Testicular Torsion |
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Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Testicular Microlithiasis |
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Testicular microlithiasis |
OMIM:610441 |
Drug Metabolism, Poor, Cyp2D6-Related |
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Neoplasm |
OMIM:608902 |
Cancer, Familial, With In Vitro Radioresistance |
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Neoplasm |
OMIM:114450 |
Nasopharyngeal Carcinoma, Susceptibility To, 2 |
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Neoplasm |
OMIM:161550 |
Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Neoplasm |
OMIM:132800 |
Adamantinoma Of Long Bones |
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Neoplasm |
OMIM:102660 |
Salivary Gland Adenoma, Pleomorphic |
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Salivary gland neoplasm |
OMIM:181030 |
Cheilitis Glandularis |
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Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
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Abnormal salivary gland morphology |
ORPHA:3225 |
Kimura Disease |
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Abnormal salivary gland morphology |
ORPHA:482 |
Van Der Woude Syndrome |
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Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
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Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
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Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian carcinoma |
OMIM:613399 |
Ovarian Cancer |
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Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Brooke-Spiegler Syndrome |
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Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... |
ORPHA:79493 |
Ovarian Fibromata |
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Ovarian fibroma |
OMIM:166970 |
Variant Abeta2M Amyloidosis |
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Abnormal salivary gland morphology, Intestinal perforation, Abnormality of the tongue |
ORPHA:314652 |
Oxoglutaric Aciduria |
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Abnormal salivary gland morphology |
ORPHA:31 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Cerebral Sarcoma |
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Fibrosarcoma, Neoplasm |
OMIM:117600 |
Pancreatic Cancer, Susceptibility To, 5 |
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Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Hereditary Breast And Ovarian Cancer Syndrome |
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Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Abnormal fallopian tube morphology,... |
ORPHA:145 |
Pancreatic Cancer, Susceptibility To, 1 |
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Pancreatic adenocarcinoma |
OMIM:606856 |
Pancreatic Cancer, Susceptibility To, 2 |
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Neoplasm of the pancreas |
OMIM:613347 |
Leiomyoma, Uterine |
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Uterine leiomyoma |
OMIM:150699 |
Igg4-Related Submandibular Gland Disease |
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Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morphology, Xerostomia, Facial... |
ORPHA:449432 |
Muir-Torre Syndrome |
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Neoplasm of the stomach, Endometrial carcinoma, Adenoma sebaceum, Salivary gland neoplasm, Colon ... |
ORPHA:587 |
Igg4-Related Thyroid Disease |
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Dysphagia, Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotox... |
ORPHA:64744 |
Melioidosis |
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Abnormal parotid gland morphology, Prostatitis, Parotitis |
ORPHA:31202 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
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Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614337 |
Treacher Collins Syndrome 1 |
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Cleft palate, Wide mouth, Abnormal parotid gland morphology, Cleft soft palate, Narrow mouth, Cry... |
OMIM:154500 |
Benign Schwannoma |
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Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology |
ORPHA:252164 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Salivary Duct Calculi |
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Abnormality of the mouth, Parotitis |
OMIM:181010 |
Serrated Polyposis Syndrome |
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Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... |
ORPHA:157798 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Dysphagia, Macroglossia, Xerostomia, Gastroparesis, Gastroint... |
ORPHA:85443 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Breast carcinoma, Papillary thyroid carcinoma, Uterine leiomyoma |
OMIM:612359 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... |
OMIM:616425 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Abnormal salivary gland morphology, Xerostomia, Nodular goiter, Facial edema, Abnormality of the ... |
ORPHA:79078 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Carious teeth, Absence of Stensen duct, Cleft palate, Hypoplastic nipples, Microdontia, Urethral ... |
OMIM:604292 |
Prune Belly Syndrome |
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Urethral valve, Congenital posterior urethral valve, Xerostomia, Anal atresia, Oligohydramnios, C... |
OMIM:100100 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615723 |
Lacrimoauriculodentodigital Syndrome |
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Abnormal salivary gland morphology, Carious teeth, Lacrimal gland aplasia, Hypodontia, Dysphagia,... |
ORPHA:2363 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Prostatitis, Pancreatitis, Thyroiditis, Palpebral edema, C... |
ORPHA:449563 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Carious teeth, Absence of Stensen duct, Cleft palate, Hypoplastic nipples, Microdontia, Oligodont... |
OMIM:129900 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Enlarged ovaries, Polycystic ovaries, Enlarged polycystic ova... |
ORPHA:2298 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... |
ORPHA:524 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Inflammation of the large intestine, Pericardial effusion, Pl... |
OMIM:181000 |
Neurofibroma |
|
Enlargement of parotid gland, Intestinal bleeding, Multiple intestinal neurofibromatosis |
ORPHA:252183 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Familial Multinodular Goiter |
|
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... |
ORPHA:276399 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Xerostomia, Joint swelling |
ORPHA:90340 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Prostatitis, Urethritis, Pancreatitis, Thyroiditis, Sialad... |
ORPHA:449395 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, Neoplasm, Prostatitis |
OMIM:300755 |
Lacrimoauriculodentodigital Syndrome |
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Carious teeth, Conical incisor, Lacrimal gland aplasia, Aplasia of the parotid gland, Absence of ... |
OMIM:149730 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Central hypothyroidism, Xerostomia, Hypogonadotropic hypogonadism, Exte... |
ORPHA:398079 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypodontia, Hypoplastic nipples, Abnormal number of teeth, Xerostomia, Conical tooth, Everted low... |
OMIM:614941 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Gastroparesis, Periodontitis, Vomiting, Precocious puberty, Hypoplastic... |
ORPHA:739 |
Burning Mouth Syndrome |
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Strawberry tongue, Parageusia, Tongue pain, Xerostomia, Abnormality of the gingiva, Burning mouth... |
ORPHA:353253 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Epididymitis, Prostatitis |
OMIM:307200 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Chronic constipation, Central hypothyroidism, Xerostomia, Small scrotum... |
ORPHA:398069 |
Hypohidrotic Ectodermal Dysplasia |
|
Xerostomia, Abnormality of dental morphology, Thick vermilion border, Hypohidrosis, Breast aplasi... |
ORPHA:238468 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Lacrimal gland aplasia, Xerostomia, Lacrimal gland hypoplasia |
OMIM:180920 |
Kikuchi-Fujimoto Disease |
|
Oral ulcer, Enlargement of parotid gland, Pleural effusion, Palpebral edema |
ORPHA:50918 |
Hereditary Acrokeratotic Poikiloderma |
|
Gingival bleeding, Open bite, Xerostomia, Abnormal preputium morphology, Abnormality of the ureth... |
ORPHA:2907 |
Cryptococcosis |
|
Lymphoid leukemia, Neoplasm, Prostatitis |
ORPHA:1546 |
Sarcoidosis |
|
Abnormal reproductive system morphology, Chylothorax, Parotitis, Hyperthyroidism, Enlargement of ... |
ORPHA:797 |
Eec Syndrome |
|
Hypospadias, Carious teeth, Cleft palate, Microdontia, Urethral atresia, Xerostomia, Hypoplasia o... |
ORPHA:1896 |
Alkaptonuria |
|
Prostatitis |
ORPHA:56 |
Helix Syndrome |
|
Xerostomia, Anhidrosis, Hyperparathyroidism, Hypohidrosis |
OMIM:617671 |
Microsporidiosis |
|
Abnormality of the endometrium, Prostatitis, Urethritis, Pancreatitis, Abnormal fallopian tube mo... |
ORPHA:2552 |
Whim Syndrome |
|
Severe periodontitis, Abnormality of the small intestine, Cervix cancer, Parotitis |
ORPHA:51636 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Celiac disease, Atrophic gastritis, Xerostomia, Graves disease, Hy... |
ORPHA:227982 |
Rat-Bite Fever |
|
Parotitis |
ORPHA:31205 |
Granulomatosis With Polyangiitis |
|
Pancreatitis, Prostatitis |
ORPHA:900 |