| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
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CLL/SLL with Unmutated IGVH
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n_a
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localized scleroderma
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Circumscribed scleroderma NOS (disorder); Circumsc..
[+]
Circumscribed scleroderma NOS (disorder); Circumscribed scleroderma; localised morphoea; localized morphea (disorder); localized scleroderma (disorder) [Ambiguous]; Morphea; Scleroderma, circumscribed or localized; Unspecified circumscribed scleroderma (disorder)
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n_a
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hereditary night blindness
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Congenital night blindness; Oguchi's disease
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n_a
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Kaposi's sarcoma
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cutaneous Kaposi's sarcoma; Cutaneous Kaposi's sar..
[+]
cutaneous Kaposi's sarcoma; Cutaneous Kaposi's sarcoma; corneal Kaposi's sarcoma; Corneal Kaposi's sarcoma; conjunctival Kaposi's sarcoma; Conjunctival Kaposi's sarcoma; central nervous system Kaposi's sarcoma; cardiac Kaposi's sarcoma; African lymphadenopathic Kaposi's sarcoma; anal Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; gastric Kaposi's sarcoma; intestinal Kaposi's sarcoma; Kaposi sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva (disorder); Kaposi's sarcoma of cornea (disorder); Kaposi's sarcoma of esophagus; Kaposi's sarcoma of gastrointestinal sites; Kaposi's sarcoma of Heart; Kaposi's sarcoma of lung (disorder); Kaposi's sarcoma of lymph nodes; Kaposi's sarcoma of lymph nodes (disorder); Kaposi's sarcoma of palate (disorder); Kaposi's sarcoma of penis; Kaposi's sarcoma of skin; Kaposi's sarcoma of skin (disorder); Kaposi's sarcoma of soft tissue (disorder); Kaposi's sarcoma of soft tissues (disorder); Kaposi's sarcoma of the CNS; Kaposi's sarcoma of the gallbladder; Kaposi's sarcoma of the prostate; Kaposi's sarcoma, lung; Kaposi's sarcoma, skin; Kaposi's sarcoma-associated herpesvirus (KSHV); lymph node Kaposi's sarcoma; lymphadenopathic Kaposi's sarcoma; Palate Kaposi's sarcoma; palate Kaposi's sarcoma; penis Kaposi's sarcoma; prostate Kaposi's sarcoma; pulmonary Kaposi's sarcoma; soft tissue Kaposi's sarcoma; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of lung; Kaposi's sarcoma of palate; Kaposi's sarcoma of soft tissue; Kaposi's sarcoma of soft tissues
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A connective tissue cancer that derives_from lymph.. [+]A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8).
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prostate carcinoma in situ
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carcinoma in situ of prostate; grade III PIN; PIN ..
[+]
carcinoma in situ of prostate; grade III PIN; PIN III
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An in situ carcinoma that is located_in the prosta.. [+]An in situ carcinoma that is located_in the prostate.
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myeloid sarcoma
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Chloroma; Extramedullary Myeloid tumor; Granulocyt..
[+]
Chloroma; Extramedullary Myeloid tumor; Granulocytic sarcoma
[-]
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n_a
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skin carcinoma in situ
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Cutaneous carcinoma in situ; carcinoma in situ of ..
[+]
Cutaneous carcinoma in situ; carcinoma in situ of skin
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A carcinoma in situ that is characterized by the s.. [+]A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.
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neurofibromatosis
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central Neurofibromatosis; Acoustic neurofibromato..
[+]
central Neurofibromatosis; Acoustic neurofibromatosis; Neurofibromatosis 1; neurofibromatosis type 1; neurofibromatosis type 2; neurofibromatosis type 4; neurofibromatosis type IV; peripheral Neurofibromatosis; Recklinghausen's neurofibromatosis; type IV neurofibromatosis of riccardi; von Reklinghausen disease
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n_a
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breast carcinoma in situ
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carcinoma in situ of breast; Non-Infiltrating carc..
[+]
carcinoma in situ of breast; Non-Infiltrating carcinoma of breast
[-]
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An in situ carcinoma that is located_in the breast.. [+]An in situ carcinoma that is located_in the breast.
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eye carcinoma in situ
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carcinoma in situ of eye
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A carcinoma in situ that is characterized by the s.. [+]A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues.
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trachea carcinoma in situ
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carcinoma in situ of trachea; Tracheal carcinoma I..
[+]
carcinoma in situ of trachea; Tracheal carcinoma In situ
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An in situ carcinoma that is located_in the trache.. [+]An in situ carcinoma that is located_in the trachea.
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Hodgkin's lymphoma, nodular sclerosis
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Classical Hodgkin lymphoma, nodular sclerosis; Hod..
[+]
Classical Hodgkin lymphoma, nodular sclerosis; Hodgkin lymphoma, nodular sclerosis; Hodgkin's disease nodular sclerosis NOS; Hodgkin's disease, nodular sclerosis; Hodgkin's disease, nodular sclerosis (disorder); Hodgkin's disease, nodular sclerosis NOS (disorder); Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality); Hodgkin's disease, nodular sclerosis of unspecified site (disorder); NSHL
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n_a
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pulmonary subvalvular stenosis
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Congenital Infundibular Stenosis; Infundibular pul..
[+]
Congenital Infundibular Stenosis; Infundibular pulmonic stenosis (disorder); Infundibular pulmonic stenosis, congenital; pulmonary infundibular stenosis (disorder); Subvalvular pulmonic stenosis; Infundibular pulmonic stenosis; pulmonary infundibular stenosis
[-]
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n_a
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penis carcinoma in situ
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carcinoma in situ of penis; Bowen's disease of pen..
[+]
carcinoma in situ of penis; Bowen's disease of penis; grade III squamous Intraepithelial Lesion of penis; Penile intraepithelial neoplasia grade III; Queyrat's erythroplasia
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n_a
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skin melanoma
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cutaneous melanoma; malignant ear melanoma; malign..
[+]
cutaneous melanoma; malignant ear melanoma; malignant lip melanoma; malignant lower limb melanoma; malignant melanoma of ear and/or external auricular canal; malignant melanoma of skin of lower limb; malignant melanoma of skin of trunk except scrotum; malignant melanoma of skin of upper limb; malignant neck melanoma; malignant scalp melanoma; malignant trunk melanoma; malignant upper limb melanoma
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A skin cancer that has_material_basis_in melanocyt.. [+]A skin cancer that has_material_basis_in melanocytes.
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seborrheic infantile dermatitis
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Complement 5 dysfunction; cradle cap; Generalized ..
[+]
cradle cap; Complement 5 dysfunction; Generalized seborrheic dermatitis of infants; Infantile seborrheic dermatitis; Infantile seborrheic dermatitis NOS (disorder); Infantile seborrhoeic dermatitis; Pityriasis capitis; Seborrhea capitis; seborrhea capitis; Seborrhea sicca; Seborrhoea capitis; Seborrhoeic dermatitis of scalp; Seborrhoeic eczema of scalp
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A seborrheic dermatitis that involves fungal infec.. [+]A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp.
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sudden infant death syndrome
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Crib death (context-dependent category); Cot death..
[+]
Crib death (context-dependent category); Cot death (context-dependent category); Cot death; SIDS; Sudden death of nonspecific cause in infancy; Sudden infant death syndrome (context-dependent category); Sudden infant death syndrome (finding); Sudden infant death syndrome NOS (context-dependent category)
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A syndrome that is characterized by the sudden dea.. [+]A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.
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larynx carcinoma in situ
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carcinoma in situ of larynx; stage 0 carcinoma of ..
[+]
carcinoma in situ of larynx; stage 0 carcinoma of the Larynx
[-]
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An in situ carcinoma that is located_in the larynx.. [+]An in situ carcinoma that is located_in the larynx.
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parotid gland cancer
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cancer of parotid gland; malignant neoplasm of the..
[+]
cancer of parotid gland; malignant neoplasm of the Parotid; malignant tumor of parotid gland (disorder); parotid cancer
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A salivary gland cancer that is located_in the par.. [+]A salivary gland cancer that is located_in the parotid gland.
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bladder carcinoma in situ
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carcinoma in situ of bladder; bladder Ca in situ; ..
[+]
carcinoma in situ of bladder; bladder Ca in situ; Flat CIS of the urinary bladder
[-]
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n_a
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anal carcinoma in situ
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carcinoma in situ of anus; carcinoma in situ of an..
[+]
carcinoma in situ of anus; carcinoma in situ of anal canal; anal carcinoma stage 0; anal intraepithelial neoplasia grade III
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n_a
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esophagus carcinoma in situ
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carcinoma in situ of esophagus; Severe esophageal ..
[+]
carcinoma in situ of esophagus; Severe esophageal dysplasia; stage 0 carcinoma of the esophagus
[-]
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n_a
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liver carcinoma in situ
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carcinoma in situ of liver, gallbladder and bile d..
[+]
carcinoma in situ of liver, gallbladder and bile ducts; carcinoma in situ of liver and biliary system
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n_a
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stomach carcinoma in situ
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carcinoma in situ of stomach; gastric carcinoma in..
[+]
carcinoma in situ of stomach; gastric carcinoma in situ
[-]
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An in situ carcinoma that is located_in the stomac.. [+]An in situ carcinoma that is located_in the stomach.
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variola minor
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cottonpox; Alastrim; milkpox; Variola minor; white..
[+]
cottonpox; Alastrim; milkpox; Variola minor; whitepox
[-]
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A smallpox that results_in milder infection, locat.. [+]A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
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mucocutaneous leishmaniasis
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Cutaneous leishmaniasis, American; American Cutane..
[+]
Cutaneous leishmaniasis, American; American Cutaneous Leishmaniasis; American cutaneous leishmaniasis; American mucocutaneous leishmaniasis; American mucocutaneous leishmaniasis (disorder); Mucocutaneous leishmaniasis, (American); Mucocutaneous leishmaniasis, American; New World cutaneous leishmaniasis
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A leishmaniasis that involves a chronic inflammato.. [+]A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
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achalasia
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cardiospasm; achalasia of cardia; achalasia of eso..
[+]
cardiospasm; achalasia of cardia; achalasia of esophagus; esophageal achalasia; hypertensive lower esophageal sphincter; Lack of reflex relaxation of lower oesophageal sphincter
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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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rectum carcinoma in situ
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carcinoma in situ of rectum; Severe dysplasia of r..
[+]
carcinoma in situ of rectum; Severe dysplasia of rectum; Severe Rectal Dysplasia
[-]
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n_a
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amebiasis
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chronic intestinal amebiasis; amoebiasis; entamoeb..
[+]
chronic intestinal amebiasis; amoebiasis; entamoebiasis
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A parasitic protozoa infectious disease that invol.. [+]A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
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Barrett's esophagus
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CLE; (ulcerative esophagitis) or (Barrett's esopha..
[+]
CLE; (ulcerative esophagitis) or (Barrett's esophagus); Barrett esophagus; Barrett's esophagus with esophagitis; Barrett's oesophagus; Barrett's ulcer of esophagus; Barretts syndrome; ulcerative esophagitis
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An esophageal disease characterized by a change of.. [+]An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.
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pompholyx
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Cheiropompholyx; dyshidrosis; DYSHYDROTIC ECZEMA; ..
[+]
Cheiropompholyx; dyshidrosis; DYSHYDROTIC ECZEMA; Vesicular eczema of hands and/or feet
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A sweat gland disease that is characterized by rec.. [+]A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin.
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nasopharynx carcinoma
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carcinoma of nasopharynx; malignant Nasopharyngeal..
[+]
carcinoma of nasopharynx; malignant Nasopharyngeal tumor; malignant neoplasm of anterior wall of nasopharynx; malignant neoplasm of lateral wall of nasopharynx; malignant neoplasm of lateral wall of nasopharynx NOS (disorder); malignant neoplasm of nasopharyngeal wall (disorder); malignant neoplasm of nasopharyngeal wall NOS; malignant neoplasm of nasopharynx; malignant neoplasm of nasopharynx (disorder) [Ambiguous]; malignant neoplasm of other specified sites of nasopharynx; malignant neoplasm of posterior wall of nasopharynx; malignant neoplasm of roof of nasopharynx; malignant neoplasm of superior wall of nasopharynx; malignant tumor of anterior wall of nasopharynx; malignant tumor of lateral wall of nasopharynx; malignant tumor of posterior wall of nasopharynx; Nasopharyngeal carcinoma; nasopharynx cancer; primary malignant neoplasm of anterior wall of nasopharynx
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A pharynx cancer that is located_in the nasopharyn.. [+]A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or \"throat\", where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.
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homocystinuria
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cystathionine synthase deficiency; cystathionine b..
[+]
cystathionine synthase deficiency; cystathionine beta synthase deficiency; CBS deficiency
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An amino acid metabolic disorder that involves an .. [+]An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
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Taylor's syndrome
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Congestion-fibrosis syndrome; pelvic congestion sy..
[+]
Congestion-fibrosis syndrome; pelvic congestion syndrome; Taylor syndrome
[-]
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n_a
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tracheitis
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chronic tracheitis; acute tracheitis
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A tracheal disease which involves bacterial infect.. [+]A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
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uterine corpus cancer
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corpus uteri cancer
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A uterine cancer that is located_in the uterine co.. [+]A uterine cancer that is located_in the uterine corpus.
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primary ciliary dyskinesia
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ciliary motility disorder; immotile ciliary syndro..
[+]
ciliary motility disorder; immotile ciliary syndrome
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A ciliopathy that is characterized by impaired fun.. [+]A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
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aphthous stomatitis
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Canker sore; Aphtha; Aphthous ulceration (disorder..
[+]
Canker sore; Aphtha; Aphthous ulceration (disorder); Oral aphthae; Oral aphthous ulcer; oral ulcer; Aphthous ulceration
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A stomatitis characterized by the repeated formati.. [+]A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
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noma
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Cancrum oris; Gangrenous stomatitis
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n_a
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heart aneurysm
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cardiac aneurysm
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n_a
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partial central choroid dystrophy
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Choroidal dystrophy, central areolar
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n_a
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esotropia
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Convergence in manifest squint; crossed eyes; Inte..
[+]
crossed eyes; Convergence in manifest squint; Internal Strabismus
[-]
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Esotropia is a strabismus in which the eye turns i.. [+]Esotropia is a strabismus in which the eye turns inward toward the nose.
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total circumpapillary dystrophy of choroid
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Circumpapillary dystrophy of choroid, total
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n_a
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median arcuate ligament syndrome
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Celiac artery compression syndrome; Harjola-Marabl..
[+]
Celiac artery compression syndrome; Harjola-Marable syndrome; Marable's syndrome
[-]
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n_a
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meibomian cyst
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Chalazion; meibomian gland lipogranuloma
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A blepharitis that is characterized as a cyst in t.. [+]A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid.
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steroid-induced glaucoma
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Corticosteroid-induced glaucoma
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A glaucoma characterized by elevated intraocular p.. [+]A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use.
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sensorineural hearing loss
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central hearing loss; High frequency deafness; Hig..
[+]
central hearing loss; High frequency deafness; High Frequency Hearing Loss; high-frequency hearing loss; Perceptive deafness; Perceptive hearing loss; Perceptive hearing loss or deafness; Sensorineural Deafness; Sensory hearing loss
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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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duodenum cancer
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cancer of duodenum; Duodenal cancer; duodenal neop..
[+]
cancer of duodenum; Duodenal cancer; duodenal neoplasm
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A small intestine cancer that is located_in the be.. [+]A small intestine cancer that is located_in the beginning section of the small intestine.
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migraine with aura
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classic migraine
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A migraine characterized by migraine headache whic.. [+]A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
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keratoconus
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conical cornea
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A corneal disease characterized by structural chan.. [+]A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
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