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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 \u0026 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 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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 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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 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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 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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 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