Cancer, Familial, With In Vitro Radioresistance |
|
Neoplasm |
OMIM:114450 |
Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Neoplasm |
OMIM:132800 |
Drug Metabolism, Poor, Cyp2D6-Related |
|
Neoplasm |
OMIM:608902 |
Nasopharyngeal Carcinoma, Susceptibility To, 2 |
|
Neoplasm |
OMIM:161550 |
Adamantinoma Of Long Bones |
|
Neoplasm |
OMIM:102660 |
Salivary Gland Adenoma, Pleomorphic |
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Salivary gland neoplasm |
OMIM:181030 |
Cheilitis Glandularis |
|
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 |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Van Der Woude Syndrome |
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Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
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Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
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Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Ovarian Cancer |
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Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Variant Abeta2M Amyloidosis |
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Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue |
ORPHA:314652 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Pancreatic Cancer, Susceptibility To, 5 |
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Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Pancreatic Cancer, Susceptibility To, 1 |
|
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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Facial edema, Periorbital edema, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphol... |
ORPHA:449432 |
Thyroid Cancer, Nonmedullary, 4 |
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Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Muir-Torre Syndrome |
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Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Colon cancer, Adenoma se... |
ORPHA:587 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
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Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Igg4-Related Thyroid Disease |
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Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Melioidosis |
|
Prostatitis, Parotitis, Abnormal parotid gland morphology |
ORPHA:31202 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Al Amyloidosis |
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Gastrointestinal hemorrhage, Gastroparesis, Xerostomia, Macroglossia, Peripheral edema, Dysphagia... |
ORPHA:85443 |
Cowden-Like syndrome |
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Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
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Enlargement of parotid gland |
OMIM:600343 |
Darier-White Disease |
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Enlargement of parotid gland |
OMIM:124200 |
Lynch Syndrome 5 |
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Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Palpebral edema, Facial edema, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Enlargement of ... |
ORPHA:79078 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Lynch Syndrome 4 |
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Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... |
ORPHA:2298 |
Igg4-Related Ophthalmic Disease |
|
Palpebral edema, Orchitis, Periorbital edema, Abnormality of the anterior pituitary, Enlarged lac... |
ORPHA:449563 |
Lacrimoauriculodentodigital Syndrome |
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Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hy... |
OMIM:604292 |
Prune Belly Syndrome |
|
Cryptorchidism, Xerostomia, Anal atresia, Oligohydramnios |
OMIM:100100 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:129900 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Enlarged lacrimal glands, Inflammation of the large intestine, Abnormal sal... |
OMIM:181000 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Blau Syndrome |
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Joint swelling, Abnormal salivary gland morphology, Xerostomia |
ORPHA:90340 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Coronal hypospadias, X... |
OMIM:149730 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Thyroiditis, Pedal edema, Sialadenitis, Prostatitis, Pancr... |
ORPHA:449395 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Absent nipple, Conical tooth, Xerostomia, Everted lower lip vermilion, Hypoplastic ni... |
OMIM:614941 |
Sim1-Related Prader-Willi-Like Syndrome |
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Thin upper lip vermilion, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas... |
ORPHA:398079 |
Burning Mouth Syndrome |
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Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Familial Multinodular Goiter |
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Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Abnormality of the dentition, Xerostomia, Hypohidrosis, Tooth agenesi... |
ORPHA:238468 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Epididymitis, Prostatitis, Decreased response to growth hormone stimulation test |
OMIM:307200 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia |
OMIM:180920 |
Magel2-Related Prader-Willi-Like Syndrome |
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Thin upper lip vermilion, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptor... |
ORPHA:398069 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Pleural effusion, Palpebral edema, Oral ulcer |
ORPHA:50918 |
Hereditary Acrokeratotic Poikiloderma |
|
Premature loss of primary teeth, Abnormal preputium morphology, Open bite, Abnormality of the den... |
ORPHA:2907 |
Erythermalgia, Primary |
|
Diarrhea, Constipation, Xerostomia, Hyperhidrosis |
OMIM:133020 |
Cryptococcosis |
|
Lymphoid leukemia, Neoplasm, Prostatitis |
ORPHA:1546 |
Sarcoidosis |
|
Hyperthyroidism, Abnormal reproductive system morphology, Enlarged lacrimal glands, Enlargement o... |
ORPHA:797 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis |
OMIM:617671 |
Whim Syndrome |
|
Cervix cancer, Abnormal small intestine morphology, Severe periodontitis, Parotitis |
ORPHA:51636 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Abnormal dental enamel morpho... |
ORPHA:1896 |
Yao Syndrome |
|
Diarrhea, Xerostomia, Oral ulcer |
OMIM:617321 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, Prostatitis |
OMIM:300755 |
Alkaptonuria |
|
Prostatitis |
ORPHA:56 |
Postorgasmic Illness Syndrome |
|
Xerostomia, Hyperhidrosis |
ORPHA:279947 |
Intestinal Botulism |
|
Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Kilquist Syndrome |
|
Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teeth, Wide mouth, Chronic ... |
OMIM:619080 |
Adiposis Dolorosa |
|
Hypothyroidism, Constipation, Xerostomia, Diarrhea |
ORPHA:36397 |
Iatrogenic Botulism |
|
Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... |
ORPHA:227982 |
Botulism |
|
Diarrhea, Xerostomia, Dysphagia, Constipation |
ORPHA:1267 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Primary adrenal i... |
ORPHA:227990 |
Foodborne Botulism |
|
Diarrhea, Xerostomia, Dysphagia, Constipation |
ORPHA:228371 |
Microsporidiosis |
|
Abnormality of the parathyroid gland, Abnormal endometrium morphology, Thyroiditis, Abnormal fall... |
ORPHA:2552 |
Inhalational Botulism |
|
Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux, Dysphagia, Ascites |
ORPHA:779 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Xerostomia, Widely spaced teeth |
OMIM:620193 |
Sjogren Syndrome |
|
Xerostomia |
OMIM:270150 |
Infant Botulism |
|
Constipation, Xerostomia, Bowel incontinence, Dysphagia |
ORPHA:178478 |
Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Carious teeth, Xerostomia, Gastroesophageal reflux, Dysphagia |
ORPHA:220393 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Chronic constipation, Smooth tongue, Narrow mou... |
ORPHA:1051 |
Granulomatosis With Polyangiitis |
|
Prostatitis, Pancreatitis |
ORPHA:900 |
Rat-Bite Fever |
|
Parotitis |
ORPHA:31205 |
Primary Sjögren Syndrome |
|
Vaginal dryness, Xerostomia, Thyroiditis, Parotitis |
ORPHA:289390 |
Chronic Graft Versus Host Disease |
|
Phimosis, Esophageal stricture, Diarrhea, Xerostomia, Ascites, Pleural effusion, Gastroesophageal... |
ORPHA:99921 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Oral mucosal blisters, Intestinal perforation, Oral-pharyngeal dysphag... |
ORPHA:95455 |
Lambert-Eaton Myasthenic Syndrome |
|
Constipation, Xerostomia, Hypohidrosis |
ORPHA:43393 |