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Select disease or condition
19q13.11 Microdeletion Syndrome
1p36 Deletion Syndrome
22q11 DiGeorge Syndrome
22q13 deletion / Phelan-McDermid Syndrome
2q23.1 Microdeletion Syndrome
2q37 Microdeletion Syndrome
3M syndrome
48,XXYY syndrome
4H Syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia
5q14.3 Microdeletion Syndrome
Aarskog-Scott Syndrome
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome
Acanthamoeba keratitis
Acanthosis Nigricans
Acatalasemia
Achalasia
Achard Thiers Syndrome
Achondrogenesis
Achondroplasia
Achromatopsia
Acne
Acquired Brain Injury (ABI)
Acrodermatitis Enteropathica
Acrodysostosis
Acrogeria - Gottron Syndrome
Acromegaly
Acromicric Dysplasia
ACTH Deficiency
Actinomycosis
Acute Disseminated Encephalomyelitis
Acute lymphocytic leukemia (ALL)
Acute myelogenous leukemia (AML)
Acute Necrotizing Ulcerative Gingivitis
Acute Respiratory Distress Syndrome
Adamantinoma
Adams-Oliver syndrome
Addison Disease
Adenoid Cystic Carcinoma
Adenomyosis
Adiposis dolorosa
Adrenal Cortical Carcinoma (ACC)
Adrenal Insufficiency
Adult Polyglucosan Body Disease (APBD)
Adult T-cell leukemia/lymphoma ATL
Adult-onset Stills Disease
Afibrinogenemia
African Iron Overload
Agammaglobulinemia
Agenesis Of Corpus Callosum
Agranulocytosis
Ahumada-Del Castillo Syndrome
Aicardi Syndrome
Alagille Syndrome
Alexithymia
Alkaptonuria
Allan-Herndon-Dudley Syndrome
Allodynia
Alopecia
Alpers-Huttenlocher Syndrome (AHS)
Alpha 1-antitrypsin deficiency
Alport Syndrome
Alström syndrome
Alternating Hemiplegia Of Childhood
Alveolar Capillary Dysplasia
Alveolar Soft Part Sarcoma
Alzheimer's Disease
Ameloblastoma
Amelogenesis Imperfecta
Amniotic Band Syndrome
Amyloidosis
Amyotrophic lateral sclerosis ALS
Anal Cancer
Andersen-Tawil syndrome
Androgen Insensitivity Syndrome
Anemia
Anencephaly
Angelman Syndrome
Aniridia
Ankylosing Spondylitis
Anodontia
Anorexia
Anosmia
Anterior Cutaneous Nerve Entrapment Syndrome (ACNES)
Anthrax
Anti-NMDA Receptor Encephalitis
Antiphospholipid / Hughes Syndrome
Antisynthetase syndrome
Antithrombin III deficiency
Antley Bixler Syndrome
Anxiety
Aortic aneurysm
Aortic Dissection
Apert Syndrome
Aplasia Cutis Congenita (ACC)
Aplastic Anemia
Appendix Cancer
Apraxia
Aquagenic Syringeal Acrokeratoderma
Aquagenic urticaria
Arachnoiditis
Arginase Deficiency/Argininemia
Argininosuccinic Aciduria
Arnold Chiari
Arterial Tortuosity Syndrome
Arteriovenous Malformation AVM
Arthrogryposis
Asherman's Syndrome
Asherson’s Syndrome / Catastrophic Antiphospholipid Syndrome
Aspartylglycosaminuria
Asperger Syndrome
Aspergillosis
Asthma
Ataxia
Atopic Dermatitis and Eczema
Atrial Septal Defects
Attention Deficit Hyperactivity Disorder
Autism
Autoimmune Hemolytic Anemia / Cold Agglutinin Disease
Autoimmune Lymphoproliferative Syndrome
Autoimmune Polyendocrine Syndrome
Autosomal recessive multiple pterygium syndrome / Escobar syndrome
Avoidant / Restrictive Food Intake Disorder (ARFID)
Axenfeld-Rieger Syndrome
Babesiosis
Balantidiasis
Baller-Gerold Syndrome
Balo concentric sclerosis
Barakat Syndrome
Bardet-Biedl Syndrome
Barth Syndrome
Bartholin's Cyst
Bartter's Syndrome
Batten Disease
Becker muscular dystrophy
Beckwith-Wiedemann Syndrome
Behcet Syndrome
Bejel / Endemic Syphilis
Bells Palsy
Benign Hereditary Chorea BHC
Benign Paroxysmal Positional Vertigo
Benign Paroxysmal Tonic Upgaze
Bertolotti's Syndrome
Berylliosis
Best Vitelliform Macular Dystrophy
Bethlem Myopathy
Bicuspid Aortic Valve
Bilateral Renal Agenesis
Bile Acid Synthesis Disorders
Bile Duct Cancer
Biliary Atresia
Binder's syndrome
Biotinidase Deficiency
Bipolar Disorder
Birt-Hogg-Dubé syndrome
Björnstad Syndrome
Blackfan Diamond Anemia DBA
Bladder Cancer
Bladder Exstrophy
Blastomycosis
Bloom Syndrome
Blue Diaper Syndrome
Blue Rubber Bleb Nevus syndrome
Borderline personality disorder (BPD)
Börjeson-Forssman-Lehman Syndrome
Botulism
Boutonneuse Fever
Bowen-Conradi syndrome
BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome
Brachymetatarsia
Brain Tumor
Branchio Oto Renal Syndrome
Breast Cancer
Brill-Zinsser Disease
Brody's Syndrome
Bronchiectasis
Bronchomalacia
Bronchopulmonary Dysplasia (BPD)
Brown Séquard Syndrome
Brown Syndrome
Brucellosis
Brugada Syndrome
Bubonic plague
Budd-Chiari Syndrome
Buerger’s Disease
Bulimia
Burning Mouth Syndrome
Buruli Ulcer
C3 Glomerulopathy C3G
Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy)
Campomelic Dysplasia (CMD)
Campylobacteriosis
Camurati-Engelmann disease
Candidiasis
Carbon Monoxide Poisoning
Carcinoid Syndrome
Cardiac syndrome X / Microvascular Angina
Cardiofaciocutaneous / Cfc Syndrome
Cardiomyopathy
Carney Complex
Carnosinemia
Caroli Disease
Carotid Artery Dissection
Carpenter Syndrome
Carrion's Disease / Oroya Fever
Cartilage-hair hypoplasia (CHH)
Castleman disease
Cat Eye Syndrome
Cat-scratch Disease
Catamenial Pneumothorax
Catel Manzke Syndrome
Cavernous Malformation
CDKL5
Celiac Disease
Central Core Disease
Central Pain Syndrome
Centronuclear Myopathy
Cerebellar Agenesis
Cerebral Amyloid Angiopathy
Cerebral Palsy
Cerebrocostomandibular Syndrome
Cervical Dystonia / Spasmodic Torticollis
Chancroid
Chandler’s Syndrome
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Chediak Higashi Syndrome
Cherubism
Chikungunya
Chilaiditi Syndrome
Chilblains (Perniosis)
Chlamydia Infection
Cholangiocarcinoma
Cholecystitis
Cholera
Cholesteatoma
Cholesteryl Ester Storage Disease
Chondrodysplasia Punctata
Chordoma
Chorea-acanthocytosis ChAc
Choroideremia
Chronic Cerebrospinal Venous Insufficiency
Chronic Fatigue Syndrome / M.E.
Chronic Granulomatous Disease
Chronic Hiccups
Chronic Inflammatory Demyelinating Polyneuropathy
Chronic Intestinal Pseudo-Obstruction
Chronic Kidney Disease
Chronic lymphocytic leukemia (CLL)
Chronic myelogenous leukemia (CML)
Chronic Recurrent Multifocal Osteomyelitis
Churg Strauss Syndrome
Ciguatera
CINCA syndrome
Cirrhosis
Cleidocranial Dysplasia
Cloacal exstrophy
Clostridium Difficile Infection
Cloves Syndrome
Cluster Headaches
Coats Disease
Cockayne Syndrome
Coffin Siris Syndrome
Coffin-Lowry syndrome
Cogan syndrome
Cohen Syndrome
Cold Urticaria
Colloid cyst
Coloboma
Colon Cancer
Common Variable Immunodeficiency
Complex Post Traumatic Stress Disorder (CPTSD)
Cone-rod Dystrophies
Congenital Adrenal Hyperplasia (CAH)
Congenital bilateral perisylvian syndrome
Congenital Central Hypoventilation Syndrome
Congenital Fiber Type Disproportion
Congenital Generalized Lipodystrophy
Congenital Hyperinsulinism
Congenital Insensitivity To Pain With Anhidrosis (CIPA)
Congenital Nephrotic Syndrome Finnish Type
Congenital Sucrase Isomaltase Deficiency
Conjoined twins
Conversion Disorder
COPD
Cor Triatriatum
Corn Maize Allergy / Intolerance
Cornelia de Lange Syndrome
Coronavirus COVID 19 (SARS-CoV-2)
Costello Syndrome
Costochondritis / Tietze Syndrome
Cowden syndrome
Craniosynostosis
Creutzfeldt Jakob Disease
Cri Du Chat Syndrome
Crigler-Najjar syndrome
Critical limb ischemia
Crohn's disease
Cronkhite-Canada Syndrome
Crouzon syndrome
CRPS Complex Regional Pain Syndrome
Cryoglobulinemia
Cryopyrin-associated periodic syndrome
Cubital Tunnel Syndrome
Cushing Syndrome
Cutis Laxa
Cutis marmorata telangiectatica congenita
Cyclic Neutropenia
Cyclic vomiting syndrome
Cystic Fibrosis
Cysticercosis
Cystinosis
Cystinuria
Cytochrome C Oxidase Deficiency
Cytomegalovirus Infection
Dandy-Walker Syndrome
Danon disease
Darier's disease
De Santis Cacchione Syndrome
Deaf People
Degenerative Disc Disease
Degos Disease
Dejerine Sottas Disease
Delayed Pressure Urticaria
Delayed Sleep Phase Disorder (DSPD)
Dengue Fever
Dent Disease
Dependent personality disorder (DPD)
Depersonalization Disorder
Depression
Dermatillomania
Dermatitis Herpetiformis
Dermatofibrosarcoma Protuberans (DFSP)
Dermatomyositis and Polymyositis
Desmoid Tumor
Developmental coordination disorder (DCD) Dyspraxia
Devic Syndrome / NMO
Dextrocardia
Diabetes
Diabetes insipidus
Diabetic Foot
Diastrophic Dysplasia
Didelphys uterus
Diphtheria
Diverticulitis
Door Syndrome
Doose Syndrome
Down Syndrome
Dracunculosis
Dravet Syndrome
Duane Syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Dupuytrens Contracture
Dyggve Melchior Clausen Syndrome
Dysautonomia / POTS
Dyscalculia
Dysequilibrium Syndrome
Dysferlinopathy - Miyoshi Myopathy
Dysgraphia
Dyskeratosis congenita
Dyslexia
Dysplasia Epiphysealis Hemimelica / Trevor Disease
Dystonia Disorder
Eales Disease
EAST syndrome
Ebsteins Anomaly
Ectodermal Dysplasia
Ectrodactyly
Edwards syndrome
Ehlers Danlos
Ehrlichiosis / Canine Rickettsiosis
Eisenmenger Syndrome
Elastofibroma Dorsi
Electromagnetic Hypersensitivity
Elephantiasis
Ellis Van Creveld Syndrome
Empty Sella Syndrome
Encephalitis
Encephalocele
Endometrial cancer
Endometriosis
Enterobiasis
Eosinophilic esophagitis
Eosinophilic Fasciitis
Eosinophilic Gastroenteritis
Epidermolysis Bullosa
Epidural Lipomatosis
Epilepsy
Erb's Palsy
Erdheim Chester Disease
Erysipelas
Erythema Multiforme
Erythromelalgia
Esophageal Atresia
Esophageal cancer
Esophageal Spasm
Essential Thrombocythemia
Essential Tremor
Eumycetoma
Evans Syndrome
Ewings sarcoma
Fabry disease
Factor V Deficiency
Factor V Leiden
Factor VII Deficiency
Factor XIII Deficiency
Familial Adenomatous Polyposis
Familial Hypercholesterolemia
Familial Mediterranean Fever
Familial Partial Lipodystrophy
Fanconi Anemia
Farber disease
Fasciolosis
Fatal Familial Insomnia
Febrile infection-related epilepsy syndrome - FIRES
Felty Syndrome
Femoral Facial Syndrome
Fetal Alcohol Syndrome Fas
Fetal Hydantoin Syndrome
Fetal Valproate Syndrome
Fibrodysplasia ossificans progressiva
Fibromuscular dysplasia
Fibromyalgia
Fibrosing Mediastinitis
Fibrous Dysplasia
Fibular hemimelia
Filariasis
Filippi Syndrome
Fitz Hugh Curtis Syndrome
Flammer syndrome
Floating-Harbor syndrome
Fluoroquinolone Toxicity
Focal Dermal Hypoplasia
Food Protein-Induced Enterocolitis Syndrome
Fountain Syndrome
Fox Fordyce Disease
FoxG1 Syndrome
Fragile X Syndrome
Fraser Syndrome
Freeman Sheldon Syndrome
Frey Syndrome
Friedreich Ataxia
Froelich’s Syndrome / Adiposogenital Dystrophy
Frontofacionasal Dysplasia
Frontonasal Dysplasia
Frontotemporal Degeneration
Fructose Intolerance
Fryns Syndrome
Fuchs dystrophy
Fucosidosis
Galactosemia
Gallstones
Gastric Lymphoma
Gastritis
Gastroesophageal Reflux Disease
Gastroparesis
Gastroschisis
Gaucher Disease
Geographic Tongue
Gerstmann Syndrome
Gestational Pemphigoid
Gestational trophoblastic disease
Gianotti Crosti Syndrome
Giant Cell Arteritis (GCA)
Gilberts syndrome
Gillespie syndrome
Gingivitis
Gitelman syndrome
Glanzmanns thrombasthenia
Glaucoma
Glioblastoma multiforme
Glioma
Glucose-6-Phosphate Dehydrogenase Deficiency G6pd
Glucose-Galactose Malabsorption
GLUT1 deficiency
Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1
Glutathione Synthetase Deficiency
Glycogen Storage Disease
GM1 Gangliosidosis
Goldenhar Syndrome
Gonorrhea
Goodpasture syndrome
Gorham Stout disease
Gorlin-Chaudhry-Moss Syndrome
Graft Versus Host Disease
Granuloma Annulare
Granuloma Inguinale / Donovanosis
Granulomatosis with Polyangiitis (GPA)
Granulomatous Mastitis
Graves disease
Greig Cephalopolysyndactyly Syndrome
Grover’s Disease / Transient Acantholytic Dermatosis
Growth Hormone Deficiency
Guillain-Barre Syndrome
Haemophilia
Haim-Munk Syndrome
Hairy Cell Leukemia
Hajdu-Cheney Syndrome
Hallermann Streiff Syndrome
Hallucinogen Persistent Perception Disorder
Hanhart Syndrome / Hypoglossia-Hypodactyly Syndrome
Hantavirus Pulmonary Syndrome (HPS)
Hartnup Disease
Hashimotos Disease
Hay-Wells Syndrome (AEC)
HELLP Syndrome
Hemicrania Continua
Hemifacial Spasm (HFS)
Hemimegalencephaly
Hemolytic-uremic Syndrome
Henoch-Schönlein purpura
Hepatic Encephalopathy
Hepatitis
Hepatorenal Syndrome
Hereditary Angioedema
Hereditary Fructose Intolerance
Hereditary Hemorrhagic Telangiectasia
Hereditary Leiomyomatosis and Renal Cell Carcinoma
Hereditary multiple exostoses
Hereditary Neuropathy With Liability To Pressure Palsies HNPP
Hereditary Spastic Paraplegia
Hereditary Spherocytosis
Hereditary Thrombophilia due to Congenital Protein S Deficiency
Hermansky-Pudlak syndrome
HFE hereditary haemochromatosis
Hiatus Hernia
Hidradenitis Suppurativa
High Myopia
Hirschsprung Disease
Histaminosis / Histamine Intolerance
Histidinemia
Histoplasmosis
HIV AIDS
Hodgkin's lymphoma
Holmes-Adie Syndrome
Holoprosencephaly
Holt Oram Syndrome
Homocystinuria
Horner's Syndrome
Human Granulocytic Anaplasmosis
Human HOXA1 Syndromes
Hunter syndrome
Huntingtons Disease
Hurler Syndrome MPS1H
Hydranencephaly
Hydrocephalus
Hyper IgE Syndrome
Hyper IgM Syndrome
Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS)
Hyperacusis
Hyperekplexia
Hyperemesis Gravidarum
Hypereosinophilic Syndrome
Hyperferritinemia Cataract Syndrome
Hyperhidrosis
Hyperkalemic periodic paralysis
Hyperlipoproteinemia Type III
Hyperostosis Frontalis Interna
Hyperparathyroidism
Hyperprolinemia Type I
Hyperprolinemia Type II
Hypersensitivity Pneumonitis
Hyperthyroidism
Hypochondroplasia
Hypokalemia
Hypokalemic periodic paralysis
Hypomelanosis Of Ito
Hypoparathyroidism
Hypophosphatasia
Hypoplastic Left Heart Syndrome
Hypothalamic Hamartoma
Hypothyroidism
Hypotrichosis with Juvenile Macular Degeneration
I Cell Disease
Ichthyosis
Idic 15
Idiopathic Angioedema
Idiopathic Hypersomnia
Idiopathic Pulmonary Hemosiderosis
Idiopathic Subglottic Stenosis
Idiopathic Thrombocytopenic Purpura
IgA nephropathy
Imperforate anus
Inappropriate Sinus Tachycardia
Inclusion Body Myositis
Incontinentia Pigmenti
Infantile Myofibromatosis
Infantile Neuroaxonal Dystrophy
Infectious arthritis / Septic arthritis
Insulinoma
Interstitial Cystitis
Intracranial Hypertension
Intrauterine Growth Restriction IUGR
Irritable Bowel Syndrome
Isaac syndrome
Isotretinoin Syndrome
Isovaleric acidemia
Ivemark Syndrome
Jackson-Weiss Syndrome
Jacobsen Syndrome
Jansen's metaphyseal chondrodysplasia JMC
Jarcho-Levin Syndrome
Jejunal Atresia
Jervell And Lange-Nielsen Syndrome
Johanson-Blizzard syndrome
Joubert Syndrome
Juberg-Marsidi Syndrome
Jumping Frenchmen of Maine
Juvenile Hemochromatosis
Juvenile Hyaline Fibromatosis
Juvenile Idiopathic Arthritis
Juvenile Pilocytic Astrocytoma
Juvenile polyposis syndrome
Kabuki syndrome
Kallmann Syndrome
Kasabach-Merritt syndrome
Kawasaki Disease
KBG Syndrome
KCNK9 Imprinting Syndrome
KCNQ2 Encephalopathy
Kennedy Disease
Kenny-Caffey Syndrome
Keratitis Ichthyosis Deafness KID Syndrome
Keratoconus
Keratomalacia
Keratosis Seborrheica
Kernicterus
Kidney Cancer
kidney stones
Kienbock Disease
Kikuchi-Fujimoto Disease
Kleine-Levin syndrome
Klinefelter Syndrome
Klippel-Feil Syndrome
Klippel-Trénaunay-Weber Syndrome
Kluver-Bucy Syndrome
Kniest Dysplasia
Köhler Disease
Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome
Kostmann Syndrome
LADD syndrome
Lambert-Eaton myasthenic syndrome
Landau-Kleffner Syndrome
Langerhans Cell Histiocytosis
Larsen syndrome
Laryngeal Dystonia
Laryngomalacia
Learning Disability
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Ledderhoses Disease / Plantar Fibromatosis
Legg-Calvé-Perthes disease
Legionnaires' Disease
Leishmaniasis
Lemierres syndrome
Lennox-Gastaut syndrome
Lenz Microphthalmia Syndrome
Leprechaunism
Leprosy
Leptospirosis
Leri Pleonosteosis
Léri-weill Dyschondrosteosis
Lesch-Nyhan Syndrome
Leukodystrophy
Levy-Yeboa Syndrome
Li-Fraumeni syndrome
Lichen Planus
Lichen Sclerosus
Limb-girdle muscular dystrophy
Linear and whorled nevoid hypermelanosis
Linear Verrucous Nevus Syndrome
Lipedema
Lipomyelomeningocele
Lissencephaly
Listeriosis
Livedoid vasculopathy
Liver Cancer
Locked In Syndrome
Loeys Dietz syndrome
Long QT Syndrome
Lowe Syndrome
Lung cancer
Lupus
Lyme Disease
Lymphangioleiomyomatosis
Lymphangiomatosis
Lymphatic Malformations
Lymphocytic Infiltrate of Jessner
Lymphoedema
Lymphogranuloma Venereum
Lynch Syndrome
Lysosomal acid lipase deficiency
Machado-Joseph Disease
Macroglossia
Macular Degeneration
Madelung Deformity
Maffucci Syndrome
Mainzer-Saldino syndrome
Major aortopulmonary collateral arteries (MAPCAs)
Mal de debarquement
Mal de Meleda
Malaria
Malignant hyperthermia
Mallory Weiss Syndrome
Mandibuloacral Dysplasia
Mantle Cell Lymphoma
Maple syrup urine disease
Marcus Gunn Syndrome
Marden Walker Syndrome
Marfan Syndrome
Marinesco-Sjögren Syndrome
Maroteaux-Lamy Syndrome
Marshall syndrome - PFAPA
Mastocytosis and MCAS
Maxillofacial Dysostosis
May Hegglin Anomaly
Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)
McCune Albright
MDR3 Deficiency
Measles
Meckel Syndrome
MECP2 Duplication Syndrome
Median Arcuate Ligament Syndrome
Medullary Sponge Kidney
Megalencephalic Leukoencephalopathy With Subcortical Cysts
Megalencephaly Capillary Malformation Polymicrogyria Syndrome (mcap)
Megalocornea Intellectual Disability Syndrome
Meige Syndrome
Melanoma
MELAS Syndrome
Melioidosis
Melkersson-Rosenthal Syndrome
Melnick Needles Syndrome
Melorheostosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Menetrier Disease
Meniere Syndrome
Meningitis
Meningococcal Disease
Menkes Disease
Mercury Poisoning
Mesenchymal Chondrosarcoma
Mesothelioma
Metatropic Dysplasia
Methylmalonic acidemia
Microphthalmia
Microvillus Inclusion Disease
Migraine
Mikulicz Syndrome
Miller Fisher Syndrome
Miller-Dieker syndrome
Minimal change disease
MIRAGE Syndrome
Mitochondrial Myopathy
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Mitral Valve Prolapse Syndrome
Mixed Connective Tissue Disease (MCTD)
Moebius Syndrome
Monilethrix
Monosomy 18p / De Grouchy syndrome
Monosomy 6p25
Monosomy 9p
Morquio Syndrome
Mosaic Trisomy 9
Mowat-Wilson syndrome
Moyamoya
Muckle-Wells Syndrome
Mulibrey Nanism
Multiminicore Myopathy
Multiple Chemical Sensitivity
Multiple Endocrine Neoplasia
Multiple epiphyseal dysplasia
Multiple myeloma
Multiple Sclerosis
Multiple Sulfatase Deficiency
Multiple Systems Atrophy
Mulvihill Smith Syndrome
Mumps
Muscular dystrophy
Myasthenia Gravis
Mycosis Fungoides
Myelodysplastic Syndromes
Myelofibrosis
Myhre Syndrome
Myocarditis
Myofascial Pain Syndrome
Myosclerosis
Myotonic muscular dystrophy
N-Acetylglutamate Synthetase Deficiency
Nager Syndrome
Nail-patella syndrome
Nance-Horan Syndrome
Narcissistic Abuse Victims
Narcolepsy
Necrotizing Enterocolitis NEC
Necrotizing fasciitis
Nelson Syndrome
Nemaline Myopathy
Neonatal Hemochromatosis
Neonatal Herpes
Nephrogenic diabetes insipidus
Nephrogenic Systemic Fibrosis
Netherton syndrome
Neu Laxova Syndrome
Neurodegeneration with Brain Iron Accumulation
Neurofibromatosis
Neuroleptic Malignant Syndrome
Niemann-Pick Disease
Nocardiosis
Nodding disease
Noma
Non-24-Hour Sleep-Wake Disorder
Non-Hodgkin's lymphoma
Non-Verbal Learning Disorder
Nonketotic Hyperglycinemia
Nontuberculous Mycobacterial Lung Disease
Noonan Syndrome
Norrie Disease
Nutcracker syndrome
Obesity
Obsessive Compulsive Disorder (OCD)
Occipital Neuralgia
Ocular Albinism
Ocular Motor Apraxia
Oculo-Dento-Digital Dysplasia
Oculopharyngeal muscular dystrophy
Ogilvie syndrome
Olivopontocerebellar Atrophy
Ollier disease
Omphalitis of Newborn
Omphalocele
Opsoclonus myoclonus syndrome
Optic Nerve Hypoplasia
Oral cancer
Oral-Facial-Digital Syndrome
Organ Transplantation
Ornithine Transcarbamylase Deficiency
Osteitis Condensans ilii
Osteochondritis Dissecans
Osteogenesis Imperfecta
Osteomyelitis
Osteonecrosis
Osteopetrosis
Osteoporosis
Ostomy
Ovarian cancer
Ovotesticular Disorder of Sex Development
Pachydermoperiostosis
Pachygyria
Pachyonychia Congenita
Paget's Disease
Palindromic Rheumatism
Pallister Hall Syndrome
Pallister-Killian Syndrome / Tetrasomy 12p
Palmoplantar Keratoderma
Pancreatic cancer
Pancreatitis
Pancytopenia
Panhypopituitarism
Papillitis
Paramyotonia congenita
Paraneoplastic Neurologic Syndromes
Paratyphoid Fever
Parkinson
Paroxysmal Cold Hemoglobinuria
Paroxysmal Kinesigenic Choreathetosis / Dyskinesia
Paroxysmal nocturnal hemoglobinuria
Paroxysmal Nonkinesigenic Dyskinesia
Parry-Romberg syndrome / Progressive hemifacial atrophy
Pars Planitis
Parsonage-Turner Syndrome
Pectus excavatum
Pediatric Transplantation
Peeling Skin Syndrome
Pemphigoid
Pemphigus
Penta X Syndrome
Pentalogy Of Cantrell
PEPCK Deficiency
Peripheral Neuropathy
Pertussis
Peutz-Jeghers syndrome
Peyronies Disease
Pfeiffer Syndrome
Phenylketonuria
Pheochromocytoma
Phosphoglycerate Kinase Deficiency
Phyllodes tumor
Picks disease
Pierre Robin Syndrome
Pigmented villonodular synovitis
Pinta
Pitt-Hopkins Syndrome
Pituitary tumour
Pityriasis lichenoides et varioliformis acuta
Pityriasis Rosea
Pityriasis Rubra Pilaris
Plantar Fascitis
Plasminogen Deficiency (PLGD)
Pleurisy
PMM2-CDG
Pneumothorax
POEMS syndrome
Poland Syndrome
Polyarteritis Nodosa
Polycystic Kidney Disease
Polycystic Liver Disease
Polycystic Ovary Syndrome
Polycythemia Vera
Polymyalgia Rheumatica
Pontocerebellar Hypoplasia
Porencephaly
Porphyria
Post Polio Syndrome
Postherpetic Neuralgia
Potocki-Lupski syndrome
Prader-Willi Syndrome
Pre-eclampsia
Precocious Puberty
Premenstrual Dysphoric Disorder
Primary Biliary Cholangitis
Primary ciliary dyskinesia
Primary Familial Brain Calcification
Primary Hyperoxaluria
Primary Immunodeficiency
Primary Intestinal Lymphangiectasia
Primary lateral sclerosis
Primary Orthostatic Tremor
Primary Sclerosing Cholangitis
Prinzmetal Angina
Proctitis
Progeria
Progressive multifocal leukoencephalopathy
Progressive Osseous Heteroplasia
Progressive Supranuclear Palsy
Prolactinoma
Propionic Acidemia
Prosopagnosia
Prostate Cancer
Protein C Deficiency
Proteus syndrome
Proximal 16p11.2 Microdeletion Syndrome
Prune Belly Syndrome
Pseudocholinesterase Deficiency
Pseudohyperaldosteronism
Pseudohypoparathyroidism
Pseudomyxoma Peritonei
Pseudoxanthoma Elasticum (PXE)
Psittacosis
Psoriasis
Pulmonary Alveolar Proteinosis
Pulmonary atresia
Pulmonary Fibrosis
Pulmonary Hypertension
Pure Red Cell Aplasia
Pycnodysostosis
Pyelonephritis
Pyoderma Gangrenosum
Pyridoxine-Dependent Epilepsy
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Kinase Deficiency
Q Fever
Rabies
Rabson-Mendenhall Syndrome
Radiation Sickness
Ramsay Hunt Syndrome
Rasmussen's encephalitis
Raynaud's disease
Reactive Arthritis
Reactive Attachment Disorder
Reactive Hypoglycemia
Recurrent Respiratory Papillomatosis
Refractory Celiac Disease
Relapsing Polychondritis
Renal Glycosuria
Restless Leg Syndrome
Retinitis pigmentosa
Retinoblastoma
Retinopathy Of Prematurity
Retroperitoneal Fibrosis
Rett Syndrome
Reye Syndrome
Rheumatic Fever
Rheumatoid Arthritis
Rickets
Ring Chromosome 14 Syndrome
Ring Chromosome 4
Roberts Syndrome
Robinow syndrome
Rocky Mountain Spotted Fever
ROHHAD
Rosacea
Rosai-Dorfman disease
Ross River Virus
Ross Syndrome
Rothmund-Thomson Syndrome
Rotor syndrome
Rubella
Rubinstein-Taybi Syndrome
Russell Silver Syndrome
Ruvalcaba Syndrome
Sacral agenesis / Caudal regression syndrome
Sacrococcygeal Teratoma
Saethre-Chotzen syndrome
Salmonellosis
Sandhoff Disease
Sanfilippo Syndrome
SAPHO syndrome
Sarcoidosis
Scarlet Fever
Scheuermanns disease
Schimke Immuno-Osseous Dysplasia
Schindler disease
Schinzel Giedion Syndrome
Schinzel Syndrome
Schizophrenia
Schnitzler syndrome
Schwartz-Jampel syndrome
Scleroderma
Scleromyxedema
Sclerosing Mesenteritis
Scoliosis
Scott Craniodigital Syndrome
Seasonal Affective Disorder
Seckel Syndrome
Secondary Haemochromatosis
Segawa Syndrome
Selective mutism
Semicircular canal dehiscence syndrome
Sennetsu Fever
Sensory Processing Disorder
Sepiapterin Reductase Deficiency
Setleis Syndrome
Severe combined immunodeficiency
Severe congenital neutropenia
Sheehan Syndrome
Shigellosis
Short Bowel Syndrome
SHORT syndrome
Shprintzen-Goldberg Syndrome
Shwachman Diamond Syndrome
Sialadenitis
Sialidosis
Sickle Cell Anemia
Simian B Virus Infection
Simpson-Golabi-Behmel syndrome
Singleton Merten syndrome
Sinonasal Undifferentiated Carcinoma
Sirenomelia
Situs inversus
Sjogren
Sjögren-Larsson Syndrome
Skin Cancer
Sleep Apnea
Sly Syndrome
Small Fiber Neuropathy
Small for Gestational Age
Small Intestine Bacterial Overgrowth (SIBO)
Smallpox
Smith Magenis Syndrome
Smith-Lemli-Opitz Syndrome
Sneddon Syndrome
Snyder-Robinson Syndrome
Social Anxiety Disorder
Sodoku
Sotos Syndrome
Sphincter of Oddi Dysfunction
Spina bifida
Spinal Muscular Atrophy
Spinal muscular atrophy with respiratory distress type 1
Spinal Stenosis
Spinocerebellar ataxia
Splenomegaly
Spondyloepiphyseal Dysplasia Tarda
Spontaneous Intracranial Hypotension
Sprengel Deformity
Staphylococcal Scalded Skin Syndrome
Stargardt Disease
Stevens Johnson Syndrome
Stickler syndrome
Stiff Person Syndrome
Stomach cancer
Streptococcal Pharyngitis
Sturge Weber Syndrome
Stuttering
Stuve-Wiedemann Syndrome
STXBP1
Subacute Sclerosing Panencephalitis
Succinic semialdehyde dehydrogenase deficiency
Sudden Hearing Loss
Sudden Infant Death Syndrome
Sudden Unexplained Death in Childhood
Sulfite Sensitivity
Superficial siderosis
Superior Mesenteric Artery Syndrome
Susacs syndrome
Sweet Syndrome
Swyer Syndrome / 46 XY Complete Gonadal Dysgenesis
Sydenham Chorea
Synaesthesia
Syringobulbia
Syringomyelia
Systemic Capillary Leak Syndrome
Systemic Primary Carnitine Deficiency
Takayasus Arteritis
Tangier Disease
Tardive Dyskinesia
Tarlov Cyst
Tarsal Tunnel syndrome
Tay-Sachs disease
Temporomandibular Joint Dysfunction
Testicular cancer
Tetanus
Tethered Spinal Cord Syndrome
Tetrahydrobiopterin Deficiency
Tetralogy Of Fallot
Thalassemia
Thanatophoric Dysplasia
Thoracic Outlet Syndrome
Thyroid cancer
Timothy Syndrome
Tinnitus
TNF Receptor Associated Periodic Syndrome
Tolosa Hunt Syndrome
Tonsillitis
Tooth and Nail Syndrome
Tourette Syndrome
Toxic Oil Syndrome
Toxic Shock Syndrome
Toxoplasmosis
Tracheobronchomalacia
Tracheomalacia
Trachoma
Transverse myelitis
Traumatic brain injury (TBI)
Treacher Collins syndrome
Trench Fever
Tricho Dento Osseous Syndrome
Trichorhinophalangeal Syndrome
Trichothiodystrophy
Trichotillomania
Trigeminal Neuralgia
Trimethylaminuria
Triosephosphate Isomerase Deficiency
Triploidy
Trismus Pseudocamptodactyly Syndrome
Trisomy 13 Syndrome / Patau Syndrome
Trisomy 17p
Trisomy 9p
Trisomy X
Tropical Sprue
Truncus Arteriosus
Tuberculosis
Tuberous Sclerosis
Tularemia
Turcot Syndrome
Turner Syndrome
Twin-Twin Transfusion Syndrome
Typhoid Fever
Typhus
Tyrosine Hydroxylase Deficiency
Tyrosinemia Type I
Tyrosinemia type II
Ulcerative colitis
Ullrich Congenital Muscular Dystrophy
Undiagnosed
Undifferentiated Connective Tissue Disease
Unverricht-Lundborg Disease
Urofacial Syndrome
Urticaria pigmentosa
Usher Syndrome
Uterine Carcinosarcoma (MMMT)
Uterine Fibroids
Uterine Leiomyosarcoma
Uveitis
VACTERL/VATER association
Vaginismus
Valinemia
Van der Woude syndrome
Varicocele
Vascular Dementia
Vasculitis
Ventricular Septal Defects
Vernal Keratonconjunctivitis
Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
Vestibular Schwannoma
Vestibular Schwannoma-Acoustic neuroma
Victims of Thalidomide
Visual Agnosia
Visual Snow
Vitiligo
Vocal Cord Dysfunction
Vocal Cord Hemorrhage
Vocal cord nodules
Vogt-Koyanagi-Harada Disease
Von Hippel-Lindau Disease
Von Willebrand Disease
W syndrome
Waardenburgs Syndrome
WAGR Syndrome - 11p Deletion Syndrome
Waldenstrom Macroglobulinemia
Walker-Warburg syndrome
Wallenberg Syndrome
Wandering Spleen
Warm Antibody Hemolytic Anemia
Wartenberg's migratory sensory neuropathy
Weaver Syndrome
Weill Marchesani syndrome
Weismann Netter Stuhl Syndrome
Wernicke-Korsakoff Syndrome
West Nile Virus
West Syndrome
WHIM Syndrome
Whipple Procedure
Whipple's disease
Wieacker Syndrome
Wiedemann-Steiner Syndrome
Wildervanck Syndrome
Williams Syndrome
Wilms Tumor
Wilsons disease
Winchester Syndrome
Wiskott-Aldrich syndrome
WNT4 Deficiency
Wolf Hirschhorn Syndrome
Wolff-Parkinson-White syndrome
Wolfram Syndrome
Wyburn-Mason Syndrome
X Linked Juvenile Retinoschisis
X-linked Hypophosphatemia (XLH)
X-Linked Myopathy with Excessive Autophagy
Xeroderma Pigmentosum
XYY Syndrome
Yaws
Yellow Fever
Yellow Nail syndrome
Yunis Varon Syndrome
Zellweger Spectrum Disorders
Zika Virus
Zimmermann Laband syndrome
Zollinger Ellison Syndrome
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