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Disease	Synonyms	Description	Articles	Phenotypes
hyperlipoproteinemia type V	Fredrickson type V lipaemia; familial type 5 hyper.. [+] Fredrickson type V lipaemia; familial type 5 hyperlipoproteinemia; familial type 5 hyperlipoproteinemia (disorder); familial hyperlipoproteinemia type V [-]	n_a
hyperlipoproteinemia type IV	Fredrickson type IV lipidaemia; Fredrickson type I.. [+] Fredrickson type IV lipidaemia; Fredrickson type IV hyperlipoproteinemia; Fredrickson type IV Lipidemia; Fredrickson type IV hyperlipoproteinemia (disorder); familial hypertriglyceridemia; Endogenous hyperlipidaemia; VLDL hyperlipoproteinemia [-]	n_a
nephrotic syndrome	finnish congenital nephrosis	A nephrosis characterized by marked increase in gl..[+] A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. [-]	4 articles
transvestism	Fetishistic transvestism; Fetishistic transvestism.. [+] Fetishistic transvestism; Fetishistic transvestism (disorder); cross dresser; Transvestic fetishism; Dual-role transvestism [-]	n_a
abetalipoproteinemia	familial hypobetalipoproteinemia; microsomal trigl.. [+] familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease [-]	A hypolipoproteinemia that is characterized by an ..[+] A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. [-]	1 articles
Tangier disease	familial high density lipoprotein deficiency; fami.. [+] familial high density lipoprotein deficiency; familial hypoalphalipoproteinemia; familial alpha-lipoprotein deficiency [-]	A hypolipoproteinemia that is characterized by mar..[+] A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. [-]
breast fibroadenoma	Fibroadenoma; Fibroadenoma of breast; Fibroadenoma.. [+] Fibroadenoma of breast; Fibroadenoma; Fibroadenoma of breast (disorder); fibroadenoma; Complex Fibroadenoma of breast; Juvenile fibroadenoma (morphologic abnormality); juvenile fibroadenoma of breast; cellular Fibroadenoma; Juvenile fibroadenoma [-]	A breast benign neoplasm comprised of fibrous and ..[+] A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. [-]
McCune Albright syndrome	fibrous dysplasia of bone; fibrous dysplasia of bo.. [+] fibrous dysplasia of bone; fibrous dysplasia of bone (disorder); fibrous Dysplasia of bone; osteitis fibrosa disseminata; polyostotic fibrous dysplasia [-]	A syndrome that is characterized by polyostotic fi..[+] A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. [-]
malignant fibrous histiocytoma	Fibroxanthosarcoma (morphologic abnormality); Fibr.. [+] Fibroxanthosarcoma (morphologic abnormality); Fibroxanthosarcoma; fibrous histiocytoma, malignant (morphologic abnormality); MFH [-]	n_a
Coffin-Siris syndrome	Fifth Digit Syndrome; Short Stature-Onychodysplasi.. [+] Fifth Digit Syndrome; Short Stature-Onychodysplasia.; Dwarfism-Onychodysplasia [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. [-]	2 articles	6 matches
Williams-Beuren syndrome	Fanconi Schlesinger syndrome; WBS	A syndrome that is characterized by mild to modera..[+] A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. [-]	1 articles
vulvar angiokeratoma	Fordyce angiokeratoma of vulva	A vulvar benign neoplasm that is characterized by ..[+] A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. [-]
essential thrombocythemia	familial thrombocytosis; hereditary thrombocythemi.. [+] familial thrombocytosis; hereditary thrombocythemia; primary Thrombocytosis; hemorrhagic thrombocythemia; Essential thrombocythaemia [-]	A myeloproliferative neoplasm that is characterize..[+] A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. [-]
prothrombin deficiency	Factor II deficiency; hypoprothrombinemia; Congeni.. [+] Factor II deficiency; hypoprothrombinemia; Congenital factor II deficiency; Hereditary factor II deficiency disease [-]	A thrombophilia that is characterized by bleeding ..[+] A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. [-]
congenital afibrinogenemia	Fibrinogen deficiency; Factor I deficiency	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). [-]
leptospirosis	Fort Bragg fever; Rat Catcher's Yellows; spirochet.. [+] Fort Bragg fever; Rat Catcher's Yellows; spirochetal jaundice; Leptospirosis icterohaemorrhagica; nanukayami fever; Weil's disease [-]	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. [-]
hereditary spastic paraplegia	French settlement disease; familial spastic parapl.. [+] French settlement disease; familial spastic paraplegia; hereditary spastic paraparesis; Strumpell-Lorrain disease [-]	A paraplegia that is characterized by progressive ..[+] A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. [-]	1 articles
macular corneal dystrophy	Fehr corneal dystrophy; MACULAR DYSTROPHY, CORNEAL.. [+] Fehr corneal dystrophy; MACULAR DYSTROPHY, CORNEAL, 1 [-]	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. [-]
benign fibrous mesothelioma	fibrous mesothelioma, benign; fibrous mesothelioma.. [+] fibrous mesothelioma, benign; fibrous mesothelioma, benign (morphologic abnormality); localized benign fibrous Mesothelioma [-]	n_a
Goldenhar syndrome	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 [-]	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. [-]	1 articles
Treacher Collins syndrome	Franceschetti syndrome; (Mandibulofacial dysostosi.. [+] Franceschetti syndrome; (Mandibulofacial dysostosis) or (Franceschetti syndrome); mandibulofacial dysostosis; Mandibulofacial dysostosis [-]	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. [-]	7 articles
IgA glomerulonephritis	Focal Glomerulonephritis; Berger's IgA or IgG neph.. [+] Focal Glomerulonephritis; Berger's IgA or IgG nephropathy; IGA glomerulonephritis; IgA nephropathy; segmental glomerulonephritis; primary IgA nephropathy [-]	A glomerulonephritis characterized by build up of ..[+] A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. [-]
anus disease	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 [-]	A rectal disease located_in the anus.
hyperlipoproteinemia type III	familial type 3 hyperlipoproteinemia; familial hyp.. [+] familial type 3 hyperlipoproteinemia; familial hypercholesterolaemia with hyperlipaemia; familial type 3 hyperlipoproteinemia (disorder); carbohydrate induced hyperlipemia; Remnant hyperlipidemia [-]	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. [-]
lipid metabolism disorder	fatty acid metabolism disorder; dyslipidemia	An inherited metabolic disorder that involves the ..[+] An inherited metabolic disorder that involves the creation and degradation of lipids. [-]	4 articles
proliferative type fibrocystic change of breast	Fibrocystic change, proliferative type with atypia.. [+] 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 [-]	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. [-]
partial motor epilepsy	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 [-]	n_a
Kallmann syndrome	familial hypogonadism with anosmia; Hypogonadism w.. [+] familial hypogonadism with anosmia; Hypogonadism with anosmia (disorder); Kallman syndrome; Kallman's syndrome; Hypogonadism with anosmia [-]	A hypogonadotropic hypogonadism with a defective s..[+] A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). [-]	2 articles
congenital myasthenic syndrome	familial limb-girdle myasthenia	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). [-]	5 articles
pulmonary fibrosis	Fibrosis of lung	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. [-]	1 articles
thyroid gland follicular carcinoma	follicular thyroid carcinoma; Follicular carcinoma.. [+] 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 [-]	A differentiated thyroid gland carcinoma that has_..[+] A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells. [-]
trabecular follicular adenocarcinoma	Follicular adenocarcinoma, trabecular; Follicular .. [+] Follicular adenocarcinoma, trabecular; Follicular adenocarcinoma, trabecular (morphologic abnormality); Trabecular Follicular carcinoma [-]	n_a
tinea favosa	favus	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. [-]
cutaneous fibrous histiocytoma	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 [-]	n_a
Hallermann-Streiff syndrome	Francois dyscephalic syndrome; Hallerman - Streiff.. [+] Francois dyscephalic syndrome; Hallerman - Streiff syndrome; Hallermann's syndrome [-]	A syndrome that affects growth, cranial developmen..[+] A syndrome that affects growth, cranial development, hair growth and dental development. [-]
androgen insensitivity syndrome	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 [-]	A disorder of sexual development that is character..[+] A disorder of sexual development 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. [-]
oxyphilic adenoma	Follicular adenoma, oxyphilic cell; Oncocytoma	n_a
prolactinoma	familial prolactinoma; PITUITARY ADENOMA, PROLACTI.. [+] familial prolactinoma; PITUITARY ADENOMA, PROLACTIN-SECRETING; Prolactinoma of Pituitary gland [-]	n_a
Paget's disease of bone	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 [-]	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. [-]
bladder flat intraepithelial lesion	Flat Intraepithelial Lesion of the urinary bladder.. [+] Flat Intraepithelial Lesion of the urinary bladder [-]	n_a
kidney fibrosarcoma	Fibrosarcoma of the kidney	n_a
breast fibrosarcoma	Fibrosarcoma of the breast	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. [-]
heart fibrosarcoma	Fibrosarcoma of the Heart; cardiac fibrosarcoma	n_a
reactive arthritis	Fiessinger Leroy Reiter syndrome; Post-bacterial a.. [+] Fiessinger Leroy Reiter syndrome; Post-bacterial arthropathy; postdysenteric arthropathy; Reactive arthritis; Reiter disease; Reiter's disease [-]	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. [-]
central nervous system fibrosarcoma	Fibrosarcoma of the CNS	n_a
acne	frontalis acne; acne vulgaris; Acne varioliformis; .. [+] frontalis acne; acne vulgaris; Acne varioliformis [-]	A sebaceous gland disease characterized by areas o..[+] A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. [-]
diffuse idiopathic skeletal hyperostosis	Forestier disease; Ankylosing vertebral hyperostos.. [+] Forestier disease; Ankylosing vertebral hyperostosis; DISH; Disseminated idiopathic skeletal hyperostosis [-]	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. [-]
X-linked Aarskog syndrome	faciogenital dysplasia; Aarskog-Scott syndrome; Gr.. [+] faciogenital dysplasia; Aarskog-Scott syndrome; Greig's syndrome [-]	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. [-]
skin tag	Fibroepithelial polyp of skin; Fibroepithelial pol.. [+] Fibroepithelial polyp of skin; Fibroepithelial polyp; cutaneous tag; soft fibroma [-]	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. [-]
small bowel fibrosarcoma	Fibrosarcoma, small Intestine	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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