| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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congenital afibrinogenemia
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Fibrinogen deficiency; Factor I deficiency
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A blood coagulation disease that is characterized .. [+]A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
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leptospirosis
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Fort Bragg fever; Rat Catcher's Yellows; spirochet..
[+]
Fort Bragg fever; Rat Catcher's Yellows; spirochetal jaundice; Leptospirosis icterohaemorrhagica; nanukayami fever; Weil's disease
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A primary bacterial infectious disease that involv.. [+]A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
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hereditary spastic paraplegia
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French settlement disease; familial spastic parapl..
[+]
French settlement disease; familial spastic paraplegia; hereditary spastic paraparesis; Strumpell-Lorrain disease
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A paraplegia that is characterized by progressive .. [+]A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
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1 articles
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macular corneal dystrophy
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Fehr corneal dystrophy; MACULAR DYSTROPHY, CORNEAL..
[+]
Fehr corneal dystrophy; MACULAR DYSTROPHY, CORNEAL, 1
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A corneal dystrophy that is characterized by corne.. [+]A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
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benign fibrous mesothelioma
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fibrous mesothelioma, benign; fibrous mesothelioma..
[+]
fibrous mesothelioma, benign; fibrous mesothelioma, benign (morphologic abnormality); localized benign fibrous Mesothelioma
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n_a
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Goldenhar syndrome
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First arch syndrome; Facio-auriculo-vertebral spec..
[+]
First arch syndrome; Facio-auriculo-vertebral spectrum; First arch syndrome (disorder); First AND second branchial arch syndrome; Facio-auriculo-vertebral spectrum (disorder); HEMIFACIAL MICROSOMIA; Otomandibular dysostosis (disorder); OAV (oculoauriculovertebral) dysplasia; Otomandibular dysostosis
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A syndrome that is characterized by incomplete dev.. [+]A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
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1 articles
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Treacher Collins syndrome
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Franceschetti syndrome; (Mandibulofacial dysostosi..
[+]
Franceschetti syndrome; (Mandibulofacial dysostosis) or (Franceschetti syndrome); mandibulofacial dysostosis; Mandibulofacial dysostosis
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A syndrome that is characterized by bilateral and .. [+]A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
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7 articles
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IgA glomerulonephritis
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Focal Glomerulonephritis; Berger's IgA or IgG neph..
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Focal Glomerulonephritis; Berger's IgA or IgG nephropathy; 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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anus disease
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fissure in ano; anal disease; anal fissure; anal u..
[+]
fissure in ano; anal disease; anal fissure; anal ulcer; Solitary anal ulcer; Ulcer of anus; anal fissure and fistula; Nontraumatic tear of anus
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A rectal disease located_in the anus.
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hyperlipoproteinemia type III
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familial type 3 hyperlipoproteinemia; familial hyp..
[+]
familial type 3 hyperlipoproteinemia; familial hypercholesterolaemia with hyperlipaemia; familial type 3 hyperlipoproteinemia (disorder); carbohydrate induced hyperlipemia; Remnant hyperlipidemia
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A familial hyperlipidemia that has_material_basis_.. [+]A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
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lipid metabolism disorder
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fatty acid metabolism disorder; dyslipidemia
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An inherited metabolic disorder that involves the .. [+]An inherited metabolic disorder that involves the creation and degradation of lipids.
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4 articles
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proliferative type fibrocystic change of breast
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Fibrocystic change, proliferative type with atypia..
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Fibrocystic change, proliferative type with atypia; Fibrocystic disease, Proliferative type with Atypia; Fibrocystic change, proliferative type with atypia (morphologic abnormality); Proliferating Lesion of breast without Atypia; Proliferating Lesion of the breast without Atypia; Proliferative Fibrocystic Change
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A breast fibrocystic disease that is characterized.. [+]A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.
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partial motor epilepsy
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Focal motor seizure, NOS; Focal motor seizure; Foc..
[+]
Focal motor seizure; Focal motor seizure, NOS; Focal motor seizure (disorder); epilepsy, focal motor NOS; epilepsy, focal motor
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n_a
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Kallmann syndrome
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familial hypogonadism with anosmia; Hypogonadism w..
[+]
familial hypogonadism with anosmia; Hypogonadism with anosmia (disorder); Kallman syndrome; Kallman's syndrome; Hypogonadism with anosmia
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A hypogonadotropic hypogonadism with a defective s.. [+]A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
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2 articles
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congenital myasthenic syndrome
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familial limb-girdle myasthenia
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A neuromuscular junction disease that is character.. [+]A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
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5 articles
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pulmonary fibrosis
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Fibrosis of lung
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An interstitial lung disease that is characterized.. [+]An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
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1 articles
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thyroid gland follicular carcinoma
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follicular thyroid carcinoma; Follicular carcinoma..
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follicular thyroid carcinoma; Follicular carcinoma; Follicular adenocarcinoma, well differentiated; Follicular adenocarcinoma; Follicular thyroid carcinoma (disorder); Follicular adenocarcinoma (morphologic abnormality); Follicular carcinoma of the Thyroid gland; Follicular adenocarcinoma, well differentiated (morphologic abnormality); Thyroid adenocarcinoma
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A differentiated thyroid gland carcinoma that has_.. [+]A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.
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trabecular follicular adenocarcinoma
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Follicular adenocarcinoma, trabecular; Follicular ..
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Follicular adenocarcinoma, trabecular; Follicular adenocarcinoma, trabecular (morphologic abnormality); Trabecular Follicular carcinoma
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n_a
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tinea favosa
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favus
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A tinea capitis that results_in fungal infection l.. [+]A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
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cutaneous fibrous histiocytoma
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fibrous xanthoma of skin; Fibrohistiocytic tumor; ..
[+]
Fibrohistiocytic tumor; fibrous xanthoma of skin; fibrous histiocytoma of skin; Fibrohistiocytic tumor (disorder); fibrous xanthoma of skin (disorder); fibrous histiocytoma of skin (disorder); fibrohistiocytic tumor; Fibrohistiocytic neoplasm; benign Cutaneous fibrous Histiocytoma; dermatofibroma; Dermatofibroma, no ICD-O subtype (morphologic abnormality); Pleomorphic fibroma; Sclerosing angioma (morphologic abnormality); Dermatofibroma NOS; Sclerosing angioma of skin; Sclerosing angioma; Dermatofibroma
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n_a
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Hallermann-Streiff syndrome
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Francois dyscephalic syndrome; Hallerman - Streiff..
[+]
Francois dyscephalic syndrome; Hallerman - Streiff syndrome; Hallermann's syndrome
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A syndrome that affects growth, cranial developmen.. [+]A syndrome that affects growth, cranial development, hair growth and dental development.
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androgen insensitivity syndrome
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Feminisation - testicular; Androgen-Insensitivity ..
[+]
Feminisation - testicular; Androgen-Insensitivity Syndrome; Goldberg - Maxwell syndrome; Goldberg-Maxwell syndrome; testicular feminization; Androgen resistance syndrome (disorder); testicular feminization (disorder); Androgen resistance syndrome; testicular Feminization syndrome
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A disorder of sexual developement that is characte.. [+]A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
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oxyphilic adenoma
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Follicular adenoma, oxyphilic cell; Oncocytoma
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n_a
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prolactinoma
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familial prolactinoma; PITUITARY ADENOMA, PROLACTI..
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familial prolactinoma; PITUITARY ADENOMA, PROLACTIN-SECRETING; Prolactinoma of Pituitary gland
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n_a
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Paget's disease of bone
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Familial Paget's disease of bone; osteitis deforma..
[+]
Familial Paget's disease of bone; osteitis deformans; Paget's bone disease; osseous Paget's disease; Paget disease of bone
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A bone formation disease that has_material_basis_i.. [+]A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
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bladder flat intraepithelial lesion
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Flat Intraepithelial Lesion of the urinary bladder..
[+]
Flat Intraepithelial Lesion of the urinary bladder
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n_a
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kidney fibrosarcoma
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Fibrosarcoma of the kidney
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n_a
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breast fibrosarcoma
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Fibrosarcoma of the breast
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A breast sarcoma that arises from fibrous connecti.. [+]A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
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heart fibrosarcoma
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Fibrosarcoma of the Heart; cardiac fibrosarcoma
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n_a
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reactive arthritis
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Fiessinger Leroy Reiter syndrome; Post-bacterial a..
[+]
Fiessinger Leroy Reiter syndrome; Post-bacterial arthropathy; postdysenteric arthropathy; Reactive arthritis; Reiter disease; Reiter's disease
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An arthritis that is an autoimmune disease which d.. [+]An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
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central nervous system fibrosarcoma
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Fibrosarcoma of the CNS
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n_a
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acne
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frontalis acne; acne vulgaris; Acne varioliformis; ..
[+]
frontalis acne; acne vulgaris; Acne varioliformis
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A sebaceous gland disease characterized by areas o.. [+]A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
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diffuse idiopathic skeletal hyperostosis
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Forestier disease; Ankylosing vertebral hyperostos..
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Forestier disease; Ankylosing vertebral hyperostosis; DISH; Disseminated idiopathic skeletal hyperostosis
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A calcinosis that is the calcification or a bony h.. [+]A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
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X-linked Aarskog syndrome
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faciogenital dysplasia; Aarskog-Scott syndrome; Gr..
[+]
faciogenital dysplasia; Aarskog-Scott syndrome; Greig's syndrome
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A syndromic X-linked intellectual disability affec.. [+]A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
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skin tag
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Fibroepithelial polyp of skin; Fibroepithelial pol..
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Fibroepithelial polyp of skin; Fibroepithelial polyp; cutaneous tag; soft fibroma
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A reactive cutaneous fibrous lesion that is charac.. [+]A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease.
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small bowel fibrosarcoma
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Fibrosarcoma, small Intestine
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A fibrosarcoma of soft tissue and small intestinal.. [+]A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel.
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pseudosarcomatous fibromatosis
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Fasciitis - nodular; nodular fasciitis; Pseudosarc..
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Fasciitis - nodular; nodular fasciitis; Pseudosarcomatous fibromatosis; Pseudosarcomatous fibromatosis (disorder); nodular fasciitis (disorder); Pseudosarcomatous Fasciitis
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n_a
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inhibited female orgasm
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female Orgasmic disorder
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n_a
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dendritic cell sarcoma
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follicular dendritic cell sarcoma; Dendritic cell ..
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follicular dendritic cell sarcoma; Dendritic cell sarcoma; Dendritic cell sarcoma, not otherwise specified (morphologic abnormality); Dendritic cell sarcoma, not otherwise specified
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A histiocytic and dendritic cell cancer that is ma.. [+]A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
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cerebral falx meningioma
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Falcine meningioma
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n_a
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intestinal volvulus
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familial intestinal malrotation; intestinal volvul..
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familial intestinal malrotation; intestinal volvulus; Twist of intestine, bowel, or colon; Volvulus; volvulus of midgut
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An intestinal obstruction characterized by abnorma.. [+]An intestinal obstruction characterized by abnormal rotation of the intestines.
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influenza
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flu; influenza with non-respiratory manifestation; ..
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flu; influenza with non-respiratory manifestation; Influenza with non-respiratory manifestation (disorder); Influenza with other manifestations (disorder); Influenza with other manifestations NOS (disorder); Influenza with other manifestations; Influenza with non-respiratory manifestation
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A viral infectious disease that results in infecti.. [+]A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.
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1 articles
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infectious mononucleosis
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Filatov's disease; Gammaherpesviral mononucleosis ..
[+]
Filatov's disease; Gammaherpesviral mononucleosis (disorder); glandular fever; Monocytic angina; Pfeiffer's disease (disorder); Pfeiffer's disease; mononucleosis; Gammaherpesviral mononucleosis
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A viral infectious disease that results in inflamm.. [+]A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
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erythema infectiosum
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Fifth disease; Erythema infectiosum (disorder); Er..
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Fifth disease; Erythema infectiosum (disorder); Erythema infectiosum
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n_a
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gastric mucosal hypertrophy
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familial giant hypertrophic gastritis; Giant rugal..
[+]
familial giant hypertrophic gastritis; Giant rugal hypertrophy of stomach; hypertrophic gastropathy (disorder); MENETRIER DISEASE; hypertrophic gastritis; hypertrophic gastropathy
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n_a
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lattice corneal dystrophy
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familial amyloid neuropathy, Finnish type
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n_a
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bladder carcinoma in situ
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Flat CIS of the urinary bladder; bladder Ca in sit..
[+]
Flat CIS of the urinary bladder; bladder Ca in situ; carcinoma in situ of bladder
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An in situ carcinoma that is located_in the bladde.. [+]An in situ carcinoma that is located_in the bladder.
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neurotic excoriation
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Factitious skin disease; Factitious skin disease (..
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Factitious skin disease; Factitious skin disease (disorder); Dermatitis factitia [artefacta]; Dermatitis ficta; Dermatitis factitia (disorder); Dermatitis artefacta; Dermatitis factitia
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n_a
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phenylketonuria
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Følling's disease; Folling's disease; maternal ph..
[+]
Folling's disease; Følling's disease; maternal phenylketonuria; phenylalaninemia; PKU
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An amino acid metabolic disorder that is character.. [+]An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
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steatotic liver disease
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Fatty change of liver; fatty liver disease; alcoho..
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fatty liver disease; Fatty change of liver; alcoholic fatty liver; Steatosis of liver (disorder); hepatic lipidosis; Steatosis of liver; cryptogenic steatotic liver disease; hepatic steatosis; SLD
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A lipid storage disease characterized by the accum.. [+]A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
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3 articles
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