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Malignant Neoplasm of the Urinary Bladder Stage 4B Parotid Disease Autoimmune Atherosclerosis Carotid Artery Disease DEAF1-Related Disorders Barrett Esophagus with High-Grade Dysplasia Bleomycine-Resistant Testicular Cancer Susceptibility to Mercaptopurine Toxicity Non-Spherocytic Hemolytic Anemia with Abnormality of Red-Cell Membrane Idiopathic Generalized Epilepsy Type 4 Adult Lymphoma Carcinoma Showing Thymus-Like Elements Facial Diplegia with Paresthesias Idiopathic Generalized Epilepsy Type 5 Autoimmune Disease of the Eyes - Ears - Nose - Throat Willems-de Vries-van der Weerd Syndrome Susceptibility to Endometriosis 1 Age-Related Hearing Impairment Type 1 Autoimmune Disease of the Endocrine System Cancer - Alopecia - Pigment Dyscrasia - Onychodystrophy - Keratoderma Congenital Muscular Dystrophy-Dystroglycanopathy X-Linked Congenital Nystagmus Type 6 Supernumerary Der(22)t(8;22) Syndrome Optic Atrophy - Opthalmoplegia - Ptosis - Deafness - Myopia Sensory Neuropathy with Spastic Paraplegia Adenosquamous Carcinoma Epithelial-Subepithelial Corneal Dystrophy Susceptibility to Essential Hypertension 6 Blastic Plasmacytoid Dendritic Cell Neoplasm Epimetaphyseal Dysplasia - Cataract Childhood Cerebral Neoplasm Keratoconus Type 3 Cranial or Spinal Nerve Neoplasm Acquired Metabolic Disease Chronic Demyelinizing Neuropathy with IgM Monoclonal Immunodeficiency with Defective T-Cell Response to IL1 Ehlers-Danlos Syndrome Arthrochalasia Type 2 Variation in Skin/Hair/Eye Pigmentation Type 2 Luminal Breast Carcinoma Aggressive Periodontitis Type 2 Susceptibility to Autoimmune Thyroid Disease 4 Nasal Cavity Disorder Susceptibility to Autoimmune Thyroid Disease 1 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type DFNB Fibular Hypoplasia - Scapulo-Pelvic Dysplasia - Absent 5th Fingers Maxillary Double Lip Lower Extremity-Predominant Spinal Muscular Atrophy Type 2 Brachydactyly - Tibial Hypoplasia Short Stature - Microcephaly - Seizures - Deafness Depressed Scar Agenesis of the Corpus Callosum - Facial Anomalies - Cerebellar Ataxia Hereditary Essential Tremor Type 2 Hereditary Angioedema with C1Inh Deficiency Fibro-Adipose Vascular Anomaly Proteus-Like Syndrome - Mental Retardation - Eye Defect Autosomal Recessive Split Hand-Split Foot Malformation lissencephaly - Polymicrogyria White Fibrous Papulosis of the Neck Radio-Digito-Facial Dysplasia Natural Earring Holes Chromosomal Duplication Childhood Malignant Parathyroid Neoplasm Mitochondrial Complex 1 Deficiency Nuclear Type26 Brachydactyly - Small Stature - Facial Anomalies Glaucoma with Elevated Episcleral Venous Pressure New Daily Persistent Headache Iris Pigment Epithelium Anomalies Neurodevelopmental Disorder with Impaired Speech - Hyperkinetic Movements Metastatic Insulinoma Autosomal Dominant Distal Axonal Motor Neuropathy - Myofibrillar Myopathy X-Linked Monogenic Disease Familial Myoclonus Type 2 Commissural Lip Pits Low IgD Levels Nerve Root Tumor Pseudomonilethrix Pyriform Sinus Tumor Contact Blepharoconjunctivitis Uterine Ligament Cancer Incisors, Long Upper Central Childhood Malignant Pheochromocytoma Ovarian Endometrioid Stromal Sarcoma Cervical Endometrial Stromal Sarcoma Metastatic Squamous Neck Cancer with Occult Primary Posterior Urethral Cancer Sodium Channelopathy-Related Small Fiber Neuropathy Susceptibility to IgA Nephropathy 2 Malignant Pleural Solitary Fibrous Tumor Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm X-Linked Deafness Bronchiectasis in Ciliary Dyskinesia Renal Agenesis - Meningomyelocele - Absence of Müllerian Structures Childhood Malignant Nasopharyngeal Neoplasm TRIO-Related Intellectual Disability Malignant Mixed Epithelial Stromal Tumor SCN1A-Related Seizure Disorders Pseudomonas Stutzeri Infection Ectoparasitic Infestation Hypergonadotropic Ovarian Failure Inability to Smell Butyl Mercaptan Pancytopenia - Vascular Occlusive Disease ATP1A3-Related Neurologic Disorders Diarrhea-Positive Hemolytic Uremic Syndrome Distal Arthrogryposis - Mental Retardation - Characteristic Facies Lymphatic Malformation Type 3 Familial Erythrocytosis Type 7 Congenital Heart Disease - Ptosis - Hypodontia - Craniostosis Bone Squamous Cell Carcinoma Atonic-Astatic Syndrome of Foerster Galloway-Mowat Syndrome Type 8 Hepatitis B Reinfection after Liver Transplantation Reductional Transverse Limb Defects Age-Related Macular Degeneration Type 9 Short Stature - Obesity Apple Allergy Expansile Bone Lesions Childhood-Onset Neurodegeneration with Cerebellar Atrophy Myokymia with Neonatal Epilepsy Post-Streptococcal Neurologic Disorders TRPV4-Related Disorders GDAP1-Related Hereditary Motor and Sensory Neuropathy COL4A1-Related Brain Small-Vessel Disease Morel's Ear Congenital Hiatus Hernia Autosomal Recessive Woolly Hair Type 3 Breast Squamous Cell Carcinoma Infantile-Onset Axonal Motor and Sensory Neuropathy - Optic Atrophy - Neurodegeneration Dementia-Parkinsonism with Non-Alzheimer Amyloid Plaques Facial Dysmorphism - Cleft Palate - Hearing Loss - Camptodactyly Pleoconial Myopathy with Salt Craving Tiger Prawn Allergy Complication of Organ Transplantation Fetal Nicotine Spectrum Disorder Christian-Johnson-Angenieta Syndrome Acute Syringitis Mitochondrial DNA-Related Leigh Syndrome and NARP Cerebral Cavernous Malformations Insulin-Dependent Diabetes Mellitus Type 11 Sideroblastic Anemia Type 4 Chronic Angina Chronic Bilirubin Encephalopathy Cortés-Lacassie Syndrome Intellectual Developmental Disorder with Dysmorphic Facies - Seizures - Distal Limb Anomalies Combined Hyperlipidemia Type 2 Dysautonomia-Like Disorder Carcinoma in Situ Primary Malignant Bone Neoplasm Transverse Limb Deficiency - Hemangioma GNAS Inactivation Disorder Neurodevelopmental Disorder with Microcephaly - Epilepsy - Hypomyelination Mitochondrial Complex 1 Deficiency Nuclear Type 9 Erb-Duchenne Palsy - Klumpke Palsy Neurodevelopmental Disorder with Involuntary Movements Sternal Cyst - Vascular Anomalies Isolated Thoracic Dysostosis Familial Skewed X Inactivation Type 2 Neurodevelopmental Disorder with Central Motor Dysfunction - Peripheral Motor Dysfunction Fronto-Nasal Malformation - Cloacal Exstrophy Postorgasmic Illness Syndrome GALOP Syndrome Omphalocele - Diaphragmatic Hernia - Radial Ray Defects Carboxypeptidase N Deficiency Disseminated Intravascular Coagulation in the Newborn Non-Syndromic Disorder of Testicular Development DOCK2 Deficiency Suprofen Allergy Joint Contractures - Webbed Neck - Micrognathia - Hypoplastic Nipples WAS-Related Disorders Fetal Parainfluenza Virus Type 3 Syndrome Hydrocephalus - Skeletal Anomalies Progressive Transformation of Germinal Centers Anotia - Facial Palsy - Cardiac Defect X-Linked Lymphoproliferative Disease due to SH2D1A Deficiency GM2-Gangliosidosis Types B - B1 - Ab Susceptibility to Wilms Tumor Susceptibility to Autoimmune Thyroid Disease 2 Familial Skewed X Inactivation Type 1 Susceptibility to Bacteremia 1 Extensive Peripapillary Myelinated Nerve Fibers Renal Caliceal Diverticuli - Deafness ALS2-Related Disorders Congenital Retinal Arteriovenous Communication Polycystic Lipomembranous Osteodysplasia-Sclerosing Leukoencephalopathy Syndrome Type 2 Chlorpropamide-Alcohol Flushing Baker-Gordon Syndrome Numeric Sex Chromosome Variations Plasma Protein Disorder Combined Oxidative Phosphorylation Defect Type 37 Facial Abnormalities - Kyphoscoliosis - Mental Retardation Propylthiouracil Embryofetopathy Autosomal Recessive Primary Microcephaly Type 25 Van Allen-Myhre Syndrome Dominant Cleft Palate Duodenojejunal Atresia - Volvulus - Absent Dorsal Mesentery Artery - Absent Superior Mesenteric Artery Mosaic Genome-Wide Paternal Uniparental Disomy Brachydactyly due to the Absence of Distal Phalanges Insensitivity to Pain - Hyperplastic Myelinopathy Neonatal Severe Encephalopathy - Lactic Acidosis - Brain Abnormalities Dermotrichic Syndrome Hemophilia A with Vascular Abnormality Late-Onset Focal Dermal Elastosis Congenital Absence of the Vas Deferens in Cystic Fibrosis Neurodevelopmental Disorder with Microcephaly - Hypotonia - Variable Brain Anomalies Congenital Abnormality of the Nervous System Agenesis of the Scrotum Melanoma in Congenital Melanocytic Nevus Asternia - Cardiac Defects - Diaphragmatic Defects - Abdominal Defects Midface Dysplasia Corneal Dystrophy - Ichthyosis - Microcephaly - Mental Retardation Aniridia - Ptosis - Intellectual Disability - Familial Obesity Inborn Error of Steroid Metabolism Unexplained Long-Lasting Fever Short Stature - Facial Dysmorphism - Skeletal Anomalies - Cardiac Anomalies Hypertrophic Neuropathy - Cataract SLC39A14 Deficiency Tune Deafness PNPLA6-Related Spastic Paraplegia - Distal Muscle Wasting Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria Delta Heavy Chain Disease Median-Ulnar Nerve Communications High-Grade Neuroendocrine Carcinoma of the Cervix Uteri Hypertrophic Branchial Myopathy Allergy to Brown Shrimps Distal Renal Tubular Acidosis - Nephrocalcinosis - Short Stature - Mental Retardation - Distinctive Facies Autoimmune Gastrointestinal Dysmotility Age-Related Macular Degeneration Type 7 Specific Language Impairment Type 3 Cone-Rod Dystrophy - Hearing Loss Type 2 Major Depressive Disorder Type 2 Congenital Muscular Dystrophy with Cerebellar Atrophy Spastic Paraplegia - Optic Atrophy - Microcephaly - XY Sex Reversal Y-Linked Monogenic Disease Scalp Angiosarcoma Hyaluronidase 2 Deficiency Thymus Lipoma Pilo-Dento-Ungular Dysplasia - Microcephaly Essential Iris Atrophy Gonadal Dysgenesis - Dysmorphic Facies - Retinal Dystrophy - Myopathy Malignant Extragonadal Non-Seminomatous Germ-Cell Tumor X-Linked Syndromic Mental Retardation Type 34 Silent-Allele Beta-Thalassemia Hypomyelinating Leukodystrophy Type 14 Olivopontocerebellar Atrophy - Deafness Car Factor Deficiency Ureteral Tuberculosis Multiple Types of Congenital Heart Defects Type 5 Inborn Error of Metal Metabolism Far Eastern Spotted Fever Cardiac Hydatid Cysts with Intracavitary Expansion Maleic Anhydride Allergic Asthma Globulin Anomaly Involving Beta-2A-Globulin Recurrent Isolated Invasive Pneumococcal Disease Type 2 SMARCA4-Deficient Thoracic Sarcoma FREM1-Related Autosomal Recessive Disorders Mills Syndrome ANO5-Related Muscle Diseases Early Infantile Epileptic Encephalopathy Type 73 Dislocated Elbows - Bowed Tibias - Scoliosis - Deafness - Cataract - Microcephaly - Mental Retardation Secundum Atrial Septal Defect with Various Cardiac and Non-Cardiac Defects Alopecia - Mental Retardation - Seizures Flat Intraepithelial Lesion of the Bladder SYNE1 Deficiency Pigmentation Defects - Palmoplantar Keratoderma - Skin Carcinoma Spastic Angina with Healthy Coronary Artery Mucous Membrane Malignant Melanoma Neurodevelopmental Disorder with Regression - Abnormal Movements - Loss of Speech - Seizures Acute Alcohol Sensitivity Engelhard-Yatziv Syndrome Autosomal Recessive Epidermolytic Ichthyosis Neonatal Brainstem Dysfunction Undefined Platelet Disorder Diphenylthiourea Allergic Contact Dermatitis Autoimmune Disease of the Skin and Connective Tissue Fryns-Smeets-Thiry Syndrome Port-Wine Nevi - Mega Cisterna Magna - Hydrocephalus Infantile Hypertrophic Pyloric Stenosis Type 5 Recurrent Isolated Invasive Pneumococcal Disease Type 1 Dysmorphism - Cleft Palate - Loose Skin Recurrent Diffuse Large B-Cell Lymphoma Dens in Dente - Palatal Invaginations Autoimmune Disease of the Cardiovascular System Trisomy 11p Toluene Diisocyanate Asthma CLCN-Related Osteopetrosis Adult Hereditary Glaucoma Type 1A Congenital Anomaly of Coronary Arteries Double Discordia Adult Extraosseous Chondrosarcoma Distal Arthrogryposis Type 2B3 X-Linked Immunodeficiency with GLP115 Deficiency PENS Syndrome Congenital Diarrhea Type 9 Congenital Heart Defects - Dysmorphic Facial Features - Intellectual Developmental Disorder Neurometabolic Disorder due to Serine Deficiency Neurodevelopmental Disorder with Impaired Intellectual Development - Hypotonia - Ataxia Ataxia - Deafness - Cardiomyopathy Myelinated Optic Nerve Fibers Flat Ductal Epithelial Atypia of the Breast NEDMAS Syndrome Familial Chilblain Lupus Erythematosus Early Infantile Epileptic Encephalopathy Type 50 Trabecular Myopathy Stable-Condition Keratoconus Snail Allergy Variation in Skin/Hair/Eye Pigmentation Type 8 Osteochondrodysplatic Dwarfism - Deafness - Retinitis Pigmentosa Axonal Neuropathy Turnpenny-Fry Syndrome Malignant Skeletal Muscle Neoplasm Metopic Ridging - Ptosis - Facial Dysmorphism Postcardiotomy Right Ventricular Failure Brainstem Medulloblastoma Adnexal Spiradenoma Associative Agnosia Pulmonary Artery Disease Pituitary Dermoid and Epidermoid Cysts SALL4-Related Disorders Chronic Syringitis Tremor of Intention - Ataxia - Lipofuscinosis Recombinase Activating Gene 1 Deficiency Farmer Syndrome Hyperekplexia Type 4 Retinal Dystrophies Primarily Involving Bruch's Membrane Angiokeratoma of Mibelli Familial Persistent Stuttering Type 3 Infantile Multisystem Neurologic Disease with Osseous Fragility Hereditary Motor and Sensory Neuropathy Type 1 - Aplasia Cutis Congenita Simple Partial Epilepsy Cranial Nerve Neoplasm Split Lower Lip SETBP1-Related Disorder Lethal Dwarfism - Advanced Bone Age Spondylocostal Dysostosis - Hypospadias - Intellectual Disability Lymphopenic Hypergammaglobulinemia - Antibody Deficiency - Autoimmune Hemolytic Anemia - Glomerulonephritis Sucrosuria - Hiatus Hernia - Mental Retardation Tibial Aplasia - Ectrodactyly - Hydrocephalus Multiple Mitochondrial Dysfunctions Syndrome Type 6 Respiratory Allergy Gaucher Disease - Ichthyosis - Restrictive Dermopathy Mosaic Variegated Aneuploidy Syndrome Type 3 Variation in Hair Thickness Type 1 Vascular Neoplasm Acromegaloid Features - Overgrowth - Cleft Palate - Hernia Reproductive System Disease Witteveen-Kolk Syndrome Non-Insulin-Dependent Diabetes Mellitus Type 2 Platelet-Signal-Processing Defect Bowman's Membrane Folds or Rupture Congenital Ectodermal Dysplasia with Hearing Loss Splenic Tuberculosis FRAXF Syndrome Creatine Deficiency Syndromes Westerhof-Beemer-Cormane Syndrome Proteasome-Related Autoinflammatory Syndrome Type 2 Nelson-Syndrome Dermal Ridges Striated-Muscle Rhabdoid Tumor Neonatal-Period Electroclinical Syndrome Bulbospinal Poliomyelitis Chronic Lymphocytic Leukemia - Small Lymphocytic Lymphoma Vagneur-Triolle-Ripert Syndrome 14q32 Duplication Syndrome APC-Related Polyposis Disorders Rheumatic Encephalitis Pediatric Multiple Sclerosis Osteosarcoma in Paget Disease of the Bone Autosomal Hereditary Disease Renal Aminoaciduria Short-Limbed Dwarfism - Edema - Iris Coloboma Keratoconus Type 6 Severe Hepatic Fibrosis due to Schistosoma Mansoni Infection Insulin-Dependent Diabetes Mellitus Type 7 Gonadal Disease Neurological Sequelae of Lupus Erythematosus Spinal Muscular Atrophy with Mental Retardation X-Linked Keloid Scarring - Reduced Joint Mobility - Increased Optic Cup-to-Disc Ratio Acral Dysostosis - Dyserythropoiesis Genetic Non-Syndromic Obesity ANGPT1-Related Hereditary Angioedema with Normal C1Inh Idiopathic Generalized Epilepsy Type 2 Early Myoclonic Encephalopathy Malformation of the Arms Perinatal Hepatic Jaundice Congenital Portosystemic Shunt Orbital Lymphangioma Pericardial Defect - Diaphragmatic Defect Immune Dysregulation - Inflammatory Bowel Disease - Arthritis - Recurrent Infections - Lymphopenia Idiopathic Generalized Epilepsy Type 8 FMR1-Related Disorders Combined Oxidative Phosphorylation Deficiency Type 39 Familial Lissencephaly - Cleft Palate - Cerebellar Hypoplasia Androgenetic Alopecia Type 2 Paget Disease of the Penis Severe Infection by Streptococcus Group A Syndactyly - Camptodactyly - Scoliosis Thrombocytopenia - Cerebellar Hypoplasia - Short Stature Sterility due to Immotile Flagella Cardiomelic Syndrome Type Stratton-Koehler Duodenal Atresia - Tetralogy of Fallot Mitochondrial Myopathy with Cataract Trisomy 19p Malignant Femoral Neoplasm Retinitis Pigmentosa Type 85 Humero-Metacarpal Chondrodysplasia Punctata Syndactyly - Ectodermal Dysplasia - Cleft Lip-Palate-Hand-Foot Adult-Onset Muscular Dystrophy with Leukoencephalopathy Null-Cell Acute Lymphoblastic Leukemia Neonatal Antiphospholipid Syndrome 16p12.2 Microdeletion Syndrome Childhood Leukemia Platelet Factor 3 Deficiency ELANE-Related Neutropenia Macrocystic Neurilemmoma Cleft Palate - Colobomata - Radial Synostosis - Deafness Triglyceride Storage Disease Type 2 GRIN2B-Related Neurodevelopmental Disorder Retinal Dystrophy with Extraocular Anomalies Familial Hypertrophic Cardiomyopathy Type 14 Variation in Skin/Hair/Eye Pigmentation Type 6 Spondyloepimetaphyseal Dysplasia with Joint Laxity Selective Immunoglobulin Deficiency Disease Congenital Heart Disease - Radioulnar Synostosis - Mental Retardation Vitamin Metabolic Disorder Primary Release Disorder of Platelets X-Linked Congenital Stationary Night Blindness Autosomal Dominant Congenital Stationary Night Blindness Oguchi Disease Type 1 Congenital Non-Progressive Cone-Rod Synaptic Disorder Congenital Stationary Night Blindness Type 1I Congenital Stationary Night Blindness Type 1H Congenital Stationary Night Blindness Type 1G Cutaneous Skeletal Hypophosphatemia Syndrome Acute Hydrops Keratoconus Polyomavirus Allograft Nephropathy Meckel Syndrome Type 13 Bardet-Biedl Syndrome Type 21 Bardet-Biedl Syndrome Type 20 X-Linked Mental Retardation with Isolated Growth Hormone Deficiency Joubert Syndrome Type 1 Senior-Løken Syndrome Type 1 Leber Congenital Amaurosis Type 19 Leber Congenital Amaurosis Type 18 Cone Rod Dystrophy Achromatopsia Type 7 Achromatopsia Type 6 Achromatopsia Type 5 Myopia Type 26 Myopia Type 25 Myopia Type 20 Myopia Type 19 Idiopathic Basal Ganglia Calcification Type 1 Klippel-Feil Syndrome Type 4 with Nemaline Myopathy and Facial Dysmorphism Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 Platelet-Type Bleeding Disorder 22 Platelet-Type Bleeding Disorder 21 Platelet-Type Bleeding Disorder 20 Autism Spectrum Disorder Familial Temporal Lobe Epilepsy Type 8 Familial Temporal Lobe Epilepsy Type 7 Familial Temporal Lobe Epilepsy Type 1 Muscular Dystrophy-Dystroglycanopathy Type A1 Muscular Dystrophy-Dystroglycanopathy Type A9 Muscular Dystrophy-Dystroglycanopathy Type C8 Vegetative Pyoderma Gangrenosum Familial Hypertrophic Cardiomyopathy Type 25 Overgrowth Syndrome with 2q37 Translocation Mitochondrial Complex 1 Deficiency Nuclear Type 16 Insulin-Dependent Diabetes Mellitus 3 Mitochondrial Complex 1 Deficiency Nuclear Type 30 Idiopathic Generalized Epilepsy 14 Symphalangism of Toes Short Stature - Mental Retardation - Callosal Agenesis - Heminasal Hypoplasia - Microphthalmia - Atypical Clefting Congenital Generalized Hypercontractile Muscle Stiffness Syndrome PLP1-Related Disorder Multiple Mitochondrial Dysfunctions Syndrome Type 4 Ego-Dystonic Sexual Orientation Childhood Precursor T-Lymphoblastic Lymphoma/Leukemia Keratinizing Desquamative Epithelial Squamous Dysplasia of the Urinary Tract Spermatogenic Failure 38 RAB18 Deficiency PRRT2-Associated Paroxysmal Movement Disorder Y-Linked Deafness 2 Variation in Skin/Hair/Eye Pigmentation 10 ADAMTSL4-Related Eye Disorder Cerebellopontine Angle Neurinoma KMT2B-Related Dystonia Age-Related Macular Degeneration 11 Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct Peach Allergy GNAO1 Encephalopathy Scalp Dermatosis Cardiomyopathy - Spherocytosis Progressive Encephalopathy with Amyotrophy and Optic Atrophy Limb-Girdle Muscular Dystrophy Type 2X Autosomal Recessive Muscular Dystrophy with Cardiomyopathy and Triangular Tongue Limb-Girdle Muscular Dystrophy Type 2Z Autosomal Recessive Myopathy with Rigid Spine and Distal Joint Contractures Limb-Girdle Muscular Dystrophy Type 1I Nemaline Myopathy Type 11 Nemaline Myopathy Type 3 Otosclerosis 2