Lung Cancer |
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Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Tumor Predisposition Syndrome 1 |
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Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Colorectal Cancer, Susceptibility To, 12 |
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Carcinoma |
OMIM:615083 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
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Neurodegeneration |
OMIM:613068 |
Diaminopentanuria |
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Neurodegeneration, Ataxia |
OMIM:222350 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Squamous Cell Carcinoma, Head And Neck |
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Squamous cell carcinoma |
OMIM:275355 |
Xeroderma Pigmentosum, Complementation Group G |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration |
OMIM:615643 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Difficulty walking,... |
OMIM:612319 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
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Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal... |
OMIM:256600 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Neurodegeneration, Cerebral cort... |
OMIM:617672 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Cerebellar atrophy, Ataxia, Neurodegeneration |
OMIM:615889 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Cerebellar atrophy, Akinesia, Cerebral atrophy, Bradykinesia, Neurodegeneration |
OMIM:300894 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Cerebellar atrophy, Ataxia, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxia, Bradykinesia, Dysd... |
OMIM:615157 |
Bazex Syndrome |
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Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Xeroderma Pigmentosum, Complementation Group F |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability |
OMIM:600546 |
Opsoclonus-Myoclonus Syndrome |
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Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Fanconi Renotubular Syndrome 5 |
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Lung adenocarcinoma |
OMIM:618913 |
Scleroderma, Familial Progressive |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Splenomegaly, Leukopenia, Lymphopenia, Neurodegeneration |
OMIM:620210 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Cerebellar atrophy, Ataxia, Cerebral atrophy, Dysmetria, Neurodegeneration, Loss of ambulation |
OMIM:615491 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Choreoathetosis, Ataxia, Bradykinesia, Neurodegeneration |
OMIM:606159 |
Xeroderma Pigmentosum, Complementation Group E |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Hsd10 Disease, Infantile Type |
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Diffuse cerebral atrophy, Cerebral atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Neu... |
ORPHA:391428 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Ataxia, Thrombocytopenia, Splenomegaly, Neutropenia, L... |
OMIM:214500 |
Legius Syndrome |
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Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Cerebrooculofacioskeletal Syndrome 1 |
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Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neurodegeneration, Brain atrophy |
OMIM:214150 |
Krabbe Disease |
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Diffuse cerebral atrophy, Neurodegeneration, Autoimmune thrombocytopenia |
OMIM:245200 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Cerebellar atrophy, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy, Dysdiadochokinesis, N... |
OMIM:610217 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Pancytopenia, Ataxia, Cerebral atrophy, Gait ataxia, Gliosis, Neurodegeneration, Lethargy |
OMIM:618321 |
Pyruvate Dehydrogenase E2 Deficiency |
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Neurodegeneration, Broad-based gait, Gait disturbance, Difficulty walking |
ORPHA:79244 |
Xeroderma Pigmentosum, Complementation Group C |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Asbestos Intoxication |
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Malignant mesothelioma, Lung adenocarcinoma |
ORPHA:2302 |
Lambert-Eaton Myasthenic Syndrome |
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Small cell lung carcinoma |
ORPHA:43393 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis, Neurodegeneration |
OMIM:616239 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration |
OMIM:615919 |
Adrenoleukodystrophy |
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Neurodegeneration, Limb ataxia, Truncal ataxia |
OMIM:300100 |
Xeroderma Pigmentosum, Complementation Group A |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Fanconi Anemia, Complementation Group E |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:600901 |
Xeroderma Pigmentosum, Complementation Group D |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Fanconi Anemia, Complementation Group A |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227650 |
Adrenocortical Carcinoma |
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Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Neurodegeneration, Ataxia, Difficulty walking, Periventricular heterotopia |
OMIM:618476 |
Xfe Progeroid Syndrome |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Cerebellar atrophy, Ataxia, Gait disturbance, Neurodegeneration, Loss of ambulation |
OMIM:614298 |
Fanconi Anemia, Complementation Group C |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227645 |
Multiple System Atrophy 1, Susceptibility To |
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Bradykinesia, Ataxia, Neurodegeneration |
OMIM:146500 |
Trichothiodystrophy |
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Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Ataxia, Akinesia, Acanthocytosis, Choreoathetosis, Bradykinesia, Gait disturbance, Neurodegenerat... |
OMIM:234200 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Ataxia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Gait disturbance |
OMIM:616878 |
Gm2 Gangliosidosis, Ab Variant |
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Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Fanconi Anemia, Complementation Group D2 |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227646 |
De Sanctis-Cacchione Syndrome |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Cerebral Visual Impairment |
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Central nervous system degeneration, Neurodegeneration |
ORPHA:447788 |
Gm2-Gangliosidosis, Ab Variant |
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Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Dermatomyositis |
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Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... |
ORPHA:99889 |
Mucopolysaccharidosis, Type Ii |
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Splenomegaly, Neurodegeneration, Hepatosplenomegaly |
OMIM:309900 |
Hurler Syndrome |
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Splenomegaly, Neurodegeneration, Hepatosplenomegaly |
OMIM:607014 |
Renal Cell Carcinoma, Nonpapillary |
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Renal cell carcinoma |
OMIM:144700 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Glioma, T lymphocytopenia, B lymphocytopenia, Neurodegeneration, Thr... |
OMIM:251260 |
Mucopolysaccharidosis, Type Vii |
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Splenomegaly, Neurodegeneration |
OMIM:253220 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne... |
ORPHA:821 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Broad-based gait, Ataxia, Tip-toe gait, Neurodegeneration, Falls |
OMIM:619475 |
Primrose Syndrome |
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Neurodegeneration, Ataxia |
OMIM:259050 |