Meier-Gorlin Syndrome 4

Locked-In Syndrome,Epidermolysis Bullosa Simplex, Dowling-Meara Type

Leukemia, Chronic Myeloid,Tinea Favosa,Renal Pelvis Adenocarcinoma,Leukemia, Acute Lymphoblastic,Human Immunodeficiency Virus Type 1,Co-Trimoxazole Allergy,Immune Deficiency Disease

Diabetes Insipidus,Diabetes Insipidus, Nephrogenic, Autosomal,Familial Hypocalciuric Hypercalcemia

Myopathy, Centronuclear, 1,Wiskott-Aldrich Syndrome,Pontocerebellar Hypoplasia,Myopathy, Centronuclear, 2,Familial Hypocalciuric Hypercalcemia

Endometrial Cancer,Cowden Syndrome,Plasma Cell Neoplasm,Cowden Syndrome 1,Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi,Nevus, Epidermal,Polymicrogyria,Endometrial Adenocarcinoma,Breast Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,Hydrocephalus,Megalencephaly,Immunodeficiency 14,Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1,Polydactyly,Prostate Cancer,Proteus Syndrome,Erythrocytosis, Familial, 1,Myeloma, Multiple,Lung Cancer

Erythematosquamous Dermatosis,Body Mass Index Quantitative Trait Locus 11

Facioscapulohumeral Muscular Dystrophy 1,Hypotrichosis 13,Myopathy, Spheroid Body,Left Ventricular Noncompaction

Retinitis Pigmentosa,Laryngeal Benign Neoplasm,Ciliary Dyskinesia, Primary, 1,Autosomal Recessive Non-Syndromic Intellectual Disability,Melanoma, Uveal

Pfeiffer Syndrome,Mycobacterium Kansasii,T-Cell Lymphoblastic Leukemia/Lymphoma,Barbiturate Dependence,Sezary'S Disease,Ovarian Cancer,Breast Cancer,Hepatocellular Carcinoma,Hypophosphatasia,Bipolar Disorder,Gastric Cancer,Nephrotic Syndrome, Type 3,Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia,Wiskott-Aldrich Syndrome,Paroxysmal Nocturnal Hemoglobinuria,Tangier Disease,Lung Cancer

Migraine With Or Without Aura 1,Osteogenesis Imperfecta, Type I,Facial Neuralgia,Frontal Sinusitis,Chromosome 1p36 Deletion Syndrome

Behcet Syndrome,B-Cell Adult Acute Lymphocytic Leukemia

Lattice Corneal Dystrophy,Dental Anomalies And Short Stature,Tibial Neuropathy,Tarsal Tunnel Syndrome,Actinomycosis,Narcissistic Personality Disorder,Exhibitionism,Yaws,Stork Bite,Benign Essential Hypertension,Dissociative Disorder,Disease Of Mental Health,Paraphilia Disorder,Epithelial-Stromal Tgfbi Dystrophy

Neutrophilic Dermatosis, Acute Febrile,Pyoderma,Sebaceous Gland Disease,Acne,Pustulosis Of Palm And Sole,Familial Cold Autoinflammatory Syndrome,Periostitis,Psoriatic Juvenile Idiopathic Arthritis,Behcet Syndrome,Arthritis,Pyoderma Gangrenosum,Sweat Gland Disease,Pityriasis Rubra Pilaris,Mevalonic Aciduria,Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne,Erysipeloid,Inflammatory Bowel Disease,Psoriasis 14, Pustular,Wiskott-Aldrich Syndrome,Muckle-Wells Syndrome,Periodic Fever, Familial, Autosomal Dominant,Cinca Syndrome,Familial Mediterranean Fever,Zinc, Elevated Plasma,Pontocerebellar Hypoplasia,Erythema Elevatum Diutinum,Miliaria Pustulosa,Chronic Recurrent Multifocal Osteomyelitis

Megaesophagus,Colorectal Cancer,Sarcoma,Co-Trimoxazole Allergy

Pancreatic Adenocarcinoma,Pfeiffer Syndrome,Hepatitis C,Leukemia, Chronic Myeloid,Hepatitis E,Rasopathy,Hepatitis,Pilocytic Astrocytoma,Skin Granular Cell Tumor,Breast Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Cardiofaciocutaneous Syndrome 1,Pheochromocytoma,Hepatitis C Virus,Noonan Syndrome With Multiple Lentigines,Gastric Cancer,Cone-Rod Dystrophy 2,Prostate Cancer,Wiskott-Aldrich Syndrome,Lung Cancer

Granular Corneal Dystrophy,Phagocyte Bactericidal Dysfunction,Chronic Granulomatous Disease,Anorectal Stricture,Granulomatous Disease, Chronic, Autosomal Recessive, 4,Granulomatous Disease, Chronic, Autosomal Recessive, 3,Granulomatous Disease, Chronic, X-Linked,Corneal Dystrophy, Avellino Type,Epithelial-Stromal Tgfbi Dystrophy

Autosomal Recessive Congenital Cerebellar Ataxia,Huntington Disease,Spinal Muscular Atrophy, Type Iii

Retinitis Pigmentosa 43

Leukemia, Acute Myeloid,Autoimmune Lymphoproliferative Syndrome,Breast Cancer,Aniseikonia,Endocardium Disease

Cystitis,Neovascular Glaucoma,Fuchs' Endothelial Dystrophy,Retinitis Pigmentosa,Acantholytic Acanthoma,Intracranial Embolism,Macular Retinal Edema,Encephalitis,Corneal Endothelial Dystrophy,Vitreous Disease,Brain Edema,Hereditary Spastic Paraplegia,Leber Plus Disease,Cataract,Corneal Dystrophy,Demyelinating Polyneuropathy,Fundus Dystrophy,Corneal Disease,Senile Ectropion,Acute Vascular Insufficiency Of Intestine,Perinatal Necrotizing Enterocolitis,Obstructive Jaundice,Parkinson Disease, Late-Onset,Colorectal Cancer,Interstitial Cystitis,Human Immunodeficiency Virus Type 1,Corneal Edema,Macular Degeneration, Age-Related, 1,Breast Adenocarcinoma,Disease Of Mental Health,Malaria,Spastic Paraplegia 3, Autosomal Dominant,Inflammatory Bowel Disease,Wilms Tumor 1,Autoimmune Disease Of Gastrointestinal Tract,Colitis,Diarrhea 8, Secretory Sodium, Congenital,Celiac Disease 1

Spindle Cell Hemangioma,Otopalatodigital Syndrome Spectrum Disorder,Malignant Peripheral Nerve Sheath Tumor,Frank-Ter Haar Syndrome

Marie Unna Congenital Hypotrichosis,Hypotrichosis,Hypotrichosis 5,Human Granulocytic Anaplasmosis

Squamous Cell Carcinoma,Melanoma,Prion Disease,Hepatitis E,Alcohol Dependence,Alzheimer Disease,Platelet Glycoprotein Iv Deficiency,Combined Immunodeficiency,Focal Segmental Glomerulosclerosis,Human Immunodeficiency Virus Type 1,Pick Disease Of Brain,Disease Of Mental Health,Co-Trimoxazole Allergy,Autoimmune Cardiomyopathy,Schizophrenia,Wiskott-Aldrich Syndrome,Cd45 Deficiency,Lymphoproliferative Syndrome

Breast Cancer

Squamous Cell Carcinoma,Bone Cancer,Polycystic Kidney Disease,Amyotrophic Lateral Sclerosis 1,Prolapse Of Urethra,Shigellosis,Larynx Cancer,Ethmoid Sinus Adenocarcinoma,Breast Cancer,Squamous Cell Carcinoma, Head And Neck,Ethmoid Sinus Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Ampulla Of Vater Adenocarcinoma,Wiskott-Aldrich Syndrome,Bone Squamous Cell Carcinoma,Aarskog-Scott Syndrome,Frank-Ter Haar Syndrome,Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Recurrent Corneal Erosion,Cataract,Schnyder Corneal Dystrophy,Epithelial Recurrent Erosion Dystrophy,Cataract 48,Cataract 44

Lymphopenia,Combined Immunodeficiency,Dendritic Cell Deficiency,Immunodeficiency 19,Immunodeficiency 40,Coronin-1a Deficiency

Erythematosquamous Dermatosis,Exudative Vitreoretinopathy 6,Myopathy, Congenital, Bailey-Bloch

Childhood Pilocytic Astrocytoma,Undetermined Early-Onset Epileptic Encephalopathy,Pilomyxoid Astrocytoma,West Syndrome,Disease Of Mental Health,Gestational Trophoblastic Neoplasm,Avoidant Personality Disorder,Chromosome 3pter-P25 Deletion Syndrome,Early Infantile Epileptic Encephalopathy

Ectodermal Dysplasia,Suppurative Lymphadenitis,Cardiomyopathy, Familial Hypertrophic, 4,Phagocyte Bactericidal Dysfunction,Chronic Granulomatous Disease,Retinitis Pigmentosa 47,Granulomatous Disease, Chronic, Autosomal Recessive, 4,Granulomatous Disease, Chronic, Autosomal Recessive, 1,Granulomatous Disease, Chronic, Autosomal Recessive, 3,Hypertension, Essential,Granulomatous Disease, Chronic, X-Linked,Lung Abscess

Rh Isoimmunization,Blood Group Incompatibility,Otopalatodigital Syndrome Spectrum Disorder,Congenital Autosomal Recessive Small-Platelet Thrombocytopenia,Glucosephosphate Dehydrogenase Deficiency,Thrombocytopenia 3,Hereditary Thrombocytopenia With Normal Platelets,Thrombocytopenia,Melnick-Needles Syndrome

Muscular Dystrophy, Congenital, Lmna-Related,Deafness, Autosomal Recessive 106,Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Ectodermal Dysplasia,Suppurative Lymphadenitis,Splenic Abscess,Malignant Secondary Hypertension,Phagocyte Bactericidal Dysfunction,Chronic Granulomatous Disease,Retinitis Pigmentosa 47,Granulomatous Disease, Chronic, Autosomal Recessive, 4,Granulomatous Disease, Chronic, Autosomal Recessive, 1,Granulomatous Disease, Chronic, Autosomal Recessive, 2,Gastrointestinal Defects And Immunodeficiency Syndrome,Hypertension, Essential,Granulomatous Disease, Chronic, X-Linked,Lung Abscess

Chromosome 1q41-Q42 Deletion Syndrome,Lung Cancer

Spinocerebellar Ataxia, Autosomal Recessive 3,X-Linked Cerebellar Ataxia,Schizophrenia 18,Kohlschutter-Tonz Syndrome,Cardiomyopathy, Dilated, 1p,Spinocerebellar Ataxia, X-Linked 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Vaccinia,Schizophrenia 1,Down Syndrome,Autism Spectrum Disorder,Chromosomal Duplication Syndrome

Pre-Eclampsia,Eclampsia

Congenital Fiber-Type Disproportion,Myopathy,Alzheimer Disease,Myopathy, Centronuclear, 1,Myotonic Dystrophy 1,Breast Cancer,Centronuclear Myopathy,Prostate Cancer,Disease Of Mental Health,Dementia, Lewy Body,Alzheimer Disease 4,Simultanagnosia,Ptosis,Myopathy, Centronuclear, X-Linked,Myopathy, Centronuclear, 2

Lipodystrophy, Congenital Generalized, Type 2,Leber Plus Disease,Pancreatic Acinar Cell Adenocarcinoma,Congenital Disorder Of Glycosylation With Defective Fucosylation 1,Congenital Generalized Lipodystrophy,Congenital Disorder Of Glycosylation, Type In

Disease Of Mental Health,Dentatorubral-Pallidoluysian Atrophy,Wiskott-Aldrich Syndrome,Attention Deficit-Hyperactivity Disorder

Leukemia, Chronic Myeloid,Avian Influenza,Amyotrophic Lateral Sclerosis 1,Chromosome 17p13.3, Centromeric, Duplication Syndrome,Sarcoma,Lissencephaly,Miller-Dieker Lissencephaly Syndrome,Myasthenic Syndrome, Congenital, 19,Newfoundland Rod-Cone Dystrophy

Isolated Agammaglobulinemia,Waardenburg Syndrome, Type 4a,Breast Adenocarcinoma,Immunodeficiency 61,Adrenal Cortical Adenocarcinoma,Agammaglobulinemia, X-Linked

Juvenile Glaucoma,Craniofrontonasal Syndrome,Frank-Ter Haar Syndrome

Speech Disorder,Intracranial Hypotension,Astigmatism,Disease Of Mental Health,Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Primary Mediastinal B-Cell Lymphoma,Leukemia, Chronic Myeloid,Rete Ovarii Adenoma,Indolent Systemic Mastocytosis,Neuroblastoma,Rete Ovarii Benign Neoplasm,Leukemia, Acute Myeloid,Leukemia, Acute Lymphoblastic,Myeloid Leukemia,Burkitt Lymphoma,Sarcoma,Hantavirus Pulmonary Syndrome,Co-Trimoxazole Allergy,Lymphoma, Non-Hodgkin, Familial,Agammaglobulinemia, X-Linked,Mantle Cell Lymphoma,Acute Promyelocytic Leukemia,Cd45 Deficiency,Choreoacanthocytosis,Kaposi Sarcoma,Leukemia, Chronic Lymphocytic,Systemic Lupus Erythematosus,Mastocytosis, Cutaneous,Myelofibrosis

Myopathy,Urethral Stricture,Myofibrillar Myopathy,Emery-Dreifuss Muscular Dystrophy,Epidermolysis Bullosa Simplex,Myopathy, Myofibrillar, 1,Epidermolysa Bullosa Simplex With Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy,Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q,Aplasia Cutis Congenita, Nonsyndromic,Limb-Girdle Muscular Dystrophy,Arrhythmogenic Right Ventricular Dysplasia, Familial, 1,Epidermolysis Bullosa Dystrophica,Familial Woolly Hair Syndrome,Myopathy, Myofibrillar, 2,Dilated Cardiomyopathy,Epidermolysis Bullosa With Pyloric Atresia,Epidermolysis Bullosa,Bullous Skin Disease,Bullous Pemphigoid,Muscular Dystrophy, Congenital, Lmna-Related,Epidermolytic Hyperkeratosis,Pachyonychia Congenita 1,Myopathy, Myofibrillar, 3,Junctional Epidermolysis Bullosa,Myopathy, Myofibrillar, 5,Epidermolysis Bullosa, Junctional, Non-Herlitz Type,Epidermolysis Bullosa Simplex With Muscular Dystrophy,Epidermolysis Bullosa Junctionalis With Pyloric Atresia,Kindler Syndrome,Deficiency Anemia,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17,Congenital Myasthenic Syndrome,Skin Disease,Arrhythmogenic Right Ventricular Cardiomyopathy,Epidermolysis Bullosa Simplex, Dowling-Meara Type,Epidermolysis Bullosa Simplex, Localized,Epidermolysis Bullosa Simplex, Generalized,Epidermolysis Bullosa Simplex, Ogna Type,Epidermolysis Bullosa Simplex With Mottled Pigmentation,Walker-Warburg Syndrome,Epidermolysis Bullosa Simplex With Pyloric Atresia,Epidermolysis Bullosa Simplex With Nail Dystrophy,Autoimmune Disease Of Skin And Connective Tissue,Alexander Disease,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Ptosis,Epithelial And Subepithelial Dystrophy,Epithelial Basement Membrane Dystrophy,Pyloric Atresia

Erythematosquamous Dermatosis,Inflammatory Bowel Disease 9,Alzheimer Disease 14

Acanthosis Nigricans,Dentatorubral-Pallidoluysian Atrophy,Type 2 Diabetes Mellitus

Melanoma,Familial Nephrotic Syndrome,Focal Segmental Glomerulosclerosis,Vaccinia,Agammaglobulinemia 4, Autosomal Recessive,Wiskott-Aldrich Syndrome

B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1,Leukemia

Mitochondrial Dna Depletion Syndrome 12b,Hypertrophic Cardiomyopathy,Lethal Congenital Contracture Syndrome 4,Sjogren-Larsson Syndrome,Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j,Tibial Muscular Dystrophy,Dilated Cardiomyopathy,Three M Syndrome 1,Myopathy, Myofibrillar, 9, With Early Respiratory Failure,Brugada Syndrome,Fibromuscular Dysplasia,Moyamoya Disease 1,Left Ventricular Noncompaction

Bartter Syndrome, Type 1, Antenatal,Fetal Akinesia Deformation Sequence 4,Fetal Akinesia Deformation Sequence 1

Charcot-Marie-Tooth Disease, Demyelinating, Type 1c,Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease,Charcot-Marie-Tooth Disease

Epilepsy,X-Linked Intellectual Disability-Epilepsy Syndrome,Amyotrophic Lateral Sclerosis 1,Disease Of Mental Health,Developmental And Epileptic Encephalopathy 8,Epidermolysis Bullosa Simplex, Dowling-Meara Type,Ritscher-Schinzel Syndrome 2,Early Infantile Epileptic Encephalopathy,Autism Spectrum Disorder,Dravet Syndrome,Ritscher-Schinzel Syndrome,Autism,Hyperekplexia

Differentiating Neuroblastoma,Speech Disorder,Nephronophthisis,Cystic Kidney Disease,Breast Cancer,Malignant Astrocytoma,Colorectal Cancer,Estrogen Resistance,Cerebral Hypoxia,Nephronophthisis 1,Joubert Syndrome 1

Breast Cancer,Colorectal Cancer,Medulloblastoma

Hypokalemic Periodic Paralysis, Type 1,Leukoencephalopathy With Vanishing White Matter,Myopathy, Congenital, Bailey-Bloch

Childhood Pilocytic Astrocytoma,Parkinson Disease, Late-Onset

Cardiomyopathy, Familial Hypertrophic, 26,Congenital Structural Myopathy,Hypertrophic Cardiomyopathy,Familial Isolated Dilated Cardiomyopathy,Dilated Cardiomyopathy,Long Qt Syndrome,Endocardial Fibroelastosis,Myopathy, Spheroid Body,Arrhythmogenic Right Ventricular Dysplasia, Familial, 12,Left Ventricular Noncompaction

Senior-Loken Syndrome 1,Joubert Syndrome 2,Retinitis Pigmentosa,Cakut,Nephronophthisis 14,Nephronophthisis 15,Coach Syndrome 1,Bardet-Biedl Syndrome,Primary Ciliary Dyskinesia,Joubert Syndrome 3,Tubulointerstitial Kidney Disease, Autosomal Dominant, 1,Usher Syndrome Type 2,Juvenile Nephronophthisis,Chronic Kidney Disease,Nephronophthisis,Leber Plus Disease,Oculomotor Apraxia,Retinal Degeneration,Fundus Dystrophy,Nephronophthisis-Like Nephropathy 1,Cystic Kidney Disease,Kidney Disease,Nephronophthisis 2,Eye Disease,Nephronophthisis 16,Orofaciodigital Syndrome Vi,Joubert Syndrome 4,Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease,Nephronophthisis 11,Meckel Syndrome, Type 2,Coloboma Of Macula,Joubert Syndrome 5,Retinal Aplasia,Nephronophthisis 12,Joubert Syndrome 6,Nephronophthisis 9,Nephronophthisis 3,Nephronophthisis 18,Kartagener Syndrome,Meckel Syndrome, Type 4,Joubert Syndrome 10,Nephronophthisis 7,Visceral Heterotaxy,Joubert Syndrome 7,Meckel Syndrome, Type 5,Joubert Syndrome 13,Cranioectodermal Dysplasia,Asphyxiating Thoracic Dystrophy,Nephronophthisis 19,Nephronophthisis 13,Meckel Syndrome, Type 6,Ureterocele,Joubert Syndrome 8,Joubert Syndrome 15,Renal Fibrosis,Caroli Disease,Nephronophthisis 4,Meckel Syndrome, Type 1,Pontine Tegmental Cap Dysplasia,Acrocallosal Syndrome,Joubert Syndrome 24,Meckel Syndrome, Type 3,Apraxia,Cogan Syndrome,Renal-Hepatic-Pancreatic Dysplasia,Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly,Bardet-Biedl Syndrome 1,Nephronophthisis 1,Ocular Motor Apraxia,Joubert Syndrome 1,Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Lymphopenia,Severe Combined Immunodeficiency,Retinitis Pigmentosa,Osteogenesis Imperfecta, Type Xiii,Common Variable Immunodeficiency,T-Cell Lymphoblastic Leukemia/Lymphoma,Epithelial Malignant Thymoma,Leukemia, Acute Myeloid,Leukemia, Acute Lymphoblastic,Combined Immunodeficiency,Autoimmune Disease,Thymus Gland Disease,T-Cell Acute Lymphoblastic Leukemia,Colorectal Cancer,Human Immunodeficiency Virus Type 1,Thymoma,Thymus Cancer,Immunodeficiency 13,Complement Component 7 Deficiency,Cone-Rod Dystrophy 2,Immunodeficiency 17,Osteogenesis Imperfecta, Type Xviii,Immunodeficiency 22,Co-Trimoxazole Allergy,Autoimmune Cardiomyopathy,Lymphoma, Non-Hodgkin, Familial,Aniseikonia,Inflammatory Bowel Disease,Immune Deficiency Disease,Osteogenesis Imperfecta, Type Xvi,Osteogenesis Imperfecta, Type Xvii,Cd45 Deficiency,Leukemia, Chronic Lymphocytic,Systemic Lupus Erythematosus

Trophoblastic Neoplasm,Leukemia, Chronic Myeloid,Taylor'S Syndrome,Capillary Malformation-Arteriovenous Malformation 1,Rasopathy,Parkes Weber Syndrome,Neurofibromatosis, Type I,Arteriovenous Malformations Of The Brain,Basal Cell Carcinoma,Capillary Hemangioma,Neurofibromatosis,Malignant Astrocytoma,Weber Syndrome,Stork Bite,Cardiofaciocutaneous Syndrome 1,Neurilemmomatosis,Basal Cell Carcinoma, Multiple,Noonan Syndrome With Multiple Lentigines,Arteriovenous Malformation,Proteus Syndrome,Basal Cell Carcinoma 1,Sturge-Weber Syndrome,Meningioma, Familial,Cardiovascular Organ Benign Neoplasm,Klippel-Trenaunay-Weber Syndrome,Juvenile Myelomonocytic Leukemia,Venous Malformations, Multiple Cutaneous And Mucosal

Glaucoma, Normal Tension

Immunodeficiency 14,Non-Syndromic X-Linked Intellectual Disability

Congenital Fiber-Type Disproportion,Myopathy,Moebius Syndrome,Neuromuscular Disease,Lagophthalmos,Malignant Hyperthermia Susceptibility,Malignant Hyperthermia,Stac3 Disorder,Familial Periodic Paralysis,Hypokalemic Periodic Paralysis, Type 1,Tukel Syndrome,Leukoencephalopathy With Vanishing White Matter,Central Core Myopathy,Autosomal Recessive Disease,Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset,Ptosis,Congenital Ptosis,Carey-Fineman-Ziter Syndrome,Batten-Turner Congenital Myopathy,Myopathy, Congenital, Bailey-Bloch,Multiple Pterygium Syndrome, Escobar Variant

Optic Nerve Hypoplasia, Bilateral,Open-Angle Glaucoma,Deafness, Autosomal Dominant 23,Glaucoma, Primary Open Angle,Glaucoma, Normal Tension

Speech Disorder,Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation

Pancreatic Adenocarcinoma,Bone Disease,Skin Melanoma,Differentiating Neuroblastoma,Cryptococcal Meningitis,Retinitis Pigmentosa,Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities,Lung Cancer Susceptibility 3,Myopathy,Polycystic Kidney Disease,Leukemia, Chronic Myeloid,Gastroesophageal Adenocarcinoma,Bone Sarcoma,Hepatitis B,Rasopathy,Avian Influenza,Myocardial Infarction,Teeth Hard Tissue Disease,Amelogenesis Imperfecta,Essential Thrombocythemia,Neuroblastoma,Leukemia, Acute Myeloid,Cystic Fibrosis,Bone Marrow Cancer,Leukemia, Acute Lymphoblastic,Agammaglobulinemia,Autonomic Nervous System Neoplasm,Bladder Cancer,Osteoporosis,Ovarian Cancer,Pylorus Cancer,Osteopetrosis,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Diamond-Blackfan Anemia 10,Anaplastic Astrocytoma,Colorectal Cancer,Peripheral Nervous System Disease,Hepatocellular Carcinoma,Human Immunodeficiency Virus Type 1,Noonan Syndrome With Multiple Lentigines,Alzheimer Disease 11,Cherubism,Sarcoma,Skin Carcinoma,Cone-Rod Dystrophy 2,Alzheimer Disease 18,Tetanus,Prostate Cancer,Disease Of Mental Health,Signet Ring Cell Adenocarcinoma,Body Mass Index Quantitative Trait Locus 11,Thrombocytopenia,Lynch Syndrome,Lung Squamous Cell Carcinoma,Agammaglobulinemia, X-Linked,Hypotrichosis 1,Wiskott-Aldrich Syndrome,Maturity-Onset Diabetes Of The Young,Acute Promyelocytic Leukemia,Pulmonary Disease, Chronic Obstructive,Hypertension, Essential,Meningioma, Familial,Frank-Ter Haar Syndrome,Estrogen-Receptor Positive Breast Cancer,Estrogen-Receptor Negative Breast Cancer,Coenzyme Q10 Deficiency, Primary, 1,Amelogenesis Imperfecta, Type Ig,Thrombocytopenia 6,Myelofibrosis,Myeloma, Multiple,Medulloblastoma,Lung Cancer,Pancreatic Cancer,Polycythemia Vera

Comedo Carcinoma

Senior-Loken Syndrome 1,Joubert Syndrome 2,Retinitis Pigmentosa,Coach Syndrome 1,Bardet-Biedl Syndrome,Congenital Hepatic Fibrosis,Primary Ciliary Dyskinesia,Joubert Syndrome 3,Peroxisome Biogenesis Disorder 1b,Juvenile Nephronophthisis,Nephronophthisis,Leber Plus Disease,Oculomotor Apraxia,Fundus Dystrophy,Nephronophthisis 2,Eye Disease,Orofaciodigital Syndrome Vi,Joubert Syndrome 4,Spinocerebellar Ataxia 29,Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease,Familial Adenomatous Polyposis 1,Coloboma Of Macula,Cone-Rod Dystrophy 2,Joubert Syndrome 5,Disease Of Mental Health,Joubert Syndrome 6,Nephronophthisis 9,Kartagener Syndrome,Meckel Syndrome, Type 4,Joubert Syndrome 10,Usher Syndrome,Nephronophthisis 7,Visceral Heterotaxy,Joubert Syndrome 7,Joubert Syndrome 13,Cranioectodermal Dysplasia,Strabismus,Asphyxiating Thoracic Dystrophy,Nephronophthisis 19,Meckel Syndrome, Type 6,Joubert Syndrome 9,Joubert Syndrome 8,Meckel Syndrome, Type 1,Acrocallosal Syndrome,Joubert Syndrome 24,Meckel Syndrome, Type 3,Apraxia,Cogan Syndrome,Ptosis,Congenital Ptosis,Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly,Autism,Nephronophthisis 1,Joubert Syndrome 1,Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Epidermolysis Bullosa Simplex,Epidermolysis Bullosa Simplex With Nail Dystrophy

Tricuspid Valve Stenosis,Deafness, Autosomal Dominant 41,Noonan Syndrome 6,Patent Foramen Ovale,Spinocerebellar Ataxia 6

Tinea Pedis,Lobomycosis,Tinea Manuum,Phaeohyphomycosis,Dermatomycosis

Heart Disease,Childhood Acute Lymphocytic Leukemia,Childhood T-Cell Acute Lymphoblastic Leukemia,Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement,Chronic Neutrophilic Leukemia,Melanoma,Chronic Eosinophilic Leukemia,Leukemia, Chronic Myeloid,B-Lymphoblastic Leukemia/Lymphoma,B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1,B-Lymphoblastic Leukemia/Lymphoma With Hypodiploidy,B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like,B-Lymphoblastic Leukemia/Lymphoma With Iamp21,Lung Large Cell Carcinoma,Blood Platelet Disease,Essential Thrombocythemia,Myeloproliferative Neoplasm,Testicular Leukemia,Philadelphia-Negative Chronic Myeloid Leukemia,Leukemia,Mixed Phenotype Acute Leukemia,Myelophthisic Anemia,Blood Coagulation Disease,Hypereosinophilic Syndrome,Childhood Leukemia,Leukemia, Acute Myeloid,Bone Marrow Cancer,Myelodysplastic/Myeloproliferative Neoplasm,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Moyamoya Angiopathy,Polycythemia,Leiomyomatosis,Central Nervous System Leukemia,Precursor T-Cell Acute Lymphoblastic Leukemia,Acquired Polycythemia,T-Cell Prolymphocytic Leukemia,Chronic Leukemia,Cockayne Syndrome,Prolymphocytic Leukemia,Lip And Oral Cavity Cancer,Ovarian Cancer,Myeloid Leukemia,T-Cell Acute Lymphoblastic Leukemia,Adult Acute Lymphocytic Leukemia,Breast Cancer,Colorectal Cancer,Congenital Heart Defects And Skeletal Malformations Syndrome,Deficiency Anemia,Leukemia, Acute Lymphoblastic 3,Retinoblastoma,Mental Retardation, Autosomal Dominant 29,Myelodysplastic Syndrome,Mental Retardation, Autosomal Dominant 33,Gastrointestinal Stromal Tumor,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Wilms Tumor 1,Leukemia, Chronic Lymphocytic,Dermatofibrosarcoma Protuberans,Ataxia-Telangiectasia,B-Cell Adult Acute Lymphocytic Leukemia,Atypical Chronic Myeloid Leukemia,Polycythemia Vera

Nephrotic Syndrome, Type 2,Polycystic Kidney Disease,Nephrotic Syndrome,Galloway-Mowat Syndrome,Nail-Patella Syndrome,Glomerular Disease,Oligomeganephronia,End Stage Renal Disease,Genetic Steroid-Resistant Nephrotic Syndrome,Familial Nephrotic Syndrome,Focal Segmental Glomerulosclerosis,Pierson Syndrome,Kidney Disease,Iga Glomerulonephritis,Focal Segmental Glomerulosclerosis 5,Lipoid Nephrosis,Alport Syndrome,Focal Segmental Glomerulosclerosis 1,Disease Of Mental Health,Focal Segmental Glomerulosclerosis 2,Focal Segmental Glomerulosclerosis 6,Frasier Syndrome,Alzheimer Disease 4,Wilms Tumor 1,Denys-Drash Syndrome,Membranous Nephropathy,Focal Segmental Glomerulosclerosis 3,Nephrotic Syndrome, Type 1

Double Outlet Right Ventricle,Leukemia, Chronic Myeloid,Acneiform Dermatitis,Chromosome 22q11.2 Duplication Syndrome,Leukemia, Acute Lymphoblastic,Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome,Sarcoma,Papillary Thyroid Microcarcinoma,Chromosome 22q11.2 Deletion Syndrome, Distal,Tetralogy Of Fallot,Digeorge Syndrome,Velocardiofacial Syndrome,Acute Promyelocytic Leukemia,Myasthenic Syndrome, Congenital, 19,Chromosomal Deletion Syndrome,Van Den Ende-Gupta Syndrome

Familial Thyroid Dyshormonogenesis,Thyroid Dyshormonogenesis 3,Cd3zeta Deficiency