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19q13.11 Microdeletion Syndrome
1p36 Deletion Syndrome
22q11 DiGeorge syndrom
22q13 vymazání/ Phelan-McDermid Syndrom
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-Syndrom
Achondrogenesis
Achondroplázie
Achromatopsia
Acquired Brain Injury (ABI)
Acrodermatitis Enteropathica
Acrodysostosis
Acrogeria - Gottron Syndrome
Acromicric Dysplasia
ACTH Deficiency
Actinomycosis
Acute Disseminated Encephalomyelitis
Acute Necrotizing Ulcerative Gingivitis
Acute Respiratory Distress Syndrome
Adamantinoma
Adams-Oliver syndrom
Addisonova nemoc
Adenoid Cystic Carcinoma
Adenomyoza
Adie Syndrome
Adiposis dolorosa
Adrenal Cortical Carcinoma (ACC)
Adrenal insufficiency
Adult Polyglucosan Body Disease (APBD)
Adult T-cell leukemia/lymphoma ATL
Afibrinogenemia
African Iron Overload
Agammaglobulinemia
Agenesis Of Corpus Callosum
Agranulocytóza
Ahumada-Del Castillo Syndrom
Aicardi Syndrome
Akné
Akromegalie
Akutní lymfoblastická leukémie (ALL)
Akutní myeloidní leukémie
Akutní radiační syndrom
Albinismo Ocular
Alexitymie
Alkaptonuria
Allan-Herndon-Dudley Syndrome
Allodynia
Alopecia
Alpers-Huttenlocher Syndrome (AHS)
Alpha 1 - nedostatek antitrypsinu
Alportův syndrom
Alström syndrom
Alternating Hemiplegia Of Childhood
Alveolar Capillary Dysplasia
Alveolar Soft Part Sarcoma
Alzheimerova choroba
Ameloblastoma
Amelogenesis Imperfecta
Amniotic Band Syndrome
Amyloidoza
Amyotrofická laterální skleróza
Anal cancer
Andersen-Tawil syndrom
Androgen Insensitivity Syndrome
Anémie
Anencephaly
Aneurysma aorty
Angína
Anglemanův syndrom
Aniridia
Ankolozující spondylitida
Anodontia
Anorexie
Anterior Cutaneous Nerve Entrapment Syndrome (ACNES)
Anthrax
Anti-NMDA Receptor Encephalitis
Antifosfpolipidní /Hughes syndrom
Antisynthetase syndrom
Antithrombin III deficit
Aortální disekce
Apert syndrom
Aplastická anémie
Aplazie cutis congenita
Apraxie
Aquagenic kopřivka
Aquagenic Syringeal Acrokeratoderma
Arachnoiditis
Arginasa nedostatek/Argininemia
Argininosuccinic acidurie
Arnold Chiari
Arterial Tortuosity Syndrome
Arteriovenous Malformation Avm
Artézie jícnu
Arthrogryposis
Asherman's Syndrome
aspartylglucosaminuria
Asperger syndrom
Aspergillosis
Astma
Ataxie
Atopická dermatitida a ekzém
Atrial Septal Defects
Autismus
Autoimmune Lymphoproliferative Syndrome
Autoimmune Polyendocrine Syndrome
Autoimunní hemolytická anémie / Cold Agglutinin Disease
Autosomal recessive multiple pterygium syndrome / Escobar syndrome
Avoidant / Restrictive Food Intake Disorder (ARFID)
Axenfeld-Rieger Syndrome
Babesiosis
Balantidiasis
Baller-Gerold Syndrome
Barakat Syndrome
Bardet-Biedl syndrom
Barth Syndrome
Bartholin's Cyst
Bartter's Syndrome
Batten nemoc
Becker muskulární dystrofie
Beckwith- Wiedermann syndrom
Behcet syndrom
Bejel / Endemic Syphilis
Bellova obrna
Benign Hereditary Chorea BHC
Benign Paroxysmal Positional Vertigo
Benign Paroxysmal Tonic Upgaze
Bertolotti's Syndrome
Berylliosis
Best Vitelliform Macular Dystrophy
Bethlem Myopathy
Běžná variabilní imunodeficience (CVID)
Bicuspid Aortic Valve
Bilateral Renal Agenesis
Bile Acid Synthesis Disorders
Bile Duct Cancer
Biliární artrézie
Binder's syndrome
Biotinidase Deficiency
Bipolární porucha
Birt-Hogg-Dubé syndrom
Björnstad Syndrome
Blackfan Diamond Anemia Dba
Bladder Cancer
Blastomycosis
Bloom Syndrome
Blue Diaper Syndrome
Blue Rubber Bleb Nevus syndrome
Borderline personality disorder (BPD)
Börjeson-Forssman-Lehman Syndrome
Botulismus
Boutonneuse Fever
Bowen-Conradi syndrome
BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome
Brachymetatarsia
Branchio Oto Renal Syndrome
Břišní Tyfus
Brody's Syndrome
Bronchiektázie
Bronchomalacia
Bronchopulmonary Dysplasia (BPD)
Brown Syndrome
Brown-Séquardův syndrom
Brucelóza
Budd-Chiari syndrom
Buerger’s Disease
Bulimie
Burning Mouth Syndrome
C3 Glomerulopathy C3G
Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy)
Campomelic Dysplasia (CMD)
Camurati-Engelmann nemoc
Carcinoid Syndrome
Cardiac syndrome X / Microvascular Angina
Cardiofaciocutaneous / Cfc Syndrome
Carney Complex
Carnosinemia
Caroli Disease
Carotid Artery Dissection
Carpenter Syndrome
Carrion's Disease / Oroya Fever
Castleman disease
Cat Eye Syndrome
Cat-scratch Disease
Catamenial Pneumothorax
Catel Manzke Syndrome
Cavernous Malformation
CDKL5
Cefalalgie
Celiakie
Central Core Disease
Central Pain Syndrome
Centronuclear Myopathy
Cerebellar Agenesis
Cerebral Amyloid Angiopathy
Cerebrocostomandibular Syndrome
Černý kašel
Cervical Dystonia / Spasmodic Torticollis
Červovitý přívěsek - appendix
Chandler’s Syndrome
Charcot Marie onemocnění zubů
Charge Syndrome
Chediak Higashi Syndrome
Chikungunya
Chilaiditi Syndrome
Chilblains (Perniosis)
Chlamydióza
Cholangiocarcinoma
Cholecystitis
Cholera
Cholesteatoma
Cholesteryl Ester Storage Disease
Chondrodysplasia Punctata
Chordoma
Chorea-acanthocytosis ChAc
Choroba Brill-Zinsser
Choroideremia
Chronic Granulomatous Disease
Chronic Hiccups
Chronic Intestinal Pseudo-Obstruction
Chronic Recurrent Multifocal Osteomyelitis
Chronická lymfocytární leukémie
Chronická myelogenní leukémie
Chronická obstrukční plicní nemoc
Chronická zánětlivá demyelinizační polyneuropatie
Chronická žilní mozkomišní nedostatečnost
Chronické renální selhání
Chronický únavový syndrom / Myalgic encefalopatie
Churg Strauss Syndrome
Ciguatera
CINCA syndrome
Cleidocranial Dysplasia
Cloacal exstrophy
Clostridium Difficile
Cloves Syndrome
Cockayne Syndrome
Coffin Siris Syndrome
Coffin-Lowry syndrom
Cogan syndrom
Cohen Syndrome
Colloid cysta
Coloboma
Congenital Adrenal Hyperplasia (CAH)
Congenital Fiber Type Disproportion
Congenital Generalized Lipodystrophy
Congenital Hyperinsulinism
Congenital Insensitivity To Pain With Anhidrosis (CIPA)
Congenital Nephrotic Syndrome Finnish Type
Conversion Disorder
Cor Triatriatum
Corn Allergy / Intolerance
Cornelia de Lange syndrom
Costello Syndrome
Costochondritis / Tietze Syndrom
Cowden syndrom
Creutzfeldt-Jakobova nemoc
Cri du chat syndrom
Crigler-Najjar syndrom
Critical limb ischemia
Crohnova nemoc
Cronkhite-Canada Syndrome
Crouzon syndrom
Cryoglobulinemia
Cryopyrin-associated periodic syndrome
Cukrovka
Cukrovka insipidus
Cushingův syndrom
Cutis Laxa
Cutis marmorata telangiectatica congenita
Cyclic Neutropenia
Cysticerkóza
Cystická fibroza
Cystinoza
Cystinuria
Cytochrome C Oxidase Deficiency
Cytomegalovirus
Dandy Walker syndrom
Danon nemoc
Darier's disease
De Santis Cacchione Syndrome
Dědičná hemoragická Telangiectasia
Dědičná spastická paraplegie
Dědičné vícenásobné exostózy
Dědičný angioedém
Deficit pozornosti s hyperaktivitou
Degenerative Disc Disease
Degosova Nemoc
Dehiscence syndrom půlkruhového kanálu
Dejerine Sottas Disease
Delayed Pressure Urticaria
Děložní Carcinosarcoma
Děložní myomy
Dengue
Dent Disease
Dependent personality disorder (DPD)
Depersonalization Disorder
Deprese
Dermatilománie
Dermatitis Herpetiformis
Dermatofibrosarcoma Protuberans (DFSP)
Dermatomyositis and Polymyositis
Desmoid Tumor
Devic syndrom
Dextrokardie
Diabetická noha
Diastrophic Dysplasia
Didelphys děloha
Divertikulitida
Door Syndrome
Doose syndrom
Dospělý počátek Stilovi nemoci
Downův syndrom
Drakunkulóza
Dravet syndrom
Duane Syndrome
Dubin-Johnson syndrom
Dubowitz syndrom
Duchenne svalová dystrofie
Dupuytrens kontraktura
Dyggve Melchior Clausen Syndrome
Dýmějový mor
Dysautonomie / POTS
Dysequilibrium Syndrome
Dysferlinopathy - Miyoshi Myopathy
Dysfunce čelistního kloubu
Dysgrafie
Dyskalkulie
Dyskeratosis vrozená
Dyslexie
Dysplasia Epiphysealis Hemimelica / Trevor Disease
Dyspraxie
Dystonie porucha
Dystrofie kuželové tyče
Eales Disease
EAST syndrom
Ebstein anomálie
Ectodermal Dysplasia
Ectrodactyly
Edwards syndrom
Ehlers Danlos
Ehrlichiosis / Canine Rickettsiosis
Eisenmenger Syndrome
Elastofibroma Dorsi
Electromagnetic Hypersensitivity
Elefantiáza
Ellis Van Creveld Syndrome
Empty Sella Syndrome
Encefalitida
Encephalocele
Encephalopathy due to GLUT1 deficiency
Endometriální karcinom
Endometriosis
Enterobiasis
Eosinophilic esophagitis
Eosinophilic Fasciitis
Eosinophilic Gastroenteritis
Epidermolysis Bullosa
Epidural Lipomatosis
Epilepsie
Erb's Palsy
Erdheim Chester nemoc
Erysipel
Erythema Multiforme
Erythromelalgia
Esophageal Spasm
Essential Thrombocythemia
Essential Tremor
Eumycetoma
Evans syndrom
Ewingův sarkom
Exstrophy močového měchýře
Exsudativní retinitis
Fabryho choroba
Factor V Deficiency
Factor V Leiden
Factor VII Deficiency
Factor XIII Deficiency
Fallotova Tetralogie
Familial Hypercholesterolemia
Familial Partial Lipodystrophy
Familiární Adenomatózní Polypóza
Familiární středomořská horečka
Fanconi anémie
Farber disease
Fasciolóza
Fatální Familiární Insomnie
Febrile infection-related epilepsy syndrome - FIRES
Feltyho syndrom
Femoral Facial Syndrome
Feochromocytom
Fetal Hydantoin Syndrome
Fetal Valproate Syndrome
Fetální Alkoholový Syndrom
Fibrodysplasia ossificans progressiva
Fibromuskulární dysplazie
Fibromyalgia
Fibrosing Mediastinitis
Fibrous Dysplasia
Fibular hemimelia
Filariasis
Filippi Syndrome
Fitz Hugh Curtis Syndrome
Flammer syndrome
Floating-Harbor syndrom
Fluoroquinolone Toxicity
Focal Dermal Hypoplasia
Food Protein-Induced Enterocolitis Syndrome
Fountain Syndrome
Fox Fordyce Disease
FoxG1 Syndrome
Fragile X Syndrome
Frambézie
Fraser Syndrome
Freeman Sheldon Syndrome
Frey Syndrome
Friedreich ataxie
Froelich’s Syndrome / Adiposogenital Dystrophy
Frontofacionasal Dysplasia
Frontonasal Dysplasia
Frontotemporal Degeneration
Fructose Intolerance
Fryns Syndrome
Fuchs dystrophy
Fucosidosis
Galactosemia
Gastric Lymphoma
Gastroparesis
Gastroschisis
Geographic Tongue
Gerstmann Syndrome
Gestational Pemphigoid
Gianotti Crosti Syndrome
Gilberts syndrom
Gillespie syndrom
Gitelman syndrom
Glanzmannova thrombasthenia
Glioblastoma multiforme
Gliom
Glucose-6-Phosphate Dehydrogenase Deficiency G6pd
Glucose-Galactose Malabsorption
Glutaryl-CoA dehydrogenase deficiency
Glutathione Synthetase Deficiency
GM1 Gangliosidosis
Goldenhar syndrom
Goodpasture syndrom
Gorham Stout nemoc
Gorlin-Chaudhry-Moss Syndrome
Graft Versus Host Disease
Granuloma Annulare
Granuloma Inguinale
Granulomatosis with Polyangiitis (GPA)
Granulomatous Mastitis
Graves nemoc
Greig Cephalopolysyndactyly Syndrome
Grover’s Disease / Transient Acantholytic Dermatosis
Growth Hormone Deficiency
Guacher nemoc
Guillain-Barre Syndrom
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 nemoc
Hay-Wells Syndrome (AEC)
HELLP syndrome
Hemicrania Continua
Hemifacial Spasm (HFS)
Hemimegalencephaly
Hemofilie
Hemolytic-uremic Syndrom
Henochova-Schönleinova purpura
Hepatic Encephalopathy
Hepatorenal Syndrome
Hereditary Fructose Intolerance
Hereditary Leiomyomatosis and Renal Cell Carcinoma
Hereditary Neuropathy With Liability To Pressure Palsies HNPP
Hereditary Spherocytosis
Hereditary Thrombophilia due to Congenital Protein S Deficiency
Hermansky-Pudlak syndrom
HFE hereditary haemochromatosis
Hiatus kýly
Hidradenitis Suppurativa
Hirschsprung nemoc
Histidinemia
Histoplazmóza
HIV AIDS
Hodgkinův lymfom
Holoprosencefalie
Holt Oram Syndrome
Homocystinuria
Horner's Syndrome
Human Granulocytic Anaplasmosis
Human HOXA1 Syndromes
Hunterův syndrom
Huntingtonova choroba
Hurler Syndrome MPS1H
Hydranencephaly
Hydrocephalus
Hyper IgE Syndrom
Hyper IgM Syndrome
Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS)
Hyperacusis
Hyperekplexia
Hyperemesis Gravidarum
Hypereosinophilic Syndrome
Hyperferritinemia Cataract Syndrome
Hyperhidróza
Hyperkalemická periodická paralýza
Hyperlipoproteinemia Type III
Hyperostosis Frontalis Interna
Hyperparatyreóza
Hyperprolinemia Type I
Hyperprolinemia Type II
Hypersenzitivní pneumonie/Zevní alergická alveolitida
Hyperthyroidism
Hypochondroplasia
Hypofosfatázie
Hypokalemia
Hypokalemická periodická paralýza
Hypomelanosis Of Ito
Hypoparathyroidism
Hypothalamic Hamartoma
Hypotrichosis with Juvenile Macular Degeneration
Hypotyreóza
I Cell Disease
Ichthyosis
Idic 15
Idiopathic Angioedema
Idiopathic Hypersomnia
Idiopathic Pulmonary Hemosiderosis
Idiopathic Subglottic Stenosis
Idiopatická trombocytopenická purpura
IgA nephropatie
Inclusion Body Myositis
Incontinentia Pigmenti
Infantile Myofibromatosis
Infantile Neuroaxonal Dystrophy
Intersticiální cystitida
Intolerance Histamin
Intrauterine Growth Restriction IUGR
Inzulinom
Isaac syndrom
Isotretinoin Syndrome
Ivemark Syndrome
Izovalerová acidemie
Jackson-Weiss Syndrome
Jacobsen Syndrome
Jansen's metaphyseal chondrodysplasia JMC
Jarcho-Levin Syndrome
Jaterní cirhóza
Javorový sirup nemoc moči
Jejunal Atresia
Jervell And Lange-Nielsen Syndrome
Jiné poruchy střevní absorpce uhlovodanů
Johanson-Blizzard syndrom
Joubert Syndrome
Juberg-Marsidi Syndrome
Jumping Frenchmen of Maine
Juvenile Hemochromatosis
Juvenile Hyaline Fibromatosis
Juvenile polyposis syndrome
Kabuki syndrom
Kallmann Syndrom
Kampylobakterióza
Kandidoza
Kapavka
Karcinom jícnu
Karcinom plic
Karcinom prostaty
Karcinom žaludku
Kardiomyopatie
Kasabach-Merritt syndrome
Katastrofický antifosfolipidový syndrom
Kawasaki Disease
KBG Syndrome
KCNK9 Imprinting Syndrome
KCNQ2 Encephalopathy
Kennedy Disease
Kenny-Caffey Syndrome
Keratoconus
Keratomalacia
Keratosis Seborrheica
Kernicterus
KID Syndrome
Kienbock Disease
Kikuchi-Fujimoto Disease
Kleine-Levin syndrom
Klinefelter Syndrom
Klippel-Feil Syndrom
Klippel-Trénaunay-Weber Syndrom
Kluver-Bucy Syndrome
Kniest Dysplasia
Köhler Disease
Koktavost
Koncentrická skleróza
Koolen De Vries Syndrome / 17q21.31 microdeletion syndrome
Kopřivka pigmentosa
koronavirus COVID 19 (SARS-CoV-2)
Kostmann Syndrome
Kraniosynostóza
Křivice
LADD syndrome
Lambert-Eaton myasthenic syndrom
Landau-Kleffner Syndrom
Langerhans Cell Histiocytosis
Larsen syndrom
Laryngeal Dystonia
Laryngomalacia
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Ledderhoses nemoc / Plantar Fibromatosis
Ledvinové kameny
Legg-Calvé-Perthes nemoc
Legionelóza
Leishmanióza
Lemierres syndrom
Lennox-Gastaut syndrom
Lenz Microphthalmia Syndrome
Lepra
Leprechaunism
Leptospiróza
Leri Pleonosteosis
Léri-weill Dyschondrosteosis
Lesch-Nyhan Syndrom
Leukodystrophie
Levy-Yeboa Syndrome
Li-Fraumeni syndrom
Lichen Planus
Lichen Sclerosus
Linear and whorled nevoid hypermelanosis
Linear Verrucous Nevus Syndrome
Lipedém
Lipomyelomeningocele
Lissencephaly
Listerióza
Lividní vaskulitida
Loeys Dietz syndrome
Long QT Syndrom
Lowe Syndrom
Lupus
Lyme nemoc
Lymfangioleiomyomatóza
Lymfogranuloma Venereum
Lymphangiomatosis
Lymphatic Malformations
Lymphocytic Infiltrate of Jessner
Lymphoedema
Lynch Syndrome
Machado-Joseph nemoc
Macroglossia
Macular degeneration
Madelung Deformity
Maffucci Syndrome
Mainzer-Saldino syndrome
Major aortopulmonary collateral arteries (MAPCAs)
Mal de debarquement
Mal de Meleda
Malárie
Mallory Weiss Syndrome
Mandibuloacral Dysplasia
Mantle Cell Lymphoma
Marcus Gunn Syndrome
Marden Walker Syndrome
Marfan syndrom
Marinesco-Sjögren Syndrome
Maroteaux-Lamy Syndrome
Marshall syndrom
Mastocytosis and MCAS
Maxillofacial Dysostosis
May Hegglin Anomaly
Mayer-Rokitansky-Kuster-Hauserův syndrom
McCune Albright
MDR3 Deficiency
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
Měkký Vřed
Melanom
MELAS syndrom
Melioidosis
Melkersson-Rosenthal Syndrom
Melnick Needles Syndrome
Melorheostosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Menetrier Disease
Meniere Syndrom
Meningitida
Meningococcal Disease
Menkes nemoc
Mercury Poisoning
Mesenchymal Chondrosarcoma
Mesothelioma
Metatropic Dysplasia
Methylmalonová acidemie
Microvillus Inclusion Disease
Migréna
Mikroftalmie
Mikulicz Syndrome
Miller Fisher Syndrome
Miller-Dieker syndrom
Minimální změna onemocnění
MIRAGE Syndrome
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Mitochondrialní Myopatie
Mitral Valve Prolapse Syndrome
Mixed Connective Tissue Disease (MCTD)
Mladistvá idiopatická artritida
Mnohočetná atrofie systémů
Mnohočetná chemická citlivost
Mnohočetná endokrinní neoplazie
Mnohočetná epifyzeální dysplazie
Mnohočetný myelom
Moebius Syndrom
Monilethrix
Monosomy 18p / De Grouchy syndrome
Monosomy 6p25
Monosomy 9p
Morquio Syndrom
Mosaic Trisomy 9
Mowat-Wilson syndrom
Moyamoya
Mozková obrna
Muckle-Wells Syndrome
Mulibrey Nanism
Multiminicore Myopathy
Multiple Sulfatase Deficiency
Mulvihill Smith Syndrome
Myasthenia Gravis
Mycosis Fungoides
Myelodysplastic Syndromes
Myelofibrosis
Myhre Syndrome
Myocarditis
Myosclerosis
Myotonická svalová dystrofie
N-Acetylglutamate Synthetase Deficiency
Nádor hypofýzy
Nádory ledvin
Nádory mozku
Nádory štítné žlázy
Nager Syndrome
Nail-patella syndrom
Nance-Horan Syndrome
Narcissistic Abuse Victims
Narkolepsie
Necrotizing Enterocolitis NEC
Nediagnostikovaná
Nedostatek lysosomální kyseliné lipázy
Nedostatek succinic semialdehyde dehydrogenase
Nefrogenní cukrovka insipidus
Nekrotizující fasciitis
Nelson Syndrome
Nemaline Myopathy
Nemoc kývání
Neonatal Hemochromatosis
Neonatal Herpes
Neperforovaná řit
Nephrogenic Systemic Fibrosis
Neslyšící lidé
Netherton syndrom
Neu Laxova Syndrome
Neuralgie trojklanného nervu
Neurodegeneration with Brain Iron Accumulation
Neurofibromatóza
Neuroleptic Malignant Syndrome
Neuropatie malého vlákna
Nevhodná sinus tachykardie
Niemann-Pick nemoc
Nitrolební hypertenze
Nocardiosis
Noma
Non-24-Hour Sleep-Wake Disorder
Non-Hodgkinův lymfom
Nonketotic Hyperglycinemia
Nontuberculous Mycobacterial Lung Disease
Nonverbal Learning Disorder
Noonan Syndrom
Norrie Disease
ntley-Bixler syndrom
Nutcracker syndrome
Obezita
Obří arteritida
Obsedantně kompulzivní porucha
Ocular Motor Apraxia
Oculo svalová dystrofie hltanu
Oculo-Dento-Digital Dysplasia
Ogilvie syndrome
Olivopontocerebellar Atrophy
Ollier nemoc
Omphalitis of Newborn
Omphalocele
Opsoclonus myoclonus syndrom
Optic Nerve Hypoplasia
Oral cancer
Oral-Facial-Digital Syndrome
Ornithine Transcarbamylase Deficiency
Osteitis Condensans ilii
Osteochondritis Dissecans
Osteogenesis Imperfecta
Osteomyelitida
Osteonecrosis
Osteopetrosis
Osteoporóza
Otrava oxidem uhelnatým
Ovotesticular Disorder of Sex Development
Pachydermoperiostosis
Pachygyria
Pachyonychia Congenita
Paget's Disease
Palindromický revmatismus
Pallister Hall Syndrome
Pallister-Killian Syndrome
Palmoplantar Keratoderma
Pancytopenia
Panhypopituitarism
Pankreatitida
Papillitis
Paramyotonia vrozená
Paraneoplastic Neurologic Syndromes
Paratyfus
Parkinson
Paroxysmal Cold Hemoglobinuria
Paroxysmal Kinesigenic Choreathetosis / Dyskinesia
Paroxysmal Nonkinesigenic Dyskinesia
Paroxysmální noční hemoglobinurie
Parry-Romberg syndrom / Progresivní hemifaciální atrofie
Pars Planitis
Parsonage-Turner Syndrom
Patauův Syndrom
Páteřní svalová atrofie
Pediatrický Transplantát
Peeling Skin Syndrome
Pemphigoid
Pemphigus
Pentalogy Of Cantrell
PEPCK Deficiency
Periferní neuropatie
Peutz-Jeghers syndrom
Peyronies nemoc
Pfeiffer Syndrome
Phenylketonurie
Phosphoglycerate Kinase Deficiency
Phyllodes nádor
Pickova nemoc
Pierre Robin Syndrom
Pigmentovaná villonodularní synovitida
Pilocytický Astrocytom
Pinta
Pitt-Hopkins Syndrome
Pityriasis lichenoides et varioliformis acuta
Pityriasis Rosea
Pityriasis Rubra Pilaris
Plantar Fascitis
Plasminogen Deficiency (PLGD)
Pleurisy
Plicní fibróza
Plicní hypertenze
PMM2-CDG
Pneumothorax
POEMS syndrom
Poland syndrom
Polyarteritis Nodosa
Polycystic Kidney Disease
Polycystic Liver Disease
Polycythemia Vera
Polymyalgia Rheumatica
Pontocerebellar Hypoplasia
Porencephaly
Porphyrie
Post Polio Syndrome
Postherpetická neuralgie
Posttraumatická stresová porucha
Potocki-Lupski syndrom
Povrchní siderosa
Prader-Willi syndrom
Pravé neštovice
Pre eklampsie
Precocious Puberty
Premenstruační dysforická porucha
Primární ciliární dyskinézie
Primární imunodeficience
Primární laterální skleróza
Primární ortostatická třes
Primary Biliary Cholangitis
Primary Familial Brain Calcification
Primary Hyperoxaluria
Primary Intestinal Lymphangiectasia
Primary Sclerosing Cholangitis
Prinzmetal Angina
Příušnice
Progeria
Progresivní multifokální leukoencefalopatie
Progresivní supranukleární paralýza
Progressive Osseous Heteroplasia
Proktitida
Prolactinoma
Propionic Acidemie
Prosopagnosia
Protein C Deficiency
Proteus syndrome
Proximal 16p11.2 Microdeletion Syndrome
Prune Belly Syndrome
Pseudocholinesterase Deficiency
Pseudohyperaldosteronism
Pseudohypoparathyroidism
Pseudomyxoma Peritonei
Pseudoxanthoma Elasticum (PXE)
Psitakóza
Psoriáza
Pulmonary Alveolar Proteinosis
Pulmonary atresia
Pure Red Cell Aplasia
Pyknodysostóza
Pyoderma Gangrenosum
Pyridoxine-Dependent Epilepsy
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Kinase Deficiency
Q-horečka
Querubismo
Rabson-Mendenhall Syndrome
Rakovina jater
Rakovina kůže
Rakovina prsu
Rakovina slinivky
Rakovina tlustého střeva
Rakovina vaječníků
Rakovina varlat
Ramsay Hunt Syndrom
Rasmussenova encefalitida
Raynaudova nemoc
Reactive Arthritis
Reaktivní Hypoglycemie
Reaktivní Porucha Příchylnosti
Recurrent Respiratory Papillomatosis
Refluxní choroba jícnu
Refractory Celiac Disease
Relapsing Polychondritis
Renal Glycosuria
Retinitis pigmentosa
Retinoblastom
Retinopathy Of Prematurity
Retroperitoneal Fibrosis
Rett Syndrom
Revmatická Horečka
Revmatoidní artritida
Reyův syndrom
Ring Chromosome 14 Syndrome
Ring Chromosome 4
Roberts Syndrome
Robinow syndrom
Rocky Mountain skvrnitý tyfus
ROHHAD
Rosai-Dorfman nemoc
Ross River Virus
Ross Syndrome
Rothmund-Thomson Syndrome
Rotor syndrom
Roztroušená skleróza
Rubinstein-Taybi Syndrom
Russell Silver Syndrome
Ruvalcaba Syndrome
Růžovka
Sacrococcygeal Teratoma
Saethre-Chotzen syndrom
Sakrální ageneze / syndrom kaudální regrese
Salmonelóza
Sandhoff nemoc
Sanfilippo Syndrom
SAPHO syndrome
Sarkoidóza
Scheuermanns nemoc
Schimke Immuno-Osseous Dysplasia
Schindler disease
Schinzel Giedion Syndrome
Schinzel Syndrome
Schizofrenie
Schnitzler syndrom
Schwartz-Jampel syndrom
Scleromyxedema
Scott Craniodigital Syndrome
Sdružení VACTERL/VATER
Seasonal Affective Disorder
Seckel Syndrome
Secondary Haemochromatosis
Segawa Syndrome
Selektivní mutismus
Sennetsu Fever
Sensory Processing Disorder
Sepiapterin Reductase Deficiency
septická artritida
Setleis Syndrome
Severe congenital neutropenia
Sheehan Syndrome
Short Bowel Syndrome
SHORT syndrome
Shprintzen-Goldberg Syndrome
Shwachman Diamond Syndrome
Sialadenitis
Sialidosis
Siamská dvojčata
Simian B Virus Infection
Simpson-Golabi-Behmel syndrom
Singleton Merten syndrome
Sinonasal Undifferentiated Carcinoma
Sirenomelia
Situs inversus
Sjogren
Sjögren-Larsson Syndrome
Skladování glykogenu nemoc
Sklerodermie
Sklerózující Mesenteritis
Skolióza
Sly Syndrome
Small for Gestational Age
Small Intestine Bacterial Overgrowth (SIBO)
Smith Magenis Syndrome
Smith-Lemli-Opitz Syndrom
Sneddon Syndrome
Snyder-Robinson Syndrome
Sociální Fobie
Sodoku
Sotos Syndrom
Spála
Spalničky
Spánkové apnoe
Specifické Poruchy Učení
Sphincter of Oddi dysfunction
Spina bifida
Spinal muscular atrophy with respiratory distress type 1
Spinal Stenosis
Spinocerebellar ataxia
Splenomegaly
Spondyloepiphyseal Dysplasia Tarda
Spontaneous Intracranial Hypotension
Sprengel Deformity
Srpkovitá anémie
Staphylococcal Scalded Skin Syndrome
Stargardt nemoc
Stevens Johnson Syndrom
Stickler syndrom
Stomie
Streptokoková Faryngitida
Studená kopřivka
Sturge Weber Syndrom
Stuve-Wiedemann Syndrome
STXBP1
Subacute Sclerosing Panencephalitis
Sudden Hearing Loss
Sudden Unexplained Death in Childhood
Sulfite Sensitivity
Superior Mesenteric Artery Syndrome
Susacs syndrom
Svalová dystrofie
Svalová dystrofie pásové končetiny
Sweet Syndrome
Swyer Syndrome / 46 XY Complete Gonadal Dysgenesis
Sydenhamův syndrom
Syndrom Alagill
Syndrom cyklického zvracení
Syndrom dráždivého tračníku
Syndrom Hypoplastického Levého Srdce
Syndrom hypoplastických chrupavek a vlasů
Syndrom komlexní regionální bolesti
Syndrom loketního tunelu
Syndrom myofascial bolestí
Syndrom náhlého úmrtí
Syndrom náhlého úmrtí kojenců
Syndrom neklidných nohou
Syndrom odkládané spánkové fáze
Syndrom polycystických vaječníků
Syndrom Toxického Šoku
Syndrom Uzamčení
Synestezie
Syringobulbia
Syringomyelia
Systemic Capillary Leak Syndrome
Systemic Primary Carnitine Deficiency
Takayasuova arteritida
Tangier Disease
Tardive Dyskinesia
Tarlovova cysta
Tarsal Tunnel syndrome
Tay-Sachsova choroba
Tetanus
Tethered Spinal Cord Syndrome
Tetrahydrobiopterin Deficiency
Těžká kombinovaná imunodeficience
Thalassemie
Thanatophoric Dysplasia
Thoracic Outlet Syndrome
Timothy Syndrome
Tinnitus
TNF Receptor Associated Periodic Syndrome
Tolosa Hunt Syndrome
Tooth and Nail Syndrome
Tourette Syndrom
Toxic Oil Syndrome
Toxoplazmóza
Tracheobronchomalacia
Tracheomalacia
Trachom
Transplantace
Transverse myelitis
Traumatické poranění mozku
Treacher Collins syndrom
Tricho Dento Osseous Syndrome
Trichorhinophalangeal Syndrome
Trichothiodystrofie
Trichotillomania
Trimethylaminuria
Triosephosphate Isomerase Deficiency
Triploidy
Trismus Pseudocamptodactyly Syndrome
Trisomy 17p
Trisomy 9p
Trofoblastická nemoc těhotenství
Tropical Sprue
Truncus Arteriosus
Tuberkulóza
Tuberózní skleróza
Tuhá osoba syndrom
Tularémie
Turcot Syndrome
Turner Syndrom
Twin-Twin Transfusion Syndrome
Tylní neuralgie
Typhus
Tyrosinemia Type I
Tyrosinemia type II
Ulcerózní kolitida
Ullrich Congenital Muscular Dystrophy
Undifferentiated Connective Tissue Disease
Unverricht-Lundborg Disease
Úplavice
Urofacial Syndrome
Urosepse
Usher syndrom
Uterine Leiomyosarcoma
Uveitis
Úzkost
Vaginismus
Valinemia
Van der Woude syndrome
Varicocele
Vasculitis
Vaskulární demence
Ventricular Septal Defects
Vernal Keratonconjunctivitis
Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
Vestibulární Schwannoma
Vestibulární schwannomu - akustický neurom
Victims of Thalidomid
Virus západonilské horečky
Visual Agnosia
Visual Snow
Vitiligo
Vocal Cord Dysfunction
Vocal Cord Hemorrhage
Vocal cord nodules
Vogt-Koyanagi-Harada Disease
Von Hippel-Lindau nemoc
Von Willebrand nemoc
Vpáčený hrudník
Vřed Buruli
Vrozený bilaterální perisylvian syndrom
Vrozený centralní hypoventilační syndrom
Vysoká krátkozrakost
Vzteklina
W syndrome
Waardenburgs syndrom
WAGR Syndrome - 11p Deletion Syndrome
Waldenstrom Macroglobulinemie
Walker-Warburg syndrom
Wallenberg Syndrome
Wandering Spleen
Warm Antibody Hemolytic Anemia
Wartenberg's migratory sensory neuropathy
Weaver Syndrome
Weill Marchesani syndrome
Weismann Netter Stuhl Syndrome
Wernicke-Korsakoff syndrom
West Syndrome
WHIM Syndrome
Whipple Procedure
Whippleova choroba
Wieacker Syndrome
Wiedemann-Steiner Syndrome
Wildervanck Syndrome
Williams Syndrom
Wilms tumor
Wilsons nemoc
Winchester Syndrome
Wiskott-Aldrich syndrom
WNT4 Deficiency
Wolf Hirschhorn Syndrome
Wolff-Parkinson-White syndrom
Wolfram Syndrom
Wyburn-Mason Syndrome
X Linked Juvenile Retinoschisis
X-linked Hypophosphatemia (XLH)
X-Linked Myopathy with Excessive Autophagy
Xeroderma Pigmentosum
XXX Syndrom
XXXXX syndrome
XYY Syndrom
Yellow Nail syndrome
Yunis Varon Syndrome
Zákopová Horečka
Zánět dásní
Zánět jater
Zánět žaludku
Zarděnky
Záškrt
Zelený zákal
Zellweger Spectrum Disorders
Zhoubná hypertermie
Zika Virus
Zimmermann Laband syndrome
Žlučové kameny
Žlutá zimnice
Zollinger Ellison Syndrome
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