| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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mesenchymal cell neoplasm
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benign miscellaneous mesenchymal tumor; mesenchyma..
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benign miscellaneous mesenchymal tumor; mesenchymal tumor
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A cell type cancer that has_material_basis_in abno.. [+]A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
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Ewing sarcoma of bone
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bone Ewing sarcoma; bone localized Ewing's sarcoma..
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bone Ewing sarcoma; bone localized Ewing's sarcoma; bone localized Ewing sarcoma; bone Ewing's sarcoma; localized Skeletal Ewing's sarcoma; Skeletal Ewing's tumor; Ewing's sarcoma of bone; Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor
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A peripheral primitive neuroectodermal tumor that .. [+]A peripheral primitive neuroectodermal tumor that is located_in bone.
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Turner syndrome
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Bonnevie-Ullrich syndrome; Gonadal dysgenesis - Tu..
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Bonnevie-Ullrich syndrome; Gonadal dysgenesis - Turner; Karyotype 45, X; Monosomy X; XO syndrome; monosomy X syndrome
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A gonadal dysgenesis that is characterized by shor.. [+]A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
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1 articles
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Crigler-Najjar syndrome
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Bilirubin UDP glucuronyl transferase deficiency; C..
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Bilirubin UDP glucuronyl transferase deficiency; Crigler Najjar syndrome; Crigler-Najjar syndrome, type I (disorder); Crigler-Najjar syndrome, type I
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A bilirubin metabolic disorder that involves a bui.. [+]A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
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lung adenocarcinoma
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bronchogenic lung adenocarcinoma; adenocarcinoma o..
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bronchogenic lung adenocarcinoma; adenocarcinoma of lung; 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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pantothenate kinase-associated neurodegeneration
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brain Iron Accumulation type I syndrome; Hallervor..
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brain Iron Accumulation type I syndrome; Hallervorden-Spatz syndrome; NBIA1; neurodegeneration with brain iron accumulation 1; Pigmentary pallidal degeneration (disorder); Hallervorden-Spatz disease; 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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penis basal cell carcinoma
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basal cell carcinoma of the penis
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n_a
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scrotum basal cell carcinoma
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Basal cell carcinoma of scrotum; basal cell carcin..
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Basal cell carcinoma of scrotum; basal cell carcinoma of the scrotum
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n_a
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nodular basal cell carcinoma
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Basal cell carcinoma, nodular; Basal cell carcinom..
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Basal cell carcinoma, nodular; Basal cell carcinoma, nodular (morphologic abnormality); Circumscribed solid basal cell carcinoma; skin nodulo-ulcerative basal cell carcinoma; skin solid (nodular) Basal cell carcinoma
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A basal cell carcinoma characterized by elevated, .. [+]A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
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metatypical basal cell carcinoma
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Basosquamous carcinoma of skin (disorder); skin me..
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Basosquamous carcinoma of skin (disorder); skin metatypical basal cell carcinoma; skin Metatypical carcinoma
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n_a
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anal margin basal cell carcinoma
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Basal cell carcinoma of Perianal skin; basal cell ..
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Basal cell carcinoma of Perianal skin; basal cell carcinoma of anal margin
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A basal cell carcinoma that is located_in the anal.. [+]A basal cell carcinoma that is located_in the anal margin.
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external ear basal cell carcinoma
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basal cell carcinoma of external ear; Basal cell c..
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basal cell carcinoma of external ear; Basal cell carcinoma of the External ear
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n_a
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adamantinoid basal cell epithelioma
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Basal cell carcinoma - adamantinoid; Basal cell ca..
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Basal cell carcinoma - adamantinoid; Basal cell carcinoma - adamantinoid (disorder); skin adamantinoid basal cell epithelioma; Melanotic adamantinoma of skin (disorder); Melanotic adamantinoma of skin
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n_a
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morpheaform basal cell carcinoma
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Basal cell carcinoma, morphea; Morphea-type (Scler..
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Basal cell carcinoma, morphea; Morphea-type (Sclerosing) Basal cell carcinoma; Cicatricial basal-cell carcinoma
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n_a
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vulva basal cell carcinoma
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Basal cell carcinoma of Vulva; basal cell carcinom..
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Basal cell carcinoma of Vulva; basal cell carcinoma of the vulva
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A vulva carcinoma that has_material_basis_in basal.. [+]A vulva carcinoma that has_material_basis_in basal cells.
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malignant breast melanoma
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breast melanoma; malignant melanoma of breast (dis..
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breast melanoma; malignant melanoma of breast (disorder); malignant melanoma of breast
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A breast cancer that arises_from melanocytes.
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fibrous histiocytoma
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benign fibrous histiocytoma; benign fibrous histio..
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benign fibrous histiocytoma; benign fibrous histiocytoma (morphologic abnormality); fibrous histiocytoma NOS (morphologic abnormality); Fibroxanthoma NOS (morphologic abnormality); fibrous Histiocytoma; Fibroxanthoma
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n_a
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cutaneous fibrous histiocytoma
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benign Cutaneous fibrous Histiocytoma; dermatofibr..
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benign Cutaneous fibrous Histiocytoma; dermatofibroma; Dermatofibroma, no ICD-O subtype (morphologic abnormality); Fibrohistiocytic neoplasm; fibrohistiocytic tumor; fibrous histiocytoma of skin (disorder); fibrous xanthoma of skin (disorder); Pleomorphic fibroma; Sclerosing angioma (morphologic abnormality); Dermatofibroma NOS; Fibrohistiocytic tumor (disorder); Sclerosing angioma of skin; fibrous histiocytoma of skin; Sclerosing angioma; fibrous xanthoma of skin; Fibrohistiocytic tumor; Dermatofibroma
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n_a
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avian influenza
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bird flu; avian flu
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An influenza that results in infection located in .. [+]An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.
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epidermolytic hyperkeratosis
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Bullous ichthyosiform erythroderma; Bullous ichthy..
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Bullous ichthyosiform erythroderma; Bullous ichthyosiform erythroderma (disorder); bullous congenital ichthyosiform erythroderma; Epidermolytic palmoplantar hyperkeratosis; epidermolytic ichthyosis
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An ichthyosis that is characterized by generalized.. [+]An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.
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infratentorial cancer
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brain neoplasm, Infratentorial; malignant Infraten..
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brain neoplasm, Infratentorial; malignant Infratentorial tumors
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A brain cancer that is located_in the infratentori.. [+]A brain cancer that is located_in the infratentorial region.
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1 articles
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6 matches
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pulmonary blastoma
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Blastoma of lung
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A lung cancer that has_material_basis_in tissues o.. [+]A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children.
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embryoma
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Blastoma
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A carcinosarcoma and embryonal cancer that is loca.. [+]A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells.
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myelofibrosis
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bone Marrow Fibrosis; Aleukemic myelosis; Megakary..
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bone Marrow Fibrosis; Aleukemic myelosis; Megakaryocytic myelosclerosis; myelosclerosis; Agnogenic myeloid metaplasia; primary myelofibrosis
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A myeloid neoplasm that is located in the bone mar.. [+]A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.
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essential tremor
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benign essential tremor; essential hereditary trem..
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benign essential tremor; essential hereditary tremor; shaky hand syndrome
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A movement disorder that causes involuntary tremor.. [+]A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
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1 articles
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myoblastoma
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benign granular cell tumor
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n_a
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pilomatrixoma
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benign pilomatricoma; Pilomatricoma
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n_a
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variant Creutzfeldt-Jakob disease
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Bovine spongiform encephalopathy; bovine spongifor..
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Bovine spongiform encephalopathy; bovine spongiform encephalopathy; Bovine spongiform encephalopathy (disorder)
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n_a
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spiradenoma
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benign eccrine spiradenoma; Eccrine spiradenoma (m..
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benign eccrine spiradenoma; Eccrine spiradenoma (morphologic abnormality); Eccrine spiradenoma of skin; Eccrine spiradenoma
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n_a
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Pediculus humanus corporis infestation
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body louse infestation; Pediculus corporis; Pedicu..
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body louse infestation; Pediculus corporis; Pediculus humanus infestation; Pediculus corporis [body louse]
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A lice infestation that is a cutaneous condition c.. [+]A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever.
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squamous cell bile duct carcinoma
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bile duct squamous cell carcinoma
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A squamous cell carcinoma that is located_in the b.. [+]A squamous cell carcinoma that is located_in the bile duct.
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adenosquamous bile duct carcinoma
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bile duct Adenosquamous carcinoma
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A bile duct carcinoma that derives_from squamous c.. [+]A bile duct carcinoma that derives_from squamous cells and gland-like cells.
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hereditary breast ovarian cancer syndrome
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Breast and Ovarian Cancer syndrome; BRCA1- and BRC..
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Breast and Ovarian Cancer syndrome; BRCA1- and BRCA2-associated hereditary breast and ovarian cancer; BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC); HBOC syndrome; Hereditary breast and ovarian cancer; Hereditary Breast and Ovarian Cancer syndrome
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A syndrome characterized by the higher than normal.. [+]A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.
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MHC class II deficiency
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bare lymphocyte syndrome type II; BLSII; SCID due ..
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BLSII; bare lymphocyte syndrome type II; SCID due to absent class II HLA antigens (disorder); SCID due to absent class II HLA antigens
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A severe combined immunodeficiency that is charact.. [+]A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
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cerebral lymphoma
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brain primary lymphoma; primary cerebral lymphoma ..
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brain primary lymphoma; primary cerebral lymphoma (disorder); primary Lymphoma of Cerebrum; primary cerebral lymphoma
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A cerebrum cancer that affects the lymph cells and.. [+]A cerebrum cancer that affects the lymph cells and derives_from the brain.
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non-invasive bladder papillary urothelial neoplasm
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bladder PUNLMP; bladder papillary neoplasm of low ..
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bladder PUNLMP; bladder papillary neoplasm of low malignant potential; Papillary urothelial neoplasm of low malignant potential
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n_a
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chronic lymphocytic leukemia/small lymphocytic lymphoma
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B-cell lymphocytic leukemia/small lymphocytic lymp..
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B-cell lymphocytic leukemia/small lymphocytic lymphoma; chronic lymphocytic leukemia/small lymphocytic lymphoma; chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality); CLL/SLL; ICDO:9823/3
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A chronic lymphocytic leukemia that is characteriz.. [+]A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes.
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Froelich syndrome
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Babinski-Froelich syndrome; adiposogenital syndrom..
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Babinski-Froelich syndrome; adiposogenital syndrome; Froehlich's syndrome; Froelich's syndrome; Froehlich syndrome
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A hypothalamic disease that is characterized by en.. [+]A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.
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thymus basaloid carcinoma
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Basaloid carcinoma of the Thymus
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n_a
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esophageal basaloid squamous cell carcinoma
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Basaloid squamous carcinoma of esophagus
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n_a
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ankylosing spondylitis
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Bekhterev syndrome; Bekhterev's disease; Marie-Str..
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Bekhterev's disease; Bekhterev syndrome; Marie-Strumpell disease
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A bone inflammation disease that results_in inflam.. [+]A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
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anus basaloid carcinoma
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basaloid carcinoma of the anus; anal Basaloid carc..
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basaloid carcinoma of the anus; anal Basaloid carcinoma
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n_a
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Nijmegen breakage syndrome
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Berlin breakage syndrome; Microcephaly, normal int..
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Berlin breakage syndrome; Microcephaly, normal intelligence and immunodeficiency (disorder); Seemanova syndrome; immunodeficiency-microcephaly-chromosomal instability syndrome; Microcephaly, normal intelligence and immunodeficiency; microcephaly-immunodeficiency-lymphoreticuloma syndrome; NBS; Seemanova syndrome II; ataxia-telangiectasia variant; Seemanova syndrome type 2
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A syndrome characterized by chromosomal instabilit.. [+]A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
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1 articles
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childhood multilocular cystic kidney neoplasm
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benign Multilocular cystic renal tumor; pediatric ..
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benign Multilocular cystic renal tumor; pediatric Multilocular cystic renal tumor
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A childhood renal Wilms cancer that occurs in chil.. [+]A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN).
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mediastinal psammomatous neurilemmoma
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benign mediastinal psammomatous neurilemmoma; beni..
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benign mediastinal psammomatous neurilemmoma; benign Psammomatous Schwannoma of mediastinum
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A mediastinal neurilemmoma characterized by the pr.. [+]A mediastinal neurilemmoma characterized by the presence of psammoma bodies.
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thyroid Hurthle cell adenoma
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benign oncocytoma of the thyroid
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n_a
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actinomycosis
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boil; actinomycetoma; Actinomycotic madura foot (d..
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boil; actinomycetoma; Actinomycotic madura foot (disorder); Actinomycotic mycetoma of foot; Madura foot due to Actinomadura (disorder); Actinomycotic madura foot; Madura foot due to Actinomadura; actinomycotic infection; Actinomycotic mycetema
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A commensal bacterial infectious disease that resu.. [+]A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.
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decubitus ulcer
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bedsore; Decubitus (pressure) ulcer; Decubitus ulc..
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bedsore; Decubitus (pressure) ulcer; Decubitus ulcer; Decubitus ulcer any site; Decubitus ulcer, lower back; Decubitus ulcer, other site; Decubitus ulcer, upper back; Decubitus ulcer, elbow; pressure sores; pressure ulcer
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A chronic ulcer of skin where the ulcer is an ulce.. [+]A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
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penis carcinoma in situ
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Bowen's disease of penis; carcinoma in situ of pen..
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Bowen's disease of penis; carcinoma in situ of penis; Penile intraepithelial neoplasia grade III; Queyrat's erythroplasia; grade III squamous Intraepithelial Lesion of penis
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An in situ carcinoma that is located_in the penis.
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maple syrup urine disease
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branched chain ketoaciduria; dihydrolipoamide dehy..
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branched chain ketoaciduria; dihydrolipoamide dehydrogenase deficiency; Ketoacidaemia
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An organic acidemia that is caused by a deficiency.. [+]An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
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