Genes?

Curated: Attention deficit hyperactivity disorder, Differentiated thyroid carcinoma, Chromosome 12p deletion syndrome, Diverticular disease, Peptic ulcer disease, Squamous cell carcinoma, Urethral disease, Urinary system disease

Unreviewed: Alzheimer disease, Apraxia, Autism Spectrum Disorder, Complete Hydatidiform Mole, Distal Monosomy 12p, Language development disorders, Leukemia, Neoplasms, Nervous System Disorder, Papillary thyroid carcinoma, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Vulval varices

Curated: N/A

Unreviewed: N/A

Curated: Alzheimer disease, Attention deficit hyperactivity disorder, Bipolar disorder, Cannabis abuse, Lymphoblastic leukemia, Obstructive pulmonary disease, Dementia, Gastritis, Gastroesophageal reflux disease, Major depressive disorder, Osteoarthritis, Ovarian serous carcinoma, Periodontitis, Schizophrenia, Scoliosis, Substance abuse, Tourette syndrome

Unreviewed: Amyotrophic Lateral Sclerosis, Angular cheilitis, Ankylosing Spondylitis, Anxiety Disorder, Arteriosclerosis, Arthritis, Atherosclerosis, Autism, Bone disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cardiomyopathy, Cognitive disorder, Colitis, Colonic Neoplasms, Colorectal Cancer, Congestive Heart Failure, Connective Tissue Disease, Cyst, Cystic Fibrosis, Dermatomyositis, Diabetes Mellitus, Epilepsy, Glioblastoma, Glioma, Glomerulonephritis, Heart Failure, Huntington Disease, Hypercholesterolemia, Hypertension, Impaired Cognition, Inflammatory Bowel Disease, Keratoconus, Keratosis, Laryngeal carcinoma, Laryngeal neoplasm, Larynx cancer, Lissencephaly, Liver carcinoma, Liver cirrhosis, Liver failure, Liver neoplasms, Lung adenocarcinoma, Lung carcinoma, Lupus Erythematosus, Lupus Vulgaris, Lymphoblastic Leukemia, Machado-Joseph Disease, Malignant Neoplasm, Melanoma, Mental Depression, Motor Neuron Disease, Multiple Sclerosis, Myelodysplastic Syndrome, Myeloid leukemia, Myocardial Infarction, Nasopharyngeal Carcinoma, Neoplasms, Nephritis, Nervous System Disorder, Neuroblastoma, Neurodegenerative Disorders, Obesity, Onycholysis, Optic Atrophy, Osteomyelitis, Ovarian cancer, Ovarian neoplasm, Palmoplantar keratoderma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Parkinson disease, Peeling skin syndrome, Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads, Psoriasis, Pulmonary Fibrosis, Renal cell carcinoma, Retinal Diseases, Rheumatoid arthritis, Scleroderma, Seizures, Senile Plaques, Skin Lesion, Small cell carcinoma, Splenic Neoplasms, Stomach Carcinoma, Stomach Neoplasms, Subarachnoid hemorrhage, Tauopathies, Urinary bladder neoplasms, Vasculitis, Wiskott-Aldrich Syndrome, Xerocytosis, Zimmerman Laband Syndrome

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Alzheimer disease, Anemia, Azoospermia, Non-small-cell lung carcinoma, Cerebrooculofacioskeletal syndrome, Cholestasis, Cockayne syndrome, Hyperlipidemia, Gastroesophageal reflux disease, Genetic predisposition to disease, Kidney failure, Lung neoplasms, Melanoma, Myopathy, Nasopharyngeal carcinoma, Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy, Stomach neoplasms, Testicular neoplasms, Transient ischemic attack, Uterine neoplasms, Xeroderma pigmentosum

Unreviewed: Acquired Kyphoscoliosis, Actinic keratosis, Adenocarcinoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Anaplastic Astrocytoma, Anterior uveitis, Anxiety disorder, Aplasia Cutis Congenita, Arsenic Encephalopathy, Arthritis, Arthrogryposis multiplex congenita, B-Cell Lymphoma, Benign Neoplasm, Biliary Tract Cancer, Biliary tract neoplasms, Bladder carcinoma, Bladder Neoplasm, Blepharophimosis, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Carcinoma Of The Head And Neck, Cataract, Central nervous system neoplasm, Central Nervous System Neoplasms, Cerebellar Hypoplasia, Cerebral cortical atrophy, Cerebrooculofacioskeletal Syndrome, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Chronic Obstructive Pulmonary Disease, Cockayne Syndrome, COFS Syndrome, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Chromosomal Disease, Congenital heart defect, Congenital kyphoscoliosis, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Deglutition disorder, Dementia, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetic Retinopathy, Diarrhea, Dislocated radial head, Ductal Carcinoma, Ductal carcinoma of breast, Dwarfism, Embryonal Neoplasm, Endometrial Cancer, Endometrial carcinoma, Endometrial Neoplasms, Endometriosis, Ependymoma, Epileptic Encephalopathy, Epithelial ovarian carcinoma, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Fanconi Anemia, Fatty Liver, Follicular Thyroid Carcinoma, Gastric Cancer, Gastritis, Gastrointestinal disease, Gemistocytic Astrocytoma, Glioblastoma, Glioma, Glycogen storage disease, Graft-versus-host disease, Growth disorder, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Hearing Loss, Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatitis b, Hepatoblastoma, Hepatocellular carcinoma, Hereditary Pancreatitis, Hirschsprung Disease, Hypogonadism, Hypoxia, Ichthyosis, Intervertebral Disc Disorder, Kidney Disease, Laryngeal Carcinoma, Laryngeal neoplasm, Larynx cancer, Leiomyosarcoma, Leukemia, Leukopenia, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Neoplasms, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Major depressive disorder, Malignant gastrointestinal tract tumors, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Oropharynx, Malignant Neoplasm Of Testis, Malignant testicular germ cell tumor, Mesothelioma, Metabolic syndrome, Metastatic Prostate Carcinoma, Microcephaly, Micrognathism, Microphthalmos, Mixed Phenotype Leukemia, Multiple Trichoepithelioma, Myelodysplastic Syndrome, Myelomonocytic Leukemia, Myotonic dystrophy, Nasopharyngeal Cancer, Nasopharyngeal Neoplasms, Nausea, Neoplasm, Neoplasms, Nervous system disease, Nervous System Diseases, Neuroblastoma, Neuropathy, Neutropenia, Niemann-Pick Disease, Nystagmus, Oculocerebrorenal syndrome, Opitz GBBB Syndrome, X-Linked, Optic Atrophy, Oral cavity carcinoma, Oropharyngeal Carcinoma, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Paresthesia, Pena Shokeir syndrome, Penile neoplasm, Peritoneal Carcinoma, Polymicrogyria, Progeria, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Rectal Carcinoma, Rectal Neoplasms, Rhabdoid tumor predisposition syndrome, Rhinitis, Sarcoma, Seizure, Sick sinus syndrome, Skin cancer, Skin carcinoma, Skin Lesion, Small cell carcinoma, Small cell lung carcinoma, Squamous cell carcinoma, Steroid Sulfatase Deficiency Disease, Stevens-Johnson Syndrome, Stomach Carcinoma, Stomach Neoplasms, Stomatitis, Talipes, Teratoma, Testicular Diseases, Testicular germ cell tumor, Testicular neoplasm, Testicular Neoplasms, Thrombocytopenia, Thymic Carcinoma, Thymus Neoplasms, Thyroid Hormone Metabolism, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tumor, Tumor of Rete Testis, Turcot syndrome, Tyrosinemia, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Uterine cervix neoplasm, Uterine neoplasm, Vertical Talus, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, Werner Syndrome, Xeroderma Pigmentosum, Xfe progeroid syndrome

Curated: Alzheimer disease, Squamous cell carcinoma, Cerebrooculofacioskeletal syndrome, Ischemic heart disease, Colorectal neoplasms, Congenital skin anomaly, Congenital nonbullous ichthyosiform erythroderma, Coronary artery disease, Crohn disease, Dermatologic disorder, Gastroesophageal reflux disease, Hypotrichosis simplex, Leukodystrophy, Lung cancer, Macular degeneration, Myocardial ischemia, Occupational disease, Prostatic neoplasms, Sarcoma, Senile cataract, Skin abnormalities, Skin disease, Skin neoplasms, Stomach neoplasms, Trichothiodystrophy, Urinary bladder neoplasms, Xeroderma pigmentosum, Xeroderma pigmentosum-cockayne syndrome, xeroderma pigmentosum group D

Unreviewed: Ablepharon macrostomia syndrome, Acquired Kyphoscoliosis, Acute Myeloid Leukemia, Adenocarcinoma, Adenoid cystic carcinoma, Adenoma, Adenomatous Polyposis, Age-related macular degeneration, Alopecia, Anemia, Angle closure glaucoma, Anxiety disorder, Arteriosclerosis, Arthrogryposis multiplex congenita, Asthma, Astigmatism, Autism spectrum disorder, Azoospermia, B-Cell Lymphoma, Barrett esophagus, Basal cell carcinoma, Benign Neoplasm Of Bladder, Bladder carcinoma, Bladder Neoplasm, Bone disease, Bone neoplasms, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchospasm, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular disease, Cataract, Cerebral cortical atrophy, Cerebrooculofacioskeletal Syndrome, Cervical Cancer, Cervix carcinoma, Cholangiocarcinoma, Chorea, Choreoathetosis, Clastothrix, CNS Disorder, Cockayne Syndrome, COFS Syndrome, Cognition disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Ankyloblepharon, Congenital Chromosomal Disease, Congenital Epicanthus, Congenital exfoliative erythroderma, Congenital Exomphalos, Congenital kyphoscoliosis, Congenital Nonbullous Ichthyosiform Erythroderma, Conjunctival Telangiectasis, Conjunctivitis, Coronary Arteriosclerosis, Coronary Heart Disease, Cortical cataract, Craniosynostosis, Cryptorchidism, Cyclic neutropenia, Deglutition disorder, Demyelinating diseases, Demyelinating neuropathy, Dental Enamel Hypoplasia, Dermatofibrosarcoma Protuberans, Dermatologic Disorders, Development Disorder, Developmental Delay, Developmental disability, Developmental regression, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diffuse Lymphoma, Diffuse Panbronchiolitis, Down Syndrome, Ductal Carcinoma, Dwarfism, Dysarthria, Dyskeratosis congenita, Dystonia, Ectropion, Eczema, Endometrial Cancer, Endometrial carcinoma, Endometrial hyperplasia, Endometrial neoplasm, Endometriosis, Entropion, Epileptic Encephalopathy, Epithelial ovarian carcinoma, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Esotropia, Exfoliative Dermatitis, Eye Neoplasms, Fanconi Anemia, Fatty Liver, Gallbladder cancer, Gallbladder neoplasm, Gastric Cancer, Gastroesophageal Reflux Disease, Gastrointestinal disease, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Glaucoma, Glioblastoma, Glioma, Gonadal Dysgenesis, Growth disorder, Hamartoma, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Headache, Hearing Loss, Hematologic disease, Hepatic veno occlusive disease, Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary Motor Neuropathy, Hereditary sensory and autonomic neuropathy, Hirschsprung disease, Hodgkin disease, Hydrocephalus, Hyperkeratosis, Hyperkeratosis, Epidermolytic, Hyperkinesia, Hypertension, Hypogonadism, Hypoplasia of mandible relative to maxilla, Hypospadias, Ichthyosis, Immune system disease, Impaired Cognition, Impaired social reciprocity, Intellectual developmental disorder, Intestinal Obstruction, Intrahepatic Cholangiocarcinoma, Keratitis, Keratoconjunctivitis Sicca, Kidney disease, Kidney failure, Laryngeal carcinoma, Laryngeal neoplasm, Larynx cancer, Leigh syndrome, Leiomyoma, Leukemia, Leukopenia, Leukoplakia, Lichen amyloidosis, Lip and Oral Cavity Carcinoma, Liver Cancer, Liver carcinoma, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lynch Syndrome, Major depressive disorder, Malabsorption Syndrome, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Testis, Malignant testicular germ cell tumor, Malnutrition, Mammary Neoplasms, Medulloblastoma, Melanocytic nevus, Melanoma, Meningioma, Mental retardation, Mesothelioma, Metachromatic Leukodystrophy, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Mixed Phenotype Leukemia, Monocytic Leukemia, Mouth disease, Mouth neoplasm, Multiple myeloma, Multiple system atrophy, Multiple Trichoepithelioma, Myelodysplastic Syndrome, Myeloid Leukemia, Myopia, Nail dystrophy, Nasal polyposis, Nasopharyngeal Cancer, Nasopharyngeal carcinoma, Nausea, Neoplasm, Neoplasms, Nephroblastoma, Nephrotic syndrome, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Neutropenia, Niemann-Pick Disease, Non-Hodgkin lymphoma, Nystagmus, Obesity, Obsessive-Compulsive Disorder, Oculocerebrorenal syndrome, Oligodendroglioma, Open angle glaucoma, Opitz GBBB Syndrome, X-Linked, Optic Atrophy, Oropharyngeal carcinoma, Osteopenia, Osteosarcoma, Osteosclerosis, Ovarian cancer, Ovarian dysgenesis, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Papilloma, Paraplegia, Partial Agenesis Of Corpus Callosum, Pena Shokeir syndrome, Pena-shokeir syndrome, Penis Agenesis, Periodontitis, Periventricular Leukomalacia, Poikiloderma, Polycystic Ovary Syndrome, Polycythemia Vera, Premature aging, Progeria, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pterygium, Rectal Carcinoma, Renal Carcinoma, Renal cell carcinoma, Respiratory system infectious disease, Retinal Diseases, Retinoblastoma, Rheumatoid arthritis, Seizure, Sensorineural hearing loss, Severe combined immunodeficiency disease, Skin cancer, Skin Carcinoma, Skin Lesion, Skin neoplasm, Skin Neoplasms, Sleep Apnea, Small cell carcinoma, Small cell lung carcinoma, Spastic paraplegia, Spina Bifida, Spinal Muscular Atrophy, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Stroke, Systemic lupus erythematosus, T-Cell Lymphoma, Talipes, Thrombocythemia, Thrombocytopenia, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Tongue carcinoma, Triple negative breast cancer, Triple Negative Breast Neoplasms, Urinary bladder cancer, Urothelial Carcinoma, Urticaria, Uterine Fibroids, Uterine neoplasm, UV-Sensitive Syndrome, Ventricular septal defect, Vertical Talus, Williams syndrome, Xeroderma Pigmentosum, Xeroderma Pigmentosum-Cockayne Syndrome Complex

Curated: Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy, Trichothiodystrophy, Venous thromboembolism, Xeroderma pigmentosum, Xeroderma pigmentosum-cockayne syndrome, xeroderma pigmentosum group B

Unreviewed: Adrenoleukodystrophy, Age-related macular degeneration, Alopecia, Anemia, Arsenic Encephalopathy, Arteriosclerosis, Astigmatism, Bloom syndrome, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchospasm, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular Diseases, Cataract, Cerebellar atrophy, Cerebral cortical atrophy, Cerebrooculofacioskeletal Syndrome, CNS Disorder, Cockayne Syndrome, Colorectal Cancer, Colorectal neoplasm, Congenital Ankyloblepharon, Congenital Epicanthus, Congenital exfoliative erythroderma, Congenital Exomphalos, Congenital Nonbullous Ichthyosiform Erythroderma, Conjunctival Telangiectasis, Cortical cataract, Craniosynostosis, Cryptorchidism, Demyelinating neuropathy, Dental Enamel Hypoplasia, Dermatologic Disorders, Development Disorder, Developmental Delay, Developmental regression, Diffuse Panbronchiolitis, Down Syndrome, Dwarfism, Dysarthria, Ectropion, Eczema, Entropion, Esophageal Carcinoma, Esophagus Neoplasm, Esotropia, Eye Neoplasms, Fanconi anemia, Gonadal Dysgenesis, Hamartoma, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Hearing Loss, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary Motor Neuropathy, Hydrocephalus, Hyperkeratosis, Hypertension, Hypogonadism, Hypoplasia of mandible relative to maxilla, Ichthyosis, Impaired Cognition, Impaired social reciprocity, Keratitis, Keratoconjunctivitis Sicca, Leukopenia, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphoma, Malignant Neoplasm, Melanocytic nevus, Melanoma, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Multiple myeloma, Myopia, Nasal polyposis, Neoplasms, Nervous System Diseases, Neutropenia, Nystagmus, Optic Atrophy, Osteopenia, Osteosarcoma, Osteosclerosis, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic ductal carcinoma, Pancreatic neoplasm, Papilloma, Paraplegia, Partial Agenesis Of Corpus Callosum, Periventricular Leukomalacia, Poikiloderma, Premature aging, Prostate cancer, Pterygium, Pulmonary arterial hypertension, Retinal Diseases, Retinitis Pigmentosa, Seizure, Sensorineural hearing loss, Skin cancer, Skin carcinoma, Skin neoplasm, Sleep Apnea, Spinal Muscular Atrophy, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Tongue carcinoma, Trichohepatoenteric Syndrome, Urticaria, UV-Sensitive Syndrome, Ventricular septal defect, Williams syndrome, Xeroderma Pigmentosum, Xeroderma Pigmentosum-Cockayne Syndrome Complex

Curated: Anorexia nervosa, Asthma, Attention deficit hyperactivity disorder, Autism, Cerebellar ataxia, Bipolar disorder, Cockayne syndrome, Color vision deficiency, Conduct disorder, Dental caries, Fanconi anemia, Genetic predisposition to disease, Major depressive disorder, Metabolic syndrome, Mitral valve prolapse, Neurotic disorder, Non-neoplastic peripheral nervous system disease, Obesity, Obsessive-compulsive disorder, Oligodendroglioma, Premature ovarian failure, Peripheral nervous system disease, Peripheral neuropathy, Psychiatric disorders, Schizophrenia, Scoliosis, Spastic ataxia, Substance abuse, Testicular neoplasms, Tourette syndrome, Diabetes mellitus type 2, Urinary bladder neoplasms, Xeroderma pigmentosum, Xeroderma pigmentosum-cockayne syndrome, Xfe progeroid syndrome, xeroderma pigmentosum group F

Unreviewed: Adenocarcinoma, Adenoid cystic carcinoma, Alopecia, Anemia, Arsenic Encephalopathy, Arteriosclerosis, Astigmatism, Atherosclerosis, Atrial Septal Defect, Azoospermia, B-cell Lymphoma, Biliary Atresia, Bladder carcinoma, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Breast disease, Breast Diseases, Breast neoplasm, Cafe-au-lait spot, Camptodactyly of fingers, Carcinoma, Carcinoma Of The Head And Neck, Carotid artery stenosis, Cataract, Cerebral cortical atrophy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Choanal Atresia, Cockayne Syndrome, Colitis, Colorectal Cancer, Colorectal neoplasm, Congenital Ankyloblepharon, Congenital Arteriovenous Malformation, Congenital Chromosomal Disease, Congenital Epicanthus, Congenital Exomphalos, Conjunctival Telangiectasis, Cranial Nerve Paralysis, Cryptorchidism, Demyelinating neuropathy, Dental Enamel Hypoplasia, Developmental Delay, Developmental regression, Diabetic Retinopathy, Dolichocephaly, Dwarfism, Dysarthria, Ectropion, Embryonal Neoplasm, Endometrial Cancer, Endometrial carcinoma, Entropion, Esophageal Atresia, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Eye Neoplasms, Fanconi Anemia, Frontal bossing, Gastritis, Gastrointestinal stromal tumor, Glioma, Head and neck neoplasm, Hearing Loss, Hemolytic anemia, Hepatocellular carcinoma, Hereditary Breast And Ovarian Cancer Syndrome, Hereditary sensory and autonomic neuropathy, High palate, Hirschsprung Disease, Hydrocephalus, Hyperkeratosis, Hypertension, Hypertrophic cardiomyopathy, Hypogonadism, Hypospadias, Impaired Cognition, Imperforate anus, Ischemic Stroke, Keratitis, Kidney Cancer, Kidney Disease, Laryngeal carcinoma, Larynx cancer, Leukemia, Leukopenia, Lip and Oral Cavity Carcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphocytic Leukemia, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Testis, Malignant testicular germ cell tumor, Malnutrition, Mammary Neoplasms, Meckel Diverticulum, Melanocytic nevus, Melanoma, Meningioma, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Miller Dieker Syndrome, Monocytic Leukemia, Mucoepidermoid carcinoma, Multiple Trichoepithelioma, Myelodysplasia, Myelodysplastic Syndrome, Myeloid leukemia, Neoplasm, Neoplasms, Nervous System Diseases, Neuroblastoma, Neutropenia, Nystagmus, Oculocerebrorenal syndrome, Optic Atrophy, Oropharyngeal carcinoma, Oropharyngeal neoplasm, Osteogenesis imperfecta, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Papilloma, Patent ductus arteriosus, Pituitary dwarfism, Poikiloderma, Premature aging, Progeria, Proptosis, Prostate cancer, Prostatic neoplasm, Pterygium, Ptosis, Renal Carcinoma, Renal Insufficiency, Retinal Diseases, Salivary gland neoplasms, Sarcoma, Seborrheic keratosis, Skin carcinoma, Small cell lung carcinoma, Spina Bifida, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Syndactyly of fingers, Syndactyly Of The Toes, Testicular Diseases, Testicular Neoplasms, Tetralogy of Fallot, Thumb Aplasia, Thyroid Carcinoma, Tongue carcinoma, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tumor, Tumor of Rete Testis, Urinary bladder cancer, Urticaria, Werner Syndrome, Xeroderma Pigmentosum, Xeroderma Pigmentosum-Cockayne Syndrome Complex, XFE Progeroid Syndrome

Curated: Cerebellar atrophy, Cerebrooculofacioskeletal syndrome, Colorectal neoplasms, Congenital pes cavus, Dysarthria, Genetic predisposition to disease, Polyneuropathy, Spastic paraplegia, Xeroderma pigmentosum, Xeroderma pigmentosum-cockayne syndrome, xeroderma pigmentosum group G

Unreviewed: Adenocarcinoma, Adenomatous Polyposis, Alopecia, Anemia, Arteriosclerosis, Arthrogryposis multiplex congenita, B-Cell Lymphoma, Bladder carcinoma, Bladder Neoplasm, Blood coagulation disorder, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchitis, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cataract, Cerebellar ataxia, Cerebral cortical atrophy, Cerebrooculofacioskeletal Syndrome, Cervical Cancer, Cervix carcinoma, Cholangiocarcinoma, Chorea, Chronic obstructive pulmonary disease, Cockayne Syndrome, COFS Syndrome, Cognition disorder, Colorectal Cancer, Colorectal neoplasm, Congenital Ankyloblepharon, Congenital Chromosomal Disease, Congenital Clubfoot, Congenital heart defect, Congenital Pectus Excavatum, Congenital Pes Cavus, Conjunctival Telangiectasis, Coronary artery disease, Coronary Heart Disease, Cortical cataract, Cryptorchidism, Demyelinating neuropathy, Dermatofibrosarcoma Protuberans, Developmental Delay, Developmental disability, Developmental regression, Diffuse Lymphoma, Ductal carcinoma of breast, Dwarfism, Dystonia, Ectropion, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Entropion, Epithelial ovarian carcinoma, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Eye Neoplasms, Fanconi Anemia, Gastritis, Gastrointestinal neoplasm, Giant Cell Arteritis, Glioma, Hamartoma, Head and neck cancer, Head And Neck Carcinoma, Hearing Loss, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hydrocephalus, Hyperkeratosis, Hypogonadism, Ichthyosis, Impaired Cognition, Keratitis, Laryngeal carcinoma, Laryngeal neoplasm, Laryngitis, Larynx cancer, Leiomyoma, Leiomyosarcoma, Leukemia, Leukopenia, liposarcoma, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphoma, Major depressive disorder, Malignant Neoplasm, Melanocytic nevus, Melanoma, Meningioma, Mental retardation, Merkel cell carcinoma, Microcephaly, Micrognathism, Microphthalmos, Migraine, Mouth disease, Mouth neoplasm, Multiple Sclerosis, Myeloid leukemia, Neoplasm, Neoplasms, Nervous System Diseases, Neuroblastoma, Neurodegenerative disorder, Neutropenia, Non-Hodgkin lymphoma, Nystagmus, Oculocerebrorenal syndrome, Optic Atrophy, Oral submucous fibrosis, Oropharyngeal carcinoma, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Papillary thyroid cancer, Papillary thyroid carcinoma, Papilloma, Pena Shokeir syndrome, Pena-shokeir syndrome, Peripheral nervous system disease, Poikiloderma, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pterygium, Retinal Diseases, Sarcoma, Schizophrenia, Skin cancer, Skin carcinoma, Skin disease, Skin neoplasm, Sleep Apnea, Small cell lung carcinoma, Spastic Paraplegia, Squamous cell carcinoma, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Stroke, Synovial sarcoma, T-Cell Lymphoma, Talipes, Testicular germ cell tumor, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Urinary bladder cancer, Urinary bladder neoplasms, Urticaria, Uterine neoplasm, UV-Sensitive Syndrome, Vertical Talus, Werner syndrome, Xeroderma Pigmentosum, Xeroderma Pigmentosum-Cockayne Syndrome Complex