| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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spinal cancer
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Intraspinal tumor; malignant tumor of the Spinal C..
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Intraspinal tumor; malignant tumor of the Spinal Cord; spinal cord neoplasm; tumor of the Spinal Cord; spinal cord cancer; spinal neoplasm
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A central nervous system cancer that is located_in.. [+]A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer).
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spinal canal intradural extramedullary neoplasm
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Intradural Extramedullary Spinal tumors
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n_a
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uterus intravascular leiomyomatosis
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Intravascular leiomyomatosis of Uterus
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n_a
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central nervous system immature teratoma
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Immature teratoma of the CNS
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n_a
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renal pelvis inverted papilloma
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Inverted papilloma of the kidney Pelvis
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n_a
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malignant inflammatory fibrous histiocytoma
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inflammatory MFH; Xanthosarcoma
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n_a
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chronic lymphocytic leukemia/small lymphocytic lymphoma
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ICDO:9823/3; chronic lymphocytic leukemia/small ly..
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ICDO:9823/3; chronic lymphocytic leukemia/small lymphocytic lymphoma; chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality); B-cell lymphocytic leukemia/small lymphocytic lymphoma; CLL/SLL
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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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ethmoid sinus inverted papilloma
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Inverted papilloma of the ethmoid sinus
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n_a
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breast tubular carcinoma
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invasive tubular breast carcinoma; Invasive tubula..
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invasive tubular breast carcinoma; Invasive tubular carcinoma of breast; tubular carcinoma of breast
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A breast adenocarcinoma that is characterized as a.. [+]A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma.
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X-linked hyper IgM syndrome
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immunodeficiency with hyper-IgM type 1; hyperimmun..
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immunodeficiency with hyper-IgM type 1; hyperimmunoglobulin M syndrome; hyperimmunoglobulin M syndrome (disorder); HIGM1; hyper-IgM immunodeficiency syndrome type 1; hyper-IgM syndrome 1; hyper-IgM syndrome 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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breast intraductal proliferative lesion
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Intraductal Proliferative Lesion
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An intraductal breast benign neoplasm that is char.. [+]An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation.
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urethra inverted papilloma
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Inverted papilloma of the urethra
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n_a
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anisakiasis
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Infection by Anisakis larva
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.
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Borst-Jadassohn intraepidermal carcinoma
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Intraepidermal Epithelioma of Jadassohn; Bowen's d..
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Intraepidermal Epithelioma of Jadassohn; Bowen's disease, clonal (disorder); Bowen's disease, clonal
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n_a
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radiation cystitis
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Irradiation cystitis
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n_a
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Nijmegen breakage syndrome
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immunodeficiency-microcephaly-chromosomal instabil..
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immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Microcephaly, normal intelligence and immunodeficiency (disorder); Seemanova 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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breast intraductal papillomatosis
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Intraductal papillomatosis of the breast; breast p..
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Intraductal papillomatosis of the breast; breast papillomatosis
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A benign breast neoplasm characterized by the pres.. [+]A benign breast neoplasm characterized by the presence of multiple intraductal papillomas.
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pancreatic intraductal papillary-colloid carcinoma
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Intraductal Papillary-mucinous carcinoma of pancre..
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Intraductal Papillary-mucinous carcinoma of pancreas
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n_a
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breast scirrhous carcinoma
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Infiltrating carcinoma of breast with Fibrotic Str..
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Infiltrating carcinoma of breast with Fibrotic Stroma; Scirrhous carcinoma of breast (disorder); scirrhous carcinoma of breast; Scirrhous carcinoma of breast
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A breast carcinoma that is characterized by the pr.. [+]A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue.
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conventional osteosarcoma
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intracortical osteogenic sarcoma; Intracortical os..
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intracortical osteogenic sarcoma; Intracortical osteosarcoma; Intracortical osteosarcoma (morphologic abnormality); conventional central osteosarcoma; Medullary Osteosarcoma
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A bone osteosarcoma that is characterized by the p.. [+]A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation.
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sphenoid sinus inverted papilloma
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Inverted papilloma of the Sphenoid sinus
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n_a
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maxillary sinus inverted papilloma
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Inverted papilloma of the maxillary sinus
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n_a
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frontal sinus inverted papilloma
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Inverted papilloma of the Frontal sinus
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n_a
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scabies
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Infestation by Sarcoptes scabiei var hominis; Infe..
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Infestation by Sarcoptes scabiei var hominis; Infestation by Sarcoptes scabiei; Sarcoptic itch
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A mite infestation that is a contagious ectoparasi.. [+]A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.
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congenital fibrosarcoma
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Infantile fibrosarcoma; Infantile fibrosarcoma (mo..
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Infantile fibrosarcoma; Infantile fibrosarcoma (morphologic abnormality); Infantile fibrosarcoma (disorder)
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n_a
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Whipple disease
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intestinal lipodystrophy; Whipple's disease; Whipp..
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intestinal lipodystrophy; Whipple's disease; Whipple's disease (disorder)
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n_a
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chronic ulcer of skin
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Indolent ulcer; Indolent ulcer (morphologic abnorm..
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Indolent ulcer; Indolent ulcer (morphologic abnormality); Callous ulcer (morphologic abnormality); Callous ulcer
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n_a
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Peyronie's disease
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Induratio penis plastica; Peyronie disease; Peyron..
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Induratio penis plastica; Peyronie disease; Peyronie's Fibromatosis
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n_a
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Kaposi's sarcoma
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intestinal Kaposi's sarcoma; African lymphadenopat..
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intestinal Kaposi's sarcoma; African lymphadenopathic Kaposi's sarcoma; anal Kaposi's sarcoma; central nervous system Kaposi's sarcoma; Conjunctival Kaposi's sarcoma; Corneal Kaposi's sarcoma; Cutaneous Kaposi's sarcoma; cutaneous Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; Kaposi sarcoma; Kaposi's sarcoma of conjunctiva (disorder); Kaposi's sarcoma of cornea (disorder); Kaposi's sarcoma of gastrointestinal sites; Kaposi's sarcoma of Heart; Kaposi's sarcoma of lung (disorder); Kaposi's sarcoma of lymph nodes; Kaposi's sarcoma of palate (disorder); Kaposi's sarcoma of penis; Kaposi's sarcoma of skin (disorder); Kaposi's sarcoma of soft tissue (disorder); Kaposi's sarcoma of soft tissues (disorder); Kaposi's sarcoma of the gallbladder; Kaposi's sarcoma, lung; Kaposi's sarcoma-associated herpesvirus (KSHV); lymphadenopathic Kaposi's sarcoma; palate Kaposi's sarcoma; prostate Kaposi's sarcoma; soft tissue Kaposi's sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of esophagus; Kaposi's sarcoma of lymph nodes (disorder); Kaposi's sarcoma of the CNS; Kaposi's sarcoma, skin; pulmonary Kaposi's sarcoma; cardiac Kaposi's sarcoma; conjunctival Kaposi's sarcoma; corneal Kaposi's sarcoma; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of palate; Kaposi's sarcoma of skin; Kaposi's sarcoma of soft tissue; Kaposi's sarcoma of the prostate; lymph node Kaposi's sarcoma; Palate Kaposi's sarcoma; penis Kaposi's sarcoma; gastric Kaposi's sarcoma; Kaposi's sarcoma of lung; Kaposi's sarcoma of soft tissues
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A connective tissue cancer that derives_from lymph.. [+]A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8).
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pulmonary subvalvular stenosis
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Infundibular pulmonic stenosis, congenital; Infund..
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Infundibular pulmonic stenosis, congenital; Infundibular pulmonic stenosis; Infundibular pulmonic stenosis (disorder); pulmonary infundibular stenosis (disorder); Subvalvular pulmonic stenosis; Congenital Infundibular Stenosis; pulmonary infundibular stenosis
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n_a
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tinea nigra
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Infection by Cladosporium werneckii; Keratomycosis..
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Infection by Cladosporium werneckii; Keratomycosis nigricans; Tinea palmaris nigra; microsporosis nigra
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A superficial mycosis that is a superficial fungal.. [+]A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.
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autoimmune thrombocytopenic purpura
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Immune thrombocytopenic purpura; Ideopath thromboc..
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Immune thrombocytopenic purpura; Ideopath thrombocytopenic pur; Immune thrombocytopenic purpura (disorder); idiopathic thrombocytopenic purpura; Idiopathic purpura; Autoimmune thrombocytopenic purpura; werlhof's disease; primary thrombocytopenic purpura
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A primary thrombocytopenia that involves relativel.. [+]A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
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seborrheic infantile dermatitis
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Infantile seborrheic dermatitis; Infantile seborrh..
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Infantile seborrheic dermatitis; Infantile seborrhoeic dermatitis; Infantile seborrheic dermatitis NOS (disorder); Complement 5 dysfunction; Generalized seborrheic dermatitis of infants; seborrhea capitis; Seborrhea sicca; Seborrhoeic dermatitis of scalp; cradle cap; Seborrhea capitis; Seborrhoea capitis; Seborrhoeic eczema of scalp; Pityriasis capitis
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A seborrheic dermatitis that involves fungal infec.. [+]A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp.
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subacute sclerosing panencephalitis
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Immunosuppressive measles encephalitis; Subacute S..
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Immunosuppressive measles encephalitis; Subacute Sclerosing Panencephalitis; Subacute sclerosing panencephalitis (disorder); Subacute sclerosing panencephalitis (disorder) [Ambiguous]; Van Bogaert's sclerosing leukoencephalitis; Van Bogaert's sclerosing leukoencephalitis (disorder); Subacute sclerosing panencephalitis; subacute sclerosing leukoencephalopathy
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A viral infectious disease that results_in infecti.. [+]A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant.
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pityriasis versicolor
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Infection by Pityrosporum furfur; Pityriasis versi..
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Infection by Pityrosporum furfur; Pityriasis versicolor (disorder); Pityriasis versicolor
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A superficial mycosis that is a chronic, superfici.. [+]A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales.
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visceral leishmaniasis
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Infection by visceral leishmaniasis; Kala-Azar
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A leishmaniasis that is the most severe form of th.. [+]A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.
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amino acid metabolic disorder
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inborn errors of amino acid metabolism
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An inherited metabolic disorder that is characteri.. [+]An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
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5 articles
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type 2 diabetes mellitus
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insulin resistance; type II diabetes mellitus; non..
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insulin resistance; type II diabetes mellitus; non-insulin-dependent diabetes mellitus; NIDDM; type 2 diabetes
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A diabetes mellitus that is characterized by high .. [+]A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
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12 articles
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lipid storage disease
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inborn lipid storage disorder; Lipoid storage dise..
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inborn lipid storage disorder; Lipoid storage diseas; Lipoidosis; lipoidosis
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A lysosomal storage disease that involves the accu.. [+]A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
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4 articles
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nail-patella syndrome
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iliac horn syndrome; Fong disease; hereditary onyc..
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iliac horn syndrome; Fong disease; hereditary onychoostedysplasia; Turner-Kiser syndrome; nail patella syndrome
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A syndrome characterized by nail dysplasia and abs.. [+]A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.
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primary ciliary dyskinesia
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immotile ciliary syndrome; ciliary motility disord..
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immotile ciliary syndrome; ciliary motility disorder
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A ciliopathy that is characterized by impaired fun.. [+]A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
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18 articles
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12 matches
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choanal atresia
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Imperforate nares; posterior choanal atresia; Atre..
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Imperforate nares; posterior choanal atresia; Atresia of nares
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n_a
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1 articles
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10 matches
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babesiosis
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Infection by babesia; piroplasmosis; Babesiasis
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A parasitic protozoa infectious disease that has_s.. [+]A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease.
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type 1 diabetes mellitus
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IDDM; insulin-dependent diabetes mellitus; type I ..
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insulin-dependent diabetes mellitus; IDDM; type I diabetes mellitus
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A diabetes mellitus that is characterized by destr.. [+]A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.
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1 articles
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myositis fibrosa
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Interstitial myositis
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n_a
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toxocariasis
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Infection by Toxascaris; Infection by Toxascaris (..
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Infection by Toxascaris; Infection by Toxascaris (disorder); Toxocara infection; visceral larva migrans
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.
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esotropia
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Internal Strabismus; crossed eyes; Convergence in ..
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Internal Strabismus; crossed eyes; Convergence in manifest squint
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A strabismus that is characterized the eye which t.. [+]A strabismus that is characterized the eye which turns inward toward the nose.
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cysticercosis
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intestinal taenia solium infection; Pork tapeworm ..
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intestinal taenia solium infection; Pork tapeworm infection; Tapeworm infection: [intestinal taenia solium] or [pork]; tenia solium infectious disease; Tapeworm infection: pork; neurocysticercosis; Tapeworm infection: intestinal taenia solum; Tapeworm infection intestinal taenia solum; Tapeworm infection pork
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A taeniasis that results from ingestion of eggs or.. [+]A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
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sparganosis
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Infection by Sparganum; Sparganosis [larval diphyl..
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Infection by Sparganum; Sparganosis [larval diphyllobothriasis]; Sparganosis
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
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benign ileal neoplasm
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Ileal tumor
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A small intestine benign neoplasm that affects the.. [+]A small intestine benign neoplasm that affects the wall of the ileum.
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