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Boli A-Z Aceruloplasminemia Aging Alacrima, Achalasia, and Mental Retardation Syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alport Syndrome, X-Linked Al-Raqad Syndrome Androgen Insensitivity Syndrome, Mild Aniridia 1 Anorexia Nervosa 1 Apraxia Arima Syndrome Arthrochalasia Ehlers-Danlos Syndrome Asphyxiating Thoracic Dystrophy Ataxia and Polyneuropathy, Adult-Onset Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia-Oculomotor Apraxia 3 Autism Bardet-Biedl Syndrome Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 15 Bilateral Polymicrogyria Blood Group--Ahonen Blood Group, I System Body Mass Index Quantitative Trait Locus 10 Body Mass Index Quantitative Trait Locus 11 Body Mass Index Quantitative Trait Locus 12 Body Mass Index Quantitative Trait Locus 14 Body Mass Index Quantitative Trait Locus 18 Body Mass Index Quantitative Trait Locus 4 Body Mass Index Quantitative Trait Locus 7 Body Mass Index Quantitative Trait Locus 8 Body Mass Index Quantitative Trait Locus 9 Burkitt Lymphoma Central Sleep Apnea Cerebellar Atrophy, Developmental Delay, and Seizures Cerebral Palsy Cerebritis Chorioretinitis Chromosomal Triplication Ciliopathy Cleft Lip Coach Syndrome Cone-Rod Dystrophy 2 Congenital Hepatic Fibrosis Corpus Callosum, Agenesis of, with Abnormal Genitalia Cranial Meningocele Cystic Kidney Disease Dandy-Walker Syndrome Ellis-Van Creveld Syndrome Encephalocele Encephalopathy Fanconi Anemia, Complementation Group E Fundus Dystrophy Growth Hormone Deficiency Hepatitis Hereditary Retinal Dystrophy Hydrocephalus Hydrolethalus Syndrome 1 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hypotonia Joubert Syndrome 17 Joubert Syndrome 2 Joubert Syndrome 23 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy Joubert Syndrome with Ocular Anomalies Joubert Syndrome with Oculorenal Anomalies Joubert Syndrome with Renal Anomalies Leber Congenital Amaurosis Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 5 Lipoid Proteinosis of Urbach and Wiethe Lissencephaly Lymphoid Interstitial Pneumonia Lymphoma Meckel Syndrome, Type 1 Meckel Syndrome, Type 3 Meningocele Nephronophthisis Nephronophthisis 1 Nephronophthisis 16 Nephronophthisis 2 Nephronophthisis 4 Neurofibromatosis, Type Iv, of Riccardi Neuroleptic Malignant Syndrome Neuronitis Occipital Encephalocele Ocular Motor Apraxia Orofaciodigital Syndrome Orofaciodigital Syndrome I Orofaciodigital Syndrome Vi Osteofibrous Dysplasia Pallister-Hall Syndrome Papilledema Polycystic Kidney Disease Polycystic Kidney Disease 5 Polydactyly Polymicrogyria Portal Hypertension Ptosis Renal-Hepatic-Pancreatic Dysplasia Retinal Degeneration Retinal Detachment Retinitis Retinitis Pigmentosa 2 Retinitis Pigmentosa 3 Retinitis Pigmentosa 66 Senior-Løken Syndrome Senior-Loken Syndrome 1 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly Sleep Apnea Smith-Magenis Syndrome Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 29 Spondyloocular Syndrome Tetraamelia Syndrome, Autosomal Recessive Trichohepatoenteric Syndrome 1