| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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osteitis fibrosa
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hyperparathyroid bone disease; Osteitis fibrosa cy..
[+]
hyperparathyroid bone disease; Osteitis fibrosa cystica generalisata (disorder); Von Recklinghausen's bone disease; Osteitis fibrosa cystica generalisata
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A bone resorption disease that has_material_basis_.. [+]A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
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inclusion body myositis
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HIBM; Hereditary Inclusion Body Myopathy; Distal M..
[+]
Hereditary Inclusion Body Myopathy; HIBM; Distal Myopathy with Rimmed Vacuoles (DMRV); inclusion body myopathy 3; Nonaka myopathy; Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; IBM-3; inclusion body myopathy 2; Nonaka Myopathy; IBM2
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A myositis that is characterized by late onset of .. [+]A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
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3 articles
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liver cancer
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hepatic cancer; hepatic neoplasm; ca liver - prima..
[+]
hepatic neoplasm; hepatic cancer; ca liver - primary; Ca liver - primary (disorder); malignant hepato-biliary neoplasm; malignant neoplasm of liver (disorder); malignant neoplasm of liver unspecified (disorder); malignant neoplasm of liver, primary; malignant tumor of liver (disorder); non-resectable primary hepatic malignant neoplasm; primary liver cancer; primary malignant neoplasm of liver; primary malignant neoplasm of liver NOS (disorder); malignant neoplasm of liver; neoplasm of liver (disorder); primary malignant neoplasm of liver (disorder); Ca liver - primary; malignant tumor of liver; resectable malignant neoplasm of the liver; malignant neoplasm of liver, not specified as primary or secondary; Resectable malignant neoplasm of Liver; primary malignant neoplasm of Liver; neoplasm of liver
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A hepatobiliary system cancer that is located_in t.. [+]A hepatobiliary system cancer that is located_in the liver.
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2 articles
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gestational trophoblastic neoplasm
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hydatidiform mole; gestational trophoblastic neopl..
[+]
hydatidiform mole; gestational trophoblastic neoplasia; molar pregnancy
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n_a
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Kallmann syndrome
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Hypogonadism with anosmia; Hypogonadism with anosm..
[+]
Hypogonadism with anosmia; Hypogonadism with anosmia (disorder); familial hypogonadism with anosmia; Kallman syndrome; Kallman's syndrome
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A hypogonadotropic hypogonadism with a defective s.. [+]A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
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2 articles
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antithrombin III deficiency
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hereditary thrombophilia due to congenital antithr..
[+]
hereditary thrombophilia due to congenital antithrombin deficiency; AT III deficiency
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A thrombophilia that is characterized by the tende.. [+]A thrombophilia that is characterized by the tendency to form clots in the veins.
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Lynch syndrome
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Hereditary nonpolyposis colorectal cancer syndrome..
[+]
Hereditary nonpolyposis colorectal cancer syndrome; Hereditary nonpolyposis colon cancer syndrome; Hereditary nonpolyposis colon cancer; Hereditary non-polyposis colorectal cancer syndrome; Hereditary non-polyposis colorectal cancer; Hereditary non-polyposis colon cancer syndrome; Hereditary non-polyposis colon cancer; hereditary nonpolyposis colorectal neoplasm; hereditary non-polyposis colon cancer type 1; HNPCC - hereditary nonpolyposis colon cancer; hereditary nonpolyposis colorectal cancer; Hereditary Defective Mismatch Repair syndrome; COCA 1
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A syndrome that is characterized by an increased r.. [+]A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
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progeria
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Hutchinson-Gilford Progeria syndrome; Hutchinson G..
[+]
Hutchinson-Gilford Progeria syndrome; Hutchinson Gilford syndrome; Hutchinson-Gilford disease; HGPS
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A progeroid syndrome characterized by extreme shor.. [+]A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
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3 articles
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adrenal gland hyperfunction
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hypercortisolism; hyperadrenalism; Adrenocortical ..
[+]
hyperadrenalism; hypercortisolism; Adrenocortical hyperfunction
[-]
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n_a
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2 articles
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thyroid gland carcinoma
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head and neck cancer, Thyroid; thyroid gland carci..
[+]
head and neck cancer, Thyroid; thyroid gland carcinoma
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A thyroid gland cancer that has_material_basis_in .. [+]A thyroid gland cancer that has_material_basis_in epithelial cells.
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pantothenate kinase-associated neurodegeneration
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Hallervorden-Spatz disease; Hallervorden-Spatz syn..
[+]
Hallervorden-Spatz disease; Hallervorden-Spatz syndrome; NBIA1; neurodegeneration with brain iron accumulation 1; Pigmentary pallidal degeneration (disorder); Pigmentary pallidal degeneration; brain Iron Accumulation type I syndrome
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A neurodegeneration with brain iron accumulation t.. [+]A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
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scimitar syndrome
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hypogenetic lung syndrome; Halasz syndrome; pulmon..
[+]
Halasz syndrome; hypogenetic lung syndrome; pulmonary venolobar syndrome; congenital venolobar syndrome; mirror-image lung syndrome; total anomalous pulmonary venous return; vena cava bronchovascular syndrome
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A congenital heart disease that is characterized b.. [+]A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
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renal cell carcinoma
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hypernephroma; adenocarcinoma of kidney; RCC
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A renal carcinoma that has_material_basis_in the l.. [+]A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
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allergic rhinitis
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hay fever; atopic rhinitis; Non-seasonal allergic ..
[+]
hay fever; atopic rhinitis; Non-seasonal allergic rhinitis; Perenial allergic rhinitis; pollenosis; seasonal allergic rhinitis
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A rhinitis that is an allergic inflammation and ir.. [+]A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
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1 articles
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3 matches
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central nervous system angiosarcoma
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hemangiosarcoma of the CNS
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A central nervous system sarcoma that is located_i.. [+]A central nervous system sarcoma that is located_in the inner lining of blood vessels.
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breast angiosarcoma
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hemangiosarcoma of the breast
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An angiosarcoma and sarcoma of breast and vascular.. [+]An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.
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gallbladder angiosarcoma
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hemangiosarcoma of gallbladder
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An angiosarcoma and gallbladder sarcoma that is lo.. [+]An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder.
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thyroid angiosarcoma
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hemangiosarcoma of the Thyroid
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A thyroid sarcoma and angiosarcoma that results_in.. [+]A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter.
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skin angiosarcoma
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hemangiosarcoma of the skin; angiosarcoma of skin ..
[+]
hemangiosarcoma of the skin; angiosarcoma of skin (disorder); angiosarcoma of skin
[-]
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An angiosarcoma and hemangioma of skin and maligna.. [+]An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration.
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mediastinum angiosarcoma
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hemangiosarcoma of mediastinum
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An angiosarcoma and sarcoma of the mediastinum tha.. [+]An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum.
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ovarian angiosarcoma
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hemangiosarcoma of Ovary
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An ovary sarcoma that is a malignant vascular tumo.. [+]An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels.
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familial retinoblastoma
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Hereditary Retinoblastoma
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n_a
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Klatskin's tumor
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hilar cholangiocellular carcinoma; hilar cholangio..
[+]
hilar cholangiocellular carcinoma; hilar cholangiocarcinoma; Klatskin tumor; Klatskin tumour; Perihilar extrahepatic bile duct carcinoma; Klatskin's tumour
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An intrahepatic cholangiocarcinoma arising near or.. [+]An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
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meninges hemangiopericytoma
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hemangiopericytoma of meninges; hemangiopericytoma..
[+]
hemangiopericytoma of meninges; hemangiopericytoma of meninges (disorder); Meningeal hemangiopericytoma
[-]
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n_a
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fibrolamellar carcinoma
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Hepatocellular carcinoma, fibrolamellar; Fibrolame..
[+]
Hepatocellular carcinoma, fibrolamellar; Fibrolamellar hepatocellular carcinoma; Oncocytic Hepatocellular tumor
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A hepatocellular carcinoma characterized microscop.. [+]A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.
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copper deficiency myelopathy
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human swayback; Swayback of sheep (disorder)
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A nutritional deficiency disease that is character.. [+]A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion.
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gingival hypertrophy
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hypertrophy of gingivae
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n_a
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focal epithelial hyperplasia
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Heck disease; Heck's disease; Multifocal epithelia..
[+]
Heck's disease; Heck disease; Multifocal epithelial hyperplasia
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A viral infectious disease that results_in infecti.. [+]A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.
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breast hemangiopericytoma
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hemangiopericytoma of the breast
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A hemangiopericytoma that is manifested in the bre.. [+]A hemangiopericytoma that is manifested in the breast.
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primary ovarian insufficiency
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hypergonadotropic hypogonadism; premature ovarian ..
[+]
hypergonadotropic hypogonadism; premature ovarian insufficiency; primary ovarian insufficiency; premature menopause; premature ovarian failure
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An ovarian disease where ovaries do not produce es.. [+]An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
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1 articles
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Pediculus humanus capitis infestation
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head louse infestation; Pediculosis capitis (disor..
[+]
head louse infestation; Pediculosis capitis (disorder); Pediculus capitis; Pediculus capitis [head louse]; Pediculosis capitis; Pediculus capitis infestation
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A lice infestation that involves colonization of t.. [+]A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability.
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central nervous system hematologic cancer
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hematopoietic neoplasm of central nervous system; ..
[+]
hematopoietic neoplasm of central nervous system; CNS hematopoietic tumor
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A hematologic cancer and central nervous system ne.. [+]A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
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myocardial infarction
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heart attack; Myocardial infarct
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A coronary artery disease characterized by myocard.. [+]A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
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2 articles
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familial renal papillary carcinoma
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Hereditary Papillary renal carcinoma
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n_a
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cerebellar angioblastoma
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Hemangioblastoma of Cerebellum
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n_a
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brain stem angioblastoma
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Hemangioblastoma of Brainstem
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A brain stem cancer that is characterized by slow .. [+]A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells.
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nervous system hibernoma
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Hibernoma of nervous system
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n_a
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bone epithelioid hemangioma
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hemangioma of bone; osseous epithelioid hemangioma..
[+]
hemangioma of bone; osseous epithelioid hemangioma; bone hemangioma; osseous hemangioma
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n_a
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X-linked hyper IgM syndrome
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hyper-IgM syndrome 1; hyper-IgM syndrome type 1; h..
[+]
hyper-IgM syndrome type 1; hyper-IgM syndrome 1; hyper-IgM immunodeficiency syndrome type 1; HIGM1; hyperimmunoglobulin M syndrome (disorder); hyperimmunoglobulin M syndrome; immunodeficiency with hyper-IgM type 1; X-linked hyper-IgM immunodeficiency; XHIM
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A hyper IgM syndrome that is characterized by neut.. [+]A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
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cerebral angioma
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hemangioma of Cerebrum
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A brain angioma that is characterized by vascular .. [+]A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen.
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tooth and nail syndrome
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Hypoplastic enamel-onycholysis-hypohidrosis syndro..
[+]
Hypoplastic enamel-onycholysis-hypohidrosis syndrome; Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder); Tooth and Nail syndrome; Witkop's syndrome
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A syndrome that affects the teeth, nails, hair, an.. [+]A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
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autoimmune thyroiditis
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Hashimoto's syndrome; Hashimoto's Disease; Hashimo..
[+]
Hashimoto's Disease; Hashimoto's syndrome; Hashimoto's thyroiditis; Hashimoto thyroiditis; Lymphocytic Thyroiditis; Chronic Lymphocytic Thyroiditis
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An autoimmune disease of endocrine system that inv.. [+]An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
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synovial angioma
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hemangioma of Synovium
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n_a
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osteoarthritis
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hypertrophic arthritis; degenerative arthritis; de..
[+]
hypertrophic arthritis; degenerative arthritis; degenerative joint disease; osteoarthrosis; Osteoarthrosis and allied disorder
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An arthritis that has_material_basis_in worn out c.. [+]An arthritis that has_material_basis_in worn out cartilage located_in joint.
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3 articles
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reticulosarcoma
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histiocytic lymphoma; large-cell Lymphomas
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n_a
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duodenitis
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Hemorrhagic duodenitis
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n_a
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genital herpes
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HERPES GENITALIA; Herpes Genitalis; Genital herpes..
[+]
Herpes Genitalis; HERPES GENITALIA; Genital herpes simplex (disorder); venereal herpes; Genital herpes simplex; Virus-Genital Herpes
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A herpes simplex that results_in infection located.. [+]A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.
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gastric mucosal hypertrophy
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hypertrophic gastritis; hypertrophic gastropathy; ..
[+]
hypertrophic gastropathy; hypertrophic gastritis; hypertrophic gastropathy (disorder); familial giant hypertrophic gastritis; Giant rugal hypertrophy of stomach; MENETRIER DISEASE
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n_a
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severe nonproliferative diabetic retinopathy
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High risk non proliferative diabetic retinopathy; ..
[+]
High risk non proliferative diabetic retinopathy; Severe NPDR
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n_a
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eczema herpeticum
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herpes simplex virus eyelid dermatitis; Herpes sim..
[+]
herpes simplex virus eyelid dermatitis; Herpes simplex eyelid dermatitis; Herpes simplex dermatitis of eyelid; Herpes simplex virus dermatitis; Herpes simplex eyelid dermatitis (disorder); Herpes simplex dermatitis of eyelid (disorder); herpes simplex dermatitis; Eczema herpeticum (disorder) [Ambiguous]; Eczema herpeticum (disorder); Eczema herpeticum
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A herpes simplex that results_in infection located.. [+]A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.
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