- Local Unique Identifier
-
0000138
-
Children
-
diseaseclass:0000000
46,XX Sex Reversal
diseaseclass:0000002
17-Hydroxysteroid Dehydrogenase Deficiency
diseaseclass:0000004
3-Methylglutaconic Aciduria
diseaseclass:0000011
Adrenal Hypoplasia
diseaseclass:0000017
Alopecia-Mental Retardation Syndrome
diseaseclass:0000046
Atypical Mycobacteriosis, Familial
diseaseclass:0000054
Bare Lymphocyte Syndrome
diseaseclass:0000057
Bleeding Disorder, Platelet-Type
diseaseclass:0000074
Cerebral Cavernous Malformations
diseaseclass:0000076
Cerebrooculofacioskeletal Syndrome
diseaseclass:0000080
Chondrodysplasia
diseaseclass:0000083
Choreoathetosis
diseaseclass:0000084
Choroidal Dystrophy
diseaseclass:0000085
Chromosome Deletion Syndrome
diseaseclass:0000090
Colorblindness, Partial
diseaseclass:0000112
Dent Disease
diseaseclass:0000117
Diabetes Mellitus, Transient Neonatal
diseaseclass:0000127
Myotonic Dystrophy
diseaseclass:0000128
Ectodermal Dysplasia
diseaseclass:0000131
Short-Rib Thoracic Dysplasia
diseaseclass:0000133
Enuresis, Nocturnal
diseaseclass:0000134
Liver Failure, Infantile
diseaseclass:0000146
Familial Cold Autoinflammatory Syndrome
diseaseclass:0000149
Epilepsy, Absence
diseaseclass:0000151
Epilepsy, Hot Water
diseaseclass:0000153
Corticosterone Methyloxidase Deficiency
diseaseclass:0000154
Epilepsy, Nocturnal Frontal Lobe
diseaseclass:0000158
Fatty Liver Disease, Nonalcoholic
diseaseclass:0000159
Febrile Seizures, Familial
diseaseclass:0000162
Gingival Fibromatosis
diseaseclass:0000163
Fibrosis Of Extraocular Muscles, Congenital
diseaseclass:0000166
Frontonasal Dysplasia
diseaseclass:0000174
Glomerulopathy with Fibronectin Deposits
diseaseclass:0000175
Glucocorticoid Deficiency
diseaseclass:0000181
Hemolytic Anemia, Nonspherocytic
diseaseclass:0000184
Herpes Simplex Encephalitis, Susceptibility
diseaseclass:0000192
Hyper-IgE Recurrent Infection Syndrome
diseaseclass:0000194
Hypercalciuria, Absorptive
diseaseclass:0000202
Hyperphenylalaninemia, BH4-Deficient
diseaseclass:0000203
Hyperphosphatasia with Mental Retardation Syndrome
diseaseclass:0000204
Hyperprolinemia
diseaseclass:0000209
Hypocalciuric Hypercalcemia
diseaseclass:0000212
Hypomagnesemia
diseaseclass:0000217
Hypothyroidism, Congenital, Nongoitrous
diseaseclass:0000219
Hypouricemia, Renal
diseaseclass:0000222
Immunodeficiency with Hyper-IgM
diseaseclass:0000223
Immunoglobulin A Deficiency
diseaseclass:0000227
Invasive Pneumococcal Disease, Recurrent Isolated
diseaseclass:0000228
Iridogoniodysgenesis
diseaseclass:0000229
Isolated Growth Hormone Deficiency
diseaseclass:0000230
Jervell and Lange-Nielsen Syndrome
diseaseclass:0000234
Keratoderma, Palmoplantar Striate
diseaseclass:0000237
Left Ventricular Noncompaction
diseaseclass:0000240
Leprosy, Susceptibility to
diseaseclass:0000241
Lethal Congenital Contractural Syndrome
diseaseclass:0000245
Leukodystrophy, Hypomyelinating
diseaseclass:0000259
Lymphoproliferative Syndrome
diseaseclass:0000261
Macroglobulinemia, Waldenstrom
diseaseclass:0000263
Macular Dystrophy
diseaseclass:0000264
Major Affective Disorder
diseaseclass:0000265
Malaria Susceptibility
diseaseclass:0000267
Mandibuloacral Dysplasia with Lipodystrophy
diseaseclass:0000268
Medullary Cystic Kidney Disease
diseaseclass:0000274
Methylmalonic Aciduria and Homocystinuria
diseaseclass:0000276
Microcephalic Osteodysplastic Primordial Dwarfism
diseaseclass:0000277
Microcephaly, Primary, Autosomal Recessive
diseaseclass:0000278
Microphthalmia, Isolated
diseaseclass:0000279
Molybdenum Cofactor Deficiency
diseaseclass:0000280
Microphthalmia, Syndromic
diseaseclass:0000281
Microvascular Complications of Diabetes, Susceptibility
diseaseclass:0000283
Mitochondrial Complex Deficiency
diseaseclass:0000284
Mitochondrial DNA Depletion Syndrome
diseaseclass:0000291
Multiple Endocrine Neoplasia
diseaseclass:0000292
Multiple Pterygium Syndrome
diseaseclass:0000297
Myasthenic Syndrome
diseaseclass:0000298
Mycobacterium Tuberculosis, Susceptibility
diseaseclass:0000299
Myocardial Infarction, Susceptibility
diseaseclass:0000302
Myopathy, Congenital
diseaseclass:0000304
Myopathy, Lactic Acidosis, and Sideroblastic Anemia
diseaseclass:0000305
Myopathy, Myofibrillar
diseaseclass:0000306
Myopathy, Reducing Body, X-Linked
diseaseclass:0000308
Myopathy, Inclusion Body
diseaseclass:0000310
Nail Disorder, Nonsyndromic Congenital
diseaseclass:0000318
Neural Tube Defects
diseaseclass:0000320
Neurodegeneration with Brain Iron Accumulation
diseaseclass:0000322
Neuronopathy, Distal Hereditary Motor
diseaseclass:0000328
Nystagmus
diseaseclass:0000331
Acrocephalopolysyndactyly
diseaseclass:0000341
Nephrolithiasis/Osteoporosis, Hypophosphatemic
diseaseclass:0000342
Oto-Palato-Digital Syndrome
diseaseclass:0000345
Ovarian Dysgenesis
diseaseclass:0000354
Pelvic Organ Prolapse
diseaseclass:0000356
Griscelli Syndrome
diseaseclass:0000358
Pituitary Hormone Deficiency, Combined
diseaseclass:0000362
Polydactyly, Preaxial
diseaseclass:0000363
Polymicrogyria
diseaseclass:0000367
Precocious Puberty
diseaseclass:0000371
Age-Related Hearing Impairment
diseaseclass:0000373
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
diseaseclass:0000374
Progressive Familial Heart Block
diseaseclass:0000381
Pyloric Stenosis, Infantile
diseaseclass:0000398
Schistosoma mansoni Infection, Susceptibility
diseaseclass:0000409
Spastic Ataxia
diseaseclass:0000416
Split-Hand/Foot Malformation
diseaseclass:0000431
Testicular Germ Cell Tumor
diseaseclass:0000436
Thyroid Dyshormonogenesis
diseaseclass:0000438
Thyrotoxic Periodic Paralysis
diseaseclass:0000442
Trichoepithelioma, Multiple Familial
diseaseclass:0000443
Trichorhinophalangeal Syndrome
diseaseclass:0000445
Tumoral Calcinosis
diseaseclass:0000452
Vertigo
diseaseclass:0000457
Wilms Tumor
diseaseclass:0000463
Acrofacial Dysostosis
diseaseclass:0000465
Acrorenal Syndrome
diseaseclass:0000469
Anemia, Hypochromic Microcytic with Iron Overload
diseaseclass:0000475
Auriculocondylar Syndrome
diseaseclass:0000476
Bacteremia, Susceptibility
diseaseclass:0000479
Bifid Nose
diseaseclass:0000486
Camptodactyly Syndrome, Guadalajara
diseaseclass:0000488
Cardioencephalomyopathy, Fatal Infantile
diseaseclass:0000490
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome
diseaseclass:0000491
Cerebelloparenchymal Disorder
diseaseclass:0000492
Chiari Malformation
diseaseclass:0000493
Chilblain Lupus
diseaseclass:0000495
Chromosome Duplication Syndrome
diseaseclass:0000498
Cortical Dysplasia, Complex, with Other Brain Malformations
diseaseclass:0000503
Diarrhea, Congenital
diseaseclass:0000504
Reticulate Pigment Disorder
diseaseclass:0000506
Congenital Heart Defects, Multiple Types
diseaseclass:0000511
Ectopia Lentis, Isolated
diseaseclass:0000512
Emphysema
diseaseclass:0000516
Facial Paresis, Hereditary Congenital
diseaseclass:0000517
Factor V and Factor VIII, Combined Deficiency of
diseaseclass:0000519
Fibrochondrogenesis
diseaseclass:0000521
Focal Facial Dermal Dysplasia
diseaseclass:0000522
Fundus Dystrophy, Pseudoinflammatory
diseaseclass:0000523
Gastric Cancer
diseaseclass:0000524
Geleophysic Dysplasia
diseaseclass:0000525
Giant Axonal Neuropathy
diseaseclass:0000526
Glutaric Aciduria
diseaseclass:0000527
Heart-Hand Syndrome
diseaseclass:0000532
Humeroradial Synostosis
diseaseclass:0000536
Hypercarotenemia And Vitamin A Deficiency
diseaseclass:0000537
Hyperekplexia
diseaseclass:0000540
Hyperpigmentation, Familial Progressive
diseaseclass:0000541
Hypocalcemia
diseaseclass:0000544
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
diseaseclass:0000547
Kabuki Syndrome
diseaseclass:0000548
Kala-Azar, Susceptibility
diseaseclass:0000549
Kenny-Caffey Syndrome
diseaseclass:0000550
Keratosis Follicularis Spinulosa Decalvans
diseaseclass:0000556
Leukoencephalopathy, Megalencephalic
diseaseclass:0000558
Metaphyseal Chondrodysplasia
diseaseclass:0000563
Mirror Movements
diseaseclass:0000564
Mosaic Variegated Aneuploidy Syndrome
diseaseclass:0000565
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
diseaseclass:0000566
Multiple Mitochondrial Dysfunctions Syndrome
diseaseclass:0000567
Myofibromatosis, Infantile
diseaseclass:0000568
Myoglobinuria
diseaseclass:0000572
Omphalocele
diseaseclass:0000580
Pregnancy Loss, Recurrent, Susceptibility
diseaseclass:0000581
Premature Aging Syndrome
diseaseclass:0000583
Progeroid Syndrome
diseaseclass:0000587
Polyposis
diseaseclass:0000590
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related
diseaseclass:0000592
Retinopathy
diseaseclass:0000598
Spondylometaphyseal Dysplasia
diseaseclass:0000600
Thiamine-Responsive Dysfunction Syndrome
diseaseclass:0000602
Transposition of the Great Arteries
diseaseclass:0000604
Trichohepatoenteric Syndrome
diseaseclass:0000605
Triglyceride Storage Disease
diseaseclass:0000606
Trigonocephaly
diseaseclass:0000615
Immunodeficiency
diseaseclass:0000616
Episodic Pain Syndrome, Familial
diseaseclass:0000618
Developmental Dysplasia of the Hip
diseaseclass:0000621
Bone Marrow Failure Syndrome
diseaseclass:0000623
Desbuquois Dysplasia
diseaseclass:0000624
Epilepsy, Familial Adult Myoclonic
diseaseclass:0000632
Autoimmune Disease, Susceptibility to
diseaseclass:0000634
Autoimmune Thyroid Disease, Susceptibility to
diseaseclass:0000644
Corneal Dystrophy, Posterior Polymorphous
diseaseclass:0000645
Ectodermal Dysplasia-Syndactyly Syndrome
diseaseclass:0000646
Encephalopathy, Acute, Infection-Induced
diseaseclass:0000649
Huntington Disease-Like
diseaseclass:0000652
Ichthyosis, Congenital, Autosomal Recessive
diseaseclass:0000653
Keratoderma, Palmoplantar Punctate
diseaseclass:0000657
Microphthalmia, Isolated, with Cataract
diseaseclass:0000658
Microphthalmia, Isolated, with Coloboma
diseaseclass:0000659
Muscular Dystrophy-Dystroglycanopathy, Type A
diseaseclass:0000660
Muscular Dystrophy-Dystroglycanopathy, Type B
diseaseclass:0000661
Muscular Dystrophy-Dystroglycanopathy, Type C
diseaseclass:0000663
Split-Hand/Foot Malformation with Long Bone Deficiency
diseaseclass:0000665
Ventricular Tachycardia, Catecholaminergic Polymorphic
diseaseclass:0000667
Myopathy, Tubular Aggregate
diseaseclass:0000668
Ataxia-Telangiectasia-Like Disorder
diseaseclass:0000669
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
diseaseclass:0000670
Laryngeal Abductor Paralysis
diseaseclass:0000671
Breasts and/or Nipples, Aplasia or Hypoplasia of
diseaseclass:0000672
Neu-Laxova Syndrome
diseaseclass:0000674
Inflammatory Skin and Bowel Disease, Neonatal
diseaseclass:0000676
Microcephaly and Chorioretinopathy