| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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cerebellar angioblastoma
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Hemangioblastoma of Cerebellum
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n_a
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brain stem angioblastoma
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Hemangioblastoma of Brainstem
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A brain stem cancer that is characterized by slow .. [+]A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells.
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nervous system hibernoma
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Hibernoma of nervous system
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n_a
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bone epithelioid hemangioma
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hemangioma of bone; osseous epithelioid hemangioma..
[+]
hemangioma of bone; osseous epithelioid hemangioma; bone hemangioma; osseous hemangioma
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n_a
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X-linked hyper IgM syndrome
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hyper-IgM syndrome 1; hyper-IgM syndrome type 1; h..
[+]
hyper-IgM syndrome type 1; hyper-IgM syndrome 1; hyper-IgM immunodeficiency syndrome type 1; HIGM1; hyperimmunoglobulin M syndrome (disorder); hyperimmunoglobulin M syndrome; immunodeficiency with hyper-IgM 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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cerebral angioma
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hemangioma of Cerebrum
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A brain angioma that is characterized by vascular .. [+]A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen.
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tooth and nail syndrome
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Hypoplastic enamel-onycholysis-hypohidrosis syndro..
[+]
Hypoplastic enamel-onycholysis-hypohidrosis syndrome; Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder); Tooth and Nail syndrome; Witkop's syndrome
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A syndrome that affects the teeth, nails, hair, an.. [+]A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
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autoimmune thyroiditis
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Hashimoto's syndrome; Hashimoto's Disease; Hashimo..
[+]
Hashimoto's Disease; Hashimoto's syndrome; Hashimoto's thyroiditis; Hashimoto thyroiditis; Lymphocytic Thyroiditis; Chronic Lymphocytic Thyroiditis
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An autoimmune disease of endocrine system that inv.. [+]An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
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synovial angioma
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hemangioma of Synovium
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n_a
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osteoarthritis
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hypertrophic arthritis; degenerative arthritis; de..
[+]
hypertrophic arthritis; degenerative arthritis; degenerative joint disease; osteoarthrosis; Osteoarthrosis and allied disorder
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An arthritis that has_material_basis_in worn out c.. [+]An arthritis that has_material_basis_in worn out cartilage located_in joint.
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3 articles
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reticulosarcoma
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histiocytic lymphoma; large-cell Lymphomas
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n_a
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duodenitis
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Hemorrhagic duodenitis
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n_a
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genital herpes
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HERPES GENITALIA; Herpes Genitalis; Genital herpes..
[+]
Herpes Genitalis; HERPES GENITALIA; Genital herpes simplex (disorder); venereal herpes; Genital herpes simplex; Virus-Genital Herpes
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A herpes simplex that results_in infection located.. [+]A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.
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gastric mucosal hypertrophy
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hypertrophic gastritis; hypertrophic gastropathy; ..
[+]
hypertrophic gastropathy; hypertrophic gastritis; hypertrophic gastropathy (disorder); familial giant hypertrophic gastritis; Giant rugal hypertrophy of stomach; MENETRIER DISEASE
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n_a
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severe nonproliferative diabetic retinopathy
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High risk non proliferative diabetic retinopathy; ..
[+]
High risk non proliferative diabetic retinopathy; Severe NPDR
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n_a
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eczema herpeticum
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herpes simplex virus eyelid dermatitis; Herpes sim..
[+]
herpes simplex virus eyelid dermatitis; Herpes simplex eyelid dermatitis; Herpes simplex dermatitis of eyelid; Herpes simplex virus dermatitis; Herpes simplex eyelid dermatitis (disorder); Herpes simplex dermatitis of eyelid (disorder); herpes simplex dermatitis; Eczema herpeticum (disorder) [Ambiguous]; Eczema herpeticum (disorder); Eczema herpeticum
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A herpes simplex that results_in infection located.. [+]A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.
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achalasia
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hypertensive lower esophageal sphincter; achalasia..
[+]
hypertensive lower esophageal sphincter; achalasia of cardia; achalasia of esophagus; esophageal achalasia; Lack of reflex relaxation of lower oesophageal sphincter; cardiospasm
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An esophageal disease that is characterized by an .. [+]An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
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cerebral amyloid angiopathy
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Hereditary Cerebral Hemorrhage with Amyloidosis; H..
[+]
Hereditary Cerebral Hemorrhage with Amyloidosis; Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder); dutch hereditary cerebral amyloid angiopathy; Cerebral Hemorrhage, Hereditary, with Amyloidosis
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An amyloidosis where amyloid protein progressively.. [+]An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
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alkaptonuria
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Homogentisate 1,2-dioxygenase deficiency; alcapton..
[+]
Homogentisate 1,2-dioxygenase deficiency; alcaptonuria; deficiency of homogentisicase
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An amino acid metabolic disorder that involves phe.. [+]An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
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cleft lip
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hare lip; cleft lip, unilateral, complete; Labium ..
[+]
hare lip; cleft lip, unilateral, complete; Labium leporinum; complete unilateral cleft lip; cheiloschisis
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An orofacial cleft that is characterized by a cong.. [+]An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
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6 articles
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steatotic liver disease
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hepatic lipidosis; hepatic steatosis; alcoholic fa..
[+]
hepatic steatosis; hepatic lipidosis; alcoholic fatty liver; Fatty change of liver; Steatosis of liver (disorder); Steatosis of liver; cryptogenic steatotic liver disease; fatty liver disease; 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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nail-patella syndrome
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hereditary onychoostedysplasia; Fong disease; Turn..
[+]
hereditary onychoostedysplasia; Fong disease; Turner-Kiser syndrome; nail patella syndrome; iliac horn 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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dextrocardia
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Heart predominantly in right hemithorax
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n_a
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median arcuate ligament syndrome
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Harjola-Marable syndrome; Celiac artery compressio..
[+]
Harjola-Marable syndrome; Celiac artery compression syndrome; Marable's syndrome
[-]
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n_a
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carotenemia
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hypercarotinemia
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An acquired metabolic disease that is characterize.. [+]An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood.
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sensorineural hearing loss
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High Frequency Hearing Loss; high-frequency hearin..
[+]
High Frequency Hearing Loss; high-frequency hearing loss; High frequency deafness; central hearing loss; Perceptive hearing loss; Perceptive hearing loss or deafness; Sensory hearing loss; Perceptive deafness; Sensorineural Deafness
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An inner ear disease that is characterized by hear.. [+]An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
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4 articles
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ehrlichiosis
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human ehrlichiosis
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A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
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prostate cancer
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hereditary prostate cancer; malignant tumor of the..
[+]
hereditary prostate cancer; malignant tumor of the prostate; NGP - new growth of prostate; prostatic cancer; prostatic neoplasm; prostate cancer, familial; prostate neoplasm; tumor of the prostate
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A male reproductive organ cancer that is located_i.. [+]A male reproductive organ cancer that is located_in the prostate.
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7 articles
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secondary hypertrophic osteoarthropathy
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hypertrophic pulmonary osteoarthropathy (disorder)..
[+]
hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]; hypertrophic pulmonary osteoarthropathy (disorder); hypertrophic pulmonary osteoarthropathy; HPOA - hypertrophic pulmonary osteoarthropathy; Marie Bamberger disease; Bamberger-Marie disease
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n_a
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Refsum disease
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Heredopathia atactica polyneuritiformis; HSMN IV; ..
[+]
HSMN IV; Heredopathia atactica polyneuritiformis; HMSN type IV; Refsum's disease; adult Refsum disease; classic Refsum disease; phytanic acid oxidase deficiency
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A lipid metabolic disorder that is characterized b.. [+]A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
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pre-eclampsia
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hypertension induced by pregnancy; gestational hyp..
[+]
hypertension induced by pregnancy; gestational hypertension; pre-eclamptic toxaemia; preeclampsia/eclampsia; pregnancy toxemia; toxaemia of pregnancy; pregnancy associated hypertension; preeclampsia; proteinuric hypertension of pregnancy
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A hypertension occurring during pregnancy characte.. [+]A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
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1 articles
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sickle cell anemia
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HbSS disease; homozygous sickle cell disease; Hb-S..
[+]
homozygous sickle cell disease; HbSS disease; Hb-SS disease without crisis; Hemoglobin S disease without crisis; haemoglobin SC disease; Hb SC disease; hemoglobin SC disease; Hemoglobin S disease without crisis (disorder); Hb-S/Hb-C disease; sickle cell anaemia; drepanocytosis; Sickle-cell/Hb-C disease without crisis
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A sickle cell disease that is characterized by the.. [+]A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
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1 articles
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spastic hemiplegia
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hemiplegic cerebral palsy; Hemiplegic cerebral pal..
[+]
hemiplegic cerebral palsy; Hemiplegic cerebral palsy; Hemiplegic infantile cerebral palsy; spastic hemiplegic cerebral palsy; Congenital hemiplegia
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A spastic cerebral palsy that affects one side of .. [+]A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
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Alport syndrome
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Hereditary Nephritis
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A syndrome disease that is characterized by glomer.. [+]A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
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leech infestation
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Hirudiniasis; Leech infestation (disorder); Leech ..
[+]
Hirudiniasis; Leech infestation (disorder); Leech infestation; Leeches
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A parasitic ectoparasitic infectious disease that .. [+]A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream.
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trench fever
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His-Werner disease; Quintan fever; Trench fever; t..
[+]
His-Werner disease; Quintan fever; Trench fever; tibialgic fever; shin bone fever; Wolhynian fever
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A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back.
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typhus
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Hospital fever; Classical typhus (fever); endemic ..
[+]
Hospital fever; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; Exanthematic Typhus fever; Exanthematous typhus; Flea-borne rickettsiosis; Louse-borne [epidemic] typhus; Louse-borne typhus; Murine typhus; Rat flea typhus; Shop typhus; Typhus fever; European typhus; Famine fever; Mexican typhus; Ship fever; Urban typhus; Classical typhus; epidemic louse-borne typhus; Flea typhus; Jail fever; Murine [endemic] typhus; Prison fever; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; Flea-borne typhus; Louse-borne rickettsiosis; Moscow typhus; Petechial fever
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A primary bacterial infectious disease that refers.. [+]A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.
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ventilation pneumonitis
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Humidifier lung; Air-conditioner and humidifier lu..
[+]
Humidifier lung; Air-conditioner and humidifier lung
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An extrinsic allergic alveolitis caused by inhalat.. [+]An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
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Lemierre's syndrome
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human necrobacillosis; Lemierre syndrome; postangi..
[+]
human necrobacillosis; Lemierre syndrome; postanginal sepsis; acute sore throat
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A commensal bacterial infectious disease that is c.. [+]A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
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Budd-Chiari syndrome
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hepatic vein thrombosis
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A hepatic vascular disease that is characterized b.. [+]A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.
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benign hypertensive renal disease
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hypertensive renal disease, benign; hypertensive r..
[+]
hypertensive renal disease, benign; hypertensive renal disease, benign, without mention of renal failure; benign hypertensive renal disease (disorder)
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n_a
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Adie syndrome
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Holmes-Adie syndrome; Adie's pupil or syndrome; Ad..
[+]
Holmes-Adie syndrome; Adie's pupil or syndrome; Adie's syndrome; Adie's pupil syndrome
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A syndrome that is a neurological disorder affecti.. [+]A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
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Riley-Day syndrome
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HSAN III; familial dysautonomia; familial autonomi..
[+]
HSAN III; familial dysautonomia; familial autonomic nervous dysfunction
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A hereditary sensory neuropathy that is characteri.. [+]A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.
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bulimia nervosa
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hyperorexia nervosa
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An eating disorder characterized by the restrainin.. [+]An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
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factor VIII deficiency
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Hemophilia A; Subhemophilia; Congenital factor VII..
[+]
Hemophilia A; Subhemophilia; Congenital factor VIII disorder; classic hemophilia A
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A blood coagulation disease that has_material_basi.. [+]A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
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low compliance bladder
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hypertonic bladder; hypertonicity of bladder; hype..
[+]
hypertonicity of bladder; hypertonic bladder; hyperactivity of bladder; Low bladder compliance
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n_a
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cascade stomach
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Hourglass stricture or stenosis of stomach
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n_a
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Vogt-Koyanagi-Harada disease
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Harada's disease; uveomeningoencephalitic syndrome..
[+]
Harada's disease; uveomeningoencephalitic syndrome; Vogt-Koyanagi-Harada disease (disorder); Vogt-Koyanagi syndrome
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An autoimmune disease that is caused by T helper c.. [+]An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
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secondary hyperparathyroidism of renal origin
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hyperparathyroidism due to renal insufficiency; se..
[+]
hyperparathyroidism due to renal insufficiency; secondary hyperparathyroidism (of renal origin)
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n_a
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newborn respiratory distress syndrome
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HMD - Hyaline membrane disease; hyaline membrane d..
[+]
HMD - Hyaline membrane disease; hyaline membrane disease; pulmonary hyaline membrane disease; respiratory distress syndrome of newborn; Neonatal respiratory Distress syndrome; pulmonary hypoperfusion syndrome of newborn
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A respiratory failure that is characterized by def.. [+]A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
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