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 |
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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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Thick lower lip vermilion, Abnormal salivary gland morphology |
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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Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
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 |
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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, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
Ovarian Fibromata |
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Ovarian fibroma |
OMIM:166970 |
Variant Abeta2M Amyloidosis |
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Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology |
ORPHA:314652 |
Oxoglutaric Aciduria |
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Abnormal salivary gland morphology |
ORPHA:31 |
Reticulum Cell Sarcoma |
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Sarcoma, Neoplasm |
OMIM:267730 |
Pancreatic Cancer, Susceptibility To, 5 |
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Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Hereditary Breast And Ovarian Cancer Syndrome |
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Breast carcinoma, Abnormal fallopian tube morphology, Prostate cancer, Neoplasm of the pancreas, ... |
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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Sialadenitis, Prostatitis, Periorbital edema, Abnormality of the submandibular glands, Abnormal s... |
ORPHA:449432 |
Thyroid Cancer, Nonmedullary, 4 |
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Prostate cancer, Basal cell carcinoma, Papillary thyroid carcinoma, Goiter, Ovarian neoplasm |
OMIM:616534 |
Muir-Torre Syndrome |
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Neoplasm of the stomach, Adenoma sebaceum, Colon cancer, Salivary gland neoplasm, Endometrial car... |
ORPHA:587 |
Lynch Syndrome 5 |
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Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
Igg4-Related Thyroid Disease |
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Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... |
ORPHA:64744 |
Lynch Syndrome 4 |
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Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614337 |
Melioidosis |
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Parotitis, Prostatitis, Abnormal parotid gland morphology |
ORPHA:31202 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cryptorchidism, C... |
OMIM:154500 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
Al Amyloidosis |
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Macroglossia, Abnormal salivary gland morphology, Xerostomia, Peripheral edema, Dysphagia, Gastro... |
ORPHA:85443 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Breast carcinoma, Colorectal polyposis, Bladder carcinoma, Prostate ca... |
ORPHA:157798 |
Cowden-Like syndrome |
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Breast carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Endometrial carcinoma |
OMIM:612359 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
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Enlargement of parotid gland |
OMIM:600343 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Nodular goiter, Thyroiditis, Abnormality of the submandibular glands, Abnormal salivary gland mor... |
ORPHA:79078 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Prune Belly Syndrome |
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Congenital posterior urethral valve, Anal atresia, Oligohydramnios, Xerostomia, Cryptorchidism |
OMIM:100100 |
Benign Schwannoma |
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Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology |
ORPHA:252164 |
Lacrimoauriculodentodigital Syndrome |
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Enamel hypoplasia, Dysphagia, Bicornuate uterus, Microdontia, Hypodontia, Bifid uvula, Lacrimal g... |
ORPHA:2363 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Cleft upper lip, Decreased response to growth hormone stimulation test, Selective tooth agenesis,... |
OMIM:604292 |
Igg4-Related Ophthalmic Disease |
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Abnormality of the anterior pituitary, Sialadenitis, Prostatitis, Thyroiditis, Periorbital edema,... |
ORPHA:449563 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Cleft upper lip, Decreased response to growth hormone stimulation test, Selective tooth agenesis,... |
OMIM:129900 |
Insulin-Resistance Syndrome Type B |
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Enlarged ovaries, Polycystic ovaries, Abnormal salivary gland morphology, Enlarged polycystic ova... |
ORPHA:2298 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
Li-Fraumeni Syndrome |
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Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Pleural effusion, Inflammation of the large intestine, Abnormal salivary gl... |
OMIM:181000 |
Muir-Torre Syndrome |
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Breast carcinoma, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genitourinary tract tumor,... |
OMIM:158320 |
Teratoma, Ovarian |
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Ovarian teratoma |
OMIM:166950 |
Neurofibroma |
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Multiple intestinal neurofibromatosis, Enlargement of parotid gland, Intestinal bleeding |
ORPHA:252183 |
Endometrial Cancer |
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Endometrial carcinoma |
OMIM:608089 |
Blau Syndrome |
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Joint swelling, Abnormal salivary gland morphology, Xerostomia |
ORPHA:90340 |
Sim1-Related Prader-Willi-Like Syndrome |
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Central hypothyroidism, Precocious puberty, Hypogonadism, External genital hypoplasia, Decreased ... |
ORPHA:398079 |
Tumor Predisposition Syndrome 2 |
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Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... |
OMIM:619975 |
Prader-Willi Syndrome |
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Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Peri... |
ORPHA:739 |
Familial Multinodular Goiter |
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Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol... |
ORPHA:276399 |
Lacrimoauriculodentodigital Syndrome 1 |
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Enamel hypoplasia, Conical incisor, Delayed eruption of primary teeth, Microdontia, Absence of St... |
OMIM:149730 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Pedal edema, Sialadenitis, Prostatitis, Thyroiditis, Ureth... |
ORPHA:449395 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
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Conical tooth, Hypodontia, Anhidrosis, Absent nipple, Everted lower lip vermilion, Xerostomia, Hy... |
OMIM:614941 |
Magel2-Related Prader-Willi-Like Syndrome |
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Central hypothyroidism, Gastroesophageal reflux, Precocious puberty, Hypogonadism, External genit... |
ORPHA:398069 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Epididymitis, Prostatitis, Decreased response to growth hormone stimulation test |
OMIM:307200 |
Burning Mouth Syndrome |
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Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Xerostomia, Smooth to... |
ORPHA:353253 |
Hypohidrotic Ectodermal Dysplasia |
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Hypohidrosis, Abnormality of dental morphology, Breast aplasia, Tooth agenesis, Xerostomia, Abnor... |
ORPHA:238468 |
Aplasia Of Lacrimal And Salivary Glands |
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Carious teeth, Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia |
OMIM:180920 |
Kikuchi-Fujimoto Disease |
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Pleural effusion, Oral ulcer, Enlargement of parotid gland, Palpebral edema |
ORPHA:50918 |
Hereditary Acrokeratotic Poikiloderma |
|
Gingivitis, Abnormal pigmentation of the oral mucosa, Abnormal preputium morphology, Premature lo... |
ORPHA:2907 |
Agammaglobulinemia, X-Linked |
|
Delayed speech and language development, Epididymitis, Hepatocellular carcinoma, Prostatitis |
OMIM:300755 |
Cryptococcosis |
|
Lymphoid leukemia, Neoplasm, Prostatitis |
ORPHA:1546 |
Sarcoidosis |
|
Hypothyroidism, Hyperthyroidism, Pleural effusion, Abnormal reproductive system morphology, Parot... |
ORPHA:797 |
Kilquist Syndrome |
|
Midgut malrotation, Gastroesophageal reflux, Wide mouth, Chronic constipation, Absent speech, Int... |
OMIM:619080 |
Eec Syndrome |
|
Urethral atresia, Hypohidrosis, Hypoplasia of the thymus, Decreased response to growth hormone st... |
ORPHA:1896 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis, Severe periodontitis, Cervix cancer |
ORPHA:51636 |
Alkaptonuria |
|
Prostatitis |
ORPHA:56 |
Helix Syndrome |
|
Hyperparathyroidism, Hypohidrosis, Xerostomia, Anhidrosis |
OMIM:617671 |
Microsporidiosis |
|
Abnormal fallopian tube morphology, Prostatitis, Thyroiditis, Urethritis, Abnormality of the para... |
ORPHA:2552 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Atrophic gastritis, Anterior pituitary dysgenesis, Primary adrenal... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Anterior pituitary dysgenesis, Primary adrenal insufficiency, Central diabete... |
ORPHA:227990 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Granulomatosis With Polyangiitis |
|
Pancreatitis, Prostatitis |
ORPHA:900 |
Rat-Bite Fever |
|
Parotitis |
ORPHA:31205 |
Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Esophageal stricture, Diarrhea, Esophageal ulceration, Phimosis, Pleural... |
ORPHA:99921 |