See Rare Diseases by First Letter (ALL)
- Abdominal Aortic Aneurysm
- Abdominal Obesity Metabolic Syndrome
- Abetalipoproteinemia
- Abrikosov's Tumor
- Absent T Lymphocytes
- Acanthocheilonemiasis
- Acanthocytosis
- Acanthosis Nigricans
- Achalasia
- Achondroplasia
- Acinic Cell Carcinoma
- Acoustic Neuroma
- Acquired Fructose Intolerance
- Acquired Hemophilia
- Acquired Von Willebrand Syndrome
- Acral Lentiginous Melanoma
- Acromegaly
- Actinic Cheilitis
- Acute Articular Rheumatism
- Acute Biphenotypic Leukemia
- Acute Disseminated Encephalomyelitis
- Acute Erythroblastic Leukemia
- Acute Erythroid Leukemia
- Acute Graft Versus Host Disease
- Acute Intermittent Porphyria
- Acute Lymphoblastic Leukemia
- Acute Lymphoblastic Leukemia, Childhood
- Acute Megakaryoblastic Leukemia
- Acute Monoblastic Leukemia
- Acute Mountain Sickness
- Acute Myeloblastic Leukemia With Maturation
- Acute Myeloblastic Leukemia Without Maturation
- Acute Myelocytic Leukemia
- Acute Myeloid Leukemia, Adult
- Acute Myeloid Leukemia, Childhood
- Acute Myelomonocytic Leukemia
- Acute Non Lymphoblastic Leukemia
- Acute Promyelocytic Leukemia
- Acute Respiratory Distress Syndrome
- Addison's Disease
- Adenine Phosphoribosyltransferase Deficiency
- Adenocarcinoma of Lung
- Adenocarcinoma of the Appendix
- Adenoid Cystic Carcinoma
- Adenoma of the Adrenal Gland
- Adenomyosis
- Adenosine Deaminase Deficiency
- Adrenal Cancer
- Adrenocortical Carcinoma
- Adrenoleukodystrophy X-linked
- Adrenomyeloneuropathy
- Adult Neuronal Ceroid Lipofuscinosis
- Afibrinogenemia
- Aggressive NK Cell Leukemia
- Aicardi Syndrome
- AIDS Dementia Complex
- AL Amyloidosis
- Alagille Syndrome
- Albinism
- Albright's Hereditary Osteodystrophy
- Alkaptonuria
- Allergic Bronchopulmonary Aspergillosis
- Alpha 1-antitrypsin Deficiency
- Alpha-Thalassemia
- Alport Syndrome
- Alstrom Syndrome
- Alternating Hemiplegia of Childhood
- Alveolar Echinococcosis
- Alveolar Soft Part Sarcoma
- Alveolitis, Extrinsic Allergic
- Alzheimer Disease Familial
- Alzheimer Disease Type 2
- Amaurosis Fugax
- Amebiasis
- Amelogenesis Imperfecta
- Amyloid Neuropathy
- Amyloidosis AA
- Amyloidosis Cerebral
- Amyotrophic Lateral Sclerosis
- Anal Cancer
- Anaplastic Astrocytoma
- Anaplastic Ependymoma
- Anaplastic Large Cell Lymphoma
- Anaplastic Oligoastrocytoma
- Anaplastic Oligodendroglioma
- Anaplastic Plasmacytoma
- Ancylostomiasis
- Andersen-Tawil Syndrome
- Anencephaly
- Angelman Syndrome
- Angiofollicular Lymph Hyperplasia
- Angioimmunoblastic Lymphadenopathy With Dysproteinemia
- Angiomatous Lymphoid Hamartoma
- Aniridia
- Anodontia
- Anorectal Atresia
- Anterior Uveitis
- Anthrax
- Antiphospholipid Syndrome
- Antisocial Personality Disorder
- Antisynthetase Syndrome
- Aortic Coarctation
- Aortic Valve Stenosis
- Aphthous Stomatitis
- Aplasia Cutis Congenita
- Aplastic Anemia
- Apparent Mineralocorticoid Excess
- Apraxia
- Arachnoiditis
- Arginase Deficiency
- Argininosuccinic Aciduria
- Aromatic Amino Acid Decarboxylase Deficiency
- Arrhythmogenic Right Ventricular Dysplasia
- Arterial Calcification Due to CD73 Deficiency
- Arthrogryposis Multiplex Congenita
- Asbestosis
- Asherman's Syndrome
- Aspartylglycosaminuria
- Aspergillosis
- Asphyxia Neonatorum
- Ataxia Telangiectasia
- Atrial Myxoma, Familial
- Atrioventricular Septal Defect
- Attenuated Familial Adenomatous Polyposis
- Atypical Hemolytic Uremic Syndrome
- Auditory Neuropathy
- Auditory Perceptual Disorder
- Autoimmune Enteropathy
- Autoimmune Hemolytic Anemia
- Autoimmune Hepatitis
- Autoimmune Inner Ear Disease
- Autoimmune Lymphoproliferative Syndrome
- Autoimmune Pancreatitis
- Autosomal Dominant Partial Epilepsy With Auditory Features
- Autosomal Recessive Hyper IgE Syndrome
- Autosomal Recessive Polycystic Kidney Disease
- B Cell Prolymphocytic Leukemia
- B-cell Lymphomas
- Babesiosis
- Bacterial Meningitis
- Balo Disease
- Balo's Concentric Sclerosis
- Bardet-Biedl Syndrome
- Bare Lymphocyte Syndrome
- Bare Lymphocyte Syndrome 2
- Barraquer-Simons Syndrome
- Barth Syndrome
- Bartter Syndrome
- Basal Cell Carcinoma, Multiple
- Basilar Migraine
- Batten Disease
- Becker Muscular Dystrophy
- Becker's Nevus
- Behcet's Disease
- Bell's Palsy
- Benign Paroxysmal Positional Vertigo
- Berger Disease
- Beriberi
- Berylliosis
- Best Vitelliform Macular Dystrophy
- Beta-galactosidase-1 Deficiency
- Beta-thalassemia
- Bethlem Myopathy
- Bile Duct Cancer
- Biliary Tract Cancer
- Biotinidase Deficiency
- Birdshot Chorioretinopathy
- Birt-Hogg-Dube Syndrome
- BK-virus Nephropathy
- Blastic Plasmacytoid Dendritic Cell
- Blastoma
- Blastomycosis
- Blepharospasm
- Bloom Syndrome
- Bone Cancer
- Botulism
- Bourneville Syndrome
- Bowen's Disease
- Brain Stem Glioma, Childhood
- Brain Tumor, Adult
- Brain Tumor, Childhood
- Breast Cancer, Male
- Brenner Tumor of Ovary
- Brittle Cornea Syndrome
- Bronchiolitis Obliterans
- Bronchiolitis Obliterans Organizing Pneumonia
- Bronchopulmonary Dysplasia
- Brown-Sequard Syndrome
- Brucellosis
- Brugada Syndrome
- Budd-Chiari Syndrome
- Buerger Disease
- Bullous Pemphigoid
- Burkitt Lymphoma
- Burnett Schwartz Berberian Syndrome
- Buruli Ulcer
- CADASIL
- Calciphylaxis
- Camurati-Engelmann Disease
- Canavan Disease
- Capillary Hemangioblastoma
- Carbamoyl Phosphate Synthetase 1 Deficiency
- Carcinoid Syndrome
- Carcinoid Tumor
- Cardiospasm
- Carney Complex
- Carnitine Palmitoyltransferase 2 Deficiency
- Caroli Disease
- Castleman's Disease
- Cat Scratch Disease
- Catastrophic Antiphospholipid Syndrome
- Central Centrifugal Cicatricial Alopecia
- Central Core Disease
- Central Nervous System Lymphoma, Primary
- Central Post-stroke Pain
- Central Serous Chorioretinopathy
- Cerebellar Astrocytoma, Childhood
- Cerebellar Degeneration
- Cerebral Astrocytoma, Childhood
- Cerebral Cavernous Malformation
- Cerebral Palsy Spastic Diplegic
- Cerebral Palsy Spastic Hemiplegic
- Cerebrospinal Fluid Leak
- Cerebrotendinous Xanthomatosis
- Ceroid Storage Disease
- Cervical Dystonia
- Cervical Intraepithelial Neoplasia
- Chagas Disease
- Chanarin-Dorfman Syndrome
- Chandler's Syndrome
- Charcot-Marie-Tooth Disease
- Charcot-Marie-Tooth Disease Type 1A
- Chediak-Higashi Syndrome
- Cherubism
- Chiari Malformation Type 2
- Chikungunya
- CHILD Syndrome
- Childhood Disintegrative Disorder
- Childhood-Onset Schizophrenia
- Cholecystitis
- Cholera
- Cholestasis, Progressive Familial Intrahepatic 3
- Cholesteatoma
- Chondrocalcinosis 2
- Chondrosarcoma
- Chordoma
- Chorea Minor
- Choreoacanthocytosis
- Choriocarcinoma
- Chorioretinitis
- Choroid Plexus Carcinoma
- Choroideremia
- Choroiditis
- Chromophil Renal Cell Carcinoma
- Chromosomal Triplication
- Chromosome 17p Deletion
- Chromosome 5q Deletion
- Chronic Active Epstein-Barr Virus Infection
- Chronic Berylliosis
- Chronic Graft Versus Host Disease
- Chronic Granulomatous Disease
- Chronic Infantile Neurological Cutaneous Articular Syndrome
- Chronic Inflammatory Demyelinating Polyneuropathy
- Chronic Lymphocytic Leukemia
- Chronic Myeloid Leukemia
- Chronic Myelomonocytic Leukemia
- Chronic Myeloproliferative Disorders
- Chronic Neutrophilic Leukemia
- Churg Strauss Syndrome
- Chylothorax, Congenital
- Cicatricial Pemphigoid
- Citrullinemia Type I
- Classic Kaposi Sarcoma
- Clear Cell Renal Cell Carcinoma
- CLIPPERS
- Clostridium Difficile
- Clostridium Sordellii
- Cluster Headache
- COACH Syndrome
- Coal Worker's Pneumoconiosis
- Coats Disease
- Coccidioidomycosis
- Cockayne Syndrome
- Cogan's Syndrome
- Cold Agglutinin Disease
- Cold Contact Urticaria
- Collagenous Colitis
- Collecting Duct Carcinoma
- Combined Malonic and Methylmalonic Aciduria
- Common Variable Immunodeficiency
- Compartment Syndrome
- Complete Atrioventricular Canal
- Complex Regional Pain Syndrome
- Cone-rod Dystrophy
- Cone-rod Dystrophy 2
- Congenital Adrenal Hyperplasia
- Congenital Amegakaryocytic Thrombocytopenia
- Congenital Antithrombin Deficiency
- Congenital Aplastic Anemia
- Congenital Central Hypoventilation Syndrome
- Congenital Cytomegalovirus
- Congenital Diaphragmatic Hernia
- Congenital Dyserythropoietic Anemia
- Congenital Dyserythropoietic Anemia Type 1
- Congenital Fiber Type Disproportion
- Congenital Heart Block
- Congenital Hemolytic Anemia
- Congenital Hepatic Fibrosis
- Congenital Herpes Simplex
- Congenital Hypothyroidism
- Congenital Muscular Dystrophy
- Congenital Muscular Dystrophy Type 1A
- Congenital Porphyria
- Congenital Torticollis
- Conn's Syndrome
- Conotruncal Heart Malformations
- Conversion Disorder
- Coronary Artery Aneurysm
- Corticobasal Degeneration
- Cowden Syndrome
- Craniofacial Dystonia
- Craniofrontonasal Dysplasia
- Craniopharyngioma
- Craniosynostosis
- CREST Syndrome
- Creutzfeldt-Jakob Disease
- Crouzon Syndrome
- Cryoglobulinemia
- Cryopyrin-associated Periodic Syndrome
- Cryptococcosis
- Cryptogenic Organizing Pneumonia
- Cryptosporidiosis
- Currarino Triad
- Cushing's Syndrome
- Cutaneous Lupus Erythematosus
- Cutaneous Mastocytosis
- Cutaneous Sclerosis
- Cutaneous T-cell Lymphoma
- Cutis Laxa
- Cyclic Vomiting Syndrome
- Cystic Adenomatoid Malformation of Lung
- Cystic Fibrosis
- Cystic Hygroma
- Cysticercosis
- Cystinosis
- Cystinuria
- Cystosarcoma Phyllodes
- Cytomegalic Inclusion Disease
- Cytomegalovirus Retinitis
- Dancing Eyes-dancing Feet Syndrome
- Darier Disease
- Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficie...
- Dengue Fever
- Denys-Drash Syndrome
- Depersonalization Disorder
- Dermatofibroma
- Dermatofibrosarcoma Protuberans
- Dermatomyositis
- Desmoid Tumor
- Desmoplastic Small Round Cell Tumor
- Devic Disease
- Dextrocardia
- Di Guglielmo's Syndrome
- Diamond-Blackfan Anemia
- Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
- DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
- Diffuse Astrocytoma
- Diffuse Gastric Cancer
- Diffuse Scleroderma
- Diffuse Systemic Sclerosis
- Dihydroxyadeninuria
- Dilated Cardiomyopathy
- Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism
- Diphtheria
- Dominant Ichthyosis Vulgaris
- Donnai-Barrow Syndrome
- Dopamine Beta Hydroxylase Deficiency
- Double Outlet Right Ventricle
- Dravet Syndrome
- Dubin-Johnson Syndrome
- Duchenne Muscular Dystrophy
- Duhring Brocq Disease
- Dysequilibrium Syndrome
- Dysferlinopathy
- Dyskeratosis Congenita
- Dyskinesia, Drug Induced
- Dystonia 11
- Dystonia 12
- Dystrophic Epidermolysis Bullosa
- Dystrophinopathy
- Eales Disease
- Eastern Equine Encephalitis
- Ebola Virus Disease
- Ebstein's Anomaly
- Eccentrochondrodysplasia
- Eclampsia
- Ectodermal Dysplasia
- Ectopic Pregnancy
- Ehlers-Danlos Syndrome
- Eisenmenger Syndrome
- Elective Mutism
- Embryonal Carcinoma
- Endemic Kaposi Sarcoma
- Endolymphatic Sac Tumor
- Endometrial Stromal Sarcoma
- Endomyocardial Fibrosis
- Enlarged Vestibular Aqueduct Syndrome
- Enteropathy-associated T-cell Lymphoma
- Eosinophilia-myalgia Syndrome
- Eosinophilic Enteropathy
- Eosinophilic Fasciitis
- Ependymoblastoma
- Ependymoma
- Epidermodysplasia Verruciformis
- Epidermolysis Bullosa
- Epidermolysis Bullosa Acquisita
- Epidermolysis Bullosa Simplex
- Epilepsy Juvenile Absence
- Epileptic Encephalopathy Lennox-Gastaut Type
- Episodic Ataxia
- Episodic Ataxia With Nystagmus
- Epithelial-myoepithelial Carcinoma
- Epithelioid Sarcoma
- Erdheim-Chester Disease
- Erysipelas
- Erythromelalgia
- Erythroplakia
- Erythropoietic Protoporphyria
- Esophageal Atresia
- Esophageal Cancer
- Esophageal Varices
- Esotropia
- Essential Thrombocythemia
- Essential Tremor
- Esthesioneuroblastoma
- Evans Syndrome
- Ewing's Family of Tumors
- Ewing's Sarcoma
- Exercise Induced Anaphylaxis
- Exfoliative Dermatitis
- Exstrophy of the Bladder
- Extracranial Germ Cell Tumor, Childhood
- Extragonadal Germ Cell Tumor
- Fabry Disease
- Facioscapulohumeral Muscular Dystrophy
- Factor VII Deficiency
- Factor X Deficiency
- Factor XIII Deficiency
- Fallopian Tube Cancer
- Familial Adenomatous Polyposis
- Familial Cold Autoinflammatory Syndrome
- Familial Colorectal Cancer
- Familial Dysautonomia
- Familial Encephalopathy With Neuroserpin Inclusion Bodies
- Familial Exudative Vitreoretinopathy
- Familial HDL Deficiency
- Familial Hemiplegic Migraine
- Familial Hemiplegic Migraine Type 1
- Familial Hyperinsulinism
- Familial Hypertrophic Cardiomyopathy
- Familial Isolated Hyperparathyroidism
- Familial Isolated Pituitary Adenoma
- Familial Mediterranean Fever
- Familial Prostate Cancer
- Familial Thoracic Aortic Aneurysm and Dissection
- Familial Transthyretin Amyloidosis
- Fanconi Anemia
- Fanconi Bickel Syndrome
- Fanconi Renotubular Syndrome
- Fatal Familial Insomnia
- Felty's Syndrome
- Fetal Alcohol Spectrum Disorders
- Fetal Edema
- Fetal Macrosomia
- Fibrinogen Deficiency, Congenital
- Fibrosarcoma
- Fibrous Dysplasia
- Focal Dermal Hypoplasia
- Focal Dystonia
- Focal Facial Dermal Dysplasia
- Follicular Lymphoma
- Formaldehyde Poisoning
- Fournier Gangrene
- Fragile X Syndrome
- Frambesia Tropica
- Fraser Syndrome
- Frasier Syndrome
- Freeman Sheldon Syndrome
- Frey's Syndrome
- Friedreich Ataxia
- Frontotemporal Dementia
- Fryns Syndrome
- Fucosidosis
- Galactorrhoea-Hyperprolactinaemia
- Galactose Epimerase Deficiency
- Galactosemia
- Galactosialidosis
- Gall Bladder Cancer
- Ganglioglioma
- Gardner Syndrome
- Gastric Lymphoma
- Gastro-enteropancreatic Neuroendocrine Tumor
- Gastrointestinal Stromal Tumors
- Gastroschisis
- Gaucher Disease
- Gaucher Disease Type 1
- Gaucher Disease Type 2
- Gaucher Disease Type 3
- Gelatinous Ascites
- Genital Dwarfism
- Geographic Tongue
- Germinoma
- Gestational Trophoblastic Tumor
- Giant Axonal Neuropathy
- Giant Cell Arteritis
- Giant Cell Myocarditis
- Giant Papillary Conjunctivitis
- Gigantism
- Gigantomastia
- Gitelman Syndrome
- Glanzmann Thrombasthenia
- Glaucoma 3 Primary Infantile B
- Glaucoma, Congenital
- Glioblastoma
- Glioma
- Gliomatosis Cerebri
- Gliosarcoma
- Glomerulonephritis
- Glucagonoma
- Glucagonoma Syndrome
- Glucocorticoid-remediable Aldosteronism
- Glucose-6-phosphate Dehydrogenase Deficiency
- Glycogen Storage Disease Type 2
- Glycogen Storage Disease Type 3
- Glycogen Storage Disease Type 4
- GM1 Gangliosidosis
- Gonadal Dysgenesis
- Granulocytopenia
- Granuloma Annulare
- Granulosa Cell Tumor of the Ovary
- Graves' Disease
- Gray Platelet Syndrome
- Griscelli Syndrome
- Growth Hormone Deficiency
- Guillain-Barre Syndrome
- Gyrate Atrophy of Choroid and Retina
- Haemophilus Influenzae
- Hailey-Hailey Disease
- Hairy Cell Leukemia
- Hand-Schuller-Christian Disease
- Hansen's Disease
- Hantavirus Pulmonary Syndrome
- Heart Tumor
- Heavy Metal Poisoning
- HELLP Syndrome
- Helminthiasis
- Hemangioblastoma
- Hemangioendothelioma
- Hemangiopericytoma
- Hemifacial Microsomia
- Hemiplegia
- Hemiplegic Migraine
- Hemoglobin C Disease
- Hemoglobin SC Disease
- Hemolytic Uremic Syndrome
- Hemophagocytic Lymphohistiocytosis
- Hemophilia
- Hemophilia A, Acquired
- Hemophilia A, Congenital
- Hemophilia B
- Hemophilic Arthropathy
- Hemorrhagic Fever
- Hemosiderosis
- Henoch-Schonlein Purpura
- Heparin-induced Thrombocytopenia
- Hepatic Encephalopathy
- Hepatitis E
- Hepatoblastoma
- Hepatocellular Carcinoma (fibrolamellar Variant)
- Hepatocellular Carcinoma, Childhood
- Hepatorenal Syndrome
- Hereditary Amyloidosis
- Hereditary Angioedema
- Hereditary Ataxia
- Hereditary Coproporphyria
- Hereditary Elliptocytosis
- Hereditary Fructose Intolerance
- Hereditary Hemorrhagic Telangiectasia
- Hereditary Hyperuricemia
- Hereditary Multiple Osteochondromas
- Hereditary Neuropathy With Liability to Pressure Palsy
- Hereditary Pancreatitis
- Hereditary Spastic Paraplegia
- Hereditary Spherocytosis
- Hermansky-Pudlak Syndrome
- Herpes Simplex Encephalitis
- Herpes Zoster Ophthalmicus
- Herpetic Keratitis
- Heterotaxy
- Hirschsprung's Disease
- His Bundle Tachycardia
- Hodgkin Lymphoma
- Hodgkin Lymphoma, Childhood
- Holoprosencephaly
- Homocysteinemia
- Homocystinuria
- Homologous Wasting Disease
- Hoyeraal Hreidarsson Syndrome
- HTLV-1 Associated Myelopathy/tropical Spastic Paraparesis
- Human T-cell Leukemia Virus Type 1
- Human T-cell Leukemia Virus Type 2
- Hunter-McAlpine Syndrome
- Huntington Disease
- Hurthle Cell Thyroid Cancer
- Hydatidiform Mole
- Hydatidosis
- Hydrocephalus
- Hydrops Fetalis
- Hyper IgE Syndrome
- Hyper-IgD Syndrome
- Hyperacusis
- Hyperadrenalism
- Hypereosinophilic Syndrome
- Hyperlipidemia Type 3
- Hyperlipoproteinemia Type 1
- Hyperlipoproteinemia Type 2
- Hyperlipoproteinemia Type 5
- Hyperparathyroidism, Primary
- Hypersensitivity Vasculitis
- Hypoadrenalism
- Hypoaldosteronism
- Hypochondroplasia
- Hypocomplementemic Urticarial Vasculitis
- Hypohidrotic Ectodermal Dysplasia
- Hypokalemic Periodic Paralysis
- Hypolipoproteinemia
- Hypomagnesemia Primary
- Hypomelanotic Disorder
- Hypoparathyroidism
- Hypopharyngeal Cancer
- Hypophosphatasia
- Hypophosphatemic Rickets
- Hypopituitarism
- Hypoplastic Left Heart Syndrome
- Hypoplastic Right Heart Syndrome
- I Cell Disease
- IBIDS Syndrome
- Ichthyosis Linearis Circumflexa
- Ichthyosis Vulgaris
- Idiopathic Adolescent Scoliosis
- Idiopathic Myopathy
- Idiopathic Pulmonary Fibrosis
- Idiopathic Pulmonary Hemosiderosis
- Idiopathic Pulmonary Hypertension
- Idiopathic Thrombocytopenic Purpura
- Immune Thrombocytopenia
- Immunodeficiency With Hyper IgM Type 1
- Inborn Amino Acid Metabolism Disorder
- Inclusion Body Myopathy 2
- Inclusion Body Myositis
- Inclusion Conjunctivitis
- Incontinentia Pigmenti
- Indolent B Cell Lymphoma
- Infantile Apnea
- Infantile Scoliosis
- Infantile-onset Ascending Hereditary Spastic Paralysis
- Infectious Arthritis
- Infective Endocarditis
- Inflammatory Breast Cancer
- Inflammatory Myofibroblastic Tumor
- Insulin-like Growth Factor I Deficiency
- Insulinoma
- Intestinal Pseudo-obstruction
- Intracranial Arteriovenous Malformation
- Intrahepatic Cholangiocarcinoma
- Intrahepatic Cholestasis of Pregnancy
- Intraocular Melanoma
- Intrauterine Infections
- Intravenous Leiomyomatosis
- Iridocorneal Endothelial Syndrome
- Isaac's Syndrome
- Isolated ACTH Deficiency
- Japanese Encephalitis
- Jeune Syndrome
- Joubert Syndrome
- Joubert Syndrome With Oculorenal Anomalies
- Junctional Epidermolysis Bullosa
- Juvenile Dermatomyositis
- Juvenile Huntington Disease
- Juvenile Myelomonocytic Leukemia
- Juvenile Myoclonic Epilepsy
- Juvenile Osteoporosis
- Juvenile Retinoschisis
- Kabuki Syndrome
- Kallmann Syndrome
- Kallmann Syndrome 3
- Kaposiform Hemangioendothelioma
- Kartagener Syndrome
- Kawasaki Syndrome
- Kennedy Disease
- Keratoconus
- Keratomalacia
- Keratosis, Seborrheic
- Kernicterus
- Kidney Cancer
- Kikuchi Disease
- Klatskin Tumor
- Klebsiella
- Klinefelter Syndrome
- Klippel-Trenaunay Syndrome
- Krabbe Leukodystrophy
- Krukenberg Carcinoma
- KSHV Inflammatory Cytokine Syndrome
- Lactate Dehydrogenase A Deficiency
- Lafora Disease
- Lambert Eaton Myasthenic Syndrome
- Lamellar Ichthyosis
- Landau-Kleffner Syndrome
- Langerhans Cell Histiocytosis
- Large B Cell Diffuse Lymphoma
- Large Granular Lymphocyte Leukemia
- Laron Syndrome
- Laryngeal Cancer
- Laryngeal Cleft
- Laryngeal Papillomatosis
- Laryngomalacia
- Lassueur-Graham-Little Syndrome
- LCAD Deficiency
- LCHAD Deficiency
- Leber Congenital Amaurosis
- Leber Congenital Amaurosis 2
- Leber Hereditary Optic Neuropathy
- Leber Miliary Aneurysm
- Left Ventricular Noncompaction
- Legg-Calve-Perthes Disease
- Legionellosis
- Leigh Syndrome
- Leiner Disease
- Leiomyomatosis and Renal Cell Cancer, Hereditary
- Leiomyosarcoma
- Leishmaniasis
- Lentigo Maligna Melanoma
- Leptospirosis
- Lesch Nyhan Syndrome
- Leukemia, B-cell, Chronic
- Leukemia, Myeloid
- Leukemia, T-cell, Chronic
- Leukodystrophy
- Leukomalacia
- Leukoplakia
- Levator Syndrome
- Lewy Body Dementia
- Li-Fraumeni Syndrome
- Lichen Planus Follicularis
- Lichen Sclerosus
- Liddle Syndrome
- Light Chain Deposition Disease
- Limb-girdle Muscular Dystrophy
- Limb-girdle Muscular Dystrophy Type 2H
- Limb-girdle Muscular Dystrophy, Type 2A
- Limb-girdle Muscular Dystrophy, Type 2B
- Limb-girdle Muscular Dystrophy, Type 2C
- Limbic Encephalitis
- Lip and Oral Cavity Cancer
- Lipodystrophy
- Lipogranulomatosis
- Liposarcoma
- Listeria Infection
- Liver Cancer
- Localized Scleroderma
- Locked-in Syndrome
- Loeys-Dietz Syndrome
- Logopenic Progressive Aphasia
- Loiasis
- Long QT Syndrome 1
- Lowe Oculocerebrorenal Syndrome
- Lupus Nephritis
- Lymph Node Neoplasm
- Lymphangiectasis
- Lymphangioleiomyomatosis
- Lymphangioma
- Lymphangiomatosis
- Lymphatic Filariasis
- Lymphoblastic Lymphoma
- Lymphocytic Colitis
- Lymphoma AIDSrelated
- Lymphoma, Large-cell
- Lymphoma, Large-cell, Immunoblastic
- Lymphoma, Small Cleaved-cell, Diffuse
- Lymphoma, Small Cleaved-cell, Follicular
- Lymphomatoid Granulomatosis
- Lymphomatoid Papulosis
- Lymphomatous Thyroiditis
- Lymphosarcoma
- Lynch Syndrome
- Malaria
- Malignant Fibrous Histiocytoma
- Malignant Germ Cell Tumor
- Malignant Hyperthermia
- Malignant Mesenchymal Tumor
- Malignant Mesothelioma
- Malignant Mixed Mullerian Tumor
- Malignant Peripheral Nerve Sheath Tumor
- Malonyl-CoA Decarboxylase Deficiency
- Mansonelliasis
- Mantle Cell Lymphoma
- Maple Syrup Urine Disease
- Marburg Hemorrhagic Fever
- Marfan Syndrome
- Mastocytosis
- Maternal Hyperphenylalaninemia
- Maturity-onset Diabetes of the Young
- McCune Albright Syndrome
- Measles
- Meckel Syndrome
- Meconium Aspiration Syndrome
- Medullary Cystic Kidney Disease
- Medulloblastoma
- Medulloblastoma, Childhood
- Melanoma, Familial
- Meliodosis
- Membranoproliferative Glomerulonephritis Type 2
- Membranous Nephropathy
- Menetrier Disease
- Meningioma
- Meningococcal Infection
- Meningococcemia
- Menkes Disease
- Mercury Poisoning
- Merkel Cell Carcinoma
- Metachromatic Leukodystrophy
- Metastatic Squamous Neck Cancer With Occult Primary
- Methionine Adenosyltransferase Deficiency
- Methylmalonic Acidemia
- Mevalonic Aciduria
- Microcephaly
- Microencephaly
- Microscopic Polyangiitis
- Microsporidiosis
- Midline Lethal Granuloma
- Miller-Fisher Syndrome
- Milroy Disease
- Minimal Change Disease
- Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
- Mitochondrial Trifunctional Protein Deficiency
- Mixed Connective Tissue Disease
- Miyoshi Myopathy
- Moebius Syndrome
- Molybdenum Cofactor Deficiency
- Mondini Dysplasia
- Mondor Disease
- Monkeypox
- Monoclonal Gammopathy of Undetermined Significance
- Montefiore Syndrome
- Morphea
- Morquio Syndrome A
- Morvan's Fibrillary Chorea
- Motor Neuro-ophthalmic Disorders
- Moyamoya Disease
- Muckle-Wells Syndrome
- Mucoepidermoid Carcinoma
- Mucopolysaccharidosis
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type IIIA
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type VI
- Mucopolysaccharidosis Type VII
- Muenke Syndrome
- Multicentric Castleman’s Disease
- Multicore Disease
- Multifocal Choroiditis
- Multifocal Lymphangioendotheliomatosis With Thrombocytopenia
- Multiple Endocrine Neoplasia Type 1
- Multiple Endocrine Neoplasia Type 2
- Multiple Endocrine Neoplasia Type 2A
- Multiple Endocrine Neoplasia Type 2B
- Multiple Myeloma
- Multiple System Atrophy
- Multiple System Atrophy (MSA) With Orthostatic Hypotension
- Mumps
- Muscle Eye Brain Disease
- Muscular Dystrophy
- Myasthenia Gravis
- Mycobacterium Abscessus
- Mycobacterium Avium Complex
- Mycobacterium Xenopi
- Mycoplasmal Pneumonia
- Mycosis Fungoides
- Myelitis
- Myelodysplastic Syndromes
- Myelodysplastic/myeloproliferative Disease
- Myelofibrosis
- Myelomeningocele
- MYH9 Related Thrombocytopenia
- Myocarditis
- Myoclonus Epilepsy
- Myopathy Congenital
- Myotonia Atrophica
- Myotonic Dystrophy
- Myotonic Dystrophy Type 1
- Myotubular Myopathy
- Myxoid Liposarcoma
- Myxopapillary Ependymoma
- N-acetylglutamate Synthetase Deficiency
- Nail Patella Syndrome
- Narcolepsy
- Nasopharyngeal Carcinoma
- Necrotizing Enterocolitis
- Necrotizing Fasciitis
- Neisseria Meningitidis Infection
- Nelson Syndrome
- Neonatal Herpes
- Neonatal Hypothyroidism
- Neonatal Meningitis
- Neonatal Ovarian Cyst
- Neonatal Stroke
- Neonatal Systemic Lupus Erythematosus
- Nephrocalcinosis
- Nephrogenic Diabetes Insipidus
- Nephrogenic Systemic Fibrosis
- Nephropathic Cystinosis
- Nephrosclerosis
- Nerve Sheath Neoplasm
- Netherton Syndrome
- Neuroacanthocytosis
- Neuroblastoma
- Neuroepithelioma
- Neurofibroma
- Neurofibromatosis
- Neurofibromatosis Type 1
- Neurofibromatosis Type 2
- Neurofibrosarcoma
- Neurogenic Diabetes Insipidus
- Neuroleptic Malignant Syndrome
- Neuromyelitis Optica Spectrum Disorder
- Neuronal Ceroid Lipofuscinoses
- Neuropathy Hereditary Sensory and Autonomic Type 1
- Neurosyphilis
- Neurotoxicity Syndromes
- Neutral Lipid Storage Disease With Myopathy
- Nevoid Basal Cell Carcinoma Syndrome
- New Daily-persistent Headache
- Niemann-Pick Disease
- Niemann-Pick Disease Type B
- Niemann-Pick Disease Type C1
- Nodular Melanoma
- Nodular Regenerative Hyperplasia
- Non 24 Hour Sleep Wake Disorder
- Non-Hodgkin Lymphoma, Childhood
- Nonalcoholic Steatohepatitis
- Nonbullous Congenital Ichthyosiform Erythroderma
- Nondystrophic Myotonia
- Nonseminomatous Germ Cell Tumor
- Noonan Syndrome
- Noonan Syndrome 1
- Norrie Disease
- Notalgia Paresthetica
- Occipital Horn Syndrome
- Ochronosis
- Ocular Cicatricial Pemphigoid
- Ocular Melanoma
- Ocular Motility Disorders
- Ocular Toxoplasmosis
- Oculocutaneous Albinism
- Oculodentodigital Dysplasia
- Oculomotor Apraxia Cogan Type
- Oculopharyngeal Muscular Dystrophy
- Oligoastrocytoma
- Oligodendroglioma
- Omenn Syndrome
- Onchocerciasis
- Oncogenic Osteomalacia
- Optic Atrophy 1
- Optic Neuritis
- Optic Neuropathy, Anterior Ischemic
- Optic Pathway Glioma
- Oral Cancer
- Oral Leukoplakia
- Oral Lichen Planus
- Oral Squamous Cell Carcinoma
- Orbital Lymphoma
- Organic Acidemia
- Ornithine Transcarbamylase Deficiency
- Orofaciodigital Syndromes
- Oropharyngeal Cancer, Adult
- Osteochondritis Dissecans
- Osteochondroma
- Osteogenesis Imperfecta
- Osteomalacia
- Osteomyelitis
- Osteopetrosis
- Osteoporosis-pseudoglioma Syndrome
- Osteosarcoma
- Oto-Palatal-digital Syndrome
- Oto-palato-digital Syndrome Type 1
- Ovarian Cancer
- Ovarian Carcinosarcoma
- Ovarian Epithelial Cancer
- Ovarian Germ Cell Tumor
- Ovarian Low Malignant Potential Tumor
- Pachyonychia Congenita
- Paget Disease, Extramammary
- Palatopharyngeal Incompetence
- Pallister-Hall Syndrome
- Palmoplantar Keratoderma
- Pancreatic Adenoma
- Pancreatic Cancer
- Pancreatic Carcinoma, Familial
- Pancreatic Islet Cell Tumors
- PANDAS
- Pantothenate Kinase-associated Neurodegeneration
- Panuveitis
- Papillary Renal Cell Carcinoma
- Papilledema
- Papillon Lefevre Syndrome
- Paragangliomas 1
- Parainfluenza Virus Type 3
- Paramyotonia Congenita
- Paraplegia
- Parapsoriasis
- Parathyroid Carcinoma
- Parkes Weber Syndrome
- Paroxysmal Nocturnal Hemoglobinuria
- Paroxysmal Ventricular Fibrillation
- Pars Planitis
- Patent Ductus Arteriosus
- Pearson Syndrome
- Pectus Carinatum
- Pediatric Crohns Disease
- Pediatric Multiple Sclerosis
- Pediatric Ulcerative Colitis
- Pelizaeus-Merzbacher Disease
- Pemphigus
- Pemphigus Vulgaris
- Penis Agenesis
- Pentalogy of Cantrell
- Periarteritis Nodosa
- Periodic Fever, Familial, Autosomal Dominant
- Peripartum Cardiomyopathy
- Peripheral T-cell Lymphoma
- Periventricular Leukomalacia
- Peroxisome Biogenesis Disorders
- Persistent Truncus Arteriosus
- Peutz Jeghers Syndrome
- Peyronie Disease
- Pfeiffer Syndrome
- PHACE Syndrome
- Phenylketonuria
- Pheochromocytoma
- Phosphoglycerate Kinase Deficiency
- Photosensitive Epilepsy
- Pick's Disease
- Piebaldism
- Pierre Robin Sequence
- Pigment-dispersion Syndrome
- Pigmentary Retinopathy
- Pigmented Villonodular Synovitis
- Pilocytic Astrocytoma
- Pilomatrixoma
- Pineoblastoma
- Pineoblastoma, Childhood
- Pineocytoma
- Piriformis Syndrome
- Pityriasis Rubra Pilaris
- Plagiocephaly
- Plasma Cell Leukemia
- Plasma Thromboplastin Antecedent Deficiency
- Platelet Storage Pool Deficiency
- Pleomorphic Malignant Fibrous Histiocytoma
- Pleomorphic Xanthoastrocytoma
- Pleuropulmonary Blastoma
- Pneumocystosis
- Pneumonia, Eosinophilic
- POEMS Syndrome
- Poliomyelitis
- Polyarteritis Nodosa
- Polyarticular Onset Juvenile Idiopathic Arthritis
- Polycystic Liver Disease
- Polycythemia Vera
- Polydactyly
- Polyembryoma
- Polymorphic Catecholergic Ventricular Tachycardia
- Polymyositis
- Polyomavirus Allograft Nephropathy
- Porencephaly
- Porokeratosis of Mibelli
- Porphyria
- Porphyria Cutanea Tarda
- Post Polio Syndrome
- Post-transplant Lymphoproliferative Disease
- Post-traumatic Epilepsy
- Posterior Urethral Valves
- Posterior Uveitis
- Postural Orthostatic Tachycardia Syndrome
- Prader-Willi Syndrome
- Precocious Puberty
- Premature Ovarian Failure, Familial
- Priapism
- Primary Agammaglobulinemia
- Primary Biliary Cirrhosis
- Primary Carnitine Deficiency
- Primary Ciliary Dyskinesia
- Primary Effusion Lymphoma
- Primary Hyperoxaluria Type 1
- Primary Lateral Sclerosis
- Primary Pigmented Nodular Adrenocortical Disease
- Primary Progressive Aphasia
- Primary Sclerosing Cholangitis
- Prinzmetal's Variant Angina
- Progeria
- Progressive Hemifacial Atrophy
- Progressive Multifocal Leukoencephalopathy
- Progressive Myoclonic Epilepsy
- Progressive Non-fluent Aphasia
- Progressive Supranuclear Palsy
- Prolactinoma, Familial
- Propionic Acidemia
- Proteus Syndrome
- Protoporphyria
- Prurigo Nodularis
- Pseudo-Turner Syndrome
- Pseudocholinesterase Deficiency
- Pseudohypoparathyroidism
- Pseudohypoparathyroidism Type 1A
- Pseudomyotonia
- Pseudomyxoma Peritonei
- Pseudopelade of Brocq
- Pseudopseudohypoparathyroidism
- Pseudotumor Cerebri
- Pseudoxanthoma Elasticum
- Pterygium of the Conjunctiva and Cornea
- Pudendal Neuralgia
- Pulmonary Arteriovenous Malformation
- Pulmonary Edema of Mountaineers
- Pulmonary Surfactant Protein B, Deficiency of
- Pulmonary Valve Stenosis
- Pulmonary Vein Stenosis
- Pulmonary Venoocclusive Disease
- Pulmonary Venous Return Anomaly
- Pulmonic Stenosis
- Punctate Inner Choroidopathy
- Pure Autonomic Failure
- Pure Red Cell Aplasia
- Pyoderma Gangrenosum
- Pyridoxine Deficiency
- Pyropoikilocytosis Hereditary
- Q Fever
- Rabies
- Radiation Induced Brachial Plexopathy
- Radiation Induced Cancer
- Rasmussen Encephalitis
- Reactive Arthritis
- Rectal Neoplasm
- Recurrent Respiratory Papillomatosis
- Refsum Disease
- Refsum Disease, Infantile Form
- Relapsing Polychondritis
- Renal Cancer
- Renal Glycosuria
- Renal Tubular Acidosis
- Renal Tubular Acidosis, Distal, Autosomal Dominant
- Renal Tubular Dysgenesis
- Respiratory Distress Syndrome, Infant
- Restless Legs Syndrome, Susceptibility To, 6
- Reticular Dysgenesis
- Retinitis Pigmentosa
- Retinitis Pigmentosa-deafness Syndrome
- Retinoblastoma
- Retinopathy of Prematurity
- Retroperitoneal Fibrosis
- Rett Syndrome
- Revesz Syndrome
- Rhabdoid Tumor
- Rhabdomyosarcoma Alveolar
- Rhabdomyosarcoma Embryonal
- Rheumatic Fever
- Richter Syndrome
- Rickets
- Rod Myopathy
- Rothmund Thomson Syndrome
- Roussy Levy Syndrome
- Rubella
- Rubinstein-Taybi Syndrome
- Russell-Silver Syndrome
- Sacrococcygeal Teratoma
- Sandhoff Disease
- SAPHO Syndrome
- Sarcoidosis
- Scheuermann Disease
- Schistosomiasis
- Schwannoma
- Scleroatonic Muscular Dystrophy
- Scott Syndrome
- Scurvy
- Selective IgA Deficiency
- Semantic Dementia
- Seminoma
- Senior Loken Syndrome
- Sensory Neuropathy Type 1
- Septo-optic Dysplasia
- Serpiginous Choroiditis
- Sertoli-leydig Cell Tumors
- Severe Acute Respiratory Syndrome
- Severe Combined Immunodeficiency
- Sezary Syndrome
- Sharp Syndrome
- Shigellosis
- Short Bowel Syndrome
- Shprintzen-Goldberg Craniosynostosis Syndrome
- Shwachman-Diamond Syndrome
- Sialadenitis
- Sickle Cell Anemia
- Sideroblastic Anemia Pyridoxine-refractory Autosomal Recessive
- Siderosis
- Silicosis
- Single Ventricular Heart
- Sinonasal Undifferentiated Carcinoma
- Sitosterolemia
- Situs Inversus
- Small Intestine Cancer
- Small Non-cleaved Cell Lymphoma
- Smallpox
- Smith-Magenis Syndrome
- Soft Tissue Sarcoma
- Somatostatinoma
- Spasmodic Dysphonia
- Spastic Paraparesis
- Spastic Paraplegia Epilepsy Mental Retardation
- Spheroid Body Myopathy
- Sphingolipidosis
- Spielmeyer-Vogt Disease
- Spina Bifida
- Spinal Cord Neoplasm
- Spinal Muscular Atrophy
- Spinal Muscular Atrophy 1
- Spinal Muscular Atrophy Type 2
- Spinal Shock
- Spinocerebellar Ataxia
- Spinocerebellar Ataxia 1
- Spinocerebellar Ataxia 10
- Spinocerebellar Ataxia 2
- Spinocerebellar Ataxia 3
- Spinocerebellar Ataxia Type 6
- Splenomegaly
- Spondylarthropathy
- Spontaneous Coronary Artery Dissection
- Sporotrichosis
- Squamous Cell Carcinoma of the Head and Neck
- Stargardt Disease
- Status Epilepticus
- Stevens-Johnson Syndrome
- Stickler Syndrome
- Stiff Person Syndrome
- Still's Disease Adult Onset
- Stomach Carcinoma
- Streptococcal Group A Invasive Disease
- Stress Cardiomyopathy
- Strongyloidiasis
- Sturge-Weber Syndrome
- Subcutaneous Panniculitis-like T-cell Lymphoma
- Subependymal Giant Cell Astrocytoma
- Subependymoma
- Succinic Semialdehyde Dehydrogenase Deficiency
- Sudden Infant Death Syndrome
- Sulfite Oxidase Deficiency
- Superficial Spreading Melanoma
- Superior Limbic Keratoconjunctivitis
- Superior Vena Cava Syndrome
- Supraglottic Laryngeal Cancer
- Supratentorial Primitive Neuroectodermal Tumor
- Supratentorial Primitive Neuroectodermal Tumors, Childhood
- Supravalvular Aortic Stenosis
- Susac Syndrome
- Sydenham's Chorea
- Synovial Sarcoma
- Synovitis
- Syringomyelia
- Systemic Candidiasis
- Systemic Capillary Leak Syndrome
- Systemic Mastocytosis
- Systemic Onset Juvenile Idiopathic Arthritis
- T-Lymphocytopenia
- Takayasu Arteritis
- Talipes Equinovarus
- Tangier Disease
- Tay Sachs Disease
- Testicular Cancer
- Testotoxicosis
- Tetanus
- Tetrahydrobiopterin Deficiency
- Tetralogy of Fallot
- Thalassemia
- Thoracic Outlet Syndrome
- Thrombasthenia
- Thrombotic Thrombocytopenic Purpura, Acquired
- Thrombotic Thrombocytopenic Purpura, Congenital
- Thymic Epithelial Tumor
- Thyroid Cancer, Anaplastic
- Thyroid Cancer, Follicular
- Thyroid Cancer, Medullary
- Thyrotoxic Periodic Paralysis
- Tick-borne Encephalitis
- Tongue Cancer
- Toni-Debre-Fanconi Syndrome
- Toxic Epidermal Necrolysis
- Toxocariasis
- Tracheobronchomalacia
- Tracheoesophageal Fistula
- Trachoma
- Transitional Cell Carcinoma
- Transposition of the Great Arteries
- Transverse Myelitis
- Tremor Hereditary Essential, 1
- Treponema Infection
- Trichotillomania
- Trichuriasis
- Tricuspid Atresia
- Trigeminal Neuralgia
- Trigger Thumb
- Trisomy 13
- Trisomy 18
- Tropical Sprue
- Trypanosomiasis, Human East-African
- Tuberculosis
- Tuberculous Meningitis
- Tuberous Sclerosis
- Tubular Aggregate Myopathy
- Tufted Angioma
- Tufting Enteropathy
- Tularemia
- Turner Syndrome
- Twin Twin Transfusion Syndrome
- Tylosis
- Typhoid Fever
- Typhus
- Tyrosinemia Type 1
- Ulcerative Proctitis
- Unverricht-Lundborg Disease
- Urachal Cancer
- Urea Cycle Disorders
- Urethral Cancer
- Usher Syndrome
- Usher Syndrome Type 3
- Usher Syndrome, Type 1
- Usual Interstitial Pneumonia
- Uterine Sarcoma
- Uveal Diseases
- VACTERL Association
- Vaginal Cancer
- Variegate Porphyria
- Venezuelan Equine Encephalitis
- Ventricular Septal Defects
- Vernal Keratoconjunctivitis
- Vertical Talus, Congenital
- Viral Hemorrhagic Fever
- Virus Associated Hemophagocytic Syndrome
- Visceral Steatosis
- VLCAD Deficiency
- Vogt-Koyanagi-Harada Syndrome
- Von Hippel-Lindau Syndrome
- Vulvar Cancer
- Vulvar Vestibulitis Syndrome
- WAGR Syndrome
- Waldenstrom Macroglobulinemia
- Walker-Warburg Syndrome
- Warm Antibody Hemolytic Anemia
- Watermelon Stomach
- Watson Syndrome
- WDHA Syndrome
- Weber Syndrome
- Wegener's Granulomatosis
- Wells Syndrome
- Werner's Syndrome
- Wernicke-Korsakoff Syndrome
- West Nile Encephalitis
- West Nile Virus
- West Syndrome
- Western Equine Encephalitis
- WHIM Syndrome
- Whooping Cough
- Williams Syndrome
- Wilms' Tumor
- Wilson Disease
- Wiskott Aldrich Syndrome
- Wolff-Parkinson-White Syndrome
- Wolfram Syndrome
- Wolman Disease
- X-linked Adrenal Hypoplasia Congenita
- X-linked Agammaglobulinemia
- X-linked Congenital Stationary Night Blindness
- X-linked Hypohidrotic Ectodermal Dysplasia
- X-linked Ichthyosis
- X-linked Lymphoproliferative Syndrome
- X-linked Mental Retardation and Macro-orchidism
- X-linked Severe Combined Immunodeficiency
- Xeroderma Pigmentosum
- Yellow Fever
- Yolk Sac Tumor
- Zellweger Syndrome
- Zollinger-Ellison Syndrome
- Zygomycosis
- 21-hydroxylase Deficiency
- 22q11.2 Deletion Syndrome
- 22q13.3 Deletion Syndrome
- 47 XXX Syndrome
- 47, XYY Syndrome
- 5-Nucleotidase Syndrome
- 5q- Syndrome