- Local Unique Identifier
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0000138
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Children
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diseaseclass:0000000 46,XX Sex Reversaldiseaseclass:0000002 17-Hydroxysteroid Dehydrogenase Deficiencydiseaseclass:0000004 3-Methylglutaconic Aciduriadiseaseclass:0000011 Adrenal Hypoplasiadiseaseclass:0000017 Alopecia-Mental Retardation Syndromediseaseclass:0000046 Atypical Mycobacteriosis, Familialdiseaseclass:0000054 Bare Lymphocyte Syndromediseaseclass:0000057 Bleeding Disorder, Platelet-Typediseaseclass:0000074 Cerebral Cavernous Malformationsdiseaseclass:0000076 Cerebrooculofacioskeletal Syndromediseaseclass:0000080 Chondrodysplasiadiseaseclass:0000083 Choreoathetosisdiseaseclass:0000084 Choroidal Dystrophydiseaseclass:0000085 Chromosome Deletion Syndromediseaseclass:0000090 Colorblindness, Partialdiseaseclass:0000112 Dent Diseasediseaseclass:0000117 Diabetes Mellitus, Transient Neonataldiseaseclass:0000127 Myotonic Dystrophydiseaseclass:0000128 Ectodermal Dysplasiadiseaseclass:0000131 Short-Rib Thoracic Dysplasiadiseaseclass:0000133 Enuresis, Nocturnaldiseaseclass:0000134 Liver Failure, Infantilediseaseclass:0000146 Familial Cold Autoinflammatory Syndromediseaseclass:0000149 Epilepsy, Absencediseaseclass:0000151 Epilepsy, Hot Waterdiseaseclass:0000153 Corticosterone Methyloxidase Deficiencydiseaseclass:0000154 Epilepsy, Nocturnal Frontal Lobediseaseclass:0000158 Fatty Liver Disease, Nonalcoholicdiseaseclass:0000159 Febrile Seizures, Familialdiseaseclass:0000162 Gingival Fibromatosisdiseaseclass:0000163 Fibrosis Of Extraocular Muscles, Congenitaldiseaseclass:0000166 Frontonasal Dysplasiadiseaseclass:0000174 Glomerulopathy with Fibronectin Depositsdiseaseclass:0000175 Glucocorticoid Deficiencydiseaseclass:0000181 Hemolytic Anemia, Nonspherocyticdiseaseclass:0000184 Herpes Simplex Encephalitis, Susceptibilitydiseaseclass:0000192 Hyper-IgE Recurrent Infection Syndromediseaseclass:0000194 Hypercalciuria, Absorptivediseaseclass:0000202 Hyperphenylalaninemia, BH4-Deficientdiseaseclass:0000203 Hyperphosphatasia with Mental Retardation Syndromediseaseclass:0000204 Hyperprolinemiadiseaseclass:0000209 Hypocalciuric Hypercalcemiadiseaseclass:0000212 Hypomagnesemiadiseaseclass:0000217 Hypothyroidism, Congenital, Nongoitrousdiseaseclass:0000219 Hypouricemia, Renaldiseaseclass:0000222 Immunodeficiency with Hyper-IgMdiseaseclass:0000223 Immunoglobulin A Deficiencydiseaseclass:0000227 Invasive Pneumococcal Disease, Recurrent Isolateddiseaseclass:0000228 Iridogoniodysgenesisdiseaseclass:0000229 Isolated Growth Hormone Deficiencydiseaseclass:0000230 Jervell and Lange-Nielsen Syndromediseaseclass:0000234 Keratoderma, Palmoplantar Striatediseaseclass:0000237 Left Ventricular Noncompactiondiseaseclass:0000240 Leprosy, Susceptibility todiseaseclass:0000241 Lethal Congenital Contractural Syndromediseaseclass:0000245 Leukodystrophy, Hypomyelinatingdiseaseclass:0000259 Lymphoproliferative Syndromediseaseclass:0000261 Macroglobulinemia, Waldenstromdiseaseclass:0000263 Macular Dystrophydiseaseclass:0000264 Major Affective Disorderdiseaseclass:0000265 Malaria Susceptibilitydiseaseclass:0000267 Mandibuloacral Dysplasia with Lipodystrophydiseaseclass:0000268 Medullary Cystic Kidney Diseasediseaseclass:0000274 Methylmalonic Aciduria and Homocystinuriadiseaseclass:0000276 Microcephalic Osteodysplastic Primordial Dwarfismdiseaseclass:0000277 Microcephaly, Primary, Autosomal Recessivediseaseclass:0000278 Microphthalmia, Isolateddiseaseclass:0000279 Molybdenum Cofactor Deficiencydiseaseclass:0000280 Microphthalmia, Syndromicdiseaseclass:0000281 Microvascular Complications of Diabetes, Susceptibilitydiseaseclass:0000283 Mitochondrial Complex Deficiencydiseaseclass:0000284 Mitochondrial DNA Depletion Syndromediseaseclass:0000291 Multiple Endocrine Neoplasiadiseaseclass:0000292 Multiple Pterygium Syndromediseaseclass:0000297 Myasthenic Syndromediseaseclass:0000298 Mycobacterium Tuberculosis, Susceptibilitydiseaseclass:0000299 Myocardial Infarction, Susceptibilitydiseaseclass:0000302 Myopathy, Congenitaldiseaseclass:0000304 Myopathy, Lactic Acidosis, and Sideroblastic Anemiadiseaseclass:0000305 Myopathy, Myofibrillardiseaseclass:0000306 Myopathy, Reducing Body, X-Linkeddiseaseclass:0000308 Myopathy, Inclusion Bodydiseaseclass:0000310 Nail Disorder, Nonsyndromic Congenitaldiseaseclass:0000318 Neural Tube Defectsdiseaseclass:0000320 Neurodegeneration with Brain Iron Accumulationdiseaseclass:0000322 Neuronopathy, Distal Hereditary Motordiseaseclass:0000328 Nystagmusdiseaseclass:0000331 Acrocephalopolysyndactylydiseaseclass:0000341 Nephrolithiasis/Osteoporosis, Hypophosphatemicdiseaseclass:0000342 Oto-Palato-Digital Syndromediseaseclass:0000345 Ovarian Dysgenesisdiseaseclass:0000354 Pelvic Organ Prolapsediseaseclass:0000356 Griscelli Syndromediseaseclass:0000358 Pituitary Hormone Deficiency, Combineddiseaseclass:0000362 Polydactyly, Preaxialdiseaseclass:0000363 Polymicrogyriadiseaseclass:0000367 Precocious Pubertydiseaseclass:0000371 Age-Related Hearing Impairmentdiseaseclass:0000373 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletionsdiseaseclass:0000374 Progressive Familial Heart Blockdiseaseclass:0000381 Pyloric Stenosis, Infantilediseaseclass:0000398 Schistosoma mansoni Infection, Susceptibilitydiseaseclass:0000409 Spastic Ataxiadiseaseclass:0000416 Split-Hand/Foot Malformationdiseaseclass:0000431 Testicular Germ Cell Tumordiseaseclass:0000436 Thyroid Dyshormonogenesisdiseaseclass:0000438 Thyrotoxic Periodic Paralysisdiseaseclass:0000442 Trichoepithelioma, Multiple Familialdiseaseclass:0000443 Trichorhinophalangeal Syndromediseaseclass:0000445 Tumoral Calcinosisdiseaseclass:0000452 Vertigodiseaseclass:0000457 Wilms Tumordiseaseclass:0000463 Acrofacial Dysostosisdiseaseclass:0000465 Acrorenal Syndromediseaseclass:0000469 Anemia, Hypochromic Microcytic with Iron Overloaddiseaseclass:0000475 Auriculocondylar Syndromediseaseclass:0000476 Bacteremia, Susceptibilitydiseaseclass:0000479 Bifid Nosediseaseclass:0000486 Camptodactyly Syndrome, Guadalajaradiseaseclass:0000488 Cardioencephalomyopathy, Fatal Infantilediseaseclass:0000490 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndromediseaseclass:0000491 Cerebelloparenchymal Disorderdiseaseclass:0000492 Chiari Malformationdiseaseclass:0000493 Chilblain Lupusdiseaseclass:0000495 Chromosome Duplication Syndromediseaseclass:0000498 Cortical Dysplasia, Complex, with Other Brain Malformationsdiseaseclass:0000503 Diarrhea, Congenitaldiseaseclass:0000504 Reticulate Pigment Disorderdiseaseclass:0000506 Congenital Heart Defects, Multiple Typesdiseaseclass:0000511 Ectopia Lentis, Isolateddiseaseclass:0000512 Emphysemadiseaseclass:0000516 Facial Paresis, Hereditary Congenitaldiseaseclass:0000517 Factor V and Factor VIII, Combined Deficiency ofdiseaseclass:0000519 Fibrochondrogenesisdiseaseclass:0000521 Focal Facial Dermal Dysplasiadiseaseclass:0000522 Fundus Dystrophy, Pseudoinflammatorydiseaseclass:0000523 Gastric Cancerdiseaseclass:0000524 Geleophysic Dysplasiadiseaseclass:0000525 Giant Axonal Neuropathydiseaseclass:0000526 Glutaric Aciduriadiseaseclass:0000527 Heart-Hand Syndromediseaseclass:0000532 Humeroradial Synostosisdiseaseclass:0000536 Hypercarotenemia And Vitamin A Deficiencydiseaseclass:0000537 Hyperekplexiadiseaseclass:0000540 Hyperpigmentation, Familial Progressivediseaseclass:0000541 Hypocalcemiadiseaseclass:0000544 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndromediseaseclass:0000547 Kabuki Syndromediseaseclass:0000548 Kala-Azar, Susceptibilitydiseaseclass:0000549 Kenny-Caffey Syndromediseaseclass:0000550 Keratosis Follicularis Spinulosa Decalvansdiseaseclass:0000556 Leukoencephalopathy, Megalencephalicdiseaseclass:0000558 Metaphyseal Chondrodysplasiadiseaseclass:0000563 Mirror Movementsdiseaseclass:0000564 Mosaic Variegated Aneuploidy Syndromediseaseclass:0000565 Multiple Congenital Anomalies-Hypotonia-Seizures Syndromediseaseclass:0000566 Multiple Mitochondrial Dysfunctions Syndromediseaseclass:0000567 Myofibromatosis, Infantilediseaseclass:0000568 Myoglobinuriadiseaseclass:0000572 Omphalocelediseaseclass:0000580 Pregnancy Loss, Recurrent, Susceptibilitydiseaseclass:0000581 Premature Aging Syndromediseaseclass:0000583 Progeroid Syndromediseaseclass:0000587 Polyposisdiseaseclass:0000590 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Relateddiseaseclass:0000592 Retinopathydiseaseclass:0000598 Spondylometaphyseal Dysplasiadiseaseclass:0000600 Thiamine-Responsive Dysfunction Syndromediseaseclass:0000602 Transposition of the Great Arteriesdiseaseclass:0000604 Trichohepatoenteric Syndromediseaseclass:0000605 Triglyceride Storage Diseasediseaseclass:0000606 Trigonocephalydiseaseclass:0000615 Immunodeficiencydiseaseclass:0000616 Episodic Pain Syndrome, Familialdiseaseclass:0000618 Developmental Dysplasia of the Hipdiseaseclass:0000621 Bone Marrow Failure Syndromediseaseclass:0000623 Desbuquois Dysplasiadiseaseclass:0000624 Epilepsy, Familial Adult Myoclonicdiseaseclass:0000632 Autoimmune Disease, Susceptibility todiseaseclass:0000634 Autoimmune Thyroid Disease, Susceptibility todiseaseclass:0000644 Corneal Dystrophy, Posterior Polymorphousdiseaseclass:0000645 Ectodermal Dysplasia-Syndactyly Syndromediseaseclass:0000646 Encephalopathy, Acute, Infection-Induceddiseaseclass:0000649 Huntington Disease-Likediseaseclass:0000652 Ichthyosis, Congenital, Autosomal Recessivediseaseclass:0000653 Keratoderma, Palmoplantar Punctatediseaseclass:0000657 Microphthalmia, Isolated, with Cataractdiseaseclass:0000658 Microphthalmia, Isolated, with Colobomadiseaseclass:0000659 Muscular Dystrophy-Dystroglycanopathy, Type Adiseaseclass:0000660 Muscular Dystrophy-Dystroglycanopathy, Type Bdiseaseclass:0000661 Muscular Dystrophy-Dystroglycanopathy, Type Cdiseaseclass:0000663 Split-Hand/Foot Malformation with Long Bone Deficiencydiseaseclass:0000665 Ventricular Tachycardia, Catecholaminergic Polymorphicdiseaseclass:0000667 Myopathy, Tubular Aggregatediseaseclass:0000668 Ataxia-Telangiectasia-Like Disorderdiseaseclass:0000669 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndromediseaseclass:0000670 Laryngeal Abductor Paralysisdiseaseclass:0000671 Breasts and/or Nipples, Aplasia or Hypoplasia ofdiseaseclass:0000672 Neu-Laxova Syndromediseaseclass:0000674 Inflammatory Skin and Bowel Disease, Neonataldiseaseclass:0000676 Microcephaly and Chorioretinopathy