndrome
Congenital Contractural Arachnodactyly
Congenital Disorders of Glycosylation
Congenital Erythropoietic Porphyria
Congenital Fiber Type Disproportion
Congenital Fibrosis of the Extraocular Muscles
Congenital Generalized Lipodystrophy
Congenital Hepatic Fibrosis
Congenital Hyperinsulinism
Congenital Lactic Acidosis
Congenital Muscular Dystrophy
Congenital Myasthenic Syndromes
Congenital Plasminogen Deficiency
Congenital Pulmonary Lymphangiectasia
Congenital Sucrase-Isomaltase Deficiency
Congenital Syphilis
Congenital Varicella Syndrome
Conradi Hünermann Syndrome
COPA Syndrome
Cor Triatriatum
Corneal Dystrophies
Cornelia de Lange Syndrome
Corticobasal Degeneration
Costello Syndrome
Craniofrontonasal Dysplasia
Craniometaphyseal Dysplasia
Craniopharyngioma
Creatine Transporter Deficiency
Creutzfeldt Jakob Disease
Cri du Chat Syndrome
Crigler Najjar Syndrome
Cronkhite-Canada Syndrome
Crouzon Syndrome
Cryptococcosis
Cushing Syndrome
Cutaneous T-Cell Lymphomas
Cutaneous Vasculitis
Cutis Laxa
Cutis Marmorata Telangiectatica Congenita
Cyclic Neutropenia
Cyclic Vomiting Syndrome
Cystic Fibrosis
Cysticercosis
Cystinosis
Cystinuria
Cytochrome C Oxidase Deficiency
Cytomegalovirus Infection
Dandy Walker Malformation
Danon Disease
De Barsy Syndrome
De Santis Cacchione Syndrome
Degos Disease
Dejerine-Sottas Syndrome
Dengue Fever
Dent Disease
Dentin Dysplasia Type I
Dentin Dysplasia Type II
Dentinogenesis Imperfecta Type III
Denys-Drash Syndrome
Deoxyhypusine Synthase Disorder
Depersonalization Disorder
Dercum’s Disease
Dermatitis Herpetiformis
Dermatomyositis
Desmoid Tumor
Dextrocardia with Situs Inversus
Diamond Blackfan Anemia
Diastrophic Dysplasia
Diencephalic Syndrome
Diffuse Pulmonary Lymphangiomatosis
Dilatation of the Pulmonary Artery, Idiopathic
Distal Myopathy
Dominant Multiple Epiphyseal Dysplasia
DOOR Syndrome
Dracunculosis
Dravet Syndrome
Duane syndrome
Dubin Johnson Syndrome
Dubowitz Syndrome
Duchenne Muscular Dystrophy
Duodenal Atresia or Stenosis
Dup15q Syndrome
Dupuytren’s Contracture
Dyggve Melchior Clausen syndrome
Dysautonomia, Familial
Dyskeratosis Congenita
Dysplasia Epiphysealis Hemimelica
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