| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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factor XI deficiency
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Hereditary factor XI deficiency disease; hemophili..
[+]
Hereditary factor XI deficiency disease; hemophilia C; Congenital factor XI deficiency; plasma thromboplastin antecedent deficiency; Rosenthal's disease
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n_a
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factor XII deficiency
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Hageman Factor deficiency; deficiency, Hageman; Fa..
[+]
Hageman Factor deficiency; deficiency, Hageman; Factor XII deficiency disease
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n_a
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prothrombin deficiency
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hypoprothrombinemia; Factor II deficiency
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n_a
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thrombophilia
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hypercoagulability state
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n_a
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motor peripheral neuropathy
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HSMN - Hereditary sensory and motor neuropathy; HS..
[+]
HSMN - Hereditary sensory and motor neuropathy; HSMN; Hereditary motor and sensory neuropathy; neuropathic muscular atrophy; Peripheral Motor Neuropathy
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A neuropathy that is characterized by inflammation.. [+]A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
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intracranial structure hemangioma
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hemangioma of intracranial structures (disorder); ..
[+]
hemangioma of intracranial structures (disorder); hemangioma of intracranial structures; hemangioma of intracranial structure (disorder); Angioma of intracranial Structure
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n_a
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Langerhans-cell histiocytosis
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Histiocytosis X; Langerhan's cell histiocytosis (d..
[+]
Histiocytosis X; Langerhan's cell histiocytosis (disorder); Langerhans cell granulomatosis; Letterer-Siwe disease; Letterer-Siwe disease involving intra-abdominal lymph nodes; Letterer-Siwe disease involving intrapelvic lymph nodes; Letterer-Siwe disease involving intrathoracic lymph nodes; Letterer-Siwe disease involving lymph nodes of axilla and upper limb; Letterer-Siwe disease involving lymph nodes of head, face and neck; Letterer-Siwe disease involving lymph nodes of head, face, and neck; Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb; Letterer-Siwe disease involving lymph nodes of multiple sites; Letterer-Siwe disease involving spleen; Letterer-Siwe disease of intra-abdominal lymph nodes; Letterer-Siwe disease of intra-abdominal lymph nodes (disorder); Letterer-Siwe disease of intrapelvic lymph nodes; Letterer-Siwe disease of intrapelvic lymph nodes (disorder); Letterer-Siwe disease of intrathoracic lymph nodes; Letterer-Siwe disease of intrathoracic lymph nodes (disorder); Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder); Letterer-Siwe disease of lymph nodes of axilla and/or upper limb; Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder); Letterer-Siwe disease of lymph nodes of head, face and neck (disorder); Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder); Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb; Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder); Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder); Letterer-Siwe disease of lymph nodes of multiple sites; Letterer-Siwe disease of lymph nodes of multiple sites (disorder); Letterer-Siwe disease of spleen; Letterer-Siwe disease of spleen (disorder)
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A histiocytosis that is characterized by clonal pr.. [+]A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
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agammaglobulinemia
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hypogammaglobulinemia; IGHM; mu heavy chain defici..
[+]
hypogammaglobulinemia; IGHM; mu heavy chain deficiency
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A B cell deficiency that is caused by a reduction .. [+]A B cell deficiency that is caused by a reduction in all types of gamma globulins.
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Gilbert syndrome
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hereditary nonhemolytic jaundice; Constitutional h..
[+]
hereditary nonhemolytic jaundice; Constitutional hyperbilirubinemia; Gilbert's disease; Gilbert's syndrome; Gilbert-Meulengracht syndrome
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A bilirubin metabolic disorder that involves eleva.. [+]A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
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bilirubin metabolic disorder
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hyperbilirubinaemia; hyperbilirubinemia; hereditar..
[+]
hyperbilirubinemia; hyperbilirubinaemia; hereditary hyperbilirubinemia
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An inherited metabolic disorder that involves elev.. [+]An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
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glycogen storage disease VIII
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hepatic glycogen phosphorylase kinase deficiency; ..
[+]
hepatic glycogen phosphorylase kinase deficiency; hepatic glycogen phosphorylase kinase deficiency (disorder); glycogen storage disease type VIII; Glycogen storage disease type VIII (disorder); glycogenosis type VIII; Glycogen storage disease 8
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A glycogen storage disease that is characterized h.. [+]A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
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glycogen storage disease VI
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Hers' disease; hepatophosphorylase deficiency glyc..
[+]
Hers' disease; hepatophosphorylase deficiency glycogenosis; hepatic glycogen phosphorylase deficiency (disorder); glycogen storage disease type VI
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A glycogen storage disease characterized by enlarg.. [+]A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
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acute interstitial pneumonia
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Hamman-Rich disease; Hamman-Rich syndrome; acceler..
[+]
Hamman-Rich syndrome; Hamman-Rich disease; accelerated interstitial pneumonia; acute interstitial pneumonitis; AIP; Idiopathic pulmonary fibrosis, acute fatal form
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A idiopathic interstitial pneumonia which develops.. [+]A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
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congenital nonspherocytic hemolytic anemia
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hereditary nonspherocytic hemolytic anemia; HNSHA; ..
[+]
HNSHA; hereditary nonspherocytic hemolytic anemia
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n_a
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Goldenhar syndrome
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HEMIFACIAL MICROSOMIA; Facio-auriculo-vertebral sp..
[+]
HEMIFACIAL MICROSOMIA; Facio-auriculo-vertebral spectrum (disorder); First AND second branchial arch syndrome; First arch syndrome (disorder); OAV (oculoauriculovertebral) dysplasia; Otomandibular dysostosis (disorder)
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A syndrome that is characterized by incomplete dev.. [+]A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
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Klippel-Trenaunay syndrome
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Haemangiectatic hypertrophy; angioosteohypertrophy..
[+]
Haemangiectatic hypertrophy; angioosteohypertrophy syndrome; Klippel-Trenaunay-Weber syndrome
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A syndrome that is characterized by large cutaneou.. [+]A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
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acute porphyria
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hepatic porphyria (disorder)
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A porphyria that has_symptom abdominal pain, has_s.. [+]A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
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incontinentia pigmenti achromians
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Hypomelanosis of Ito; Bloch-Siemans syndrome; Inco..
[+]
Hypomelanosis of Ito; Bloch-Siemans syndrome; Incontinentia pigmenti achromians syndrome; Incontinentia pigmenti syndrome; Ito's nevus; nevus of Ito
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n_a
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schwannoma of twelfth cranial nerve
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Hypoglossal Schwannoma
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A neurilemmoma that is located_in the 12th cranial.. [+]A neurilemmoma that is located_in the 12th cranial nerve.
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Pelizaeus-Merzbacher disease
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HLD1; hypomyelinating leukodystrophy 1; diffuse fa..
[+]
hypomyelinating leukodystrophy 1; HLD1; diffuse familial brain sclerosis; Leukodystrophy, sudanophilic; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; PMD; sudanophilic leukodystrophy, Paelizeus-Merzbacher type
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A hypomyelinating leukodystrophy characterized by .. [+]A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
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Job's syndrome
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hyperimmunoglobulin E syndrome; Job syndrome
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n_a
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Tay-Sachs disease
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hexosaminidase A deficiency; disease, Tay-Sachs; T..
[+]
hexosaminidase A deficiency; disease, Tay-Sachs; Tay-Sachs disease (disorder)
[-]
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n_a
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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
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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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Hereditary Inclusion Body Myopathy; HIBM; Distal M..
[+]
HIBM; Hereditary Inclusion Body Myopathy; Distal Myopathy with Rimmed Vacuoles (DMRV); Distal myopathy, Nonaka type; IBM-3; IBM2; inclusion body myopathy 2; inclusion body myopathy 3; Nonaka Myopathy; Nonaka myopathy
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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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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; malignant neoplasm of liver (disorder); malignant neoplasm of liver unspecified (disorder); malignant neoplasm of liver, not specified as primary or secondary; malignant neoplasm of liver, primary; malignant tumor of liver (disorder); neoplasm of liver (disorder); non-resectable primary hepatic malignant neoplasm; primary liver cancer; primary malignant neoplasm of Liver; primary malignant neoplasm of liver; primary malignant neoplasm of liver (disorder); primary malignant neoplasm of liver NOS (disorder); Resectable malignant neoplasm of Liver; resectable malignant neoplasm of the liver
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A gastrointestinal system cancer that is located_i.. [+]A gastrointestinal system cancer that is located_in the liver.
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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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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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An inherited blood coagulation disease characteriz.. [+]An inherited blood coagulation disease 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; HNPCC - hereditary nonpolyposis colon cancer; hereditary nonpolyposis colorectal neoplasm; hereditary nonpolyposis colorectal cancer; hereditary non-polyposis colon cancer type 1; 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 disease; Hutchinson Gilford syndrome; HGPS
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n_a
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adrenal gland hyperfunction
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hyperadrenalism; hypercortisolism; Adrenocortical ..
[+]
hypercortisolism; hyperadrenalism; Adrenocortical hyperfunction
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n_a
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thyroid carcinoma
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head and neck cancer, Thyroid
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A thyroid cancer that has_material_basis_in epithe.. [+]A thyroid cancer that has_material_basis_in epithelial cells.
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pantothenate kinase-associated neurodegeneration
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Hallervorden-Spatz syndrome; Hallervorden-Spatz di..
[+]
Hallervorden-Spatz syndrome; Hallervorden-Spatz disease; brain Iron Accumulation type I syndrome; NBIA1; neurodegeneration with brain iron accumulation 1; Pigmentary pallidal degeneration (disorder); Pigmentary pallidal degeneration
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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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Halasz syndrome; hypogenetic lung syndrome; pulmon..
[+]
hypogenetic lung syndrome; Halasz syndrome; pulmonary venolobar syndrome; total anomalous pulmonary venous return; congenital venolobar syndrome; mirror-image lung syndrome; 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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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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n_a
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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 cholangiocarcinoma; Klatskin tumor; Perihila..
[+]
hilar cholangiocarcinoma; Klatskin tumor; Perihilar extrahepatic bile duct carcinoma
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n_a
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meninges hemangiopericytoma
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hemangiopericytoma of meninges (disorder); Meninge..
[+]
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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