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Boli A-Z 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy Adenoiditis Aging Al-Gazali-Bakalinova Syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Alport Syndrome, X-Linked Al-Raqad Syndrome Aneurysm Angiokeratoma Aniridia 1 Anorexia Nervosa 1 Arteries, Anomalies of Arthritis Arthrochalasia Ehlers-Danlos Syndrome Aspartylglucosaminuria Ataxia and Polyneuropathy, Adult-Onset Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Attention Deficit-Hyperactivity Disorder Autism Autism Spectrum Disorder Ayme-Gripp Syndrome Blood Group--Ahonen Blood Group, I System Carpal Tunnel Syndrome Cartilage Disease Cataract Cat Eye Syndrome Central Nervous System Disease Cerebritis Cervicitis Cholestasis Chorea, Childhood-Onset, with Psychomotor Retardation Choreatic Disease Cleft Larynx, Posterior Cohen-Gibson Syndrome Craniosynostosis Cutis Laxa, Autosomal Recessive, Type Iiia Dementia Diarrhea Dilated Cardiomyopathy Dwarfism Dysostosis Empty Sella Syndrome Endocardial Fibroelastosis Endocarditis Endotheliitis Entropion Fabry Disease Factor Vii Deficiency Fucosidosis Gangliosidosis Gm1 Gastric Dilatation Geleophysic Dwarfism Geleophysic Dysplasia 1 Geleophysic Dysplasia 2 Hematopoietic Stem Cell Transplantation Hemihyperplasia, Isolated Hemophilia Hemophilia a Hepatic Adenomas, Familial Hepatitis Horns in Sheep Hurler-Scheie Syndrome Hurler Syndrome Hydrocephalus Hydronephrosis Hydrops Fetalis Hydrops Fetalis, Nonimmune Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis Vulgaris Immune Hydrops Fetalis Immunoglobulin E Concentration, Serum Isovaleric Acidemia Kluver-Bucy Syndrome Leukemia Leukodystrophy Lysosomal Storage Disease Mannosidosis Mannosidosis, Alpha B, Lysosomal Mccallum Macadam Johnston Syndrome Mediastinitis Metachromatic Leukodystrophy Mongolian Spot Mononeuropathy of the Median Nerve, Mild Morquio Syndrome Mucolipidoses Mucolipidosis Ii Alpha/beta Mucolipidosis Iii Alpha/beta Mucolipidosis Iv Mucopolysaccharidoses Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb Mucopolysaccharidosis, Type Ix Mucopolysaccharidosis Type Vi Mucopolysaccharidosis, Type Vii Multiple Sulfatase Deficiency Nervous System Disease Neuroblastoma Neuronal Ceroid-Lipofuscinoses Neuronitis Nodular Regenerative Hyperplasia Osteoarthritis Osteoarthritis with Mild Chondrodysplasia Otitis Media Pancreatitis Papilledema Periodontitis Portal Hypertension Precocious Puberty Retinal Degeneration Retinitis Retinitis Pigmentosa Rickets Sandhoff Disease Scheie Syndrome Sensorineural Hearing Loss Skeletal Dysplasias Sleep Disorder Spinal Stenosis Status Epilepticus Syringomyelia Three M Syndrome 1 Thrombasthenia Tracheomalacia