Monogenic syndromes. Medical search. Frequent questions

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Anatomy4

Chromosomes, Human, Pair 22 Brain Chromosomes, Human, Pair 15 Face

Organisms3

Porcine respiratory and reproductive syndrome virus White spot syndrome virus 1 SARS Virus

Diseases194

Syndrome Down Syndrome Metabolic Syndrome X Nephrotic Syndrome Sjogren's Syndrome Turner Syndrome Abnormalities, Multiple Myelodysplastic Syndromes Cushing Syndrome Acute Coronary Syndrome Polycystic Ovary Syndrome Williams Syndrome DiGeorge Syndrome Horner Syndrome Prader-Willi Syndrome Long QT Syndrome Guillain-Barre Syndrome Hemolytic-Uremic Syndrome Compartment Syndromes Tourette Syndrome Antiphospholipid Syndrome Porcine Reproductive and Respiratory Syndrome Klinefelter Syndrome Carpal Tunnel Syndrome Werner Syndrome Reye Syndrome Bartter Syndrome HELLP Syndrome Bloom Syndrome Brugada Syndrome Ehlers-Danlos Syndrome Respiratory Distress Syndrome, Adult Angelman Syndrome Severe Acute Respiratory Syndrome Restless Legs Syndrome Job Syndrome Wiskott-Aldrich Syndrome Paraneoplastic Syndromes Sweet Syndrome Acquired Immunodeficiency Syndrome Intellectual Disability Churg-Strauss Syndrome Sturge-Weber Syndrome Budd-Chiari Syndrome Chediak-Higashi Syndrome Wolff-Parkinson-White Syndrome Facies Kallmann Syndrome Sick Sinus Syndrome Stevens-Johnson Syndrome Sezary Syndrome Felty Syndrome Usher Syndromes Beckwith-Wiedemann Syndrome Alagille Syndrome Bardet-Biedl Syndrome ACTH Syndrome, Ectopic Peutz-Jeghers Syndrome Hemorrhagic Fever with Renal Syndrome Oculocerebrorenal Syndrome Cockayne Syndrome Smith-Lemli-Opitz Syndrome Craniofacial Abnormalities Stiff-Person Syndrome Short Bowel Syndrome Behcet Syndrome Zollinger-Ellison Syndrome Serotonin Syndrome Hepatopulmonary Syndrome Orofaciodigital Syndromes Proteus Syndrome Duane Retraction Syndrome Immunologic Deficiency Syndromes Complex Regional Pain Syndromes Goldenhar Syndrome Respiratory Distress Syndrome, Newborn Neuroleptic Malignant Syndrome Costello Syndrome Klippel-Feil Syndrome Subclavian Steal Syndrome Hantavirus Pulmonary Syndrome Neoplastic Syndromes, Hereditary Thoracic Outlet Syndrome Hermanski-Pudlak Syndrome LEOPARD Syndrome Hand Deformities, Congenital Eye Abnormalities Li-Fraumeni Syndrome Hamartoma Syndrome, Multiple Mobius Syndrome Hepatorenal Syndrome Waardenburg Syndrome Systemic Inflammatory Response Syndrome Sleep Apnea Syndromes Adie Syndrome Polyradiculoneuropathy Ovarian Hyperstimulation Syndrome Premenstrual Syndrome Miller Fisher Syndrome Capillary Leak Syndrome Korsakoff Syndrome Neurocutaneous Syndromes Gitelman Syndrome Wolfram Syndrome Disease Models, Animal Acquired Hyperostosis Syndrome CREST Syndrome Wasting Syndrome Superior Vena Cava Syndrome Myasthenic Syndromes, Congenital Poland Syndrome Alstrom Syndrome Rubinstein-Taybi Syndrome Sudden Infant Death Hypoplastic Left Heart Syndrome Romano-Ward Syndrome Syndactyly Microcephaly Rothmund-Thomson Syndrome Dwarfism Acute Disease Burning Mouth Syndrome Insulin Resistance Chromosome Deletion Hypertelorism Lambert-Eaton Myasthenic Syndrome Zellweger Syndrome Tumor Lysis Syndrome Malignant Carcinoid Syndrome Ectodermal Dysplasia Obesity WAGR Syndrome Smith-Magenis Syndrome Acrocephalosyndactylia Sneddon Syndrome Coloboma Kearns-Sayre Syndrome Cri-du-Chat Syndrome Malabsorption Syndromes Cardio-Renal Syndrome Barth Syndrome Micrognathism Craniosynostoses Gardner Syndrome Cogan Syndrome Bernard-Soulier Syndrome Euthyroid Sick Syndromes Trisomy CHARGE Syndrome Nerve Compression Syndromes Branchio-Oto-Renal Syndrome Sotos Syndrome Pigmentation Disorders Staphylococcal Scalded Skin Syndrome Heart Defects, Congenital Chromosome Disorders Ellis-Van Creveld Syndrome Muscle Hypotonia Limb Deformities, Congenital Laurence-Moon Syndrome Progeria Genetic Predisposition to Disease Growth Disorders Schnitzler Syndrome Nail-Patella Syndrome Cryopyrin-Associated Periodic Syndromes Immune Reconstitution Inflammatory Syndrome Nephritis, Hereditary Foot Deformities, Congenital Heterotaxy Syndrome Gilbert Disease Dry Eye Syndromes Failed Back Surgery Syndrome Hearing Loss, Sensorineural Tarsal Tunnel Syndrome Wolf-Hirschhorn Syndrome Gerstmann Syndrome Meigs Syndrome Postphlebitic Syndrome Kleine-Levin Syndrome Postthrombotic Syndrome Shoulder Impingement Syndrome Susac Syndrome Obesity Hypoventilation Syndrome Scimitar Syndrome Nelson Syndrome Prune Belly Syndrome Patellofemoral Pain Syndrome Hyperandrogenism Nephrosis, Lipoid Brown-Sequard Syndrome Lemierre Syndrome Angina, Unstable Sex Chromosome Aberrations

Chemicals and Drugs6

Wiskott-Aldrich Syndrome Protein Biological Markers Methyl-CpG-Binding Protein 2 RecQ Helicases NAV1.5 Voltage-Gated Sodium Channel Autoantibodies

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Pedigree Facies Risk Factors Treatment Outcome DNA Mutational Analysis Fatal Outcome Retrospective Studies Case-Control Studies Follow-Up Studies Prospective Studies Prevalence Disease Models, Animal Magnetic Resonance Imaging Severity of Illness Index Electrocardiography Karyotyping Obesity Tomography, X-Ray Computed Prenatal Diagnosis Cohort Studies Genetic Testing Prognosis Polymerase Chain Reaction Incidence Chromosome Mapping Risk Assessment Cross-Sectional Studies Body Mass Index

Psychiatry and Psychology8

Tourette Syndrome Restless Legs Syndrome Intellectual Disability Asperger Syndrome Korsakoff Syndrome Munchausen Syndrome Gerstmann Syndrome Kleine-Levin Syndrome

Phenomena and Processes23

Mutation Phenotype Pregnancy Time Factors Mutation, Missense Chromosomes, Human, Pair 22 Consanguinity Insulin Resistance Chromosome Deletion Genes, Recessive Heterozygote Obesity Genotype Base Sequence Trisomy Mosaicism Genetic Predisposition to Disease Chromosomes, Human, Pair 15 Genetic Linkage Homozygote Amino Acid Sequence Body Mass Index Sex Chromosome Aberrations

Information Science6

Fatal Outcome Prevalence Molecular Sequence Data Base Sequence Incidence Amino Acid Sequence

Named Groups1

Infant, Newborn

Health Care16

Risk Factors Treatment Outcome Fatal Outcome Retrospective Studies Case-Control Studies Follow-Up Studies Prospective Studies Prevalence Severity of Illness Index Cohort Studies Genetic Testing Incidence Age Factors Risk Assessment Cross-Sectional Studies Body Mass Index

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Information Science Named Groups Health Care

Syndrome Down Syndrome Metabolic Syndrome X Nephrotic Syndrome Sjogren's Syndrome Turner Syndrome Abnormalities, Multiple Myelodysplastic Syndromes Cushing Syndrome Acute Coronary Syndrome Polycystic Ovary Syndrome Williams Syndrome DiGeorge Syndrome Horner Syndrome Prader-Willi Syndrome Long QT Syndrome Guillain-Barre Syndrome Hemolytic-Uremic Syndrome Compartment Syndromes Tourette Syndrome Antiphospholipid Syndrome Porcine Reproductive and Respiratory Syndrome Klinefelter Syndrome Carpal Tunnel Syndrome Werner Syndrome Reye Syndrome Bartter Syndrome Porcine respiratory and reproductive syndrome virus HELLP Syndrome Bloom Syndrome Brugada Syndrome Ehlers-Danlos Syndrome Respiratory Distress Syndrome, Adult Angelman Syndrome Pedigree Severe Acute Respiratory Syndrome Restless Legs Syndrome Job Syndrome Wiskott-Aldrich Syndrome Mutation Paraneoplastic Syndromes Sweet Syndrome Acquired Immunodeficiency Syndrome Intellectual Disability Churg-Strauss Syndrome Sturge-Weber Syndrome Budd-Chiari Syndrome Phenotype Chediak-Higashi Syndrome Wolff-Parkinson-White Syndrome Facies Kallmann Syndrome Sick Sinus Syndrome Stevens-Johnson Syndrome Sezary Syndrome Felty Syndrome Risk Factors Usher Syndromes Beckwith-Wiedemann Syndrome Alagille Syndrome Treatment Outcome Bardet-Biedl Syndrome ACTH Syndrome, Ectopic Peutz-Jeghers Syndrome Hemorrhagic Fever with Renal Syndrome Oculocerebrorenal Syndrome Cockayne Syndrome Smith-Lemli-Opitz Syndrome Craniofacial Abnormalities Wiskott-Aldrich Syndrome Protein Stiff-Person Syndrome Short Bowel Syndrome Behcet Syndrome Infant, Newborn Zollinger-Ellison Syndrome Serotonin Syndrome Hepatopulmonary Syndrome Orofaciodigital Syndromes Proteus Syndrome Duane Retraction Syndrome Immunologic Deficiency Syndromes Complex Regional Pain Syndromes Goldenhar Syndrome Respiratory Distress Syndrome, Newborn Neuroleptic Malignant Syndrome Costello Syndrome Klippel-Feil Syndrome Subclavian Steal Syndrome Hantavirus Pulmonary Syndrome DNA Mutational Analysis Neoplastic Syndromes, Hereditary Fatal Outcome Thoracic Outlet Syndrome Hermanski-Pudlak Syndrome Pregnancy Retrospective Studies White spot syndrome virus 1 LEOPARD Syndrome Case-Control Studies Hand Deformities, Congenital

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