| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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glycogen storage disease III
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amylo 1,6 glucosidase deficiency; deficiency of de..
[+]
amylo 1,6 glucosidase deficiency; deficiency of dextrin; Glycogen storage disease, type III (disorder); Glycogen storage disease, type III; deficiency of debranching enzyme; Glycogen storage disease 3
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A glycogen storage disease that is characterized b.. [+]A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
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glycogen storage disease IV
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Amylopectinosis; Branching-transferase deficiency ..
[+]
Amylopectinosis; Branching-transferase deficiency glycogenosis (disorder); deficiency of 1,4-alpha-glucan branching enzyme; Glycogen storage disease, type IV (disorder); brancher deficiency glycogenosis; Branching-transferase deficiency glycogenosis; Glycogen storage disease, type IV; Glycogen storage disease 4
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A glycogen storage disease that has_material_basis.. [+]A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
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glycogen storage disease II
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acid maltase deficiency; deficiency of maltase; Ge..
[+]
acid maltase deficiency; deficiency of maltase; Generalized glycogenosis (disorder); glycogen storage disease type II; Glycogenosis, type 2; Lysosomal alpha-1,4-glucosidase deficiency (disorder); Glycogen storage disease, type II (disorder); Lysosomal alpha-1,4-glucosidase deficiency; Generalized glycogenosis; Pompe's disease; deficiency of glucoamylase; Glycogen storage disease, type II; Glycogen storage disease 2
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A glycogen storage disease that has_material_basis.. [+]A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
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ethmoid sinus adenoid cystic carcinoma
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adenoid cystic carcinoma of the ethmoid sinus; ade..
[+]
adenoid cystic carcinoma of the ethmoid sinus; adenoid cystic carcinoma of ethmoid sinus
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n_a
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ethmoid sinus adenocarcinoma
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adenocarcinoma of the ethmoid sinus; adenocarcinom..
[+]
adenocarcinoma of the ethmoid sinus; adenocarcinoma of ethmoid sinus
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An ethmoid sinus cancer that derives from epitheli.. [+]An ethmoid sinus cancer that derives from epithelial cells of glandular origin.
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long bone adamantinoma
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adamantinoma of long bones (morphologic abnormalit..
[+]
adamantinoma of long bones (morphologic abnormality); adamantinoma of long bones; adamantinoma of long bone (disorder); adamantinoma of long bone
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An adamantinoma that is located_in the long bones .. [+]An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.
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Dandy-Walker syndrome
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Atresia of foramina of Magendie and Luschka
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A cerebellar disease that is characterized by hypo.. [+]A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
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endometrial adenocarcinoma
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adenocarcinoma of uterus; adenocarcinoma of endome..
[+]
adenocarcinoma of uterus; adenocarcinoma of endometrium; adenocarcinoma of uterus (disorder); adenocarcinoma of the Endometrium; adenocarcinoma of endometrium (disorder); endometrial adenoacanthoma; endometrioid adenoma or carcinoma NOS (morphologic abnormality); endometrioid adenomas and carcinomas (morphologic abnormality); endometrial endometrioid adenocarcinoma; endometrioid adenoma or carcinoma; endometrioid adenomas and carcinomas; endometrial endometrioid adenocarcinoma with squamous differentiation; endometrioid carcinoma of Endometrium
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An endometrial carcinoma that derives_from epithel.. [+]An endometrial carcinoma that derives_from epithelial cells of glandular origin.
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prostatic adenoma
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adenoma of prostate; adenoma - prostate; benign ad..
[+]
adenoma - prostate; adenoma of prostate; benign adenoma of prostate; benign adenoma of prostate (disorder); prostate adenoma
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A male reproductive organ benign neoplasm that der.. [+]A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
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thyroid adenoma
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adenoma of thyroid gland
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An endocrine organ benign neoplasm that is located.. [+]An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
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1 articles
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Klippel-Trenaunay syndrome
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angioosteohypertrophy syndrome; Haemangiectatic hy..
[+]
angioosteohypertrophy syndrome; Haemangiectatic hypertrophy; 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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cecum adenocarcinoma
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adenocarcinoma of cecum (disorder); adenocarcinoma..
[+]
adenocarcinoma of cecum (disorder); adenocarcinoma of cecum; Cecal adenocarcinoma
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A cecum carcinoma that derives_from epithelial cel.. [+]A cecum carcinoma that derives_from epithelial cells of glandular origin.
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Churg-Strauss syndrome
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Allergic Granulomatous Angiitis; Allergic granulom..
[+]
Allergic Granulomatous Angiitis; Allergic granulomatosis angiitis; Allergic granulomatosis angiitis (disorder); Churg-Strauss vasculitis
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A vasculitits that is systemic vasculitis realized.. [+]A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
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glioblastoma
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adult glioblastoma multiforme; GBM; GBM (Glioblast..
[+]
adult glioblastoma multiforme; GBM; GBM (Glioblastoma); grade IV adult Astrocytic tumor; primary glioblastoma multiforme; spongioblastoma multiforme; glioblastoma multiforme
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A malignant astrocytoma characterized by the prese.. [+]A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
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6 articles
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8 matches
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malignant astrocytoma
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Astrocytoma, NOS; astroglioma; astrocytoma of Cere..
[+]
astroglioma; Astrocytoma, NOS; astrocytoma of Cerebrum; astrocytoma of brain; astrocytoma, no ICD-O subtype (morphologic abnormality); astrocytoma of brain (disorder); Astrocytic tumor; cerebral astrocytoma
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A malignant glioma that is has_material_basis_in a.. [+]A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
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6 articles
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8 matches
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gingivitis
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acute gingivitis; chronic gingivitis
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n_a
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pleomorphic rhabdomyosarcoma
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anaplastic Rhabdomyosarcoma; Pleomorphic rhabdomyo..
[+]
anaplastic Rhabdomyosarcoma; Pleomorphic rhabdomyosarcoma (disorder); Pleomorphic rhabdomyosarcoma, adult type
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n_a
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Tay-Sachs disease
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A GM2 gangliosidosis that is characterized the ons..
[+]
A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.; disease, Tay-Sachs; hexosaminidase A deficiency; Tay-Sachs disease (disorder); GM2 gangliosidosis, type 1
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A GM2 gangliosidosis that is characterized onset i.. [+]A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
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coronary aneurysm
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Aneurysmal lesion of coronary artery; Arteriovenou..
[+]
Aneurysmal lesion of coronary artery; Arteriovenous aneurysm of coronary vessels; Aneurysm of coronary vessels
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n_a
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breast adenocarcinoma
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adenocarcinoma of breast; Mammary adenocarcinoma
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A breast carcinoma that originates in the milk duc.. [+]A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
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extrahepatic bile duct adenocarcinoma
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adenocarcinoma of the extrahepatic bile duct; aden..
[+]
adenocarcinoma of the extrahepatic bile duct; adenocarcinoma of extrahepatic bile duct
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An extrahepatic bile duct carcinoma that derives_f.. [+]An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.
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gallbladder adenocarcinoma
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adenocarcinoma of the gallbladder
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A gallbladder carcinoma that derives_from epitheli.. [+]A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
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Canavan disease
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ASPA DEFICIENCY; ASPARTOACYLASE DEFICIENCY; ASP DE..
[+]
ASPARTOACYLASE DEFICIENCY; ASPA DEFICIENCY; ASP DEFICIENCY; AMINOACYLASE 2 DEFICIENCY; ACY2 DEFICIENCY; CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degeneration of central nervous system
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A leukodystrophy characterized by onset in early i.. [+]A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.
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infiltrating angiolipoma
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Angiolipoma, infiltrating; Angiolipoma, infiltrati..
[+]
Angiolipoma, infiltrating; Angiolipoma, infiltrating (morphologic abnormality); Infiltrating angiolipoma
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An angiolipoma that is characterized by prominent .. [+]An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue.
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epidural spinal canal angiolipoma
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Angiolipoma of Extradural Spinal canal
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n_a
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wheat allergy
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allergy to wheat; wheat allergic reaction
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A food allergy that develops_from exposure to and .. [+]A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis.
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cervical adenocarcinoma
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adenocarcinoma of cervix; adenocarcinoma cervix ut..
[+]
adenocarcinoma of cervix; adenocarcinoma cervix uteri; adenocarcinoma of the uterine Cervix; adenocarcinoma of cervix (disorder)
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A cervix carcinoma that derives_from epithelial ce.. [+]A cervix carcinoma that derives_from epithelial cells of glandular origin.
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prostate colloid adenocarcinoma
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acinar Colloid prostate adenocarcinoma
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A prostate adenocarcinoma that produces mucin and .. [+]A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure.
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fallopian tube adenocarcinoma
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adenocarcinoma of the fallopian tube
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A fallopian tube carcinoma that derives_from epith.. [+]A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
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bladder adenocarcinoma
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adenocarcinoma of bladder; adenocarcinoma of the u..
[+]
adenocarcinoma of bladder; adenocarcinoma of the urinary bladder; adenocarcinoma of bladder (disorder); bladder adenocarcinoma, Not Otherwise Specified
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A bladder carcinoma that derives_from epithelial c.. [+]A bladder carcinoma that derives_from epithelial cells of glandular origin.
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ovary adenocarcinoma
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adenocarcinoma of the ovary; ovarian adenoacanthom..
[+]
adenocarcinoma of the ovary; ovarian adenoacanthoma; Ovarian adenocarcinoma
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An ovarian carcinoma that derives_from epithelial .. [+]An ovarian carcinoma that derives_from epithelial cells of glandular origin.
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gastric adenocarcinoma
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adenocarcinoma of stomach; adenocarcinoma of stoma..
[+]
adenocarcinoma of stomach; adenocarcinoma of stomach (disorder); stomach adenocarcinoma
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A stomach carcinoma that derives_from epithelial c.. [+]A stomach carcinoma that derives_from epithelial cells of glandular origin.
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pleural empyema
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abscess of pleural cavity; abscess of thorax; empy..
[+]
abscess of thorax; abscess of pleural cavity; empyema; Empyema (& pleural); Empyema of pleura; Empyema with fistula (& pleural); Empyema with pleural fistula; Empyema without mention of fistula; lung empyema; Pleural empyema with fistula; pleural empyema with no fistula; pyothorax; Thorax abscess; Empyema, chest; Purulent pleurisy; Empyema; Empyema of pleura without fistula; Empyema with fistula; Empyema with no fistula; purulent pleuritis; empyema with fistula
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A soft tissue infectious disease that involves acc.. [+]A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
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pituitary adenoma
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adenoma of the Pituitary gland
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A pituitary gland benign neoplasm that derives_fro.. [+]A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
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large cell medulloblastoma
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Anaplastic medulloblastoma; large cell medulloblas..
[+]
Anaplastic medulloblastoma; large cell medulloblastoma (morphologic abnormality); large cell Medulloblastoma
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A medulloblastoma that is characterized by cells t.. [+]A medulloblastoma that is characterized by cells that are larger than would be normally expected.
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hidrocystoma
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Apocrine cystadenoma; apocrine cystadenoma; Apocri..
[+]
apocrine cystadenoma; Apocrine cystadenoma; Apocrine cystadenoma (disorder); Apocrine Cystadenoma; Eccrine Cystadenoma; Eccrine hidrocystoma of skin (disorder); Hidrocystoma (morphologic abnormality); Hidrocystoma; Eccrine hidrocystoma of skin
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n_a
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lung adenocarcinoma
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adenocarcinoma of lung; bronchogenic lung adenocar..
[+]
adenocarcinoma of lung; bronchogenic lung adenocarcinoma; nonsmall cell adenocarcinoma
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A lung non-small cell carcinoma that derives_from .. [+]A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.
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1 articles
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scirrhous adenocarcinoma
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adenocarcinoma with Productive Fibrosis; Scirrhous..
[+]
adenocarcinoma with Productive Fibrosis; Scirrhous adenocarcinoma (morphologic abnormality)
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An adenocarcinoma that results in a hard structure.. [+]An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
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gastritis
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acute gastric mucosal erosion; Erosive Gastritis; ..
[+]
acute gastric mucosal erosion; Erosive Gastritis; Erosive gastropathy
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A stomach disease that is an inflammation of the l.. [+]A stomach disease that is an inflammation of the lining of the stomach.
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1 articles
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pancreatic adenocarcinoma
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adenocarcinoma of the pancreas; pancreas adenocarc..
[+]
adenocarcinoma of the pancreas; pancreas adenocarcinoma
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A pancreatic carcinoma that derives_from epithelia.. [+]A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
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1 articles
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uterine corpus adenosarcoma
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adenosarcoma of uterine corpus; uterine Corpus mul..
[+]
adenosarcoma of uterine corpus; uterine Corpus mullerian adenosarcoma
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An adenosarcoma and malignant uterine body mixed n.. [+]An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.
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clear cell sarcoma
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adult soft part clear cell sarcoma; Clear cell sar..
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adult soft part clear cell sarcoma; Clear cell sarcoma (morphologic abnormality); malignant melanoma of soft parts; melanoma, malignant, of soft parts; malignant melanoma of soft tissues (disorder); Clear cell sarcoma; Clear cell sarcoma of soft Parts; malignant melanoma of soft tissues
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A sarcoma that is characterized by solid nests and.. [+]A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
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epidermolysis bullosa acquisita
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acquired epidermolysis bullosa (disorder); acquire..
[+]
acquired epidermolysis bullosa (disorder); acquired epidermolysis bullosa
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An acquired epidermolysis bullosa that is characte.. [+]An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen.
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egg allergy
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Allergy to eggs
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A food allergy that is an allergy or hypersensitiv.. [+]A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
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peanut allergy
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allergy to peanuts; peanut allergic reaction
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A legume allergy that is an allergy or hypersensit.. [+]A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.
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nut allergy
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allergy to nuts; nut allergic reaction
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A food allergy that develops_from exposure to and .. [+]A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis.
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orbit alveolar rhabdomyosarcoma
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Alveolar Rhabdomyosarcoma of the orbit
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An orbit rhabdomyosarcoma that is characterized by.. [+]An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form.
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pustulosis of palm and sole
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Acropustulosis; Palmoplantar Pustulosis; Pustular ..
[+]
Acropustulosis; Palmoplantar Pustulosis; Pustular psoriasis of the palms and/or soles
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n_a
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renal cell carcinoma
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adenocarcinoma of kidney; RCC; hypernephroma
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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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skin angiosarcoma
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angiosarcoma of skin; angiosarcoma of skin (disord..
[+]
angiosarcoma of skin; angiosarcoma of skin (disorder); hemangiosarcoma of the 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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