Visualization of QSAR

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22q13.3 Deletion Syndrome 3-Methylglutaconic aciduria type 2 3-Methylglutaconic aciduria type 3 Acheiropodia Achondrogenesis type 1A Achondrogenesis, type IB (disorder) Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Achromatopsia Acrocallosal Syndrome Acrocephalopolysyndactyly type 2 Acrocephalosyndactylia Acrodermatitis enteropathica ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE Acromicric Dysplasia ACTH Deficiency, Isolated Action Myoclonus-Renal Failure Syndrome Adenine phosphoribosyltransferase deficiency ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Adrenoleukodystrophy Adult junctional epidermolysis bullosa (disorder) Adult Neuronal Ceroid Lipofuscinosis ADULT SYNDROME ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 AICARDI-GOUTIERES SYNDROME Albinism, Oculocutaneous Alexander Disease Allan-Herndon-Dudley syndrome (AHDS) Allanson Pantzar McLeod syndrome Alpha-B Crystallinopathy Alpha-Methylacyl-CoA Racemase Deficiency alpha-Thalassemia ALPORT SYNDROME 1, X-LINKED ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE Alstrom Syndrome Amaurosis congenita of Leber, type 1 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) Amyotrophic Lateral Sclerosis Androgen-Insensitivity Syndrome Angelman Syndrome ANOPHTHALMIA AND PULMONARY HYPOPLASIA Antithrombin III Deficiency Apert syndrome Aplastic Anemia Apparent mineralocorticoid excess Argininosuccinic Aciduria Aromatase deficiency AROMATASE EXCESS SYNDROME ARTHROGRYPOSIS, DISTAL, TYPE 2B Asphyxiating Thoracic Dystrophy 2 Ataxia Telangiectasia Atelosteogenesis, type 1 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Autosomal recessive hypophosphatemic vitamin D refractory rickets Avellino corneal dystrophy Axenfeld-Rieger Syndrome, Type 1 Baller-Gerold syndrome Bardet-Biedl syndrome 1 (disorder) BARDET-BIEDL SYNDROME 18 Bardet-Biedl syndrome 2 (disorder) Bardet-Biedl syndrome 4 (disorder) BARDET-BIEDL SYNDROME 8 Bartter syndrome, antenatal type 1 Bartter syndrome, type 3 BARTTER SYNDROME, TYPE 4A Basal Cell Nevus Syndrome Basal ganglia disease, biotin-responsive Becker Generalized Myotonia Beckwith-Wiedemann Syndrome Benign Hereditary Chorea BETHLEM MYOPATHY 1 Biotinidase Deficiency Bohring syndrome Borjeson-Forssman-Lehmann syndrome Bowen-Conradi syndrome BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY Branchio-Oculo-Facial Syndrome Branchio-Oto-Renal Syndrome Brody myopathy Brown-Vialetto-Van Laere Syndrome 1 Brugada Syndrome (disorder) CAMPOMELIC DYSPLASIA Cantu syndrome CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) Carbamoyl-Phosphate Synthase I Deficiency Disease Cardio-facio-cutaneous syndrome Cardiomyopathy dilated with Woolly hair and keratoderma CARDIOMYOPATHY, DILATED, 1C (disorder) CARDIOMYOPATHY, DILATED, 1M CARDIOMYOPATHY, DILATED, 1R CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Idiopathic Carney Complex, Type 1 Carney Complex Carnitine-Acylcarnitine Translocase Deficiency Carnitine palmitoyl transferase 1A deficiency Carpal Tunnel Syndrome CATARACT 15, MULTIPLE TYPES CATARACT 16, MULTIPLE TYPES CATARACT 2, MULTIPLE TYPES CATARACT 20, MULTIPLE TYPES CATARACT 21, MULTIPLE TYPES CATARACT 30 CATARACT 39, MULTIPLE TYPES CATARACT 4, MULTIPLE TYPES CATARACT 5, MULTIPLE TYPES Cataract and cardiomyopathy Cataract, Congenital Zonular, with Sutural Opacities CATARACT, COPPOCK-LIKE CATARACT, POSTERIOR POLAR, 1 Cataract, Zonular Pulverulent 1 Cataract, Zonular Pulverulent 3 Cavernous Hemangioma of Brain CD59 Deficiency Central Core Myopathy (disorder) Central Diabetes Insipidus CEREBELLAR ATAXIA, CAYMAN TYPE CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Cerebral Cavernous Malformations 3 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome CEROID LIPOFUSCINOSIS, NEURONAL, 2 CEROID LIPOFUSCINOSIS, NEURONAL, 5 CEROID LIPOFUSCINOSIS, NEURONAL, 6 CEROID LIPOFUSCINOSIS, NEURONAL, 8 Ceruloplasmin deficiency CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth disease, Type 2B1 Charcot-Marie-Tooth disease, Type 4B1 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H Charcot-Marie-Tooth disease, X-linked, 1 CHARGE Syndrome Chediak-Higashi Syndrome Chilblain lupus 1 Cholestasis, Progressive Familial Intrahepatic, 2 Cholesterol Ester Storage Disease Chronic Lymphocytic Leukemia Chudley-Mccullough syndrome Chylomicron retention disease Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus CILIARY DYSKINESIA, PRIMARY, 14 CILIARY DYSKINESIA, PRIMARY, 2 (disorder) CILIARY DYSKINESIA, PRIMARY, 21 CILIARY DYSKINESIA, PRIMARY, 22 CILIARY DYSKINESIA, PRIMARY, 7 (disorder) CITRULLINEMIA, TYPE II, NEONATAL-ONSET Classical phenylketonuria Cleft palate, isolated Cleft Palate Cleft upper lip Cleidocranial Dysplasia Cockayne Syndrome, Type II Cockayne Syndrome Colorectal Carcinoma Common Variable Immunodeficiency COMPLEMENT COMPONENT 2 DEFICIENCY Complement Factor H Deficiency CONE-ROD DYSTROPHY 9 Cone monochromatism Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Congenital amegakaryocytic thrombocytopenia Congenital atransferrinemia Congenital chloride diarrhea Congenital contractural arachnodactyly Congenital disorder of glycosylation type 1A Congenital disorder of glycosylation type 1B Congenital disorder of glycosylation type 1C Congenital disorder of glycosylation, type 2C Congenital dyserythropoietic anemia type IV Congenital ectodermal dysplasia of face Congenital glucose-galactose malabsorption Congenital Hypothyroidism Congenital reticular ichthyosiform erythroderma Congestive heart failure Conventional (Clear Cell) Renal Cell Carcinoma Corneal dystrophy, Lattice type 3 Cornelia De Lange Syndrome Cortical Congenital Hyperostosis CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 Corticosteroid-Binding Globulin Deficiency Costello syndrome (disorder) Craniofacial dysostosis type 1 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT Creatine deficiency, X-linked Crigler Najjar syndrome, type 1 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) Cryptophthalmos syndrome Cutaneous Melanoma Cystic Fibrosis Cystinuria Cytochrome-c Oxidase Deficiency Deafness, Autosomal Dominant 13 Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 9 Deafness, autosomal dominant nonsyndromic sensorineural 22 Deafness, Autosomal Recessive 18 DEAFNESS, AUTOSOMAL RECESSIVE 18B DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) DEAFNESS, AUTOSOMAL RECESSIVE 2 Deafness, Autosomal Recessive 3 DEAFNESS, AUTOSOMAL RECESSIVE 31 Deafness, Autosomal Recessive 37 DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) DEAFNESS, AUTOSOMAL RECESSIVE 49 DEAFNESS, AUTOSOMAL RECESSIVE 68 Deafness, Autosomal Recessive 7 Deafness, Autosomal Recessive 79 DEAFNESS, AUTOSOMAL RECESSIVE 93 Deficiency of butyryl-CoA dehydrogenase Deficiency of galactokinase Deficiency of glycerol kinase Dejerine-Sottas Disease (disorder) Dementia, familial Danish Dermatofibrosis lenticularis disseminata Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus, Non-Insulin-Dependent DIABETES MELLITUS, PERMANENT NEONATAL DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL Diastrophic dysplasia Dicarboxylicaminoaciduria DiGeorge Syndrome Distal arthrogryposis type 5D Distal Myopathy 1 Distal Renal Tubular Acidosis Dopa-Responsive Dystonia DOYNE HONEYCOMB RETINAL DYSTROPHY Dyggve-Melchior-Clausen syndrome Dyskeratosis Congenita DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT Early infantile epileptic encephalopathy with suppression bursts Ectodermal dysplasia, hypohidrotic, with immune deficiency ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Ehlers-Danlos syndrome 6B EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Emberger Syndrome Enchondromatosis Endocrine-Cerebroosteodysplasia Epidermolysis Bullosa Herpetiformis Dowling-Meara Epidermolysis bullosa simplex with mottled pigmentation Epidermolysis Bullosa Simplex Epidermolysis bullosa with pyloric atresia EPILEPSY, BENIGN NEONATAL, 2 Epilepsy, Familial Temporal Lobe 1 EPILEPSY, PYRIDOXINE-DEPENDENT Epilepsy EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 Episodic ataxia type 1 ERYTHROCYTOSIS, FAMILIAL, 2 Erythrokeratodermia variabilis Ethylmalonic encephalopathy Eunuchoidism, familial hypogonadotropic Fabry Disease Familial aplasia of the vermis Familial benign pemphigus Familial Cold Autoinflammatory Syndrome 1 Familial cold urticaria Familial Hypertrophic Cardiomyopathy Type 4 Familial Mediterranean Fever Familial multiple trichoepitheliomata Familial Partial Lipodystrophy, Type 2 FANCONI ANEMIA, COMPLEMENTATION GROUP J Farber Lipogranulomatosis FG syndrome Fibrodysplasia Ossificans Progressiva FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT Finnish congenital nephrotic syndrome Floating-harbor syndrome Focal Dermal Hypoplasia Focal glomerulosclerosis Focal segmental glomerulosclerosis 1 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 FOXG1 syndrome Fragile X Syndrome FRASER SYNDROME 2 FRIEDREICH ATAXIA 1 Frontonasal dysplasia Frontotemporal Dementia With Motor Neuron Disease Frontotemporal dementia FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Fukuyama Type Congenital Muscular Dystrophy Fundus Albipunctatus FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY GALACTOSIALIDOSIS Gangliosidosis, Generalized GM1, Type 1 (disorder) GATA2 Deficiency Gaucher Disease, Type 1 Gaucher Disease, Type 2 (disorder) Gaucher Disease, Type 3 (disorder) Gaucher Disease Generalized Myotonia of Thomsen Generalized pustular psoriasis Genitopatellar Syndrome Geroderma osteodysplastica Gilbert Disease (disorder) Gitelman Syndrome Glioma Globoid cell leukodystrophy GLOMUVENOUS MALFORMATIONS Glucocorticoid deficiency with achalasia Glucocorticoid Receptor Deficiency Glucose-6-phosphate transport defect Glut1 Deficiency Syndrome Glutaric aciduria, type 1 Glycogen storage disease type II Glycogen Storage Disease Type III Glycogen Storage Disease Type IV Glycogen Storage Disease Type V Glycogen Storage Disease Type VII Goldberg-Shprintzen megacolon syndrome Gonadal dysgenesis XX type deafness Gout, HPRT-Related GRACILE SYNDROME (disorder) Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Growth Deficiency and Mental Retardation with Facial Dysmorphism Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy Hajdu-Cheney Syndrome Hand foot uterus syndrome Hay-Wells syndrome Hematuria, Benign Familial HEMOCHROMATOSIS, TYPE 2A HEMOCHROMATOSIS, TYPE 3 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 Hemophilia B Hereditary Breast and Ovarian Cancer Syndrome Hereditary Diffuse Leukoencephalopathy with Spheroids Hereditary Leiomyomatosis and Renal Cell Cancer Hereditary liability to pressure palsies Hereditary motor and sensory neuropathy with optic atrophy (disorder) Hereditary Nonpolyposis Colorectal Cancer Hereditary pancreatitis Herlitz Disease HERMANSKY-PUDLAK SYNDROME 3 HERMANSKY-PUDLAK SYNDROME 5 HETEROTAXY, VISCERAL, 1, X-LINKED HETEROTAXY, VISCERAL, 4, AUTOSOMAL HHH syndrome Histiocytosis with joint contractures and sensorineural deafness Histiocytosis, Langerhans-Cell HMG CoA lyase deficiency Holocarboxylase Synthetase Deficiency HOLOPROSENCEPHALY 5 Holt-Oram syndrome HSAN Type IV HUNTINGTON DISEASE-LIKE 2 Hyalinosis, Systemic Hyaluronidase Deficiency Hyper-IgM Immunodeficiency Syndrome, Type 1 HYPERALPHALIPOPROTEINEMIA 1 Hyperammonemia, type III HYPEREKPLEXIA 2 Hyperinsulinemic hypoglycemia, familial, 6 Hyperkalemic periodic paralysis Hyperkeratosis, Epidermolytic Hyperparathyroidism-Jaw Tumor Syndrome HYPERPARATHYROIDISM, NEONATAL SEVERE Hyperphosphatasemia with bone disease Hyperprolactinemia Hypertrophic Cardiomyopathy Hyperuricemic Nephropathy, Familial Juvenile 1 Hypoalphalipoproteinemia, Familial HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 Hypocalciuric hypercalcemia, familial, type 1 Hypochondroplasia (disorder) HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA Hypogonadotropic hypogonadism Hypokalemic periodic paralysis Hypomyelination, Global Cerebral Hypoparathyroidism familial isolated Hypophosphatemic Rickets, Autosomal Recessive, 1 Hypoplastic Left Heart Syndrome HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME HYPOTRICHOSIS 6 Ichthyosis Bullosa of Siemens Ichthyosis linearis circumflexa ICHTHYOSIS PREMATURITY SYNDROME Idiopathic basal ganglia calcification 1 Idiopathic hypogonadotropic hypogonadism Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) Infantile Sialic Acid Storage Disease Inherited Factor II deficiency Insulin-Like Growth Factor I Deficiency INTERSTITIAL NEPHRITIS, KARYOMEGALIC Jalili syndrome Jarcho-Levin syndrome Jervell-Lange Nielsen Syndrome JOUBERT SYNDROME 6 JOUBERT SYNDROME 7 Junctional Epidermolysis Bullosa Juvenile Myelomonocytic Leukemia Juvenile Myoclonic Epilepsy Juvenile Neuronal Ceroid Lipofuscinosis Kabuki make-up syndrome Keratosis Follicularis Kidney Neoplasm KUFOR-RAKEB SYNDROME L-2-HYDROXYGLUTARIC ACIDURIA Lacrimoauriculodentodigital syndrome Lafora Disease Laron Syndrome Larsen syndrome Late-Infantile Neuronal Ceroid Lipfuscinosis LATE-ONSET RETINAL DEGENERATION (disorder) Lattice corneal dystrophy Type I Leber Congenital Amaurosis 14 LEBER CONGENITAL AMAUROSIS 5 LEBER CONGENITAL AMAUROSIS 6 (disorder) Leber Congenital Amaurosis Leigh Disease LEPTIN DEFICIENCY OR DYSFUNCTION Lesch-Nyhan Syndrome Leukemia, Myelocytic, Acute leukemia Leukocyte Adhesion Deficiency, Type III Leukodystrophy, Hypomyelinating, 2 Leukodystrophy, Metachromatic Leukokeratosis, Hereditary Mucosal Lewy Body Disease Leydig cell agenesis Li-Fraumeni Syndrome Liddle Syndrome LIG4 Syndrome Limb-girdle muscular dystrophy type 2A Lipoid congenital adrenal hyperplasia Liver carcinoma Lobstein Disease Loeys-Dietz Syndrome Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long QT Syndrome 1 Low phospholipid-associated cholelithiasis Lupus Erythematosus, Systemic Lymphangioleiomyomatosis Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Malignant hyperpyrexia due to anesthesia Malignant neoplasm of breast Malignant neoplasm of ovary Malignant neoplasm of pancreas Malignant neoplasm of prostate Malignant neoplasm of stomach Malignant neoplasm of urinary bladder Malonic aciduria MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Mandibulofacial Dysostosis Maple Syrup Urine Disease Marfan Syndrome MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) Maturity onset diabetes mellitus in young McCune-Albright Syndrome Meckel syndrome type 1 Meckel syndrome type 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency Medullary Cystic Kidney Disease Type 2 Medulloblastoma Megaloblastic Anemia 1 melanoma MELAS Syndrome Mental Retardation, Autosomal Recessive 2 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE Metaphyseal chondrodysplasia Schmid type Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Methylmalonic Aciduria, mut(0) Type METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 MICROPHTHALMIA, ISOLATED 6 Milroy Disease MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) MITOCHONDRIAL COMPLEX I DEFICIENCY MOHR-TRANEBJAERG SYNDROME Mosaic variegated aneuploidy syndrome 1 Mowat-Wilson syndrome MPS III C MPS III D Mucolipidosis Type IV Mucopolysaccharidosis III Mucopolysaccharidosis type IVB Mucopolysaccharidosis VI Mucopolysaccharidosis VII Mucosa-Associated Lymphoid Tissue Lymphoma Muenke Syndrome Mulibrey Nanism Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Endocrine Neoplasia Type 2a Multiple Endocrine Neoplasia Type 2b Multiple Endocrine Neoplasia, Type IV Multiple fibrofolliculomas Multiple Sulfatase Deficiency Disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Muscular dystrophy congenital, merosin negative MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) Muscular Dystrophy, Congenital, Megaconial Type Muscular Dystrophy, Emery-Dreifuss Muscular Dystrophy, Limb-Girdle, Type 2G Mutilating keratoderma MYASTHENIC SYNDROME, CONGENITAL, 12 MYASTHENIC SYNDROME, CONGENITAL, 8 MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY MYD88 Deficiency Myelofibrosis Myeloid Leukemia, Chronic Myopathy, Congenital, Compton-North NADH cytochrome B5 reductase deficiency Nail-Patella Syndrome Nance-Horan syndrome Narcolepsy NEMALINE MYOPATHY 10 Nemaline Myopathy 2 NEMALINE MYOPATHY 8 Nephroblastoma Nephrogenic Diabetes Insipidus, Type I Nephrogenic Diabetes Insipidus Nephrogenic Syndrome of Inappropriate Antidiuresis Nephronophthisis 1 NEPHRONOPHTHISIS 2 NEPHRONOPHTHISIS 3 NEPHRONOPHTHISIS 4 Nephropathic cystinosis NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB Neutral Lipid Storage Disease with Myopathy Niemann-Pick Disease, Type A Niemann-Pick Disease, Type B NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F NONAKA MYOPATHY Nonketotic Hyperglycinemia NOONAN SYNDROME 10 Noonan Syndrome 4 Noonan Syndrome Northern epilepsy syndrome Obesity Oculo-dento-digital syndrome Oculocutaneous albinism type 1A Oculocutaneous Albinism, Type IV Ogden syndrome Opsismodysplasia Osteogenesis imperfecta type III (disorder) Osteogenesis imperfecta type IV (disorder) Osteogenesis imperfecta, dominant perinatal lethal Osteogenesis Imperfecta, Type VI OSTEOGENESIS IMPERFECTA, TYPE X Osteogenesis Imperfecta Osteoma cutis Osteopathia striata cranial sclerosis Osteopetrosis Autosomal Dominant Type 2 Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 6 Osteopetrosis, mild autosomal recessive form Osteoporosis with pseudoglioma Osteoporosis Osteosarcoma Otospondylomegaepiphyseal dysplasia Ovalocytosis, Malaysian-Melanesian-Filipino Type Ovarian Hyperstimulation Syndrome Ovotesticular Disorders of Sex Development Pancreatic Neoplasm Papillary Renal Cell Carcinoma Papillorenal syndrome Paramyotonia Congenita (disorder) Parathyroid Gland Adenocarcinoma PARIETAL FORAMINA PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE Parkinson Disease 6, Autosomal Recessive Early-Onset PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET Parkinsonism-Dystonia, Infantile PAROXYSMAL EXTREME PAIN DISORDER Paroxysmal Nonkinesigenic Dyskinesia 1 Pelger-Huet Anomaly Pelizaeus-Merzbacher Disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peutz-Jeghers Syndrome Pfeiffer Syndrome Pheochromocytoma Pick Disease of the Brain Pierre Robin syndrome with fetal chondrodysplasia PITT-HOPKINS SYNDROME Pityriasis Rubra Pilaris PNEUMOTHORAX, PRIMARY SPONTANEOUS Poikiloderma of Kindler Poikiloderma with Neutropenia POLYARTERITIS NODOSA, CHILDHOOD-ONSET Polyglandular Type I Autoimmune Syndrome Polyglucosan Body Disease, Adult Form POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE Popliteal pterygium syndrome Porphyria, Erythropoietic Potassium aggravated myotonia Potocki-Lupski syndrome Prader-Willi Syndrome Primary Erythermalgia Primary hypomagnesemia (disorder) Primary Myelofibrosis Progressive pseudorheumatoid dysplasia Proline dehydrogenase deficiency Propionic acidemia Protein C Deficiency Pseudohypoparathyroidism, Type Ia PSORIASIS 2 PTEN Hamartoma Tumor Syndrome Purine-nucleoside phosphorylase deficiency RAPP-HODGKIN SYNDROME Refsum Disease Renal carnitine transport defect Renal Cell Carcinoma Renal cysts and diabetes syndrome Renpenning syndrome 1 Retinal cone dystrophy 2 RETINITIS PIGMENTOSA 12 (disorder) RETINITIS PIGMENTOSA 3 RETINITIS PIGMENTOSA 41 (disorder) Retinitis Pigmentosa Retinoblastoma Rett Syndrome RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 Rhizomelic chondrodysplasia punctata, type 2 Rhizomelic chondrodysplasia punctata, type 3 Rippling muscle disease Rothmund-Thomson syndrome Rubinstein-Taybi Syndrome Rudiger syndrome 1 Saethre-Chotzen Syndrome Sandhoff Disease Schimke immunoosseous dysplasia Schizophrenia Schnyder crystalline corneal dystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Senter syndrome SeSAME syndrome Severe combined immunodeficiency due to adenosine deaminase deficiency Severe combined immunodeficiency with sensitivity to ionizing radiation Severe dermatitis, multiple allergies, metabolic wasting syndrome SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME SHORT syndrome Shprintzen syndrome Siderius X-linked mental retardation syndrome Smith-Magenis syndrome SMITH-MCCORT DYSPLASIA Spastic paraplegia 11, autosomal recessive SPASTIC PARAPLEGIA 2, X-LINKED (disorder) SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE SPHEROCYTOSIS, TYPE 3 (disorder) Spherocytosis, Type 4 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 Spinocerebellar ataxia 14 SPINOCEREBELLAR ATAXIA 27 SPINOCEREBELLAR ATAXIA 28 SPINOCEREBELLAR ATAXIA 29 Spinocerebellar Ataxia Type 1 Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia Type 7 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY SPONDYLOCOSTAL DYSOSTOSIS 5 Spondyloepimetaphyseal Dysplasia, Pakistani Type Spondyloepiphyseal dysplasia, congenita Stickler syndrome, type 1 Stormorken Syndrome Sturge-Weber Syndrome STUVE-WIEDEMANN SYNDROME Sudden infant death syndrome Sulfatidosis, Juvenile, Austin Type Supravalvular aortic stenosis SYMPHALANGISM, PROXIMAL Syndactyly Cenani Lenz type Syndactyly, type 2 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) TARP syndrome TARSAL-CARPAL COALITION SYNDROME Tatton Brown Rahman syndrome Tay-Sachs Disease Tetralogy of Fallot Thanatophoric dysplasia, type 2 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Thiamine responsive megaloblastic anemia syndrome Thrombasthenia Thrombocytopenia-Absent Radius Syndrome THROMBOCYTOPENIA 1 (disorder) Thyroid Hormone Resistance Syndrome Tietz syndrome Timothy syndrome TNF receptor-associated periodic fever syndrome (TRAPS) TORG-WINCHESTER SYNDROME Torre-Muir syndrome Townes syndrome Trichorhinophalangeal dysplasia type I Trifunctional Protein Deficiency With Myopathy And Neuropathy Triosephosphate Isomerase Deficiency TUBEROUS SCLEROSIS 2 (disorder) Tuberous Sclerosis TUMOR PREDISPOSITION SYNDROME Turcot syndrome (disorder) Type II Mucolipidosis Tyrosine Transaminase Deficiency Disease Tyrosinemia, Type III Ullrich congenital muscular dystrophy 1 Ulnar-mammary syndrome Unipolar Depression Unverricht-Lundborg Syndrome Usher Syndrome, Type I USHER SYNDROME, TYPE IG Usher Syndrome, Type II Uveal melanoma Van Buchem disease Van der Woude syndrome Very long chain acyl-CoA dehydrogenase deficiency Von Hippel-Lindau Syndrome Waardenburg Anophthalmia Syndrome Waardenburg Syndrome Type 1 Waardenburg Syndrome Type 2 WAARDENBURG SYNDROME, TYPE IIA Waardenburg Syndrome WARBURG MICRO SYNDROME 3 Warburg Sjo Fledelius syndrome WARSAW BREAKAGE SYNDROME Weber-Cockayne Syndrome Weill-Marchesani Syndrome, Autosomal Dominant Weill-Marchesani syndrome Werner Syndrome Wiskott-Aldrich Syndrome Wolf-Hirschhorn Syndrome Wolff-Parkinson-White Syndrome Wolman Disease X-linked agammaglobulinemia X-Linked Dyskeratosis Congenita X-Linked Lymphoproliferative Disorder Xanthinuria, Type I XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E Xeroderma pigmentosum, group B Xeroderma pigmentosum, group F Xeroderma pigmentosum, group G Xeroderma pigmentosum, variant type Young Simpson syndrome Yunis Varon syndrome Zellweger Syndrome