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

Autoimmune Disease,Atrial Septal Defect 2

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

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

Brittle Bone Disorder

Enchondroma,Pilomyxoid Astrocytoma,Pilocytic Astrocytoma,Adenocarcinoma In Situ,Pancreatic Cancer

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

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Fibrogenesis Imperfecta Ossium,Greenberg Dysplasia,Melorheostosis,Melorheostosis With Osteopoikilosis,Emery-Dreifuss Muscular Dystrophy,Osteopoikilosis,Acute Inflammation Of Lacrimal Passage,Dacryocystitis,Elastoma,Arteriovenous Malformations Of The Brain,Congenital Muscular Dystrophy-Dystroglycanopathy A7,Axial Osteomalacia,Vertebrobasilar Insufficiency,12q14 Microdeletion Syndrome,Buschke-Ollendorff Syndrome,Muscular Dystrophy, Congenital, Lmna-Related,Pelger-Huet Anomaly,Ornithosis,Hutchinson-Gilford Progeria Syndrome,Cardiomyopathy, Dilated, 1h,Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant,Odontochondrodysplasia,Walker-Warburg Syndrome,Congenital Disorder Of Glycosylation, Type In,Endosteal Hyperostosis, Autosomal Dominant,Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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

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

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

Chromosome 22q11.2 Deletion Syndrome, Distal

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

Cancer-Associated Retinopathy,Patellar Tendinitis

Hepatocellular Carcinoma

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

Psychotic Disorder,Schizoaffective Disorder,Schizophrenia 19,Schizophrenia

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

Ulcerative Blepharitis,Spinal Muscular Atrophy,Salpingitis Isthmica Nodosa

Pontocerebellar Hypoplasia

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

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

Spinocerebellar Ataxia 1,Autosomal Dominant Cerebellar Ataxia,Dentatorubral-Pallidoluysian Atrophy

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

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

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

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

Amyotrophic Lateral Sclerosis 1

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

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

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

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

Systemic Lupus Erythematosus

Porokeratosis

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

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

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

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

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

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

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

Acute Promyelocytic Leukemia,Carnitine-Acylcarnitine Translocase Deficiency

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