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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
asthma
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bronchial hyperreactivity; chronic obstructive ast..
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bronchial hyperreactivity; chronic obstructive asthma; chronic obstructive asthma with acute exacerbation; chronic obstructive asthma with status asthmaticus; Exercise induced asthma; exercise-induced asthma
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A bronchial disease that is characterized by chron.. [+]
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
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4 articles
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prostatic adenoma
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benign adenoma of prostate (disorder); benign aden..
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benign adenoma of prostate (disorder); benign adenoma of prostate; adenoma of prostate; prostate adenoma; adenoma - prostate
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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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IgA glomerulonephritis
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Berger's IgA or IgG nephropathy; Focal Glomerulone..
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Berger's IgA or IgG nephropathy; Focal Glomerulonephritis; IGA glomerulonephritis; IgA nephropathy; segmental glomerulonephritis; primary IgA nephropathy
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A glomerulonephritis characterized by build up of .. [+]
A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
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familial Mediterranean fever
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benign paroxysmal peritonitis; FMF
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An autoimmune disease characterized by recurrent e.. [+]
An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
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scleredema adultorum
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Buschke's scleredema
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A skin disease that is characterized by induration.. [+]
A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
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hypomelanosis of Ito
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Bloch-Siemans syndrome; Hypomelanosis of Ito; Ito'..
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Bloch-Siemans syndrome; Hypomelanosis of Ito; Ito's nevus; nevus of Ito; Incontinentia pigmenti syndrome; incontinentia pigmenti achromians; Incontinentia pigmenti achromians syndrome
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A skin disease that is characterized by distinctiv.. [+]
A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
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chronic granulomatous disease
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Bridges-Good syndrome; Quie syndrome; Congenital d..
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Bridges-Good syndrome; Quie syndrome; Congenital dysphagocytosis; CGD
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A phagocyte bactericidal dysfunction characterized.. [+]
A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
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atopic dermatitis
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Besnier's prurigo (disorder); Besnier's prurigo; A..
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Besnier's prurigo; Besnier's prurigo (disorder); Allergic (intrinsic) eczema (disorder); allergic dermatitis; Atopic dermatitis (disorder); Atopic dermatitis NOS (disorder); atopic eczema; Atopic neurodermatitis (disorder); Atopic dermatitis; Atopic neurodermatitis
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An allergic contact dermatitis that is a chronical.. [+]
An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
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1 articles
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lipoma
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benign tumor of Adipose tissue; benign lipomatous ..
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benign tumor of Adipose tissue; benign lipomatous tumor; LIPOMATOSIS, FAMILIAL MULTIPLE; Lipomatous tumor; multiple lipomatosis; tumor of adipose tissue (disorder); Lipomatous neoplasm (morphologic abnormality); tumor of adipose tissue; Lipomatous neoplasm
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A cell type benign neoplasm that is composed of li.. [+]
A cell type benign neoplasm that is composed of lipocytes.
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GM1 gangliosidosis
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beta-Galactosidase deficiency; Beta-galactosidase ..
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beta-Galactosidase deficiency; Beta-galactosidase deficiency; deficiency of beta-galactosidase (disorder); GM>1< gangliosidosis (disorder); Landing syndrome; GM1 gangliosidosis (disorder); deficiency of beta-galactosidase; gangliosidosis GM1
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A gangliosidosis that is characterized by progress.. [+]
A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
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osteosarcoma
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bone tissue neoplasm; osteoid sarcoma; Skeletal sa..
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bone tissue neoplasm; osteoid sarcoma; Skeletal sarcoma; Osteogenic sarcoma
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A bone sarcoma that is located_in bone that has_ma.. [+]
A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
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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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