Charge Syndrome,Thymus Lymphoma,Microcephaly,Coloboma Of Macula,Verheij Syndrome,Xeroderma Pigmentosum, Complementation Group B,Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities

Primary Optic Atrophy,Heinz Body Anemias

Amyotrophic Lateral Sclerosis 1,Feingold Syndrome 1,Intestinal Atresia,Pancreas, Annular,Vacterl Association,Gastrointestinal Defects And Immunodeficiency Syndrome,Pallister-Hall Syndrome,Microphthalmia, Syndromic 3,Anus, Imperforate

Optic Nerve Disease,Ocular Hypertension,Hordeolum,Retinal Ischemia,Optic Nerve Hypoplasia, Bilateral

Amyotrophic Lateral Sclerosis 1

Retinitis Pigmentosa,Endometrial Stromal Sarcoma,Spinocerebellar Ataxia 1,Frontotemporal Dementia

Spinal Muscular Atrophy,Bladder Clear Cell Adenocarcinoma,Contagious Pustular Dermatitis,Laryngotracheitis

Follicular Adenoma,Ulcerative Blepharitis,Chromosome 4q21 Deletion Syndrome

Muscular Disease,Myopathy,Muscle Tissue Disease,Neuromuscular Disease,Autosomal Dominant Distal Myopathy,Muscular Dystrophy,Noonan Syndrome 1,Oculopharyngeal Muscular Dystrophy,Influenza,Dysphagia,Hand-Foot-Genital Syndrome,Partington X-Linked Mental Retardation Syndrome,Ptosis,Central Hypoventilation Syndrome, Congenital,Frontotemporal Dementia

Autoimmune Disease,Atrial Septal Defect 2

Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia,Lattice Corneal Dystrophy,Tremor, Hereditary Essential, 4,Amyotrophic Lateral Sclerosis 18,Supranuclear Palsy, Progressive, 1,Retinitis Pigmentosa,Anal Carcinoma In Situ,Amyotrophic Lateral Sclerosis 11,Clear Cell Sarcoma,Tremor,Dedifferentiated Liposarcoma,Myxofibrosarcoma,Neuromuscular Disease,Fibrous Histiocytoma,Connective Tissue Cancer,Progressive Bulbar Palsy,Pica Disease,Dysgraphia,Nominal Aphasia,Extraosseous Chondrosarcoma,Amyotrophic Lateral Sclerosis 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Ideomotor Apraxia,Giant Axonal Neuropathy 2,Amyotrophic Lateral Sclerosis 8,Lateral Sclerosis,Spinal Muscular Atrophy,Motor Neuron Disease,Movement Disease,Muscular Atrophy,Locked-In Syndrome,Essential Tremor,Multisystem Proteinopathy,Synovium Cancer,Dementia,Cerebellar Disease,Juvenile Amyotrophic Lateral Sclerosis,Chondroid Lipoma,Dystonia,Myeloid Leukemia,Tremor, Hereditary Essential, 2,Well-Differentiated Liposarcoma,Cellular Myxoid Liposarcoma,Pediatric Liposarcoma,Pleomorphic Liposarcoma,Mixed Liposarcoma,Sclerosing Liposarcoma,Amyotrophic Lateral Sclerosis 4, Juvenile,Speech And Communication Disorders,Progressive Muscular Atrophy,Kidney Fibrosarcoma,Rhabdomyosarcoma,Pick Disease Of Brain,Myxoid Liposarcoma,Autosomal Dominant Cerebellar Ataxia,Sarcoma,Fibrosarcoma,Liposarcoma,Disease Of Mental Health,Dentatorubral-Pallidoluysian Atrophy,Dermatopathia Pigmentosa Reticularis,Dementia, Lewy Body,Hemochromatosis, Type 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4,Sarcoma, Synovial,Spinocerebellar Ataxia 2,Tremor, Hereditary Essential, 3,Amyotrophic Lateral Sclerosis 21,Amyotrophic Lateral Sclerosis 9,Alzheimer Disease 7,Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia,Tremor, Hereditary Essential, 1,Ewing Sarcoma,Amyotrophic Lateral Sclerosis 16, Juvenile,Chondrosarcoma, Extraskeletal Myxoid,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3,Epilepsy, Familial Temporal Lobe, 8,Fragile X-Associated Tremor/Ataxia Syndrome,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Autism Spectrum Disorder,Aphasia,Writing Disorder,Associative Agnosia,Amyotrophic Lateral Sclerosis Type 6,Amyotrophic Lateral Sclerosis Type 12,Amyotrophic Lateral Sclerosis Type 14,Lipomatosis, Multiple,Amyotrophic Lateral Sclerosis Type 22,Epithelial-Stromal Tgfbi Dystrophy,Spinal And Bulbar Muscular Atrophy, X-Linked 1,Frontotemporal Dementia,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Acute Promyelocytic Leukemia,Carnitine-Acylcarnitine Translocase Deficiency

Chondrosarcoma,Extraskeletal Mesenchymal Chondrosarcoma,Extraosseous Chondrosarcoma,Amyotrophic Lateral Sclerosis 1,Acute Leukemia,Intracranial Chondrosarcoma,Multisystem Proteinopathy,Lung Sarcoma,Myxoid Chondrosarcoma,Liposarcoma,Ewing Sarcoma,Chondrosarcoma, Extraskeletal Myxoid,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4,Bone Chondrosarcoma

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Gastrointestinal Neuroendocrine Benign Tumor,Spleen Cancer,Gastric Neuroendocrine Neoplasm,Breast Liposarcoma,Wolfram Syndrome 2,Mullegama-Klein-Martinez Syndrome,Chromosome 1p36 Deletion Syndrome

Systemic Scleroderma,Facial Hemiatrophy,Dyskinesia Of Esophagus,Connective Tissue Disease,Splenic Tuberculosis,Telangiectasis,Collagen Disease,Lupus Erythematosus,Childhood Type Dermatomyositis,Mixed Connective Tissue Disease,Limited Scleroderma,Diffuse Scleroderma,Raynaud Disease,Heart Block, Congenital,Hypotrichosis 13,Pericardium Disease,Autoimmune Disease Of Exocrine System,Crest Syndrome,Systemic Lupus Erythematosus,Syndromic X-Linked Intellectual Disability Cabezas Type

Endometrial Stromal Sarcoma,Myopathy,Congenital Lymphedema,Myotonic Disease,Myotonic Dystrophy 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Spinocerebellar Ataxia 8,Atrial Septal Defect 1,Endometrial Stromal Tumor,Precursor T-Cell Acute Lymphoblastic Leukemia,Myotonic Dystrophy 2,Congenital Myasthenic Syndrome,Dermatopathia Pigmentosa Reticularis,Hereditary Lymphedema,Mental Retardation, X-Linked, Syndromic, Bain Type

Variola Minor,Cone-Rod Dystrophy 2,Hemolytic Uremic Syndrome, Atypical 1

Dyslexia,Childhood Kidney Cell Carcinoma,Parkinson Disease, Late-Onset,Pick Disease Of Brain,Perivascular Tumor,Renal Cell Carcinoma, Papillary, 1,Renal Cell Carcinoma, Xp11-Associated,Frontotemporal Dementia

Retinitis Pigmentosa,Endometrial Stromal Sarcoma,Extraosseous Ewing Sarcoma,Clear Cell Sarcoma,Spindle Cell Sarcoma,Chondrosarcoma,Rhabdomyosarcoma 2,Sarcomatoid Basal Cell Carcinoma,Malignant Fibrous Histiocytoma,Melanoma,Rare Tumor,Cerebellar Angioblastoma,Dedifferentiated Liposarcoma,Myxofibrosarcoma,Bladder Sarcoma,Melanoma Of Soft Tissue,Bone Epithelioid Hemangioma,Fibrous Histiocytoma,Peripheral Nervous System Neoplasm,Connective Tissue Cancer,Bone Sarcoma,Desmoplastic Small Round Cell Tumor,Constipation,Vulvar Sarcoma,Mucoepidermoid Carcinoma,Extraskeletal Mesenchymal Chondrosarcoma,Extraosseous Chondrosarcoma,Atypical Teratoid Rhabdoid Tumor,Astroblastoma,Intracranial Primitive Neuroectodermal Tumor,Neurofibromatosis, Type I,Sarcomatosis,Neuroblastoma,Myoepithelial Carcinoma,Cauda Equina Neoplasm,Childhood Malignant Schwannoma,Kidney Clear Cell Sarcoma,Middle Ear Carcinoma,Thymus Clear Cell Carcinoma,Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor,Essential Tremor,Central Nervous System Mesenchymal Non-Meningothelial Tumor,Congenital Fibrosarcoma,Autonomic Nervous System Neoplasm,Myoepithelioma,Endometrial Stromal Tumor,Sweat Gland Benign Neoplasm,Synovium Cancer,Small Intestinal Sarcoma,Bladder Leiomyoma,Extraskeletal Ewing Sarcoma,Lung Sarcoma,Endobronchial Lipoma,Cranial Nerve Malignant Neoplasm,Ring Chromosome,Biphasic Synovial Sarcoma,Epithelioid Cell Synovial Sarcoma,Well-Differentiated Liposarcoma,Cellular Myxoid Liposarcoma,Pleomorphic Liposarcoma,Peripheral Nervous System Disease,Small Cell Sarcoma,Sweat Gland Disease,Myxoid Chondrosarcoma,Skin Benign Neoplasm,Kidney Fibrosarcoma,Embryonal Rhabdomyosarcoma,Rhabdomyosarcoma,Orbit Rhabdomyosarcoma,Myxoid Liposarcoma,Myasthenic Syndrome, Congenital, 5,Sarcoma,Mesenchymal Cell Neoplasm,Fibrosarcoma,Localized Osteosarcoma,Ewing Sarcoma Of Bone,Bone Osteosarcoma,Small Cell Osteogenic Sarcoma,Conventional Central Osteosarcoma,Cranial Nerve Neoplasm,Liposarcoma,Pediatric Fibrosarcoma,Congenital Myasthenic Syndrome,Olfactory Nerve Neoplasm,Rhabdoid Cancer,Kidney Rhabdoid Cancer,Olfactory Neuroblastoma,Extracranial Neuroblastoma,Extraskeletal Chondroma,Skeletal Muscle Cancer,Muscle Cancer,Sarcoma, Synovial,Askin'S Tumor,Ewing Sarcoma,Chondrosarcoma, Extraskeletal Myxoid,Cervical Neuroblastoma,Wilms Tumor 1,Connective Tissue Benign Neoplasm,Lipomatosis, Multiple

Atrial Septal Defect 1,Optic Nerve Neoplasm,Autism

Amyotrophic Lateral Sclerosis 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Blood Platelet Disease,Endometrial Mixed Adenocarcinoma,Blood Coagulation Disease,Orofaciodigital Syndrome X,Thrombocytopenia-Absent Radius Syndrome,Thoracic Outlet Syndrome,Usher Syndrome, Type I,Microcephaly,Pick Disease Of Brain,Disease Of Mental Health,Thrombocytopenia,Amegakaryocytic Thrombocytopenia, Congenital,Dystonia 16,Holt-Oram Syndrome,Cardiomyopathy, Dilated, 1m

Diffuse Glomerulonephritis,Epidermolysis Bullosa, Junctional, Herlitz Type,Hemolytic Uremic Syndrome, Atypical 1,Coffin-Siris Syndrome 1,Arthrogryposis Multiplex Congenita 2, Neurogenic Type

Heart Disease,Small Intestine Neuroendocrine Neoplasm,Small Intestine Benign Neoplasm,Renal Cell Carcinoma, Papillary, 1,Renal Cell Carcinoma, Xp11-Associated,Mental Retardation, X-Linked, Syndromic 34,Syndromic Intellectual Disability

Achalasia-Addisonianism-Alacrima Syndrome,Seminal Vesicle Tumor,Male Reproductive Organ Benign Neoplasm,Lethal Congenital Contracture Syndrome 1

Cancer-Associated Retinopathy,Patellar Tendinitis

Motor Neuron Disease,Rift Valley Fever,Waardenburg Syndrome, Type 4b,Myotonic Dystrophy 2,Waardenburg Syndrome, Type 4a,Autosomal Dominant Cerebellar Ataxia,Disease Of Mental Health,Dengue Virus

Articulation Disorder,Speech Disorder,Mucolipidosis,Tibial Neuropathy,Dyslexia,Tarsal Tunnel Syndrome,Vestibulocochlear Nerve Disease,Vestibular Neuronitis,Osteochondrosis,Mucopolysaccharidosis Iii,Mucopolysaccharidosis-Plus Syndrome,Gnptab-Related Disorders,Gm2-Gangliosidosis, Ab Variant,Gingival Hypertrophy,Disseminated Chorioretinitis,Benign Essential Hypertension,Mucolipidoses,Deficiency Anemia,46,Xy Sex Reversal 7,Osteogenesis Imperfecta, Type Vii,Scheuermann Disease,Autosomal Recessive Disease,Hurler Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2v,Her2-Receptor Positive Breast Cancer,Stuttering,Legg-Calve-Perthes Disease,Mucolipidosis Ii Alpha/Beta,Mucolipidosis Iii Alpha/Beta,Mucolipidosis Iii Gamma,Mucopolysaccharidosis, Type Iiia

Colon Small Cell Carcinoma,Pineal Region Germinoma,B-Cell Adult Acute Lymphocytic Leukemia

Diamond-Blackfan Anemia,Ulnar-Mammary Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability,Autosomal Dominant Non-Syndromic Intellectual Disability 1

Narcolepsy

Retinitis Pigmentosa,Myotonic Dystrophy 1,Paraneoplastic Neurologic Disorders,Pontocerebellar Hypoplasia, Type 7,Spinal Muscular Atrophy,Motor Neuron Disease,Muscular Atrophy,Neuroblastoma,Sensory Peripheral Neuropathy,Hallucinogen Abuse,Atrial Septal Defect 1,Cone-Rod Dystrophy 6,Parkinson Disease, Late-Onset,Hyperinsulinemic Hypoglycemia, Familial, 4,Disease Of Mental Health,Retinitis Pigmentosa 49,Scalp-Ear-Nipple Syndrome,Fragile X Syndrome,Lambert-Eaton Myasthenic Syndrome,Lung Cancer

Chromosome 22q11.2 Deletion Syndrome, Distal

Hepatocellular Carcinoma

Sarcoma,Dermatopathia Pigmentosa Reticularis,Systemic Lupus Erythematosus

Lattice Corneal Dystrophy,Endometrial Stromal Sarcoma,Myopathy,Amyotrophic Lateral Sclerosis 1,T-Cell Lymphoblastic Leukemia/Lymphoma,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Lateral Sclerosis,Spinal Muscular Atrophy,Motor Neuron Disease,Autosomal Dominant Limb-Girdle Muscular Dystrophy,Muscular Dystrophy,Muscular Atrophy,Relapsing-Remitting Multiple Sclerosis,Atrial Septal Defect 1,Human T-Cell Leukemia Virus Type 2,Endometrial Stromal Tumor,Oculopharyngeal Muscular Dystrophy,Multisystem Proteinopathy,Dementia,Paget'S Disease Of Bone,Burkitt Lymphoma,Colorectal Cancer,Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3,Amyotrophic Lateral Sclerosis 20,Disease Of Mental Health,Dermatopathia Pigmentosa Reticularis,Multiple Sclerosis,Spinocerebellar Ataxia 2,Immune Deficiency Disease,Secondary Progressive Multiple Sclerosis,Fragile X-Associated Tremor/Ataxia Syndrome,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Inflammatory Myofibroblastic Tumor,Epithelial-Stromal Tgfbi Dystrophy,Frontotemporal Dementia

Malignant Exocrine Pancreas Neoplasm,Atrial Heart Septal Defect,Skin Angiosarcoma,Colorectal Cancer,Microcephaly,Fanconi Anemia, Complementation Group A,Disease Of Mental Health,Renal Cell Carcinoma, Papillary, 1,Tarp Syndrome,Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Neuromuscular Disease,Myotonic Disease,Myotonic Dystrophy 1,Neurofibromatosis, Type I,Muscular Dystrophy,Myotonic Dystrophy,Spinocerebellar Ataxia 8,Oculopharyngeal Muscular Dystrophy,Myotonic Dystrophy 2,Lens Disease,Autosomal Dominant Cerebellar Ataxia,Disease Of Mental Health,Fragile X Syndrome,Huntington Disease-Like 2,Fragile X-Associated Tremor/Ataxia Syndrome,X-Linked Hereditary Ataxia,Spinal And Bulbar Muscular Atrophy, X-Linked 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria,Ivic Syndrome,Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

Theileriasis,Spermatogenic Failure, X-Linked, 1

Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies,Epilepsy,Nasal Cavity Benign Neoplasm,Myopathy, Centronuclear, 1,Malt Worker'S Lung,Prostate Squamous Cell Carcinoma,Primary Hyperoxaluria,Microcephaly,Kleefstra Syndrome 2,Disease Of Mental Health,Schizophrenia,Epilepsy, Early-Onset, With Or Without Developmental Delay,Kabuki Syndrome 1,Hyperinsulinemic Hypoglycemia, Familial, 1

Acth-Secreting Pituitary Adenoma,Cryptorchidism, Unilateral Or Bilateral

Connective Tissue Disease,Autoimmune Disease,Neuropathy, Hereditary Sensory And Autonomic, Type Iib,Mixed Connective Tissue Disease,Syndromic Intellectual Disability,Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Endometrial Stromal Sarcoma,Spinal Muscular Atrophy,Muscular Atrophy,Endometrial Stromal Tumor,Frontotemporal Dementia

Follicular Adenoma,Retinitis Pigmentosa,Myopathy,Myotonic Dystrophy 1,Cervical Non-Keratinizing Squamous Cell Carcinoma,Periampullary Adenocarcinoma,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Juvenile Polyposis Syndrome,Disease Of Mental Health,Retinitis Pigmentosa 49,Scalp-Ear-Nipple Syndrome,Renal Cell Carcinoma, Nonpapillary

Fanconi Anemia, Complementation Group A

Psychotic Disorder,Schizoaffective Disorder,Schizophrenia 19,Schizophrenia

Mouth Disease

Connective Tissue Disease,Parainfluenza Virus Type 3,Sjogren Syndrome,Growth Hormone Deficiency,Mixed Connective Tissue Disease,Limited Scleroderma,Isolated Growth Hormone Deficiency, Type V,Systemic Lupus Erythematosus,Isolated Growth Hormone Deficiency,Microcephalic Osteodysplastic Primordial Dwarfism, Type I,Isolated Growth Hormone Deficiency, Type Ia

Diabetes Mellitus,Wolfram Syndrome 1,Testicular Cancer,Wolfram Syndrome,Hepatocellular Carcinoma,Type 2 Diabetes Mellitus,Maturity-Onset Diabetes Of The Young

Gastrointestinal Lymphoma,Lymphomatoid Granulomatosis,Lymphomatoid Papulosis,Lethal Midline Granuloma,Viral Esophagitis,Myopathy,B-Cell Lymphoma,Amyotrophic Lateral Sclerosis 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Spinal Muscular Atrophy,Motor Neuron Disease,Orbit Lymphoma,Rhinosporidiosis,Angioimmunoblastic T-Cell Lymphoma,Leber Plus Disease,Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia,Multisystem Proteinopathy,Dementia,Breast Lipoma,Reticulosarcoma,Sezary'S Disease,Aggressive Nk-Cell Leukemia,T-Cell Adult Acute Lymphocytic Leukemia,Giardiasis,Composite Lymphoma,Pediatric Lymphoma,Nasal Cavity Lymphoma,Primary Cutaneous Anaplastic Large Cell Lymphoma,Hepatosplenic T-Cell Lymphoma,Disease Of Mental Health,Panniculitis,Skin Disease,Welander Distal Myopathy,Erythema Multiforme,Lymphoma, Hodgkin, Classic,Lymphocytic Gastritis,Parasitic Ichthyosporea Infectious Disease,Mature T-Cell And Nk-Cell Lymphoma,Anaplastic Large Cell Lymphoma,Peripheral T-Cell Lymphoma,Lymphoma,Cutaneous T Cell Lymphoma,Lichen Sclerosus Et Atrophicus,Mycosis Fungoides,Lymphoproliferative Syndrome,Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood,Frontotemporal Dementia,Celiac Disease 1

Dysostosis,Synostosis,Burn-Mckeown Syndrome,Phocomelia,Radioulnar Synostosis,Charcot-Marie-Tooth Disease X-Linked Recessive 4,Hereditary Hearing Loss And Deafness,Usher Syndrome, Type Iia,Cerebrocostomandibular Syndrome,Cleft Palate, Isolated,Mandibulofacial Dysostosis, Guion-Almeida Type,Ehlers-Danlos Syndrome, Classic Type, 1,Humeroradial Synostosis,Acrofacial Dysostosis Syndrome Of Rodriguez,Acrofacial Dysostosis,Acrofacial Dysostosis 1, Nager Type,Treacher Collins Syndrome 1,Postaxial Acrofacial Dysostosis

Diamond-Blackfan Anemia 4,Premature Menopause,Disease Of Mental Health,Scalp-Ear-Nipple Syndrome,Fragile X Syndrome

Breast Adenomyoepithelioma,Large Cell Acanthoma,Pilar Sheath Acanthoma,Breast Myoepithelial Neoplasm,Angioma Serpiginosum,Desmoid Disease, Hereditary

Ulcerative Blepharitis,Spinal Muscular Atrophy,Salpingitis Isthmica Nodosa

Pontocerebellar Hypoplasia

Childhood Absence Epilepsy,Ischemic Neuropathy,Myotonic Disease,Myotonic Dystrophy 1,Neuroblastoma,Spinal And Bulbar Muscular Atrophy, X-Linked 1

Endometrial Stromal Sarcoma,Myopathy,Bulbar Polio,Atrial Septal Defect 1,Human T-Cell Leukemia Virus Type 2,Patellar Tendinitis,Congenital Myasthenic Syndrome,Mouth Disease,Paralytic Poliomyelitis,Atrial Septal Defect 2,Frontotemporal Dementia

Porokeratosis

Brittle Bone Disorder