Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
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Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Cardiomyopathy, Dilated, 1R |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Left Ventricular Noncompaction 10 |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Left Ventricular Noncompaction 8 |
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Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Gg |
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Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Ichthyosis Hystrix, Lambert Type |
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Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
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Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
Left Ventricular Noncompaction 1 |
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Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
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Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Cardiomyopathy, Dilated, 1D |
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Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Atrial Standstill |
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Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Pilomatrixoma |
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Pilomatrixoma |
OMIM:132600 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Huriez Syndrome |
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Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin |
OMIM:181600 |
Cutaneous Neuroendocrine Carcinoma |
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Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Familial Multinodular Goiter |
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Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Pilomatrixoma |
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Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Heart Block, Congenital |
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Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Pilomatrixoma, Embryonal rhabdomyosarcoma, Hyperkeratosis, Multiple enchondromatosis, Adenocarcin... |
OMIM:620189 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Gardner Syndrome |
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Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Oculocutaneous Albinism Type 1A |
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Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac... |
OMIM:619167 |
Turcot Syndrome With Polyposis |
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Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Xeroderma Pigmentosum, Complementation Group E |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Xeroderma Pigmentosum, Complementation Group C |
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Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
Oculocutaneous Albinism Type 1B |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:620365 |
Xeroderma Pigmentosum, Complementation Group B |
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Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Dyskeratosis Congenita, Digenic |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:620040 |
Xeroderma Pigmentosum, Complementation Group A |
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Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Hermansky-Pudlak Syndrome |
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Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79430 |
Oculocutaneous Albinism Type 2 |
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Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Papillary renal cell carcinoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmon... |
ORPHA:363618 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:79396 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:127550 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Pilomatrixoma, Neoplasm, Spinal cord tumor, Meningioma |
ORPHA:353281 |
Tetrasomy 9P |
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Pilomatrixoma |
ORPHA:3310 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Pilomatrixoma, Meningioma |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Pilomatrixoma, Meningioma |
ORPHA:353277 |