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Sprint Sprintr Sprinter Sprint-based Fast Slow Twitch marathon running Homocysteine Homocysteinemia Homocysteinemiae Methylmalonic Methyl RBC 25-OH 25OH B6 Predict Prevent Prevail Proactive Actionable medication meds rx colon skin outmart genes existence layperson layman lay heart heartbeat pulse phenotype phenotypes genotype genotypes genetic dna Tips proven traits genes published research studis studies science scientists lifestyle life Nutrition Weight Diet uncommon prenatal preconception newborn newbie baby babies child children kid nursery nicu picu ACMG ASHG society societal screen screening panel panels evaluate evaluation exam 17 Alpha-hydroxylase alpha hydroxylase 17,20-Lyase 20-Lyase Lyase Deficiency Combined Complete 17 Beta-hydroxysteroid Dehydrogenase 3 Deficiency 25-hydroxyvitamin D Deficiency 2-methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency 3-methylcrotonyl-CoA CoA Carboxylase 1 Deficiency Biotin Responsive 3-methylcrotonyl-CoA Carboxylase 2 hydroxybutyryl methyl coA Colton null Ataxio Ataxia Ocular ataxiaocular Bardet Biedl Bernard Soulier Beare Stevenson encephalomyopathy Charcot Marie Tooth IIA2 IIA IIF IIB IIC IID IIE Chediak Higashi cone rod Crigler Najjar Bannayan Riley Ruvalcaba Denys Drash Danlos Ehlers 6A 7A Scone S Weber Cockayne EB EBS EBD Epidermolysis Bullosa Dystrophica Gangliosidosis Adult Chronic Haim Munk Hailey JK Lange Nielsen Lesch Nyhan Fraumeni LiFraumeni Thiamine response Emery Dreifuss Kinase associated Pelizaeus Merzbacher Delta aminolevulinate Rubinstein Taybi Roussy Levy Athabascan Simpson Golabi Existence EG Colby Brandon Doctor Physician neonatalogist Neonatal screening mutants mutant mutation mutations Deficiency 3-methylglutaconic Aciduria Type III Aarskog Scott Aarskog-Scott syndrome Achromatopsia Achromatopsia 3 Acquired Idiopathic Sideroblastic Anemia Acromesomelic Dysplasia Maroteaux Type Actin Myopathy Acute Hepatic Porphyria Severe Infantile-onset Acute Lymphoblastic Leukemia Acute Myeloid Leukemia with Complex Karyotype Adenine Phosphoribosyltransferase Deficiency Adenosine Deaminase Deficiency Partial Adenosine Monophosphate Deaminase Deficiency Adenylosuccinase Deficiency Adiponectin Deficiency Adrenal Hyperplasia Adrenal Hyperplasia II Deficiency of 3-Beta-hydroxysteroid Dehydrogenase Type II Adrenal Hypoplasia Congenital Adrenal Insufficiency Congenital Adrenoleukodystrophy Neonatal Agammaglobulinemia Agammaglobulinemia and Isolated Growth Hormone Deficiency Alagille Syndrome Albinism Ocular Type I Albinism Oculocutaneous Type I Temperature Sensitive Albinism Oculocutaneous Type IA Albinism Oculocutaneous Type III Alexander Disease Alkaptonuria Allan-Herndon-Dudley Syndrome Alopecia Areata Alopecia Universalis Congenita Alpers Syndrome Alpers-like Allan Alpers Hepatocerebral Syndrome Alpha-1-Antitrypsin Deficiency Alpha-B Crystallinopathy with Cataract Alport Syndrome Alström Syndrome Alzheimer’s Disease Early-onset Familial Amish Infantile Epilepsy Syndrome Amyloid Polyneuropathy Andrade or Portuguese Type Amyloidosis I Amyloidosis I Hereditary Neuropathic Amyloidosis III Amyloidosis Familial Finnish Type Amyloidosis Familial Visceral Amyloidosis Reactive Amyloid Systemic Amyloidotic Polyneuropathy Cardiac or Denmark Type Amyloidotic Polyneuropathy German-American Type Andermann Syndrome Andersen Cardiodysrhythmic Periodic Paralysis Anderson Disease Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome Infertility Male Androgen Insensitivity Complete Androgen Insensitivity Partial Angelman Syndrome Aniridia Antenatal Bartter Syndrome Type 2 Antiplasmin Alpha 2 Deficiency Antithrombin III Deficiency Aortic Aneurysm Familial Thoracic Aortic Aneurysm Familial Thoracic 4 Aortic Aneurysm Familial Thoracic 5 Apert Syndrome Apolipoprotein A2 Deficiency Apolipoprotein B Deficiency Apolipoprotein H Deficiency APRT Deficiency APRT Deficiency Japanese Type Aquaporin-1 Deficiency Colton-Null Argininemia Argininosuccinic Aciduria Arterial Aneurysms Familial Arthrogryposis Distal Type 2A Arthrogryposis Renal Dysfunction and Cholestasis Syndrome Arylsulfatase A Pseudodeficiency Ascending Spastic Paralysis Infantile-onset Leber Hereditary Optic Atrophy Ataxia Ataxia Episodic Myokymia Ataxia and Retinitis Pigmentosa with Isolated Vitamin E Deficiency Ataxia Isolated Vitamin E Deficiency Ataxia Spinocerebellar Ataxia Spinocerebellar 6 Ataxia Telangiectasia Ataxia Telangiectasia without Immunodeficiency Ataxia Telangiectasia-like Disease Ataxia-ocular Apraxia 2 Atelosteogenesis Type IB Atelosteogenesis Type II Atrial Septal Defect Atrial Septal Defect with Atrioventricular Conduction Defects Atrichia with Papular Lesions Atrioventricular Block Idiopathic Second-Degree Atrioventricular Septal Sefect ATRX Syndrome Auditory Neuropathy Nonsyndromic Auditory Neuropathy Temperature-sensitive Autoimmune and Autoinflammatory Diseases Autoimmune Lymphoproliferative Syndrome Type II Autoimmune Lymphoproliferative Syndrome Type IIA Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Azoospermia Obstructive Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 10 Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14 Bare Lymphocyte Syndrome Type I Bart Syndrome Barth syndrome Bartter Syndrome Bartter Syndrome Antenatal Type 1 Bartter Syndrome Type 3 Beare-Stevenson Cutis Gyrata Syndrome Benign Familial Hematuria Benign Hereditary Chorea Berardinelli-Seip lipodystrophy Bernard-Soulier Syndrome Type A Bernard-Soulier Syndrome Type C Beta Thalassemia Beta-hexosaminidase A Pseudodeficiency of Bethlem Myopathy Bilateral Striatal Necrosis Infantile Bile Acid Synthesis Defect Congenital 4 Biliary Atresia Extrahepatic Biotinidase Deficiency Biotinidase Deficiency Partial Blau Syndrome Blepharophimosis Ptosis and Epicanthus Inversus Type I Blindness Color Blindness Deutan Night Blindness Congenital Stationary Type 1 Night Blindness Congenital Stationary Type 1B Night Blindness Congenital Stationary Type 2 Night Blindness Congenital Stationary Type 2 Severe Night Blindness Congenital Stationary Type 2B Blood Group Variant Auberger AuaAub Au Blood Group Variant Bombay Phenotype Blood Group Variant Colton Blood Group Variant Diego Blood Group Variant Dombrock Blood Group Variant Dombrock-null Blood Group Variant Froese Blood Group Variant Kidd Blood Group Variant Lewis Antigen absence of Blood Group Variant p Phenotype Blood Group Variant Pk Antigen Blood Group Variant Ralph Blood Group Variant Swann Blood Group Variant Waldner Blood Group Variant Wright Bloom Syndrome Borjeson-Forssman-Lehmann Syndrome Bothnia Retinal Dystrophy Retinitis Punctata Albescens Brachydactyly Type A1 Brachydactyly Type A2 Brachydactyly Type B1 Brachydactyly Type C Brachydactyly Type E Brachydactyly Type D Butyrylcholinesterase Deficiency Butyrylcholinesterase Deficiency Fluoride-resistant Japanese Type C Opitz Trigonocephaly Syndrome Cabezas Syndrome Caffey Disease Camurati-Engelmann Disease Canavan Disease Capillary Malformation Arteriovenous Malformation-Arteriovenous Malformation Carbohydrate-deficient Glycoprotein Syndrome Type II Carbonic Anhydrase Deficiency Cardiac Conduction Disease Cardioencephalomyopathy Fatal Infantile due to Cytochrome c Oxidase Deficiency Cardiofaciocutaneous Syndrome Cardiomyopathy X-linked Infantile Carney Complex Carney Complex Variant Carnitine Deficiency Systemic Primary Carnitine Palmitoyltransferase Deficiency Hepatic Type IA Carnitine Palmitoyltransferase II Deficiency Carnitine Palmitoyltransferase II Deficiency Infantile Carnitine Palmitoyltransferase II Deficiency Late-onset Carnitine Palmitoyltransferase II Deficiency Lethal Neonatal Carnitine-acylcarnitine Translocase Deficiency Cartilage-Hair Hypoplasia Caspase-8 Deficiency Cataract Central Nuclear Cataract Congenital Cataract Coppock-like Cataract Marner Type Cataract Ocular Anterior Dysgenesis and Coloboma Cataract Primary Congenital Cataract Congenital Lamellar Caudal Regression Syndrome CD36 Deficiency Central Core Disease Central Hypoventilation Syndrome Centronuclear Myopathy Centronuclear Myopathy Becker Muscular Dystrophy Cerebellar Ataxia Cataracts and Diabetes Mellitus Cerebellar Ataxia Cayman Type Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Cerebral Cavernous Malformations Cerebroarterial Amyloidosis Icelandic-type Cerebrooculofacioskeletal Syndrome 4 Cerebrotendinous Xanthomatosis Cerulean Cataract Congenital Cervical Artery Dissections Spontaneous Chanarin-Dorfman Syndrome Charcot-Marie-Tooth Disease Type 1A Charcot-Marie-Tooth Disease Type 1B Charcot-Marie-Tooth Disease Type 1D Charcot-Marie-Tooth Disease Axonal Type 2A1 Charcot-Marie-Tooth Disease Axonal Type 2A2 Charcot-Marie-Tooth Disease Axonal Type 2B1 Charcot-Marie-Tooth Disease Axonal Type 2D Charcot-Marie-Tooth Disease Axonal Type 2E Charcot-Marie-Tooth Disease Axonal Type 2K Charcot-Marie-Tooth Disease Type 2F Charcot-Marie-Tooth Disease Type 2J Charcot-Marie-Tooth Disease Type 4C Charcot-Marie-Tooth Disease Type 4F Charcot-Marie-Tooth Disease Type 4H Charcot-Marie-Tooth Disease Type 4J Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 6 CHARGE Syndrome Chediak-Higashi Syndrome Childhood Type Cherubism Cholesterol Ester Storage Disease Cholinesterasaemia Chondrocalcinosis 2 Chondrodysplasia Punctata Choreoacanthocytosis Choroideremia Chronic Granulomatous Disease Cytochrome b-Negative Chronic Granulomatous Disease Cytochrome b-Positive Chronic Chronic Granulomatous Disease Cytochrome b-Positive Type II Chronic Insomnia Chronic Obstructive Pulmonary Disease Severe Early-onset Chylomicron Retention Disease Ciliary Dyskinesia Primary Cleft LipPalate-Ectodermal Dysplasia Syndrome Cleft Palate and Ankyloglossia Cleidocranial Dysplasia Coagulation Defect Vitamin K-Dependent Cohen Syndrome Combined Deficiency of Vitamin K-dependent Clotting Factors Type 2 Combined Oxidative Phosphorylation Deficiency Combined SAP Deficiency Complement C2 Deficiency Type II Complement C3 Deficiency Complement C5 Deficiency Complete Adenine Phosphoribosyltransferase Deficiency Icelandic Type Complex 1 Deficiency Complex 3 Deficiency Cone-rod Dystrophy Cone-rod Dystrophy 3 Cone-rod Dystrophy 3 Cone-rod Dystrophy 6 Cone-rod Dystrophy 9 Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia due to Steroid-11 Beta-hydroxylase Deficiency Congenital Adrenal Hyperplasia Non-classic Congenital Afibrinogenemia Congenital Hypofibrinogenemia Congenital Cataract Congenital Central Hypoventilation Syndrome Congenital Disorder of Glycosylation Type Ia Congenital Disorder of Glycosylation Type Ib Congenital Disorder of Glycosylation Type Ic Congenital Disorder of Glycosylation Type Id Congenital Disorder of Glycosylation Type Ig Congenital Disorder of Glycosylation Type Ik Congenital Disorder of Glycosylation Type IIc Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyria Mild Cutaneous-only Congenital Fast Channel Myasthenic Syndrome Congenital Heart Defects Congenital Heart Disease Heterotaxy Congenital Insensitivity to Pain Syndrome Congenital Lipoid Adrenal Hyperplasia Congenital Merosin Deficient Muscular Dystrophy Congenital Muscular Dystrophy Type 1C with Neurologic Abnormalities Congenital Myasthenic Syndrome Congenital Myasthenic Syndrome associated with Acetylcholine Receptor Deficiency Congenital Nephrosis 1 Finnish Type Congenital Sick Sinus Syndrome Congenital Slow Channel Myasthenic Syndrome Conjunctivitis Ligneous Connatal Pelizaeus-Merzbacher Disease Contractural Arachnodactyly Congenital Coproporphyria Corticosteroid-binding Globulin Deficiency Costello Syndrome Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome MacrocephalyAutism Syndrome Craniofrontonasal Syndrome Craniometaphyseal Dysplasia Craniosynostosis Muenke Syndrome Creutzfeldt-Jakob Syndrome Crigler-Najjar Syndrome 1 Crigler-Najjar Syndrome 2 Crouzon syndrome Crouzon Syndrome with Acanthosis Nigricans Crouzonodermoskeletal Syndrome Cutis Laxa Cystathioninuria Cystic Fibrosis Cystic Fibrosis Non-classic Cystinuria Cystinuria Non-type I Cytochrome c Oxidase Deficiency Cytochrome P450 Deficiency Danon Disease Darier Disease Deafness Childhood-onset Deafness Aminoglycoside-induced Deafness Congenital Heart Defects and Posterior Embryotoxon Deafness Congenital Neurosensory Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia Deafness Neurosensory Deafness Neurosensory 21 Deafness Neurosensory without Vestibular Involvement Deafness Nonsyndromic Deafness Nonsyndromic Sensorineural Deafness Autosomal Recessive 1 Deafness Nonsyndromic Sensorineural 3 Deafness Nonsyndromic Sensorineural 8 Deafness Nonsyndromic Sensorineural 12 Deafness Autosomal Dominant 12 Deafness Nonsyndromic Sensorineural with Dentinogenesis Imperfecta Type I Deafness Progressive Deafness Sensorineural with Migraine Deafness Sensorineural with Mild Renal Dysfunction Decreased Androgen DHEA Secretion Deficiency of 3-Beta-hydroxysteroid Dehydrogenase Type II Deficiency of Factor XIII A Subunit Dejerine-Sottas Neuropathy Delayed Sleep Phase Syndrome Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis Axonal Charcot-Marie-Tooth Disease Type 2K Dent Disease Dentinogenesis Imperfecta Severe with Very Mild Osteogenesis Imperfecta Dentinogenesis Imperfecta Type I Dentinogenesis Imperfecta Shields Type II Dentinogenesis Imperfecta Shields Type III Denys-Drash Syndrome Denys-Drash Syndrome Mesangial Sclerosis Isolated Diffuse Desmosterolosis Diabetes Insipidus Central Diabetes Insipidus Nephrogenic Diabetes Mellitus Insulin-Resistant with Acanthosis Nigricans Diabetes Mellitus Permanent Neonatal Diarrhea Malabsorptive Congenital Diastrophic Dysplasia Dihydropteridine Reductase Deficiency Dihydropyrimidine Dehydrogenase Deficiency Dihydropyrimidine Dehydrogenase Deficiency Possible 5-FU Toxicity Dihydropyrimidine Dehydrogenase Deficiency Partial Dilatative Myopathy Disordered Steroidogenesis Distal Arthrogryposis Syndrome 1 Distal Arthrogryposis Syndrome 2b Distal Renal Tubular Acidosis Distal Renal Tubular Acidosis with Late-onset Sensorineural Hearing Loss Distal Renal Tubular Acidosis with Progressive Deafness Dopamine Beta Hydroxylase Deficiency Drug-induced Hemolysis Haemoglobin Variant Dubin-Johnson Syndrome Dysalbuminemic Hyperthyroxinaemia Familial Dysautonomia Familial Dysfibrinogenaemia Fibrinogen Amiens 1 Fibrinogen Amiens 2 Fibrinogen Bergamo 3 Fibrinogen Bern 2 Fibrinogen Bicetre 1 Fibrinogen Birmingham 1 Fibrinogen Chapel Hill 2 Fibrinogen Clermont-Ferrand 1 Fibrinogen Giessen 1 Fibrinogen Leitchfield Fibrinogen Long Beach 1 Fibrinogen Louisville 1 Fibrinogen Manchester 1 Fibrinogen Paris 6 Fibrinogen Petoskey 1 Fibrinogen Seattle 2 Fibrinogen Sheffield 2 Fibrinogen Sydney 1 Fibrinogen Sydney 2 Fibrinogen White Marsh 1 Dysfibrinogenemia Dysfibrinogenemia Fibrinogen Bergamo 1 Dysfibrinogenemia Thrombophilia Dysfibrinogenemic Fibrinogen Hershey 2 Fibrinogen Homburg 2 Fibrinogen Homburg 3 Fibrinogen Kawaguchi 1 Fibrinogen Leogan Fibrinogen Metz 1 Fibrinogen New Albany Fibrinogen Osaka 1 Fibrinogen Schwarzach 1 Fibrinogen Stony Brook 1 Fibrinogen Zurich 1 Fibrinogen Torino 1 Fibrinogen Ledyard Fibrinogen Hershey 3 Fibrinogen Milano XII Digenic Dyskeratosis Congenita Dystonia 12 Dystonia Adult-onset Dystonia Dopa-responsive Dystonia Torsion Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Cardiac Valvular Form Ehlers-Danlos Syndrome Hypermobility Type Ehlers-Danlos Syndrome Progeroid Form Ehlers-Danlos Syndrome Spondylocheiro Dysplastic Form Ehlers-Danlos Syndrome Type I Ehlers-Danlos Syndrome Type II Ehlers-Danlos Syndrome Type IV Ehlers-Danlos Syndrome Type VI-A Ehlers-Danlos Syndrome Type VI-A Nevo Syndrome Ehlers-Danlos Syndrome Type VII Ehlers-Danlos Syndrome Type VII-A Ehlers-Danlos Syndrome Ehlers Danlos VIIA VIIB 7A 7B Type VII-B Elliptocytosis Elliptocytosis Hemolytic Anemia Neonatal Nonimmune Fatal and Near-fatal Elliptocytosis Rhesus-Unlinked Type Elliptocytosis Rhesus-Unlinked Type Pyropoikilocytosis Hereditary Encephalopathy Ethylmalonic Encephalopathy Familial with Neuroserpin Inclusion Bodies Enhanced S-cone Syndrome Enhanced S-cone Syndrome Retinitis Pigmentosa Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Dystrophica Localisata Variant Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex Ogna Type Epidermolysis Bullosa with Pyloric Atresia Epidermolysis Bullosa without Pyloric Atresia Generalized Atrophic Benign Epidermolysis Bullosa Dowling Meara Dowling-Meara Epidermolysis Bullosa Generalized Atrophic Benign Epidermolysis Bullosa Herlitz Epidermolysis Bullosa Junctional Epidermolysis Bullosa Junctional Herlitz Type Epidermolysis Bullosa Junctional with Pyloric Atresia Epidermolysis Bullosa Koebner Epidermolysis Bullosa Lethal Acantholytic Epidermolysis Bullosa Pretibial Epidermolysis Bullosa Weber-Cockayne Epidermolytic Hyperkeratosis Epidermolytic Palmoplantar Keratoderma associated with Knuckle Pads Epilepsy Benign Neonatal Epilepsy Childhood Absence Epilepsy Nocturnal Frontal Lobe Epilepsy Progressive Myoclonus Epilepsy Juvenile Absence Epilepsy Juvenile Myoclonic Epilepsy Severe Myoclonic of Infancy Dravet Syndrome Epilepsy Myoclonic of Lafora Epilepsy Myoclonic with Mental Retardation and Spasticity Epiphyseal Dysplasia Epoxide Hydrolase Deficiency Susceptibility to Lymphoproliferative Disorder Epstein Syndrome Erythermalgia Primary Erythrocyte Lactate Transporter Defect Escobar Syndrome Essential Fructosuria Ethylmalonic Aciduria Excessive Daytime Sleepiness Exostoses Multiple Type II Extrapyramidal Movement Disorder Fabry Disease Faciogenital Dysplasia with Attention Deficit Hyperactivity Disorder Factor H Deficiency Factor V and Factor VIII Deficiency Combined Factor V Deficiency Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor XII Deficiency Familial Advanced Sleep Phase Syndrome Familial Cold Autoinflammatory Syndrome Familial Dysautonomia Familial Mediterranean Fever Fanconi Anemia Complementation Group A Fanconi Anemia Complementation Group C Fanconi Anemia Complementation Group D1 Fanconi Anemia Complementation Group E Fanconi Anemia Complementation Group J Fanconi Anemia Complementation Group N Farber Lipogranulomatosis Fechtner Syndrome Fibromatosis Juvenile Hyaline Fish-eye Disease Focal Segmental Glomerulosclerosis Foveomacular Dystrophy Adult-onset with Choroidal Neovascularization Fragile X Mental Retardation Syndrome Frasier Syndrome Friedreich Ataxia Friedreich-Like Ataxia with Isolated Vitamin E Deficiency Frontotemporal Dementia Frontotemporal Dementia with Parkinsonism Frontotemporal Lobar Dementia Ubiquitin-Positive Fuchs Endothelial Corneal Dystrophy Polymorphous Posterior Fucosidosis Fucosyltransferase-6 Deficiency Fumarylacetoacetase Pseudodeficiency Galactosemia Galactosialidosis Adult Japanese Type Galactosialidosis Late Infantile Gangliosidosis GM1 Gangliosidosis GM1 Late InfantileJuvenile Type Gaucher Disease Type I Gaucher Disease Type II Gaucher Disease Type II Perinatal Lethal Form Gaucher Disease Type III Gaucher Disease Type IIIC Gelatinous Drop-like Corneal Dystrophy Generalized Epilepsy and Paroxysmal Dyskinesia Generalized Idiopathic Epilepsy Episodic Ataxia Type 5 Gerstmann-Straeussler Syndrome Giant Axonal Neuropathy Gilbert Syndrome Gitelman Syndrome Glanzmann Thrombasthenia Glaucoma Primary Congenital Glaucoma 1 Open Angle E Glaucoma 1 Open Angle E Glaucoma Normal Tension Glaucoma 1A Open Angle Glaucoma 1A Primary Open Angle Glaucoma 1A Primary Open Angle Digenic Glaucoma 3A Primary Congenital Digenic Glucocorticoid Deficiency Glucose Glucose-6-phosphate phosphate Dehydrogenase Deficiency Glutamate Formiminotransferase Deficiency Glycine methyltransferase N-methyltransferase Deficiency Glycogen Storage Disease Type 0 Glycogen Storage Disease Type Ia Glycogen Storage Disease Type Ib Glycogen Storage Disease Type II Glycogen Storage Disease Type II Adult Form Glycogen Storage Disease Type II Infantile Form Glycogen Storage Disease Type IIIa Glycogen Storage Disease Type IV Classic Hepatic Glycogen Storage Disease Type IV Childhood Neuromuscular Glycogen Storage Disease Type IV Nonprogressive Hepatic Glycogen Storage Disease Type VI Glycogen Storage Disease Type VII GM1-Gangliosidosis AdultChronic Type GM2GM2-Gangliosidosis Gangliosidosis Adult Goiter Familial with Hypothyroidism Goiter Nonendemic Simple Gout HPRT related HPRT-related GRACILE Syndrome Greater Agonists Promoted Contractility Greig Cephalopolysyndactyly Syndrome Griscelli Syndrome Type 2 Growth Hormone Deficiency Growth Hormone Deficiency Isolated Growth Hormone Deficiency Isolated Type 2 Growth Retardation due to IGF1R Gyrate Atrophy Gyrate Atrophy with Pyridoxine-responsive Ornithinemia Haemoglobin H Disease Haemorrhagic Telangiectasia 1 Hailey-Hailey Disease Haim-Munk Syndrome Harderoporphyria Harlequin Ichthyosis HARP Syndrome Hartnup Disorder Hawkinsinsuria Hearing Impairment Nonsyndromic Sensorineural Hemochromatosis Hemochromatosis Type 2A Hemochromatosis Type 3 Hemochromatosis Type 4 Hemolytic Anemia Hemolytic Anemia due to Adenylate Kinase Deficiency Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes Hemolytic Anemia due to Triosephosphate Isomerase Deficiency Hemolytic Anemia Rh-Null Regulator Type Hemolytic Uremic Syndrome Hemophagocytic Lymphohistiocytosis Familial Hemophilia A Hemophilia B Hemophilia B Leyden Hemophilia B Brandenburg Hemorrhagic Diathesis due to Antithrombin Pittsburgh Heparin Cofactor II Deficiency Hepatic Lipase Deficiency Hereditary Angioedema Type II Hereditary Haemorrhagic Telangiectasia Type 2 Hereditary Hypophosphatemic Rickets with Hypercalciuria Hereditary Myopathy with Early Respiratory Failure Hereditary Nonpolyposis Colorectal Cancer Type 1 Hereditary Nonpolyposis Colorectal Cancer Type 2 Hereditary Nonpolyposis Colorectal Cancer Type 5 Hereditary Nonpolyposis Colorectal Cancer Type 7 Hereditary Nonployposis Colorectal Cancer Type 9 Hereditary Nonployposis Colorectal Cancer Type 10 Hereditary Persistence of Fetal Hemoglobin Hermansky-Pudlak Syndrome Heterotaxy Hidrotic Ectodermal Dysplasia High Myopia Hirschsprung Disease Hirschsprung Disease Congenital Hypoventilation Syndrome Hirschsprung Disease Waardenburg-Shah Syndrome HLA Class I Deficiency HMG-CoA Lyase Deficiency HMG-CoA Synthase Deficiency Holocarboxylase Synthetase Deficiency Holoprosencephaly 2 Holoprosencephaly 3 Holoprosencephaly 5 Holoprosencephaly 7 Holoprosencephaly 9 Homocystinuria Hurler Syndrome Hutchinson-Gilford Progeria Syndrome Restrictive Dermatopathy Lethal Hydatidiform Mole Recurrent Hydrocephalus X-linked Hyperbilirubinemia Transient Familial Neonatal Hypercholanemia Familial Hypercholesterolemia Familial Hyperekplexia Hyperglycerolemia Hyperglycinemia Non-ketotic Glycine Encephalopathy Hypergonadotrophic Hypogonadism Female Hyperhomocysteinemia due to MTHFR Deficiency Folate Responsive Hyper-IgD Syndrome Hyper-IgE Syndrome Hyperinsulinism-hyperammonemia Syndrome Hyperkalaemic Periodic Paralysis Paramyotonia Congenita Hyperlipidemia Familial Combined Hyperornithinemia-hyperammonemia-homocitrullinemia Syndrome Hyperostosis-Hyperphosphatemia Syndrome Hyperphenylalaninemia Hyperphenylalaninemia Non-PKU Hyperproinsulinaemia Familial Hyperprolinemia Type 1 Schizophrenia Hypertriglyceridemia Hereditary Hypocalciuric Hypercalcaemia Familial Hypoparathyrodism Familial Isolated Hypocholesterolaemia Hypocholinesterasaemia Hypochondroplasia Hypogammaglobulinemia Hypoglycaemia Persistent Hyperinsulinaemic Hypoglycemia Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism Fertile Eunuch Syndrome Hypokalaemic Periodic Paralysis Hypomagnesaemia with Secondary Hypocalcaemia Hypomagnesaemia Primary Hypomagnesaemia Renal Hypoparathyroidism Familial Isolated Hypoparathyroidism Familial Isolated Hypocalemia with Bartter Syndrome Hypoparathyroidism-retardation-dysmorphism Syndrome Hypophosphatasia Infantile Hypophosphatasia Infantile Mild Hypophosphatemia Hypophosphatemic Rickets Hypoplastic Left Heart Syndrome Atrioventricular Septal Defect Hypothyroidism Thyroid Hormonogenesis Genetic Defect in Hypothyroidism Congenital Nongoitrous Hypotrichosis Hypotrichosis Simplex Hypotrichosis Simplex of Scalp Hypoxanthine Guanine Phosphoribosyltransferase Deficiency Hystrix-Like Ichthyosis with Deafness Keratitis-ichthyosis-deafness Syndrome Ichthyosis Vulgaris Ichthyosis with Hypotrichosis Ichthyosis Harlequin Ichthyosis Lamellar Idiopathic Infantile Nystagmus Idiopathic Pulmonary Fibrosis Idiopathic Restrictive Cardiomyopathy Immunodeficiency with Hyper-IgM Type 2 Immunodeficiency with Hyper Hyper-IgM IgM Type 3 Immunodeficiency with Hyper-IgM Type 5 Immunologically Anomalous Variant Inclusion Body Myopathy Infantile Nephronophthisis Intrahepatic Cholestasis of Pregnancy Intrahepatic Cholestasis Familial Progressive 2 Intrauterine and Postnatal Growth Retardation Short Stature Iodide Transport Defect Thyroid Hormonogenesis Genetic Defect in IPEX syndrome Iris Flocculi Isolated Lissencephaly Sequence Isolated Partial Atrioventricular Septal Defect Isovaleric Acidemia ITPase Deficiency Jervell and Lange-Nielsen Syndrome JK-Null Variant Finnish Type Joubert Syndrome Joubert Syndrome 2 Joubert Syndrome 3 Joubert Syndrome Leber Congenital Amaurosis Type X Juvenile PolyposisHereditary Hemorrhagic Telangiectasia Syndrome Kallmann Syndrome Kallmann Syndrome 2 Kartagener Syndrome Hemolytic Disease of the Newborn due to Anti-K Keratitis-ichthyosis-deafness Syndrome Keratoderma palmoplantar Keratoderma Palmoplantar with Deafness Nonsyndromic Sensorineural Knuckle pads Leukonychia Sensorineural Deafness Kowarski Syndrome Larsen Syndrome Late Infantile Metachromatic Leukodystrophy Lateral Temporal Lobe Epilepsy Lead Poisoning Increased Susceptibility to Leber Congenital Amaurosis Type I Leber Congenital Amaurosis Type III Leber Congenital Amaurosis Type VI Leber Congenital Amaurosis Type VII Leber Congenital Amaurosis Type X Leber Hereditary Optic Neuropathy Leber Hereditary Optic Neuropathy Severe Leber Optic Atrophy Leigh Syndrome Leigh Syndrome due to Mitochondrial Complex I Deficiency Leigh Syndrome French-Canadian Type Leiomyomatosis and Renal Cell Cancer Leprechaunism Lesch-Nyhan Syndrome Lethal Arthrogryposis with Anterior Horn Cell Disease Lethal Congenital Contracture Syndrome Lethal Contractural Syndrome Type 3 Leukocyte Adhesion Deficiency Leukoencephalopathy with Vanishing White Matter Leukoencephalopathy with Vanishing White Matter Ovarioleukodystrophy Leydig Cell Hypoplasia with Male Pseudohermaphroditism Liddle Syndrome Li-Fraumeni Syndrome Lipodystrophy with Diabetes Lipodystrophy Familial Partial Type II Dunnigan Lipoprotein Lipase Deficiency Lissencephaly Subcortical Laminar Heterotopia Liver Glycogenosis Type I Liver Glycogenosis Type II Lujan-Fryns Syndrome Lymphangioleiomyomatosis Lymphoedema Hereditary Lymphoedema-distichiasis Syndrome MacrocephalyAutism Syndrome Macular Degeneration Juvenile Macular Dystrophy Macular Dystrophy Best Macular Dystrophy Vitelliform Majeed Syndrome Mal de Meleda Malignant Hyperthermia Malonyl-CoA Decarboxylase Deficiency Mannose-binding Protein Deficiency Maple Syrup Urine Disease Type IA Maple Syrup Urine Disease Type IB Maple Syrup Urine Disease Type II Thiamine-response Maple Syrup Urine Disease Type III Marfan Syndrome Marfan Syndrome Atypical Marfan Syndrome Neonatal Marfan Syndrome Severe Classic Marfan Syndrome Type II Marfanoid Skeletal Syndrome MASA syndrome Mast Cell Leukemia Mastocytosis Sporadic Childhood-onset Maturity-onset Diabetes of the Young Type III Maximum Parasitemia Mild Malaria Attack May-Hegglin Anomaly McArdle Disease McCune-Albright Syndrome McKusick Kaufman McKusick-Kaufman Syndrome Meckel Syndrome Meckel Syndrome Type 3 Mediterranean Macrothrombocytopenia Medium Chain Acyl CoA Dehydrogenase Deficiency Meesmann Corneal Dystrophy Megablastic Anemia Norwegian Megalencephalic Leukoencephalopathy with Subcortical Cysts Megaloblastic Anemia Finnish Type Megaloblastic Anemia Thiamine-Responsive MELAS Syndrome Melnick-Needles syndrome Membranoproliferative Glomerulonephritis Type II and Dense Deposit Disease Meningioma Li-Fraumeni Syndrome Menkes Disease Mild MERRF Syndrome MERRFMELAS Overlap Syndrome Metachromatic Leukodystrophy Atypical Metachromatic Leukodystrophy Adult Metachromatic Leukodystrophy Juvenile Metaphyseal Dysplasia without Hypotrichosis Methionine Synthase Reductase Deficiency Methylmalonic Aciduria cblB type Methylmalonic Aciduria and Homocystinuria cblC Type Methylmalonic Aciduria mut0 Type Mevalonic Aciduria Microhaematuria and Protinuria Microphallus Microphthalmia with Associated Anomalies Microphthalmia Posterior with Retinitis Pigmentosa Foveoschisis and Optic Disc Drusen Migraine Familial Hemiplegic Migraine Familial Hemiplegic with Progressive Cerebellar Ataxia Migraine Sporadic Hemiplegic with Progressive Cerebellar Ataxia Mitochondrial Complex 1 Deficiency Mitochondrial Cytochrome c Oxidase Deficiency Mitochondrial DNA Depletion Syndrome Hepatocerebral Form Mitochondrial Myopathy and Sideroblastic Anemia Mitochondrial Neurogastrointestinal Encephalopathy Mitochondrial Neurogastrointestinal Encephalopathy without Leukoencephalopathy Miyoshi Myopathy ML LEOPARD Syndrome Monilethrix Mucolipidosis Type II Mucolipidosis Type II AlphaBeta Mucolipidosis Type III Mucolipidosis Type III AlphaBeta Mucolipidosis Type III Gamma Mucolipidosis Type IIIC Mucolipidosis Type IV Mucopolysaccharidosis Type II Severe Form Mucopolysaccharidosis Type IVA Mucopolysaccharidosis Type IVA Mild Mucopolysaccharidosis Type VI Multi-minicore Disease Multiple Acyl-CoA Dehydrogenase Deficiency Multiple Carboxylase Deficiency Biotin-responsive Multiple Cutaneous and Uterine Leiomyomata Multiple Diastrophic Dysplasia Multiple Endocrine Neoplasia Type I Multiple Endocrine Neoplasia Type I Burin Variant Prolactinoma Hyperparathyroid Carcinoid Syndrome Multiple Endocrine Neoplasia Type IIA Pheochromocytoma Multiple Endocrine Neoplasia Type IV Multiple Epiphyseal Dysplasia Muscle Weakness Atrial Fibrilation Hypertriglyceridaemia Muscle-eye-brain Disease Muscle-eye-brain Like Disease Muscular Dystrophy Becker Muscular Dystrophy Duchenne Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy Limb Girdle Type 1A Myotilinopathy Muscular Dystrophy Limb Girdle Type 1B Muscular Dystrophy Limb Girdle Type 1C Muscular Dystrophy Limb Girdle Type 2B Muscular Dystrophy Limb Girdle Type 2D Muscular Dystrophy Limb Girdle Type 2E Muscular Dystrophy Limb Girdle Type 2I Muscular Dystrophy Limb Girdle Type 2K Muscular Dystrophy Merosin Deficient Myasthenic Syndrome Myeloperoxidase Deficiency Myoclonus-Dystonia Syndrome Myofibrillar Myopathy ZASP related Myopathy Myopathy due to Muscle Phosphoglycerate Mutase Deficiency Myopathy Desmin related Myopathy Distal with Rimmed Vacuoles Myopathy Early onset Earlyonset Early-onset and Progeria Myopathy Mitochondrial Late-onset Myopathy Mitochondrial with Diabetes Mellitus Myopathy Variable Inducable with Anesthesia Myotilinopathy Myotonia Fluctuans Myotonic Dystrophy Type 1 Nail-Patella Syndrome Naxos Disease Nemaline Myopathy Neonatal Adrenoleukodystrophy Neonatal Alloimmune Thrombocytopenic Purpura Posttransfusion Purpura Neonatal Death Leigh Syndrome Nephrolithiasis Hypercalciuric Nephronophthisis Nephronophthisis 1 Nephronophthisis Familial Juvenile Nephrotic Syndrome Steroid Resistant Netherton Syndrome Neural Tube Defects Neuroblastoma Neurofibromatosis Type I Neurofibromatosis 1–like Phenotype Neurofibromatosis Type II Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Late Infantile Neuropathy Axonal with Vocal Cord Paresis Neuropathy Axonal Distal Hereditary Motor Type IIB 2B Neuropathy Distal Hereditary Motor Type V Neuropathy Hereditary Sensory Type I Neuropathy Hereditary Sensory Type II Neuropathy Hereditary Sensory and Autonomic Type V Loss of Pain & Temperature Perception Neuropathy with Liability to Pressure Palsies Neutropenia Congenital Neutropenia Cyclic Neutropenia Nonimmune Chronic Idiopathic of Adults Neutropenia Severe Congenital Nevus Epidermal Epidermolytic Hyerkeratotic Type Niemann-Pick Disease Type A Niemann-Pick Disease Type B Niemann-Pick Disease Type C1 Niemann-Pick Disease Type C2 Niemann-Pick Disease Variant Type C1 Nijmegen Breakage Syndrome Nocturnal Frontal Lobe Epilepsy Type 4 with Nocturnal Wandering and Ictal Fear Noncompaction Left Ventricular associated with Congenital Heart Defects Noncompaction Left Ventricular Isolated Noncompaction Left Ventricular Myocardium Familial Isolated Non-heterotaxy heterotaxy nonheterotaxy Cardiac Malformation Nonsyndromic Hearing Impairment Noonan Syndrome Noonan Syndrome 3 Noonan Syndrome LEOPARD Syndrome Normal Tension Glaucoma Norrie Disease Nucleoside Phosphorylase Deficiency Obesity Hyperphagia and Developmental Delay Obesity Severe Obesity Morbid with Hypogonadism Occlusive Cerebrovascular Disease Oculofaciocardiodental Syndrome Odontoonychodermal Dysplasia Omenn Syndrome Ophthalmoplegia Progressive External with Hypogonadism Opitz-Kaveggia Opitz Kaveggia Syndrome Optic Atrophy 1 Optic Atrophy 1 with Deafness Optic Atrophy Deafness Opthalmoplegia and Myopathy Optic Atrophy and Cataract Ornithine Transcarbamylase Deficiency Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type III Osteogenesis Imperfecta Type IV Osteogenesis Imperfecta Ehlers Ehlers-Danlos Danlos Crossover Syndrome Osteopetrosis Osteopetrosis Type 2 Osteoporosis-pseudoglioma Syndrome Otopalatodigital Syndrome 2 Pachyonychia Congenita Type 1 Pachyonychia Congenita Type 2 Palmoplantar Keratoderma Epidermolytic Pancreatitis Chronic Pantothenate Kinase-associated Neurodegeneration Atypical Pantothenate Kinase-associated Neurodegeneration PAPA syndrome Papillon-Lefevre Syndrome Paragangliomas Phaeochromocytoma Paramyotonia congenital Parkinson Disease Parkinson Disease Early-onset Parkinsonism Juvenile Autosomal Recessive Paroxysmal Extreme Pain Disorder Partial Atrioventricular Septal Defect and Heterotaxy Syndrome Peeling Skin Syndrome Pelizaeus-Merzbacher Disease Mild Pendred Syndrome Periodic Fever Autosomal Dominant Periodontitis Juvenile Periventricular Heterotopia with Microcephaly Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Complementation Group 3 Peroxisome Biogenesis Disorder Complementation Group 8 Peroxisome Biogenesis Disorder Complementation Group 9 Persistence of Fetal Hemoglobin Peters' Anomaly Peutz-Jeghers Syndrome Pfeiffer Syndrome Jackson-Weiss Syndrome Pfeiffer Syndrome Type III Phenylketonuria Pheochromocytoma Phosphoserine Phosphatase Deficiency Piebaldism with Sensorineural Deafness Pigmentary Retinopathy and Sensorineural Deafness Pigmented Nodular Adrenocortical Disease Primary Pigmented Paravenous Chorioretinal Atrophy Pitt-Hopkins Syndrome Placental Aromatase deficiency Platelet Glycoprotein IV Deficiency Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Polycythemia Vera Polycythemia Chuvash Type Polymicrogyria Bilateral Frontoparietal POR Deficiency Porphyria Cutanea Tarda Porphyria Acute Hepatic Delta-aminolevulinate Dehydratase Porphyria Porphyria Acute Intermittent Porphyria Acute Intermittent Nonerythroid Variant Porphyria Hepatoerythropoietic Porphyria Variegate Postanesthetic Apnea Posterior Polymorphons Corneal Dystrophy 1 Prealbumin Chicago Euthyroid Dystransthyretinemic Hyperthyroxinemia Precocious Puberty Male-Limited Premature Ovarian Failure Primary Congenital Glaucoma Primary Spontaneous Pneumothorax Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Type 2 Progressive Familial Intrahepatic Cholestasis Benign Recurrent Intrahepatic Cholestasis Progressive Supranuclear Palsy Progressive Supranuclear Palsy Parkinson Disease Prolonged Bleeding Time due to Plasminogen Activator Inhibitor 1 Deficiency Properdin Deficiency Type I Properdin Deficiency Type II Propionic Acidemia Protoporphyria Erythropoietic Pseudoachondroplasia Pseudohermaphroditism Leydig Cell Hypoplasia Pseudohermaphroditism Male Pseudohypoaldosteronism Type 1 Pseudohypoparathyroidism 1a with Testotoxicosis Pseudorheumatoid Dysplasia Progressive Pseudovaginal Perineoscrotal Hypospadias Pseudoxanthoma Elasticum Pulmonary Arterial Hypertension Primary Dexfenfluramine-associated Pulmonary Hypertension Primary Pulmonary Surfactant Metabolism Dysfunction Type 2 Respiratory Insufficiency Infantile-onset Progressive Pulmonary Toxicity when Exposed to Thioureas Pycnodysostosis Pyridoxine Responsive Homocystinuria Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase E1-alpha Deficiency Pyruvate Dehydrogenase E1 beta E1-beta Deficiency Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Amish Type RAPADILINO Syndrome Refsum Disease Refsum Disease Infantile Form Reifenstein Syndrome Renal Glucosuria Renal Tubular Dysgenesis Restrictive Cardiomyopathy Retinal Degeneration in Ciliopathies Retinal Degeneration with Early Macular Involvement Retinitis Pigmentosa Retinitis Pigmentosa 1 Retinitis Pigmentosa 2 Retinitis Pigmentosa 4 Retinitis Pigmentosa 19 Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy Retinitis Pigmentosa without Hearing Loss Retinitis Pigmentosa Digenic Retinitis Pigmentosa Late-onset Retinitis Punctata Albescens Retinitis Punctata Albescens Newfoundland Rod-cone Dystrophy Retinoblastoma Retinoblastoma Incomplete Penetrance Type Rheumatoid Arthritis Juvenile Systemic Onset Rhizomelic Chondrodysplasia Punctata Type 2 Rhizomelic Chondrodysplasia Punctata Type 3 Rickets Vitamin D-dependent Type I Rickets Vitamin D-dependent Type II Rickets Vitamin D-resistant Type I Ring Dermoid of the Cornea Rippling Muscle Disease 2 Robinow Syndrome Rod Monochromacy Romano-Ward Syndrome Rothmund-Thomson Syndrome Roussy-Levy Syndrome Rubinstein-Taybi Syndrome Saddan Dysplasia Salt-Wasting Congenital Adrenal Hyperplasia Sandhoff Disease Infantile Type Scheie Syndrome Schnyder Crystalline Corneal Dystrophy Schwannomatosis Scott Syndrome Seckel Syndrome Segawa Syndrome Senile Amyloidosis Inclusion Body Myositis Senior-Loken Syndrome Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis Severe Combined Immunodeficiency SCID Athabascan-Type Severe Combined Immunodeficiency SCID B Cell-negative Severe Combined Immunodeficiency SCID B-Cell-negative T Cell-negative NK Cell-negative Severe Combined Immunodeficiency B Cell-positive T Cell-negative NK Cell-positive Severe Metachromatic Leukodystrophy Shah-Waardenburg Syndrome Short Chain Acyl-CoA-dehydrogenase Deficiency Shwachman-Diamond Syndrome Sialidosis Type II Sialuria Sickle Cell Disease Sickle Cell Anemia Sickle Cell Trait Sideroblastic Anemia and Spinocerebellar Ataxia Sideroblastic Anemia Hereditary Simple Virilizing Congenital Adrenal Hyperplasia Simpson Golabi Behmel Simpson-Golabi-Behmel Syndrome Sinus Bradycardia Syndrome Familial Sinus Node Disease Sitosterolemia Sjogren Larsson Sjogren-Larsson Syndrome Skeleton-Skin-Brain Syndrome Skin Fragility-Woolly Hair Syndrome Small Patella Syndrome Smith-Lemli-Opitz Syndrome Spastic Paralysis Infantile-onset Spastic Paraplegia Spastic Paraplegia 3 Spastic Paraplegia 10 Spastic Paraplegia Autosomal Dominant Spherocytosis Hereditary Spherocytosis Hereditary due to Protein 4.2-Notame Spherocytosis Hereditary Japanese Type Spinal Muscular Atrophy Distal Childhood-onset Spinal Muscular Atrophy Type I Spondyloepiphyseal Dysplasia Tarda Spondyloepiphyseal Dysplasia Tarda Arthropathy Spondyloepiphyseal Dysplasia Omani Type Spongiform Encephalopathy with Neuropsychiatric Features Stargardt Disease Stargardt Disease Cone-rod Dystrophy 3 Stargardt Disease Mild Steroid reductase Steroid-5 Alpha-reductase Deficiency Stiff Skin Syndrome Subcortical Laminar HeterotopiaPachygyria Superoxide Dismutase Elevated Extracellular Supravalvular Aortic Stenosis Symphalangism Symphalangism Proximal Symphalangism Type 1 Synpolydactyly 1 Tangier Disease Tarsal-Carpal Coalition Syndrome Tay-Sachs Disease Tay-Sachs Disease AB Variant Tay-Sachs Disease B1 Variant Thalassemia Beta Thalassemia Beta-Plus Thalassemia Delta Thanatophoric Dysplasia Type I Thanatophoric Dysplasia Type II Thin Basement Membrane Disease Thoracic Aortic Aneurysm and Dissection Thrombocythemia Essential Thrombocytopenia Thrombocytopenia 1 Thrombocytopenia with associated Acute Myeloid Leukemia Thrombocytosis Thrombophilia due to Heparin Cofactor II Deficiency Thrombophilia due to Plasminogen Deficiency Thrombotic Thrombocytopenic Purpura Congenital Thyroid Hormone Resistance Generalized Thyroxine-binding Globulin Deficiency Partial Thyroxine-binding Globulin Deficiency Slow Tibial Muscular Dystrophy Tardive Timothy Syndome Tolbutamide Poor Metabolizer Total Iodide Organification Defect Tourette Syndrome Tourette Syndrome Facial Tic TPMT Deficiency Transcobalamin II Deficiency Transient Bullous Dermolysis of the Newborn Transposition of the Great Arteries Dextro-looped Treacher-Collins Syndrome Trichorhinophalangeal Syndrome Type I Trichothiodystrophy Xeroderma Pigmentosum Group D Trichotillomania Trigonocephaly Antley-Bixler Syndrome Trimethylaminuria Troyer Syndrome Tuberculoid Leprosy versus Lepromatous Leprosy Tuberous Sclerosis Tumoral Calcinosis Hyperphasphatemic Tyrosinemia Type I Tyrosinemia Type II Tyrosinemia Type III Unna Unna-Thost Thost Disease Urea Transport Defect JK-Null Variant Usher Syndrome Type 1B Usher Syndrome Type 1C Usher Syndrome Type 1D Usher Syndrome Type 1F Usher Syndrome Type 1G Usher Syndrome Type 2A Usher Syndrome Type 2C Usher Syndrome Type 3 UV-sensitive Syndrome Vohwinkel Syndrome Von Hippel-Lindau syndrome Von Willebrand Disease Type I Von Willebrand Disease Type IIB Von Willebrand Disease Type IIM Von Willebrand Disease Type III Waardenburg Syndrome Type IIA Waardenburg Syndrome Type III Waardenburg Syndrome Type IVA 4A 2B IIC III II IV V VI VII VIII IX Walker Warburg Walker-Warburg Syndrome Werner Syndrome Werner Syndrome Atypical WHIM Syndrome Wilson Disease Wiskott Aldrich Wiskott-Aldrich Syndrome WiskottAldrich Attenuated Wolff Parkinson White Wolff-Parkinson-White Syndrome Hereditary Wolman Disease Xanthinuria Type I Xeroderma Pigmentosum Complementation Group C Xeroderma Pigmentosum Complementation Group D Xeroderma Pigmentosum Complementation Group E Xeroderma Pigmentosum Complementation Group G XRCC3 Deficiency XY Sex Reversal with Adrenal Insufficiency XY Sex Reversal without Adrenal Insufficiency Zellweger Syndrome Zellweger Syndrome Complementation Group G 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers Genos Veritas Verily HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes NGS WGS WES Universal Compatible

19 rare carrier carriers homozygous hetero heterozygous orphanos NORD national international population mutation mutations SNP SNPs polymorphism polymorphisms variant variants SNV SNVc DIP DIPs InDel InDels Insertion Insertions Deletion Deletions Repeats CNV Copy Number CNVs Dinucleotide Trinucleotide Mononucleotide Repeat Repeating Translocation Chromosomal Translocations Chromosome Chromosomes Genome Genomes Global debilitating EURORDIS neglected prevalence incidence ORDR NIH NHS Undiagnosed Fabric Mystery Mysterious Symptoms Symptom disease diseases trait traits condition conditions syndrome syndromes unheardof unheard new newly denovo de-novo novo dominant recessive x-linked y-linked xlinked ylinked x-chromosome xchr chrx x-chr y-chromosome ychr chry y-chr mitochondrial mito mitrochondria mitocondrial mitocondria mt-chr chrmt mt infant infants crying pain congenital phenotype phenotypes analysis counsyl genedx genes orphen orphan uncommon prenatal preconception newborn newbie baby babies child children kid nursery nicu picu ACMG ASHG society societal screen screening panel panels evaluate evaluation exam 17 Alpha-hydroxylase alpha hydroxylase 17,20-Lyase 20-Lyase Lyase Deficiency Combined Complete 17 Beta-hydroxysteroid Dehydrogenase 3 Deficiency 25-hydroxyvitamin D Deficiency 2-methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency 3-methylcrotonyl-CoA CoA Carboxylase 1 Deficiency Biotin Responsive 3-methylcrotonyl-CoA Carboxylase 2 hydroxybutyryl methyl coA Colton null Ataxio Ataxia Ocular ataxiaocular Bardet Biedl Bernard Soulier Beare Stevenson encephalomyopathy Charcot Marie Tooth IIA2 IIA IIF IIB IIC IID IIE Chediak Higashi cone rod Crigler Najjar Bannayan Riley Ruvalcaba Denys Drash Danlos Ehlers 6A 7A Scone S Weber Cockayne EB EBS EBD Epidermolysis Bullosa Dystrophica Gangliosidosis Adult Chronic Haim Munk Hailey JK Lange Nielsen Lesch Nyhan Fraumeni LiFraumeni Thiamine response Emery Dreifuss Kinase associated Pelizaeus Merzbacher Delta aminolevulinate Rubinstein Taybi Roussy Levy Athabascan Simpson Golabi Existence EG Colby Brandon Doctor Physician neonatalogist Neonatal screening mutants mutant mutation mutations Deficiency 3-methylglutaconic Aciduria Type III Aarskog Scott Aarskog-Scott syndrome Achromatopsia Achromatopsia 3 Acquired Idiopathic Sideroblastic Anemia Acromesomelic Dysplasia Maroteaux Type Actin Myopathy Acute Hepatic Porphyria Severe Infantile-onset Acute Lymphoblastic Leukemia Acute Myeloid Leukemia with Complex Karyotype Adenine Phosphoribosyltransferase Deficiency Adenosine Deaminase Deficiency Partial Adenosine Monophosphate Deaminase Deficiency Adenylosuccinase Deficiency Adiponectin Deficiency Adrenal Hyperplasia Adrenal Hyperplasia II Deficiency of 3-Beta-hydroxysteroid Dehydrogenase Type II Adrenal Hypoplasia Congenital Adrenal Insufficiency Congenital Adrenoleukodystrophy Neonatal Agammaglobulinemia Agammaglobulinemia and Isolated Growth Hormone Deficiency Alagille Syndrome Albinism Ocular Type I Albinism Oculocutaneous Type I Temperature Sensitive Albinism Oculocutaneous Type IA Albinism Oculocutaneous Type III Alexander Disease Alkaptonuria Allan-Herndon-Dudley Syndrome Alopecia Areata Alopecia Universalis Congenita Alpers Syndrome Alpers-like Allan Alpers Hepatocerebral Syndrome Alpha-1-Antitrypsin Deficiency Alpha-B Crystallinopathy with Cataract Alport Syndrome Alström Syndrome Alzheimer’s Disease Early-onset Familial Amish Infantile Epilepsy Syndrome Amyloid Polyneuropathy Andrade or Portuguese Type Amyloidosis I Amyloidosis I Hereditary Neuropathic Amyloidosis III Amyloidosis Familial Finnish Type Amyloidosis Familial Visceral Amyloidosis Reactive Amyloid Systemic Amyloidotic Polyneuropathy Cardiac or Denmark Type Amyloidotic Polyneuropathy German-American Type Andermann Syndrome Andersen Cardiodysrhythmic Periodic Paralysis Anderson Disease Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome Infertility Male Androgen Insensitivity Complete Androgen Insensitivity Partial Angelman Syndrome Aniridia Antenatal Bartter Syndrome Type 2 Antiplasmin Alpha 2 Deficiency Antithrombin III Deficiency Aortic Aneurysm Familial Thoracic Aortic Aneurysm Familial Thoracic 4 Aortic Aneurysm Familial Thoracic 5 Apert Syndrome Apolipoprotein A2 Deficiency Apolipoprotein B Deficiency Apolipoprotein H Deficiency APRT Deficiency APRT Deficiency Japanese Type Aquaporin-1 Deficiency Colton-Null Argininemia Argininosuccinic Aciduria Arterial Aneurysms Familial Arthrogryposis Distal Type 2A Arthrogryposis Renal Dysfunction and Cholestasis Syndrome Arylsulfatase A Pseudodeficiency Ascending Spastic Paralysis Infantile-onset Leber Hereditary Optic Atrophy Ataxia Ataxia Episodic Myokymia Ataxia and Retinitis Pigmentosa with Isolated Vitamin E Deficiency Ataxia Isolated Vitamin E Deficiency Ataxia Spinocerebellar Ataxia Spinocerebellar 6 Ataxia Telangiectasia Ataxia Telangiectasia without Immunodeficiency Ataxia Telangiectasia-like Disease Ataxia-ocular Apraxia 2 Atelosteogenesis Type IB Atelosteogenesis Type II Atrial Septal Defect Atrial Septal Defect with Atrioventricular Conduction Defects Atrichia with Papular Lesions Atrioventricular Block Idiopathic Second-Degree Atrioventricular Septal Sefect ATRX Syndrome Auditory Neuropathy Nonsyndromic Auditory Neuropathy Temperature-sensitive Autoimmune and Autoinflammatory Diseases Autoimmune Lymphoproliferative Syndrome Type II Autoimmune Lymphoproliferative Syndrome Type IIA Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Azoospermia Obstructive Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 10 Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14 Bare Lymphocyte Syndrome Type I Bart Syndrome Barth syndrome Bartter Syndrome Bartter Syndrome Antenatal Type 1 Bartter Syndrome Type 3 Beare-Stevenson Cutis Gyrata Syndrome Benign Familial Hematuria Benign Hereditary Chorea Berardinelli-Seip lipodystrophy Bernard-Soulier Syndrome Type A Bernard-Soulier Syndrome Type C Beta Thalassemia Beta-hexosaminidase A Pseudodeficiency of Bethlem Myopathy Bilateral Striatal Necrosis Infantile Bile Acid Synthesis Defect Congenital 4 Biliary Atresia Extrahepatic Biotinidase Deficiency Biotinidase Deficiency Partial Blau Syndrome Blepharophimosis Ptosis and Epicanthus Inversus Type I Blindness Color Blindness Deutan Night Blindness Congenital Stationary Type 1 Night Blindness Congenital Stationary Type 1B Night Blindness Congenital Stationary Type 2 Night Blindness Congenital Stationary Type 2 Severe Night Blindness Congenital Stationary Type 2B Blood Group Variant Auberger AuaAub Au Blood Group Variant Bombay Phenotype Blood Group Variant Colton Blood Group Variant Diego Blood Group Variant Dombrock Blood Group Variant Dombrock-null Blood Group Variant Froese Blood Group Variant Kidd Blood Group Variant Lewis Antigen absence of Blood Group Variant p Phenotype Blood Group Variant Pk Antigen Blood Group Variant Ralph Blood Group Variant Swann Blood Group Variant Waldner Blood Group Variant Wright Bloom Syndrome Borjeson-Forssman-Lehmann Syndrome Bothnia Retinal Dystrophy Retinitis Punctata Albescens Brachydactyly Type A1 Brachydactyly Type A2 Brachydactyly Type B1 Brachydactyly Type C Brachydactyly Type E Brachydactyly Type D Butyrylcholinesterase Deficiency Butyrylcholinesterase Deficiency Fluoride-resistant Japanese Type C Opitz Trigonocephaly Syndrome Cabezas Syndrome Caffey Disease Camurati-Engelmann Disease Canavan Disease Capillary Malformation Arteriovenous Malformation-Arteriovenous Malformation Carbohydrate-deficient Glycoprotein Syndrome Type II Carbonic Anhydrase Deficiency Cardiac Conduction Disease Cardioencephalomyopathy Fatal Infantile due to Cytochrome c Oxidase Deficiency Cardiofaciocutaneous Syndrome Cardiomyopathy X-linked Infantile Carney Complex Carney Complex Variant Carnitine Deficiency Systemic Primary Carnitine Palmitoyltransferase Deficiency Hepatic Type IA Carnitine Palmitoyltransferase II Deficiency Carnitine Palmitoyltransferase II Deficiency Infantile Carnitine Palmitoyltransferase II Deficiency Late-onset Carnitine Palmitoyltransferase II Deficiency Lethal Neonatal Carnitine-acylcarnitine Translocase Deficiency Cartilage-Hair Hypoplasia Caspase-8 Deficiency Cataract Central Nuclear Cataract Congenital Cataract Coppock-like Cataract Marner Type Cataract Ocular Anterior Dysgenesis and Coloboma Cataract Primary Congenital Cataract Congenital Lamellar Caudal Regression Syndrome CD36 Deficiency Central Core Disease Central Hypoventilation Syndrome Centronuclear Myopathy Centronuclear Myopathy Becker Muscular Dystrophy Cerebellar Ataxia Cataracts and Diabetes Mellitus Cerebellar Ataxia Cayman Type Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Cerebral Cavernous Malformations Cerebroarterial Amyloidosis Icelandic-type Cerebrooculofacioskeletal Syndrome 4 Cerebrotendinous Xanthomatosis Cerulean Cataract Congenital Cervical Artery Dissections Spontaneous Chanarin-Dorfman Syndrome Charcot-Marie-Tooth Disease Type 1A Charcot-Marie-Tooth Disease Type 1B Charcot-Marie-Tooth Disease Type 1D Charcot-Marie-Tooth Disease Axonal Type 2A1 Charcot-Marie-Tooth Disease Axonal Type 2A2 Charcot-Marie-Tooth Disease Axonal Type 2B1 Charcot-Marie-Tooth Disease Axonal Type 2D Charcot-Marie-Tooth Disease Axonal Type 2E Charcot-Marie-Tooth Disease Axonal Type 2K Charcot-Marie-Tooth Disease Type 2F Charcot-Marie-Tooth Disease Type 2J Charcot-Marie-Tooth Disease Type 4C Charcot-Marie-Tooth Disease Type 4F Charcot-Marie-Tooth Disease Type 4H Charcot-Marie-Tooth Disease Type 4J Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 6 CHARGE Syndrome Chediak-Higashi Syndrome Childhood Type Cherubism Cholesterol Ester Storage Disease Cholinesterasaemia Chondrocalcinosis 2 Chondrodysplasia Punctata Choreoacanthocytosis Choroideremia Chronic Granulomatous Disease Cytochrome b-Negative Chronic Granulomatous Disease Cytochrome b-Positive Chronic Chronic Granulomatous Disease Cytochrome b-Positive Type II Chronic Insomnia Chronic Obstructive Pulmonary Disease Severe Early-onset Chylomicron Retention Disease Ciliary Dyskinesia Primary Cleft LipPalate-Ectodermal Dysplasia Syndrome Cleft Palate and Ankyloglossia Cleidocranial Dysplasia Coagulation Defect Vitamin K-Dependent Cohen Syndrome Combined Deficiency of Vitamin K-dependent Clotting Factors Type 2 Combined Oxidative Phosphorylation Deficiency Combined SAP Deficiency Complement C2 Deficiency Type II Complement C3 Deficiency Complement C5 Deficiency Complete Adenine Phosphoribosyltransferase Deficiency Icelandic Type Complex 1 Deficiency Complex 3 Deficiency Cone-rod Dystrophy Cone-rod Dystrophy 3 Cone-rod Dystrophy 3 Cone-rod Dystrophy 6 Cone-rod Dystrophy 9 Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia due to Steroid-11 Beta-hydroxylase Deficiency Congenital Adrenal Hyperplasia Non-classic Congenital Afibrinogenemia Congenital Hypofibrinogenemia Congenital Cataract Congenital Central Hypoventilation Syndrome Congenital Disorder of Glycosylation Type Ia Congenital Disorder of Glycosylation Type Ib Congenital Disorder of Glycosylation Type Ic Congenital Disorder of Glycosylation Type Id Congenital Disorder of Glycosylation Type Ig Congenital Disorder of Glycosylation Type Ik Congenital Disorder of Glycosylation Type IIc Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyria Mild Cutaneous-only Congenital Fast Channel Myasthenic Syndrome Congenital Heart Defects Congenital Heart Disease Heterotaxy Congenital Insensitivity to Pain Syndrome Congenital Lipoid Adrenal Hyperplasia Congenital Merosin Deficient Muscular Dystrophy Congenital Muscular Dystrophy Type 1C with Neurologic Abnormalities Congenital Myasthenic Syndrome Congenital Myasthenic Syndrome associated with Acetylcholine Receptor Deficiency Congenital Nephrosis 1 Finnish Type Congenital Sick Sinus Syndrome Congenital Slow Channel Myasthenic Syndrome Conjunctivitis Ligneous Connatal Pelizaeus-Merzbacher Disease Contractural Arachnodactyly Congenital Coproporphyria Corticosteroid-binding Globulin Deficiency Costello Syndrome Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome MacrocephalyAutism Syndrome Craniofrontonasal Syndrome Craniometaphyseal Dysplasia Craniosynostosis Muenke Syndrome Creutzfeldt-Jakob Syndrome Crigler-Najjar Syndrome 1 Crigler-Najjar Syndrome 2 Crouzon syndrome Crouzon Syndrome with Acanthosis Nigricans Crouzonodermoskeletal Syndrome Cutis Laxa Cystathioninuria Cystic Fibrosis Cystic Fibrosis Non-classic Cystinuria Cystinuria Non-type I Cytochrome c Oxidase Deficiency Cytochrome P450 Deficiency Danon Disease Darier Disease Deafness Childhood-onset Deafness Aminoglycoside-induced Deafness Congenital Heart Defects and Posterior Embryotoxon Deafness Congenital Neurosensory Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia Deafness Neurosensory Deafness Neurosensory 21 Deafness Neurosensory without Vestibular Involvement Deafness Nonsyndromic Deafness Nonsyndromic Sensorineural Deafness Autosomal Recessive 1 Deafness Nonsyndromic Sensorineural 3 Deafness Nonsyndromic Sensorineural 8 Deafness Nonsyndromic Sensorineural 12 Deafness Autosomal Dominant 12 Deafness Nonsyndromic Sensorineural with Dentinogenesis Imperfecta Type I Deafness Progressive Deafness Sensorineural with Migraine Deafness Sensorineural with Mild Renal Dysfunction Decreased Androgen DHEA Secretion Deficiency of 3-Beta-hydroxysteroid Dehydrogenase Type II Deficiency of Factor XIII A Subunit Dejerine-Sottas Neuropathy Delayed Sleep Phase Syndrome Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis Axonal Charcot-Marie-Tooth Disease Type 2K Dent Disease Dentinogenesis Imperfecta Severe with Very Mild Osteogenesis Imperfecta Dentinogenesis Imperfecta Type I Dentinogenesis Imperfecta Shields Type II Dentinogenesis Imperfecta Shields Type III Denys-Drash Syndrome Denys-Drash Syndrome Mesangial Sclerosis Isolated Diffuse Desmosterolosis Diabetes Insipidus Central Diabetes Insipidus Nephrogenic Diabetes Mellitus Insulin-Resistant with Acanthosis Nigricans Diabetes Mellitus Permanent Neonatal Diarrhea Malabsorptive Congenital Diastrophic Dysplasia Dihydropteridine Reductase Deficiency Dihydropyrimidine Dehydrogenase Deficiency Dihydropyrimidine Dehydrogenase Deficiency Possible 5-FU Toxicity Dihydropyrimidine Dehydrogenase Deficiency Partial Dilatative Myopathy Disordered Steroidogenesis Distal Arthrogryposis Syndrome 1 Distal Arthrogryposis Syndrome 2b Distal Renal Tubular Acidosis Distal Renal Tubular Acidosis with Late-onset Sensorineural Hearing Loss Distal Renal Tubular Acidosis with Progressive Deafness Dopamine Beta Hydroxylase Deficiency Drug-induced Hemolysis Haemoglobin Variant Dubin-Johnson Syndrome Dysalbuminemic Hyperthyroxinaemia Familial Dysautonomia Familial Dysfibrinogenaemia Fibrinogen Amiens 1 Fibrinogen Amiens 2 Fibrinogen Bergamo 3 Fibrinogen Bern 2 Fibrinogen Bicetre 1 Fibrinogen Birmingham 1 Fibrinogen Chapel Hill 2 Fibrinogen Clermont-Ferrand 1 Fibrinogen Giessen 1 Fibrinogen Leitchfield Fibrinogen Long Beach 1 Fibrinogen Louisville 1 Fibrinogen Manchester 1 Fibrinogen Paris 6 Fibrinogen Petoskey 1 Fibrinogen Seattle 2 Fibrinogen Sheffield 2 Fibrinogen Sydney 1 Fibrinogen Sydney 2 Fibrinogen White Marsh 1 Dysfibrinogenemia Dysfibrinogenemia Fibrinogen Bergamo 1 Dysfibrinogenemia Thrombophilia Dysfibrinogenemic Fibrinogen Hershey 2 Fibrinogen Homburg 2 Fibrinogen Homburg 3 Fibrinogen Kawaguchi 1 Fibrinogen Leogan Fibrinogen Metz 1 Fibrinogen New Albany Fibrinogen Osaka 1 Fibrinogen Schwarzach 1 Fibrinogen Stony Brook 1 Fibrinogen Zurich 1 Fibrinogen Torino 1 Fibrinogen Ledyard Fibrinogen Hershey 3 Fibrinogen Milano XII Digenic Dyskeratosis Congenita Dystonia 12 Dystonia Adult-onset Dystonia Dopa-responsive Dystonia Torsion Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Cardiac Valvular Form Ehlers-Danlos Syndrome Hypermobility Type Ehlers-Danlos Syndrome Progeroid Form Ehlers-Danlos Syndrome Spondylocheiro Dysplastic Form Ehlers-Danlos Syndrome Type I Ehlers-Danlos Syndrome Type II Ehlers-Danlos Syndrome Type IV Ehlers-Danlos Syndrome Type VI-A Ehlers-Danlos Syndrome Type VI-A Nevo Syndrome Ehlers-Danlos Syndrome Type VII Ehlers-Danlos Syndrome Type VII-A Ehlers-Danlos Syndrome Ehlers Danlos VIIA VIIB 7A 7B Type VII-B Elliptocytosis Elliptocytosis Hemolytic Anemia Neonatal Nonimmune Fatal and Near-fatal Elliptocytosis Rhesus-Unlinked Type Elliptocytosis Rhesus-Unlinked Type Pyropoikilocytosis Hereditary Encephalopathy Ethylmalonic Encephalopathy Familial with Neuroserpin Inclusion Bodies Enhanced S-cone Syndrome Enhanced S-cone Syndrome Retinitis Pigmentosa Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Dystrophica Localisata Variant Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex Ogna Type Epidermolysis Bullosa with Pyloric Atresia Epidermolysis Bullosa without Pyloric Atresia Generalized Atrophic Benign Epidermolysis Bullosa Dowling Meara Dowling-Meara Epidermolysis Bullosa Generalized Atrophic Benign Epidermolysis Bullosa Herlitz Epidermolysis Bullosa Junctional Epidermolysis Bullosa Junctional Herlitz Type Epidermolysis Bullosa Junctional with Pyloric Atresia Epidermolysis Bullosa Koebner Epidermolysis Bullosa Lethal Acantholytic Epidermolysis Bullosa Pretibial Epidermolysis Bullosa Weber-Cockayne Epidermolytic Hyperkeratosis Epidermolytic Palmoplantar Keratoderma associated with Knuckle Pads Epilepsy Benign Neonatal Epilepsy Childhood Absence Epilepsy Nocturnal Frontal Lobe Epilepsy Progressive Myoclonus Epilepsy Juvenile Absence Epilepsy Juvenile Myoclonic Epilepsy Severe Myoclonic of Infancy Dravet Syndrome Epilepsy Myoclonic of Lafora Epilepsy Myoclonic with Mental Retardation and Spasticity Epiphyseal Dysplasia Epoxide Hydrolase Deficiency Susceptibility to Lymphoproliferative Disorder Epstein Syndrome Erythermalgia Primary Erythrocyte Lactate Transporter Defect Escobar Syndrome Essential Fructosuria Ethylmalonic Aciduria Excessive Daytime Sleepiness Exostoses Multiple Type II Extrapyramidal Movement Disorder Fabry Disease Faciogenital Dysplasia with Attention Deficit Hyperactivity Disorder Factor H Deficiency Factor V and Factor VIII Deficiency Combined Factor V Deficiency Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor XII Deficiency Familial Advanced Sleep Phase Syndrome Familial Cold Autoinflammatory Syndrome Familial Dysautonomia Familial Mediterranean Fever Fanconi Anemia Complementation Group A Fanconi Anemia Complementation Group C Fanconi Anemia Complementation Group D1 Fanconi Anemia Complementation Group E Fanconi Anemia Complementation Group J Fanconi Anemia Complementation Group N Farber Lipogranulomatosis Fechtner Syndrome Fibromatosis Juvenile Hyaline Fish-eye Disease Focal Segmental Glomerulosclerosis Foveomacular Dystrophy Adult-onset with Choroidal Neovascularization Fragile X Mental Retardation Syndrome Frasier Syndrome Friedreich Ataxia Friedreich-Like Ataxia with Isolated Vitamin E Deficiency Frontotemporal Dementia Frontotemporal Dementia with Parkinsonism Frontotemporal Lobar Dementia Ubiquitin-Positive Fuchs Endothelial Corneal Dystrophy Polymorphous Posterior Fucosidosis Fucosyltransferase-6 Deficiency Fumarylacetoacetase Pseudodeficiency Galactosemia Galactosialidosis Adult Japanese Type Galactosialidosis Late Infantile Gangliosidosis GM1 Gangliosidosis GM1 Late InfantileJuvenile Type Gaucher Disease Type I Gaucher Disease Type II Gaucher Disease Type II Perinatal Lethal Form Gaucher Disease Type III Gaucher Disease Type IIIC Gelatinous Drop-like Corneal Dystrophy Generalized Epilepsy and Paroxysmal Dyskinesia Generalized Idiopathic Epilepsy Episodic Ataxia Type 5 Gerstmann-Straeussler Syndrome Giant Axonal Neuropathy Gilbert Syndrome Gitelman Syndrome Glanzmann Thrombasthenia Glaucoma Primary Congenital Glaucoma 1 Open Angle E Glaucoma 1 Open Angle E Glaucoma Normal Tension Glaucoma 1A Open Angle Glaucoma 1A Primary Open Angle Glaucoma 1A Primary Open Angle Digenic Glaucoma 3A Primary Congenital Digenic Glucocorticoid Deficiency Glucose Glucose-6-phosphate phosphate Dehydrogenase Deficiency Glutamate Formiminotransferase Deficiency Glycine methyltransferase N-methyltransferase Deficiency Glycogen Storage Disease Type 0 Glycogen Storage Disease Type Ia Glycogen Storage Disease Type Ib Glycogen Storage Disease Type II Glycogen Storage Disease Type II Adult Form Glycogen Storage Disease Type II Infantile Form Glycogen Storage Disease Type IIIa Glycogen Storage Disease Type IV Classic Hepatic Glycogen Storage Disease Type IV Childhood Neuromuscular Glycogen Storage Disease Type IV Nonprogressive Hepatic Glycogen Storage Disease Type VI Glycogen Storage Disease Type VII GM1-Gangliosidosis AdultChronic Type GM2GM2-Gangliosidosis Gangliosidosis Adult Goiter Familial with Hypothyroidism Goiter Nonendemic Simple Gout HPRT related HPRT-related GRACILE Syndrome Greater Agonists Promoted Contractility Greig Cephalopolysyndactyly Syndrome Griscelli Syndrome Type 2 Growth Hormone Deficiency Growth Hormone Deficiency Isolated Growth Hormone Deficiency Isolated Type 2 Growth Retardation due to IGF1R Gyrate Atrophy Gyrate Atrophy with Pyridoxine-responsive Ornithinemia Haemoglobin H Disease Haemorrhagic Telangiectasia 1 Hailey-Hailey Disease Haim-Munk Syndrome Harderoporphyria Harlequin Ichthyosis HARP Syndrome Hartnup Disorder Hawkinsinsuria Hearing Impairment Nonsyndromic Sensorineural Hemochromatosis Hemochromatosis Type 2A Hemochromatosis Type 3 Hemochromatosis Type 4 Hemolytic Anemia Hemolytic Anemia due to Adenylate Kinase Deficiency Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes Hemolytic Anemia due to Triosephosphate Isomerase Deficiency Hemolytic Anemia Rh-Null Regulator Type Hemolytic Uremic Syndrome Hemophagocytic Lymphohistiocytosis Familial Hemophilia A Hemophilia B Hemophilia B Leyden Hemophilia B Brandenburg Hemorrhagic Diathesis due to Antithrombin Pittsburgh Heparin Cofactor II Deficiency Hepatic Lipase Deficiency Hereditary Angioedema Type II Hereditary Haemorrhagic Telangiectasia Type 2 Hereditary Hypophosphatemic Rickets with Hypercalciuria Hereditary Myopathy with Early Respiratory Failure Hereditary Nonpolyposis Colorectal Cancer Type 1 Hereditary Nonpolyposis Colorectal Cancer Type 2 Hereditary Nonpolyposis Colorectal Cancer Type 5 Hereditary Nonpolyposis Colorectal Cancer Type 7 Hereditary Nonployposis Colorectal Cancer Type 9 Hereditary Nonployposis Colorectal Cancer Type 10 Hereditary Persistence of Fetal Hemoglobin Hermansky-Pudlak Syndrome Heterotaxy Hidrotic Ectodermal Dysplasia High Myopia Hirschsprung Disease Hirschsprung Disease Congenital Hypoventilation Syndrome Hirschsprung Disease Waardenburg-Shah Syndrome HLA Class I Deficiency HMG-CoA Lyase Deficiency HMG-CoA Synthase Deficiency Holocarboxylase Synthetase Deficiency Holoprosencephaly 2 Holoprosencephaly 3 Holoprosencephaly 5 Holoprosencephaly 7 Holoprosencephaly 9 Homocystinuria Hurler Syndrome Hutchinson-Gilford Progeria Syndrome Restrictive Dermatopathy Lethal Hydatidiform Mole Recurrent Hydrocephalus X-linked Hyperbilirubinemia Transient Familial Neonatal Hypercholanemia Familial Hypercholesterolemia Familial Hyperekplexia Hyperglycerolemia Hyperglycinemia Non-ketotic Glycine Encephalopathy Hypergonadotrophic Hypogonadism Female Hyperhomocysteinemia due to MTHFR Deficiency Folate Responsive Hyper-IgD Syndrome Hyper-IgE Syndrome Hyperinsulinism-hyperammonemia Syndrome Hyperkalaemic Periodic Paralysis Paramyotonia Congenita Hyperlipidemia Familial Combined Hyperornithinemia-hyperammonemia-homocitrullinemia Syndrome Hyperostosis-Hyperphosphatemia Syndrome Hyperphenylalaninemia Hyperphenylalaninemia Non-PKU Hyperproinsulinaemia Familial Hyperprolinemia Type 1 Schizophrenia Hypertriglyceridemia Hereditary Hypocalciuric Hypercalcaemia Familial Hypoparathyrodism Familial Isolated Hypocholesterolaemia Hypocholinesterasaemia Hypochondroplasia Hypogammaglobulinemia Hypoglycaemia Persistent Hyperinsulinaemic Hypoglycemia Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism Fertile Eunuch Syndrome Hypokalaemic Periodic Paralysis Hypomagnesaemia with Secondary Hypocalcaemia Hypomagnesaemia Primary Hypomagnesaemia Renal Hypoparathyroidism Familial Isolated Hypoparathyroidism Familial Isolated Hypocalemia with Bartter Syndrome Hypoparathyroidism-retardation-dysmorphism Syndrome Hypophosphatasia Infantile Hypophosphatasia Infantile Mild Hypophosphatemia Hypophosphatemic Rickets Hypoplastic Left Heart Syndrome Atrioventricular Septal Defect Hypothyroidism Thyroid Hormonogenesis Genetic Defect in Hypothyroidism Congenital Nongoitrous Hypotrichosis Hypotrichosis Simplex Hypotrichosis Simplex of Scalp Hypoxanthine Guanine Phosphoribosyltransferase Deficiency Hystrix-Like Ichthyosis with Deafness Keratitis-ichthyosis-deafness Syndrome Ichthyosis Vulgaris Ichthyosis with Hypotrichosis Ichthyosis Harlequin Ichthyosis Lamellar Idiopathic Infantile Nystagmus Idiopathic Pulmonary Fibrosis Idiopathic Restrictive Cardiomyopathy Immunodeficiency with Hyper-IgM Type 2 Immunodeficiency with Hyper Hyper-IgM IgM Type 3 Immunodeficiency with Hyper-IgM Type 5 Immunologically Anomalous Variant Inclusion Body Myopathy Infantile Nephronophthisis Intrahepatic Cholestasis of Pregnancy Intrahepatic Cholestasis Familial Progressive 2 Intrauterine and Postnatal Growth Retardation Short Stature Iodide Transport Defect Thyroid Hormonogenesis Genetic Defect in IPEX syndrome Iris Flocculi Isolated Lissencephaly Sequence Isolated Partial Atrioventricular Septal Defect Isovaleric Acidemia ITPase Deficiency Jervell and Lange-Nielsen Syndrome JK-Null Variant Finnish Type Joubert Syndrome Joubert Syndrome 2 Joubert Syndrome 3 Joubert Syndrome Leber Congenital Amaurosis Type X Juvenile PolyposisHereditary Hemorrhagic Telangiectasia Syndrome Kallmann Syndrome Kallmann Syndrome 2 Kartagener Syndrome Hemolytic Disease of the Newborn due to Anti-K Keratitis-ichthyosis-deafness Syndrome Keratoderma palmoplantar Keratoderma Palmoplantar with Deafness Nonsyndromic Sensorineural Knuckle pads Leukonychia Sensorineural Deafness Kowarski Syndrome Larsen Syndrome Late Infantile Metachromatic Leukodystrophy Lateral Temporal Lobe Epilepsy Lead Poisoning Increased Susceptibility to Leber Congenital Amaurosis Type I Leber Congenital Amaurosis Type III Leber Congenital Amaurosis Type VI Leber Congenital Amaurosis Type VII Leber Congenital Amaurosis Type X Leber Hereditary Optic Neuropathy Leber Hereditary Optic Neuropathy Severe Leber Optic Atrophy Leigh Syndrome Leigh Syndrome due to Mitochondrial Complex I Deficiency Leigh Syndrome French-Canadian Type Leiomyomatosis and Renal Cell Cancer Leprechaunism Lesch-Nyhan Syndrome Lethal Arthrogryposis with Anterior Horn Cell Disease Lethal Congenital Contracture Syndrome Lethal Contractural Syndrome Type 3 Leukocyte Adhesion Deficiency Leukoencephalopathy with Vanishing White Matter Leukoencephalopathy with Vanishing White Matter Ovarioleukodystrophy Leydig Cell Hypoplasia with Male Pseudohermaphroditism Liddle Syndrome Li-Fraumeni Syndrome Lipodystrophy with Diabetes Lipodystrophy Familial Partial Type II Dunnigan Lipoprotein Lipase Deficiency Lissencephaly Subcortical Laminar Heterotopia Liver Glycogenosis Type I Liver Glycogenosis Type II Lujan-Fryns Syndrome Lymphangioleiomyomatosis Lymphoedema Hereditary Lymphoedema-distichiasis Syndrome MacrocephalyAutism Syndrome Macular Degeneration Juvenile Macular Dystrophy Macular Dystrophy Best Macular Dystrophy Vitelliform Majeed Syndrome Mal de Meleda Malignant Hyperthermia Malonyl-CoA Decarboxylase Deficiency Mannose-binding Protein Deficiency Maple Syrup Urine Disease Type IA Maple Syrup Urine Disease Type IB Maple Syrup Urine Disease Type II Thiamine-response Maple Syrup Urine Disease Type III Marfan Syndrome Marfan Syndrome Atypical Marfan Syndrome Neonatal Marfan Syndrome Severe Classic Marfan Syndrome Type II Marfanoid Skeletal Syndrome MASA syndrome Mast Cell Leukemia Mastocytosis Sporadic Childhood-onset Maturity-onset Diabetes of the Young Type III Maximum Parasitemia Mild Malaria Attack May-Hegglin Anomaly McArdle Disease McCune-Albright Syndrome McKusick Kaufman McKusick-Kaufman Syndrome Meckel Syndrome Meckel Syndrome Type 3 Mediterranean Macrothrombocytopenia Medium Chain Acyl CoA Dehydrogenase Deficiency Meesmann Corneal Dystrophy Megablastic Anemia Norwegian Megalencephalic Leukoencephalopathy with Subcortical Cysts Megaloblastic Anemia Finnish Type Megaloblastic Anemia Thiamine-Responsive MELAS Syndrome Melnick-Needles syndrome Membranoproliferative Glomerulonephritis Type II and Dense Deposit Disease Meningioma Li-Fraumeni Syndrome Menkes Disease Mild MERRF Syndrome MERRFMELAS Overlap Syndrome Metachromatic Leukodystrophy Atypical Metachromatic Leukodystrophy Adult Metachromatic Leukodystrophy Juvenile Metaphyseal Dysplasia without Hypotrichosis Methionine Synthase Reductase Deficiency Methylmalonic Aciduria cblB type Methylmalonic Aciduria and Homocystinuria cblC Type Methylmalonic Aciduria mut0 Type Mevalonic Aciduria Microhaematuria and Protinuria Microphallus Microphthalmia with Associated Anomalies Microphthalmia Posterior with Retinitis Pigmentosa Foveoschisis and Optic Disc Drusen Migraine Familial Hemiplegic Migraine Familial Hemiplegic with Progressive Cerebellar Ataxia Migraine Sporadic Hemiplegic with Progressive Cerebellar Ataxia Mitochondrial Complex 1 Deficiency Mitochondrial Cytochrome c Oxidase Deficiency Mitochondrial DNA Depletion Syndrome Hepatocerebral Form Mitochondrial Myopathy and Sideroblastic Anemia Mitochondrial Neurogastrointestinal Encephalopathy Mitochondrial Neurogastrointestinal Encephalopathy without Leukoencephalopathy Miyoshi Myopathy ML LEOPARD Syndrome Monilethrix Mucolipidosis Type II Mucolipidosis Type II AlphaBeta Mucolipidosis Type III Mucolipidosis Type III AlphaBeta Mucolipidosis Type III Gamma Mucolipidosis Type IIIC Mucolipidosis Type IV Mucopolysaccharidosis Type II Severe Form Mucopolysaccharidosis Type IVA Mucopolysaccharidosis Type IVA Mild Mucopolysaccharidosis Type VI Multi-minicore Disease Multiple Acyl-CoA Dehydrogenase Deficiency Multiple Carboxylase Deficiency Biotin-responsive Multiple Cutaneous and Uterine Leiomyomata Multiple Diastrophic Dysplasia Multiple Endocrine Neoplasia Type I Multiple Endocrine Neoplasia Type I Burin Variant Prolactinoma Hyperparathyroid Carcinoid Syndrome Multiple Endocrine Neoplasia Type IIA Pheochromocytoma Multiple Endocrine Neoplasia Type IV Multiple Epiphyseal Dysplasia Muscle Weakness Atrial Fibrilation Hypertriglyceridaemia Muscle-eye-brain Disease Muscle-eye-brain Like Disease Muscular Dystrophy Becker Muscular Dystrophy Duchenne Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy Limb Girdle Type 1A Myotilinopathy Muscular Dystrophy Limb Girdle Type 1B Muscular Dystrophy Limb Girdle Type 1C Muscular Dystrophy Limb Girdle Type 2B Muscular Dystrophy Limb Girdle Type 2D Muscular Dystrophy Limb Girdle Type 2E Muscular Dystrophy Limb Girdle Type 2I Muscular Dystrophy Limb Girdle Type 2K Muscular Dystrophy Merosin Deficient Myasthenic Syndrome Myeloperoxidase Deficiency Myoclonus-Dystonia Syndrome Myofibrillar Myopathy ZASP related Myopathy Myopathy due to Muscle Phosphoglycerate Mutase Deficiency Myopathy Desmin related Myopathy Distal with Rimmed Vacuoles Myopathy Early onset Earlyonset Early-onset and Progeria Myopathy Mitochondrial Late-onset Myopathy Mitochondrial with Diabetes Mellitus Myopathy Variable Inducable with Anesthesia Myotilinopathy Myotonia Fluctuans Myotonic Dystrophy Type 1 Nail-Patella Syndrome Naxos Disease Nemaline Myopathy Neonatal Adrenoleukodystrophy Neonatal Alloimmune Thrombocytopenic Purpura Posttransfusion Purpura Neonatal Death Leigh Syndrome Nephrolithiasis Hypercalciuric Nephronophthisis Nephronophthisis 1 Nephronophthisis Familial Juvenile Nephrotic Syndrome Steroid Resistant Netherton Syndrome Neural Tube Defects Neuroblastoma Neurofibromatosis Type I Neurofibromatosis 1–like Phenotype Neurofibromatosis Type II Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Late Infantile Neuropathy Axonal with Vocal Cord Paresis Neuropathy Axonal Distal Hereditary Motor Type IIB 2B Neuropathy Distal Hereditary Motor Type V Neuropathy Hereditary Sensory Type I Neuropathy Hereditary Sensory Type II Neuropathy Hereditary Sensory and Autonomic Type V Loss of Pain & Temperature Perception Neuropathy with Liability to Pressure Palsies Neutropenia Congenital Neutropenia Cyclic Neutropenia Nonimmune Chronic Idiopathic of Adults Neutropenia Severe Congenital Nevus Epidermal Epidermolytic Hyerkeratotic Type Niemann-Pick Disease Type A Niemann-Pick Disease Type B Niemann-Pick Disease Type C1 Niemann-Pick Disease Type C2 Niemann-Pick Disease Variant Type C1 Nijmegen Breakage Syndrome Nocturnal Frontal Lobe Epilepsy Type 4 with Nocturnal Wandering and Ictal Fear Noncompaction Left Ventricular associated with Congenital Heart Defects Noncompaction Left Ventricular Isolated Noncompaction Left Ventricular Myocardium Familial Isolated Non-heterotaxy heterotaxy nonheterotaxy Cardiac Malformation Nonsyndromic Hearing Impairment Noonan Syndrome Noonan Syndrome 3 Noonan Syndrome LEOPARD Syndrome Normal Tension Glaucoma Norrie Disease Nucleoside Phosphorylase Deficiency Obesity Hyperphagia and Developmental Delay Obesity Severe Obesity Morbid with Hypogonadism Occlusive Cerebrovascular Disease Oculofaciocardiodental Syndrome Odontoonychodermal Dysplasia Omenn Syndrome Ophthalmoplegia Progressive External with Hypogonadism Opitz-Kaveggia Opitz Kaveggia Syndrome Optic Atrophy 1 Optic Atrophy 1 with Deafness Optic Atrophy Deafness Opthalmoplegia and Myopathy Optic Atrophy and Cataract Ornithine Transcarbamylase Deficiency Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type III Osteogenesis Imperfecta Type IV Osteogenesis Imperfecta Ehlers Ehlers-Danlos Danlos Crossover Syndrome Osteopetrosis Osteopetrosis Type 2 Osteoporosis-pseudoglioma Syndrome Otopalatodigital Syndrome 2 Pachyonychia Congenita Type 1 Pachyonychia Congenita Type 2 Palmoplantar Keratoderma Epidermolytic Pancreatitis Chronic Pantothenate Kinase-associated Neurodegeneration Atypical Pantothenate Kinase-associated Neurodegeneration PAPA syndrome Papillon-Lefevre Syndrome Paragangliomas Phaeochromocytoma Paramyotonia congenital Parkinson Disease Parkinson Disease Early-onset Parkinsonism Juvenile Autosomal Recessive Paroxysmal Extreme Pain Disorder Partial Atrioventricular Septal Defect and Heterotaxy Syndrome Peeling Skin Syndrome Pelizaeus-Merzbacher Disease Mild Pendred Syndrome Periodic Fever Autosomal Dominant Periodontitis Juvenile Periventricular Heterotopia with Microcephaly Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Complementation Group 3 Peroxisome Biogenesis Disorder Complementation Group 8 Peroxisome Biogenesis Disorder Complementation Group 9 Persistence of Fetal Hemoglobin Peters' Anomaly Peutz-Jeghers Syndrome Pfeiffer Syndrome Jackson-Weiss Syndrome Pfeiffer Syndrome Type III Phenylketonuria Pheochromocytoma Phosphoserine Phosphatase Deficiency Piebaldism with Sensorineural Deafness Pigmentary Retinopathy and Sensorineural Deafness Pigmented Nodular Adrenocortical Disease Primary Pigmented Paravenous Chorioretinal Atrophy Pitt-Hopkins Syndrome Placental Aromatase deficiency Platelet Glycoprotein IV Deficiency Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Polycythemia Vera Polycythemia Chuvash Type Polymicrogyria Bilateral Frontoparietal POR Deficiency Porphyria Cutanea Tarda Porphyria Acute Hepatic Delta-aminolevulinate Dehydratase Porphyria Porphyria Acute Intermittent Porphyria Acute Intermittent Nonerythroid Variant Porphyria Hepatoerythropoietic Porphyria Variegate Postanesthetic Apnea Posterior Polymorphons Corneal Dystrophy 1 Prealbumin Chicago Euthyroid Dystransthyretinemic Hyperthyroxinemia Precocious Puberty Male-Limited Premature Ovarian Failure Primary Congenital Glaucoma Primary Spontaneous Pneumothorax Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Type 2 Progressive Familial Intrahepatic Cholestasis Benign Recurrent Intrahepatic Cholestasis Progressive Supranuclear Palsy Progressive Supranuclear Palsy Parkinson Disease Prolonged Bleeding Time due to Plasminogen Activator Inhibitor 1 Deficiency Properdin Deficiency Type I Properdin Deficiency Type II Propionic Acidemia Protoporphyria Erythropoietic Pseudoachondroplasia Pseudohermaphroditism Leydig Cell Hypoplasia Pseudohermaphroditism Male Pseudohypoaldosteronism Type 1 Pseudohypoparathyroidism 1a with Testotoxicosis Pseudorheumatoid Dysplasia Progressive Pseudovaginal Perineoscrotal Hypospadias Pseudoxanthoma Elasticum Pulmonary Arterial Hypertension Primary Dexfenfluramine-associated Pulmonary Hypertension Primary Pulmonary Surfactant Metabolism Dysfunction Type 2 Respiratory Insufficiency Infantile-onset Progressive Pulmonary Toxicity when Exposed to Thioureas Pycnodysostosis Pyridoxine Responsive Homocystinuria Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase E1-alpha Deficiency Pyruvate Dehydrogenase E1 beta E1-beta Deficiency Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Amish Type RAPADILINO Syndrome Refsum Disease Refsum Disease Infantile Form Reifenstein Syndrome Renal Glucosuria Renal Tubular Dysgenesis Restrictive Cardiomyopathy Retinal Degeneration in Ciliopathies Retinal Degeneration with Early Macular Involvement Retinitis Pigmentosa Retinitis Pigmentosa 1 Retinitis Pigmentosa 2 Retinitis Pigmentosa 4 Retinitis Pigmentosa 19 Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy Retinitis Pigmentosa without Hearing Loss Retinitis Pigmentosa Digenic Retinitis Pigmentosa Late-onset Retinitis Punctata Albescens Retinitis Punctata Albescens Newfoundland Rod-cone Dystrophy Retinoblastoma Retinoblastoma Incomplete Penetrance Type Rheumatoid Arthritis Juvenile Systemic Onset Rhizomelic Chondrodysplasia Punctata Type 2 Rhizomelic Chondrodysplasia Punctata Type 3 Rickets Vitamin D-dependent Type I Rickets Vitamin D-dependent Type II Rickets Vitamin D-resistant Type I Ring Dermoid of the Cornea Rippling Muscle Disease 2 Robinow Syndrome Rod Monochromacy Romano-Ward Syndrome Rothmund-Thomson Syndrome Roussy-Levy Syndrome Rubinstein-Taybi Syndrome Saddan Dysplasia Salt-Wasting Congenital Adrenal Hyperplasia Sandhoff Disease Infantile Type Scheie Syndrome Schnyder Crystalline Corneal Dystrophy Schwannomatosis Scott Syndrome Seckel Syndrome Segawa Syndrome Senile Amyloidosis Inclusion Body Myositis Senior-Loken Syndrome Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis Severe Combined Immunodeficiency SCID Athabascan-Type Severe Combined Immunodeficiency SCID B Cell-negative Severe Combined Immunodeficiency SCID B-Cell-negative T Cell-negative NK Cell-negative Severe Combined Immunodeficiency B Cell-positive T Cell-negative NK Cell-positive Severe Metachromatic Leukodystrophy Shah-Waardenburg Syndrome Short Chain Acyl-CoA-dehydrogenase Deficiency Shwachman-Diamond Syndrome Sialidosis Type II Sialuria Sickle Cell Disease Sickle Cell Anemia Sickle Cell Trait Sideroblastic Anemia and Spinocerebellar Ataxia Sideroblastic Anemia Hereditary Simple Virilizing Congenital Adrenal Hyperplasia Simpson Golabi Behmel Simpson-Golabi-Behmel Syndrome Sinus Bradycardia Syndrome Familial Sinus Node Disease Sitosterolemia Sjogren Larsson Sjogren-Larsson Syndrome Skeleton-Skin-Brain Syndrome Skin Fragility-Woolly Hair Syndrome Small Patella Syndrome Smith-Lemli-Opitz Syndrome Spastic Paralysis Infantile-onset Spastic Paraplegia Spastic Paraplegia 3 Spastic Paraplegia 10 Spastic Paraplegia Autosomal Dominant Spherocytosis Hereditary Spherocytosis Hereditary due to Protein 4.2-Notame Spherocytosis Hereditary Japanese Type Spinal Muscular Atrophy Distal Childhood-onset Spinal Muscular Atrophy Type I Spondyloepiphyseal Dysplasia Tarda Spondyloepiphyseal Dysplasia Tarda Arthropathy Spondyloepiphyseal Dysplasia Omani Type Spongiform Encephalopathy with Neuropsychiatric Features Stargardt Disease Stargardt Disease Cone-rod Dystrophy 3 Stargardt Disease Mild Steroid reductase Steroid-5 Alpha-reductase Deficiency Stiff Skin Syndrome Subcortical Laminar HeterotopiaPachygyria Superoxide Dismutase Elevated Extracellular Supravalvular Aortic Stenosis Symphalangism Symphalangism Proximal Symphalangism Type 1 Synpolydactyly 1 Tangier Disease Tarsal-Carpal Coalition Syndrome Tay-Sachs Disease Tay-Sachs Disease AB Variant Tay-Sachs Disease B1 Variant Thalassemia Beta Thalassemia Beta-Plus Thalassemia Delta Thanatophoric Dysplasia Type I Thanatophoric Dysplasia Type II Thin Basement Membrane Disease Thoracic Aortic Aneurysm and Dissection Thrombocythemia Essential Thrombocytopenia Thrombocytopenia 1 Thrombocytopenia with associated Acute Myeloid Leukemia Thrombocytosis Thrombophilia due to Heparin Cofactor II Deficiency Thrombophilia due to Plasminogen Deficiency Thrombotic Thrombocytopenic Purpura Congenital Thyroid Hormone Resistance Generalized Thyroxine-binding Globulin Deficiency Partial Thyroxine-binding Globulin Deficiency Slow Tibial Muscular Dystrophy Tardive Timothy Syndome Tolbutamide Poor Metabolizer Total Iodide Organification Defect Tourette Syndrome Tourette Syndrome Facial Tic TPMT Deficiency Transcobalamin II Deficiency Transient Bullous Dermolysis of the Newborn Transposition of the Great Arteries Dextro-looped Treacher-Collins Syndrome Trichorhinophalangeal Syndrome Type I Trichothiodystrophy Xeroderma Pigmentosum Group D Trichotillomania Trigonocephaly Antley-Bixler Syndrome Trimethylaminuria Troyer Syndrome Tuberculoid Leprosy versus Lepromatous Leprosy Tuberous Sclerosis Tumoral Calcinosis Hyperphasphatemic Tyrosinemia Type I Tyrosinemia Type II Tyrosinemia Type III Unna Unna-Thost Thost Disease Urea Transport Defect JK-Null Variant Usher Syndrome Type 1B Usher Syndrome Type 1C Usher Syndrome Type 1D Usher Syndrome Type 1F Usher Syndrome Type 1G Usher Syndrome Type 2A Usher Syndrome Syndromes Unknown Searching Search Type 2C Usher Syndrome Type 3 UV-sensitive Syndrome Vohwinkel Syndrome Von Hippel-Lindau syndrome Von Willebrand Disease Type I Von Willebrand Disease Type IIB Von Willebrand Disease Type IIM Von Willebrand Disease Type III Waardenburg Syndrome Type IIA Waardenburg Syndrome Type III Waardenburg Syndrome Type IVA 4A 2B IIC III II IV V VI VII VIII IX Walker Warburg Walker-Warburg Syndrome Werner Syndrome Werner Syndrome Atypical WHIM Syndrome Wilson Disease Wiskott Aldrich Wiskott-Aldrich Syndrome WiskottAldrich Attenuated Wolff Parkinson White Wolff-Parkinson-White Syndrome Hereditary Wolman Disease Xanthinuria Type I Xeroderma Pigmentosum Complementation Group C Xeroderma Pigmentosum Complementation Group D Xeroderma Pigmentosum Complementation Group E Xeroderma Pigmentosum Complementation Group G XRCC3 Deficiency XY Sex Reversal with Adrenal Insufficiency XY Sex Reversal without Adrenal Insufficiency Zellweger Syndrome Zellweger Syndrome Complementation Group G 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers Genos Veritas Verily HLI HumanLongevity 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189 Silverberry Genomix Genomics SB SBG Silver Berry Longevity Long life Long-life 888 Nutrition Weight Management Care Skin Sensitivities Cognitive health memory brain dementia performance recall daily living ADLs ADL reserve plasticity neural neurons neural-plasticity cerebral cerebral-plasticity expectancy guide guidance instructions instruction balance health biology wellness life-time Achilles Tendinopathy Tendinitis Anterior Cruciate Ligament Rupture ACL Carb Overconsumption Carbohydrate Carbohydrates Carbos Consumption Consuming Collagen Breakdown Elasticity Wrinkles Wrinkle Difficulty Losing Weight Dryness Exercise Benefits Blood Pressure Diastolic Systolic BP Lowering Cholesterol Maximal Oxygen Uptake Response MOUR O2 Facial Pigmented Spots solar sunspots sun-spots spots Fat Overconsumption Joint Injury Risk Lean Body Mass Potential LBM Low Protein Intake Resting Metabolic Rate RMR Metabolism Vegetable Intake Veggies Low-carb Diet Effectiveness Low-fat Paleo Keto Keogenic Ketosis Atkins Mediterranean Diet Effectiveness Diets Dieting Memory Performance Misophonia Hearing Ears Hearingloss hearing-loss loss Motion Sickness Muscle Damage Soreness Strength Noise-induced hearing loss Overall Fitness Benefits Tendon Ligament Injury Overweight Potential Photoaging sunaging solaraging aging anti-aging antiaging slowaging slow-aging slowing age Resistance Stomach Flu norovirus Sagging Eyelids appearance vanity youthfulness Satiety Impairment Sensitivity Salt Slow Muscle Repair Stress Fracture mirror forever beauty beautiful attraction attractive hot sexy sex sensual viagra sildenafil cialis levitra skincare cognition brain-health brain mindfulness mind awareness aware think thinking allergens allergies gluten allergy allergen calf muscles smoking polyphenols polyphenol carotenoids carotenoid flavonoid flavonoids topical topicals agent agents retinoids retinoid retinol vitamin A vit-A vitaminA vitamin-A biofalvonoid bioflavonoids proanthocyanidins proanthocyanidin grape seed extract extracts polyphenols polyphenol resveratrol resveratrols green white teas tea soy phytoestrogens phytoestrogen chlorinated water chlorine alkaline H2O H20 alkaline-water alkalinewater acid acidic environmental bone broth bone-broth environment carcinogen carcinogens hazard hazards wrinkles imperfections imperfection blemish blemishes synthesis ultraviolet UV irritation exposure exposures MMP radical freeradicals free-radicals radicals premature pre-mature nature nurture nature-v-nurture nature-vs-nurture naturenurture vs versus balance balanced pyramid crystal crystals dance song happy glee gleeful spirited spirit long-term emotional emotion eating stress chronic stressors well-hydrated hydration elastic hydrated moisturizer moisturizers cream creams SPF sun protection factor protective golden years silver old oldage age Exfoliate Exfoliation Aquaporin water drink drinking inflammation AQP3 AQP glycerol urea plasma barrier permeability CLDN1 epidermis dermis epidermal dermal moving mowing lawn lawns vigorous moderate calf calves sodium salt coffee wheat bran sugar sugars Nutrition Food Eat Eating Weight Loss Foods Vitamins Supplements Viamim Vitamin Spplement Supplement Supps Vits Supp Vit Tablets Tablet Fitness Athletic Althletics Workout Gym Exercise Exercises Inshape Ultimate Best Uber Amazing Supreme Topnotch Top Schwarzenegger Mood Attitude Profile Profiles School Curriculum Teacher Excel Improve Learn Grade Better Score Empathy Extraversion Extravert Introvert Introversion Addiction Addictive Addictions Agreeableness Anger Creativity Experiential Learning Empathy Impairment Exploratory Precocious Impulsivity Leader Leadership Winner Winning Win Tiger Mathematical Math Skills Memory Reading Season Seasons Seasonality Worrier Warrier Warrior Worry War Anxious Anxiety Valium Xanax anxiolytic anxiolytics Personality Personal Emotion Aptitude Emotions Emotional Learning Behavior Behaviors goal goals wunderlust wanderlust wonderlust travel morning night chronotype lark music reading education children child childhood kid kids study studious SAT GMAT MCAT standardized test testing tests Addictive Personality Agreeable Agreeableness Anger Happiness Awareness Mindful Mindfulness Happy Glad Sad Thoughtful Thoughtfulness Kindness Loving LovingKindness Response Creativity Empathy Experiential Learning Impairment Exploratory Behavior Extraversion Impulsivity Leadership Potential Mathematical Memory Performance Misophonia Morning Person Music Performance Aptitude Musical Creativity Optimism Read Reading Aptitude Season Seasonality Social Sociability Warrior Personality Scale Scales Pound Pounds lbs lb Aerobic performance Carb Overconsumption Comsumption Consumption Difficulty Losing Weight Exercise Aversion Exercise Benefits Lowering Cholesterol Fat Fats Fatso FTO TUB Tubby Fat-so Chubby Chubmeister Chubs Chubalicious Cubaholic Fataholic Bigbutt Bigbutts Butt Butts Exercise Benefits Max Maximal Oxygen Uptake Response Taste Tasting Perception Perceptions Joint Joints Injury Risk Lean Body Mass Potential Protein Intake Low Resting Metabolic Rate Low-carb Low-carbs Carbohydrate Carbohydrates Diet Effectiveness Low-fat Low-fats Diet Dieting Eating Eat Eats Food Foodie Foody Foodies Foods Effectiveness High-carb High-carbs High-carbohydrate High-carbohydrates Mediterranean Effectiveness Paleo Paleolithic Atkins Atkin Keto Ketogenesis Ketodiet Ketosis Keto-diet Mediterranean-diet Paleo-diet Paleo-nutrition Monounsaturated Benefits Muscle Response Resistance Training Strength Loss Fitness Benefits Overweight Potential Polyunsaturated Poly-unsaturated Fats Increased Benefits Saturated Satiety Impairment Slow Muscle Repair Snacking Snacks Snack Starch Metabolism Sweet Tooth Candy Sugar Candies Sweetness sweettooth sweet-tooth Trans Fats Sensitivity trans-fat trans-fats Nutrition Nutritional Habit Habits Balance Enzyme Enzymes Detox Detoxification Eating Eats Eat Food Foods Foodie Feeding Consuming Consumption Comsumption Caffeine Metabolism Impairment Calcium Deficiency Carb Carbohydrate Carbs Overconsumption Over-Consumption Choline Deficiency Coenzyme Q10 Co-Q10 CoQ10 Quinol Quinine CoQ ubiquinone ubidecarenone coenzyme Q Copper Fat Taste Perception General Food Sensitivities Sensitivity Allergy Allergies Gluten Sensitivity Iron Deficiency Iron Overload Lactose Intolerance Dairy Fart Farting Farts Gas Wind GasX Gas-X Flatulence Flatulance Low Protein Intake Resting Metabolic Rate Vegetable Intake Veggies Vegtables Low-carb Diet Effectiveness Low-carbohydrate Low-carbohydrates Low-fats Low-fat Diet Effectiveness Lutein Zeaxanthin Deficiencies Lycopene Magnesium Mediterranean Diet Effectiveness Dieting Diets Monounsaturated Fats Phosphorus Poly-unsaturated Polyunsaturated Saturated Satiety Impairment Selenium Sensitivity Salt Snacks Snack Snacking Starch Metabolism Sugar Sugartooth Sugar-tooth Sweet Snack Preference Sweet Tooth Trans Fats Sensitivity Caffeine Caffeinated P450 CYP1A2 1A2 CYP Starbucks Coffee Coffeebean Philz Choline Copper Iron Mineral Minerals cream creamers halfnhalf half-n-half creamer cream protein proteins Resting Metabolic Rate RMR lutein LZ Zeaxanthin winter squash, peas pea yellow corn beet greens pumpkin pumpkins Brussels sprouts Brussel broccoli romaine iceberg lettuce asparagus carrot carrot betacarotein leafy macula lutea radicals free tomato tomatoes nuts brazil cashew cashews sesame chocolate oat oats legumes legume avacodo avacadoes avacados fish meats PPARG MTHFR TCF7L2 LPL MLXIPL Menu Menus restaurant restaurants eatout takeaway order orderin orderout ADIPOQ phosphorus fish cod sardines halibut whiting bean beans nut nuts seed seeds chicken chickens freerange free-range cagefree cage-free wholefoods whole-foods whole foods Omega Omega-2 Omega-6 Omega-9 Fava Beans DHA EPA eicosapentaenoic acid docosahexaenoic herring salmon trout tuna omega3 omega6 omega9 omegas omega FADS fad flax flaxseed flaxseeds walnut walnuts nutritionist nutritionists dietician dieticians chew chewing liver calf calves crimini shiitake Brasil bread breads salt bagel baels lox processed fruit fruits farts impulse impulses starch-rich crave craving cheat cheatday cheating cheat-day day sugary blood sugar sugars AHA heart Supps Supplement Supplements Vitamins Vits Vitamin A Carotene A Retinol Deficiency B1 Deficiency VitaminA Vitamin-A VitA Vit-A VitaminB1 Vitamin-B1 VitB1 Vit-B1 VitaminB Vitamin-B VitB Vit-B VitaminB12 Vitamin-B12 VitB12 Vit-B12 VitaminB2 Vitamin-B2 VitB2 Vit-B2 VitaminB3 Vitamin-B3 VitB3 Vit-B3 VitaminB5 Vitamin-B5 VitB5 Vit-B5 VitaminB6 Vitamin-B6 VitB6 Vit-B6 VitaminB7 Vitamin-B7 VitB7 Vit-B7 VitaminB9 Vitamin-B9 VitB9 Vit-B9 VitaminC Vitamin-C VitC Vit-C VitaminD Vitamin-D VitD Vit-D VitaminK Vitamin-K VitK Vit-K VitaminZ Vitamin-Z VitZ Vit-Z Thiamine naphthoquinone D3 ascorbic L-ascorbic ascorbicacid ascorbic-acid Folate Folic Folic-Acid Folicacid FA-8 FA8 Biotin pyridoxal 5′-phosphate Pyridoxine Pantothenic Pantothenic-acid Pantothenicacid pantothenate Niacin Niacinamide Riboflavin eggs egg green vegetables vegetable milk dairy moo cow cows meat mushroom mushrooms almonds almond amond cobalamin methylcobalamin nanocobalamin methyl-cobalamin B12 B2 B3 B5 B6 B7 B9 C D E K Zinc Sports Fitness Exercise body's composition body fit BMI PBF Body Mass Index Percentage Body Fat shredded shreding shred abs abdominals cut training cardiovascular aerobic anaerobic anarobic push-up push-ups pull-up pull-ups push pull ups lunges curls curl lunge bicep tricep leg arm legs arms chest back butt running run cycling cycle bike biking spin spinning swimming swim pool risk walking walk skipping rope rowing row hiking hike playing play tennis basketball fighting martial arts jujitsu continuous training short dumbbells dumbbell dumb-bell dumb-bells interval HIT high-interval eccentric functional function balance coordination collegiate high-intensity short-term long-term range motion ROM tone firm firming toning tonning accuracy agility speed dynamic static weight-lifting weight-lift mitochondrial CREB cycle energy boost steroids roids testosterone ATP ADP AMP AMPK kinase VO2 V02 recreational recreation high school collegate college pro professional long slow distance Muscle Musculature Weightlift Pump Pumped Iron Athletics Games Playing Soccer Football Lacross Hockey Achilles Tendinopathy Aerobic performance Anterior Cruciate Ligament Rupture ACL Difficulty Losing Weight Elite Endurance Athletes Sprinter Sprint Endurence Athlete Endurances Exercise Aversion Benefits Blood Pressure systolic diastolic Lowering Cholesterol Lower Decrease Maximal Oxygen Uptake Response MOUR MOU Heartbeat Reduction Difficulty Pulse Joint Flexibility Lean Body Mass Streteches Sretches Streching Gym Gyms 24HourFitness Gold's 24-hour 24hour 24 hour Equinox Balley Baley Potential LPM Lower Exercise Benefits Heart Pump Function Muscle Cramping Cramps Cramp Damage Risk Response Resistance Training Soreness Sore 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Benefits Power Endurence Skin Cellulite Satiety Impairment Sensitivity Sun Skin Stretch Marks Slow Muscle Repair Sociability Starch Metabolism Sweet Tooth Sugar 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers Genos Veritas Verily HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray 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149 Silverberry Genomix Genomics SB SBG Silver Berry Longevity Long life Long-life 888 Nutrition Weight Management Care Skin Sensitivities Cognitive health memory brain dementia performance recall daily living ADLs ADL reserve plasticity neural neurons neural-plasticity cerebral cerebral-plasticity expectancy guide guidance instructions instruction balance health biology wellness life-time Achilles Tendinopathy Tendinitis Anterior Cruciate Ligament Rupture ACL Carb Overconsumption Carbohydrate Carbohydrates Carbos Consumption Consuming Collagen Breakdown Elasticity Wrinkles Wrinkle Difficulty Losing Weight Dryness Exercise Benefits Blood Pressure Diastolic Systolic BP Lowering Cholesterol Maximal Oxygen Uptake Response MOUR O2 Facial Pigmented Spots solar sunspots sun-spots spots Fat Overconsumption Joint Injury Risk Lean Body Mass Potential LBM Low Protein Intake Resting Metabolic Rate RMR Metabolism Vegetable Intake Veggies Low-carb Diet Effectiveness Low-fat Paleo Keto Keogenic Ketosis Atkins Mediterranean Diet Effectiveness Diets Dieting Memory Performance Misophonia Hearing Ears Hearingloss hearing-loss loss Motion Sickness Muscle Damage Soreness Strength Noise-induced hearing loss Overall Fitness Benefits Tendon Ligament Injury Overweight Potential Photoaging sunaging solaraging aging anti-aging antiaging slowaging slow-aging slowing age Resistance Stomach Flu norovirus Sagging Eyelids appearance vanity youthfulness Satiety Impairment Sensitivity Salt Slow Muscle Repair Stress Fracture mirror forever beauty beautiful attraction attractive hot sexy sex sensual viagra sildenafil cialis levitra skincare cognition brain-health brain mindfulness mind awareness aware think thinking allergens allergies gluten allergy allergen calf muscles smoking polyphenols polyphenol carotenoids carotenoid flavonoid flavonoids topical topicals agent agents retinoids retinoid retinol vitamin A vit-A vitaminA vitamin-A biofalvonoid bioflavonoids proanthocyanidins proanthocyanidin grape seed extract extracts polyphenols polyphenol resveratrol resveratrols green white teas tea soy phytoestrogens phytoestrogen chlorinated water chlorine alkaline H2O H20 alkaline-water alkalinewater acid acidic environmental bone broth bone-broth environment carcinogen carcinogens hazard hazards wrinkles imperfections imperfection blemish blemishes synthesis ultraviolet UV irritation exposure exposures MMP radical freeradicals free-radicals radicals premature pre-mature nature nurture nature-v-nurture nature-vs-nurture naturenurture vs versus balance balanced pyramid crystal crystals dance song happy glee gleeful spirited spirit long-term emotional emotion eating stress chronic stressors well-hydrated hydration elastic hydrated moisturizer moisturizers cream creams SPF sun protection factor protective golden years silver old oldage age Exfoliate Exfoliation Aquaporin water drink drinking inflammation AQP3 AQP glycerol urea plasma barrier permeability CLDN1 epidermis dermis epidermal dermal moving mowing lawn lawns vigorous moderate calf calves sodium salt coffee wheat bran sugar sugars 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes WGS WES Universal Compatible

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Data Viewer View Interpretation Interpret Analyze Analysis Explore Search Learn Viewing Searching Exploring Searching Learning Exploration X Y MT Mito Mitochondrial Chromosomal Chromosome Coordinates Positions Position Coordinate rsid NCBI rs# ClinVar Clinical Variation Amino Acid AA Change Interpretation Review Status SNPedia Phenotype Condition Trait Disease Medication Reaction PGx Pharmacogenomics Pharmacogenetics Medications 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers Genos Veritas Verily HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Genos Veritas Invitae Verly Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes NGS WGS WES Universal Compatible

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$9.99 <10 $10 10 9.99 9 EDGC Eone Diganomics GenomeCenter Genealogy Genealogic geographical origins origin where from history historical ancient ancint civilization civilizations civilisation civilisations Oregon Trail population populations pop mitochondrial mitochondria genealogical ancestry life lives living branches ancestrial ancestral heritage heritagedna familyhistory familyhx family neolithic caveman cave chedder cheddar cheddarman chedderman ancientdna ged gedmatch dnaland paleolithic neandertal neanderthal Denisovan link pebbles admixture analysis haplogroup haplogroups E1b1a E1b1b M230 P202 P204 H13 G2a U5a Q-M3 QM3 K1a1b1a K1a K1b K1c R1b H G2 Ia I2 J2 C E1b N1c I1 J1 H M U2 J U5 I W A2 T V K Asia SouthAmerca Oceania EastAsia Asian Caucasian White Black African Amercan French German Swiss Scandanavian Korean Japanese Chinese Malaysian Turkish Australian Italian Spanish Norwegian Norway Iceland Icelandic European Russian Russia Baltic Baltics Eastern Western Southern Northern Indian Native Hispanic Hispania Admix continents continental 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes WGS WES Universal Compatible

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19 Silverberry Genomix Genomics SB SBG Silver Berry Achilles Tendinopathy Tendinitis Anterior Cruciate Ligament Rupture ACL Tear Tearing Pain Painful Avoidance Prevention Prevent Avoid Joint Flexibility Joints Injury Risk Mitigation Mitigate Muscle Cramping Damage Risk Soreness Overall Tendon Ligament Injury Risk Slow Muscle Repair Stress Fracture Break Bone Compound Fractures Breaks Split Hurt Competition Competitor Compete recovery time discomfort ligaments tendons ligament tendon muscular vulnerabilities vulnerability cramp cramps sore soreness repair repairing exercise program coach train training coaching instruction instructor instructors coaches trainers trainor trainors trainer wamup warm-up prepare preparation Olympics Regionals Finals Events Sporting Ouch Booboo boo-boo crutches limp limping crutch medic sports 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes WGS WES Universal Compatible

159 Silverberry Genomix Genomics SB SBG Silver Berry Athletic Training Pro Professional Trainer Trainers Trainor Trainors Athletics Fitness Fit Exercise Exercising Sport Sports Player Players Game Team fitness competition competitions award win winner winning winners tiger loser lose olympic olympics regionals nationals finals semi-finals semifinals edge gain gains improvement advantage advantages stack testosterone steroids roids bulk bulkup bulking creatine creatinine hypertrophy muscle musculature rip ripped abs Achilles Tendinopathy Tendonitis Addictive Personality Addiction Aerobic performance Anaerobic Anger Response Trainability Anterior Cruciate Ligament Rupture ACL Bitter Taste Sensitivity Taster Tasting Carb Overconsumption Carbohydrate Carbohydrates Choline Deficiency Coenzyme Q10 Deficiency CoQ10 Co-Q10 Quinol Ubiquinol Creativity Difficulty Losing Weight Elite Endurance Athletes Sprint Sprinter Power Endurances Exercise Benefits Max Maximal Oxygen Uptake Response MOUR Experiential Learning Impairment Experimental Extraversion Introversion Intraversion Extroversion Extravert Intraver Introvert Extrovert Fat Overconsumption Glutathione Deficiency Grass Allergy Resistance Field Fields Track Court Playing Heartbeat Reduction Difficulty Histamine Intolerance Impulsivity Impulse Joint Flexibility Joint Injury Risk Leadership Potential Leader Lead Leading Lean Body Mass Potential LBM Low Protein Intake Top Best Low Vegetable Intake Muscle Cramping Veggies Muscle Damage Response Resistance Training Soreness Strength Loss Muscular Strength Optimism Optimistic Pessimism Pessimistic Overall Fitness Benefits Tendon and Ligament Injury Risk Power Sensitivity Sun Solar Skeletal Muscle Performance Smooth Slow Muscle Repair Stress Fracture Vitamin D Deficiency VitD VitaminD Vit-D Vitamin-D D3 Warrior Personality Worrier Personalities 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes WGS WES Universal Compatible

59 TBG Toolbox Genomics TBGx RunDNA Run Fitness Gym Athletic Training Workout Gyms Fit Marathon Sprint Ironman Competition Compete Competitions Endurance Performance elite VO2 ligament tendon injury injuries nutrient nutrients weight loss body composition optimal trial error insight insights nutrition supplements testing FTO ADRB2 COL5A1 ACE PPARA CKMM NRF2 PPARGC1A Food Carbohydrate Carbohydrates Recommendations Recommendation Wine Nuts Fluid Hydration Fluids AMPD1 Tips Psychological Psychology Factors Running 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers Genos Veritas Verily HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Genos Veritas Invitae Verly Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes NGS WGS WES Universal Compatible

49 Silverberry Genomix Genomics SB SBG Silver Berry Mood Attitude Profile Profiles School Curriculum Teacher Excel Improve Learn Grade Better Score Empathy Extraversion Extravert Introvert Introversion Addiction Addictive Addictions Agreeableness Anger Creativity Experiential Learning Empathy Impairment Exploratory Precocious Impulsivity Leader Leadership Winner Winning Win Tiger Mathematical Math Skills Memory Reading Season Seasons Seasonality Worrier Warrier Warrior Worry War Anxious Anxiety Valium Xanax anxiolytic anxiolytics Personality Personal Emotion Aptitude Emotions Emotional Learning Behavior Behaviors goal goals wunderlust wanderlust wonderlust travel morning night chronotype lark music reading education children child childhood kid kids study studious SAT GMAT MCAT standardized test testing tests Addictive Personality Agreeable Agreeableness Anger Happiness Awareness Mindful Mindfulness Happy Glad Sad Thoughtful Thoughtfulness Kindness Loving LovingKindness Response Creativity Empathy Experiential Learning Impairment Exploratory Behavior Extraversion Impulsivity Leadership Potential Mathematical Memory Performance Misophonia Morning Person Music Performance Aptitude Musical Creativity Optimism Read Reading Aptitude Season Seasonality Social Sociability Warrior Personality 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers Genos Veritas Verily HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes NGS WGS WES Universal Compatible

59 TBG Toolbox Genomics Thrive Weight loss Weightloss Weight Management Pounds Look Aeshtetics Aesthetic skinny minnie skinnie jeans Wellness science insights FTO Fat Fatso Phat Tubby Tub Lard Low LowFat Paleo Protein Diet Diets Keto Ketogenic Atkins Vegetarian Vegan UCP3 IRS1 TCF7L2 CLOCK sleep dreams dreaming sleeping zzz z's zs zz dietary sugar cholesterol carbohydrates plant plant-based fiber healthy fats vegetable vegetables oil oils beef cow moo whey bad good LDL LDL-C HDL HDL-C VLDL Triglyceride Triglycerides Lipid Lipids Mindful Mindfulness MC4R TAS2R38 taste bitter herb herbs prefer preference foods appetite appetites hunger melanocortin hormone hormones obesity obese obesity-related snacking snack snacks chips potato potatoes potatoe potatos starch unhealthy un-healthy snack-like nut nuts nutmeg pistachio almond amond almonds pistachios amonds cracker fries McDonalds McDonald's McDonald's Burger King BurgerKing Fast Food FastFood In-N-Out In-and-Out- Inandout Innout burgers Wendy's Denny's trash sugar sugaraddict suggar suger sugger lactose lactase sensitivity insensitivity milk changes engergy energized bloat bloated tired meabolize metabolize metabolizes metabolism stress lifestyle tips quality sleep sleeping mattress mattres imbalance imbalances stresses sressor stressor stressors stressers oral habit habits butternut squash seed seeds grain grains wheat whole barley rye chocolate wine beer alcohol herbal herb herbs tea teas coffee coffees drinking drink beverage water chamomile chai peppermint spearmint wintergreen purity pure purify purifying nature natural magnesium glycine rhodiola COMT CLA Conjugated Linoleic acid acids stain stains training glucose insulin leptin fast fasting cortisol AM salivary Action Plan Plans ToolboxGenomics Tool Box Genome Genomic Obestiy Obesity Stress Weightloss Sleep SNPs SNP Food Foods Supplements Supplementation Recommendation Recommendations Guidance Guide Report PDF Energy Optimize Optimization Perfrection Best Perfect Amazing Awesome Great Top fiber muscle body bulk bulking building Integrative Sun Sunlight Sugar sugarcontrol diabetes Oral Dairy Cow Cows Moo Avacado Garbanzo Bean Beans Favae Silence Lambs Asparagus Lentils peas leafy green greens taste deficiency deficiency metabolism vitamin vitamins mineral minerals Magnesium P5P Ascorbic Acid VitaminC Probiotic Probiotics Selenium IU Vitamin Test Testing Tips proven traits genes published research studis studies science scientists lifestyle life Nutrition Weight Loss Diet 23andMe 23 23me 23&me 23nme Ancestry Ancestry.com AncestryDNA Dante Labs MyHeritage MyHeritageDNA Living Living DNA Vitagene Helix 24Genetics FamilyTreeDNA FTDNA FamilyTree TreeDNA DNA.Land DNALand HomeDNA Genotek DNAgenotek DTC Silverberry SilverberryGenomics SilverberryGenomix Genomix Illumina Roche Macrogen WuXi Nextcode Prenetics Novogene GeneDx Ambry AmbryGenetics AmbryGenomics AmbryGenome Fulgent LabCorp Quest Genentech Google Glaxo GSK GoodStart GoodStartGenetics Veritas Veritas Genetics Provider Providers HLI HumanLongevity HumanLongevityInc Grail BGI GenomicsEngland Diagnomics Garvan GarvanInstitute Hudson HudsonAlpha Affymetrix TMO Thermo ThermoFisher GPH GenomicsPersonalizedHealth 3billion Arivale sequenced NatGeo Genographic Color Counsyl Myriad FullGenomes Pathway PathwayGenomics microarray beadarray genechip dnachip chip array assay testing DNAtest genetictest genometest test besttest exome sequencing whole genome genomes WGS WES Universal Compatible