| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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placental choriocarcinoma
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Choriocarcinoma of the Placenta
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A gestational choriocarcinoma that is located_in t.. [+]A gestational choriocarcinoma that is located_in the placenta.
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hepatitis B
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chronic hepatitis B; hepatitis B infection; Serum ..
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chronic hepatitis B; hepatitis B infection; Serum hepatitis
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A viral infectious disease that results_in inflamm.. [+]A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.
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myotonia congenita
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Congenital myotonia, autosomal dominant form; Cong..
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Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal dominant form (disorder); Thomsen disease; Thomsen's disease; Batten Turner congenital myopathy; Thomsen and Becker disease
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A muscle tissue disease that is characterized by s.. [+]A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
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7 articles
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ectodermal dysplasia
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Congenital ectodermal dysplasia; Congenital ectode..
[+]
Congenital ectodermal dysplasia; Congenital ectodermal defect (disorder); Congenital ectodermal defect; Ectodermal dysplasia (disorder)
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A syndrome characterized by abnormal development i.. [+]A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
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nephroblastoma
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childhood renal Wilms' cancer; childhood renal Wil..
[+]
childhood renal Wilms' cancer; childhood renal Wilms tumor; adult renal Wilms' tumor; renal Wilms tumor; Wilms' tumor; adult nephroblastoma
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A kidney cancer that affects the kidneys and typic.. [+]A kidney cancer that affects the kidneys and typically located_in children.
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myeloproliferative neoplasm
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chronic myeloproliferative disease; CMPD; CMPD, U; ..
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CMPD, U; CMPD; chronic myeloproliferative disease
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A myeloid neoplasm that is characterized by a grou.. [+]A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
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1 articles
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factor XI deficiency
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Congenital factor XI deficiency; Hereditary factor..
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Congenital factor XI deficiency; Hereditary factor XI deficiency disease; plasma thromboplastin antecedent deficiency; Rosenthal's disease; hemophilia C
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A blood coagulation disease that is characterized .. [+]A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
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prothrombin deficiency
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Congenital factor II deficiency; Factor II deficie..
[+]
Congenital factor II deficiency; Factor II deficiency; hypoprothrombinemia; Hereditary factor II deficiency disease
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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.
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hepatitis
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chronic hepatitis; chronic persistent hepatitis; a..
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chronic persistent hepatitis; chronic hepatitis; acute and subacute liver necrosis; acute/subac. necrosis of liver; animal hepatitis; acute hepatitis
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n_a
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osteochondrodysplasia
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Cartilage Development disorder; Congenital anomaly..
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Cartilage Development disorder; Congenital anomaly of cartilage; chondrodystrophy; Congenital anomaly of cartilage (disorder); Osteochondrodysplasia syndrome (disorder); Osteochondrodysplasia syndrome; skeletal dysplasia
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A bone development disease that results_in defecti.. [+]A bone development disease that results_in defective development of cartilage or bone.
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10 articles
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9 matches
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vulvovaginal candidiasis
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Candidal: cervix; Candidal cervix; Candidal: [vulv..
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Candidal cervix; Candidal: cervix; Candidal: [vulvovaginitis NOS] or [cervix]; Candidiasis of vulva and vagina; Candidal vulvovaginitis NOS (disorder); Candidal vulvovaginitis (disorder); Candidal vulvovaginitis; Monilial vulvovaginitis; Vulvovaginal Candidiasis
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A candidiasis that involves fungal infection of th.. [+]A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
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pharyngitis
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chronic sore throat; chronic pharyngitis and nasop..
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chronic sore throat; chronic pharyngitis and nasopharyngitis; chronic pharyngitis; chronic pharyn/nasopharyngitis; Inflamed throat; Persistent sore throat; Pharyngeal disorder; Pharyngitis - acute; Sore throat - chronic; acute sore throat; acute pharyngitis; pharyngeal disease
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An upper respiratory tract disease involving infla.. [+]An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
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brain ischemia
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cerebral ischemia; Ischaemic encephalopathy; Ische..
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cerebral ischemia; Ischaemic encephalopathy; Ischemic encephalopathy (disorder); Ischemic encephalopathy
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An ischemia that is characterized by insufficient .. [+]An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
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1 articles
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gastroenteritis
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cholera morbus; infectious colitis, enteritis and ..
[+]
cholera morbus; infectious colitis, enteritis and gastroenteritis
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A gastrointestinal system infectious disease that .. [+]A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
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1 articles
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arteriosclerotic cardiovascular disease
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Cardiovascular arteriosclerosis; Cardiovascular ar..
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Cardiovascular arteriosclerosis; Cardiovascular arteriosclerosis unspecified (disorder); Arteriosclerotic Cardiovascular disease; Arteriosclerotic cardiovascular disease; Arteriosclerotic cardiovascular disease, NOS; Atherosclerotic cardiovascular disease; Atherosclerotic Cardiovascular disease
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n_a
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1 articles
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hereditary elliptocytosis
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Congenital elliptocytosis; ovalocytosis
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A hematopoietic system disease characterized by ov.. [+]A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
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glandular cystitis
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cystitis glandularis
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n_a
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skin glomangioma
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Cutaneous Glomangioma; Glomangioma of skin (disord..
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Cutaneous Glomangioma; Glomangioma of skin (disorder); Glomangioma of skin
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n_a
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relapsing polychondritis
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Chondromalacia, systemic
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A chondromalacia that is characterized by recurren.. [+]A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
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rhizomelic chondrodysplasia punctata
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Chondrodysplasia Punctata, Rhizomelic Form
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A chondrodysplasia punctata that is characterized .. [+]A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
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familial nephrotic syndrome
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Congenital nephrotic syndrome; Congenital Nephroti..
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Congenital nephrotic syndrome; Congenital Nephrotic syndrome
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A nephrotic syndrome that has_material_basis_in ge.. [+]A nephrotic syndrome that has_material_basis_in genetic mutations.
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1 articles
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glottis cancer
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Ca larynx - glottis; Ca larynx - glottis (disorder..
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Ca larynx - glottis; Ca larynx - glottis (disorder); malignant tumor of glottis (disorder); malignant tumor of glottis; malignant tumor of the Glottis
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n_a
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glottis carcinoma
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carcinoma of glottis; carcinoma of glottis (disord..
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carcinoma of glottis; carcinoma of glottis (disorder); Glottic carcinoma
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n_a
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laryngeal carcinoma
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cancer of Larynx; carcinoma of larynx; carcinoma o..
[+]
carcinoma of larynx; cancer of Larynx; carcinoma of larynx (disorder); cancer of larynx
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A larynx cancer that has_material_basis_in epithel.. [+]A larynx cancer that has_material_basis_in epithelial cells.
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dermoid cyst
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cystic dermoid choristoma; Dermoid choristoma; Mat..
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cystic dermoid choristoma; Dermoid choristoma; Mature cystic teratoma; teratoma, benign (morphologic abnormality); teratoma, benign; Dermoid tumour
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A cystic teratoma that is composed exclusively of .. [+]A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
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skin sarcoma
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Cutaneous sarcoma
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A sarcoma that is located_in the skin.
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Bloom syndrome
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Congenital Telangiectatic Erythema syndrome; Bloom..
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Congenital Telangiectatic Erythema syndrome; Bloom-Torre-Machacek syndrome
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A syndrome characterized by sun sensitivity, short.. [+]A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
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Rothmund-Thomson syndrome
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Congenital poikiloderma; Rothmund-Thomson syndrome..
[+]
Congenital poikiloderma; Rothmund-Thomson syndrome (disorder); RTS
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A skin disease characterized by poikiloderma, cong.. [+]A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
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2 articles
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Hajdu-Cheney syndrome
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Cheney syndrome; arthrodentoosteodysplasia; HJCYS; ..
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Cheney syndrome; arthrodentoosteodysplasia; HJCYS; serpentine fibula-polycystic kidney syndrome; SFPKS; acroosteolysis with osteoporosis and changes in skull and mandible
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A bone disease characterized by short stature, coa.. [+]A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
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Gilbert syndrome
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Constitutional hyperbilirubinemia; Gilbert's disea..
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Constitutional hyperbilirubinemia; Gilbert's disease; Gilbert-Meulengracht syndrome; Gilbert's syndrome; hereditary nonhemolytic jaundice
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A bilirubin metabolic disorder that involves eleva.. [+]A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
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acalculous cholecystitis
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cholecystitis without calculus; cholecystitis with..
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cholecystitis without calculus; cholecystitis without calculus (disorder); acute cholecystitis without calculus (disorder); acute cholecystitis without calculus; acute acalculous cholecystitis
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A cholecystitis characterized by the absence of ga.. [+]A cholecystitis characterized by the absence of gallstones.
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asthma
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chronic obstructive asthma with status asthmaticus..
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chronic obstructive asthma with status asthmaticus; chronic obstructive asthma with acute exacerbation; chronic obstructive asthma; bronchial hyperreactivity; Exercise induced asthma; exercise-induced asthma
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A bronchial disease that is characterized by chron.. [+]A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
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4 articles
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endometrial carcinoma
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carcinoma of the Endometrium; endometrioid carcino..
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carcinoma of the Endometrium; endometrioid carcinoma of female Reproductive system; endometrioid carcinoma
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A endometrial cancer that is located_in the tissue.. [+]A endometrial cancer that is located_in the tissue lining the uterus.
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1 articles
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exocervical carcinoma
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carcinoma of the Exocervix; carcinoma of exocervix..
[+]
carcinoma of the Exocervix; carcinoma of exocervix
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A cervix carcinoma that is located_in the exocervi.. [+]A cervix carcinoma that is located_in the exocervix.
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membranoproliferative glomerulonephritis
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chronic glomerulonephritis, lobular; Lobular glome..
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chronic glomerulonephritis, lobular; Lobular glomerulonephritis
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n_a
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testicular cancer
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childhood neoplasm of the testis; neoplasm of test..
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childhood neoplasm of the testis; neoplasm of testis (disorder); pediatric testicular neoplasm; testicular tumor; testis neoplasm; testicular tumor (disorder); neoplasm of testis; testis cancer
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A male reproductive system cancer that is located_.. [+]A male reproductive system cancer that is located_in the testicles.
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malignant astrocytoma
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cerebral astrocytoma; Astrocytic tumor; astrocytom..
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cerebral astrocytoma; Astrocytic tumor; astrocytoma of brain (disorder); astrocytoma, no ICD-O subtype (morphologic abnormality); astrocytoma of brain; astrocytoma of Cerebrum; Astrocytoma, NOS; astroglioma
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A malignant glioma that is has_material_basis_in a.. [+]A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
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6 articles
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8 matches
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gingivitis
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chronic gingivitis; acute gingivitis
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n_a
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hyperlipoproteinemia type III
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carbohydrate induced hyperlipemia; familial type 3..
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carbohydrate induced hyperlipemia; familial type 3 hyperlipoproteinemia (disorder); Remnant hyperlipidemia; familial hypercholesterolaemia with hyperlipaemia; familial type 3 hyperlipoproteinemia
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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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skin papilloma
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cutaneous papilloma; Cutaneous papilloma; papillom..
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Cutaneous papilloma; cutaneous papilloma; papilloma of skin; papilloma of skin (disorder); skin papilloma NOS
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A skin benign neoplasm that is composed of epithel.. [+]A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.
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junctional epidermolysis bullosa
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congenital junctional epidermolysis bullosa; conge..
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congenital junctional epidermolysis bullosa; congenital junctional epidermolysis bullosa (disorder)
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An epidermolysis bullosa that is characterized by .. [+]An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
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aspiration pneumonitis
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Chemical pneumonitis; Mendelson's Syndrome
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A pneumonia that is defined as an acute lung injur.. [+]A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
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ovarian cystadenoma
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Cystoma Serosum simplex; simple cystoma of ovary; ..
[+]
Cystoma Serosum simplex; simple cystoma of ovary; simple cystoma of the ovary (disorder); simple cystoma of the ovary
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An ovarian benign neoplasm that has_material_basis.. [+]An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
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histiocytosis
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chronic Histiocytosis X; Hand Schuller Christian d..
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chronic Histiocytosis X; Hand Schuller Christian disease
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A lymphatic system disease that is characterized b.. [+]A lymphatic system disease that is characterized by an excessive number of histiocytes.
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scrotal carcinoma
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carcinoma of scrotum
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n_a
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penis carcinoma
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carcinoma of penis (disorder); carcinoma of penis; ..
[+]
carcinoma of penis; carcinoma of penis (disorder); Penile carcinoma
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A penile cancer that is located_in the skin or tis.. [+]A penile cancer that is located_in the skin or tissues of the penis.
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skin carcinoma
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carcinoma of skin
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A skin cancer that is located_in tissues of the sk.. [+]A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
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1 articles
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3 matches
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breast carcinoma
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carcinoma of breast; Mammary carcinoma
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A breast cancer that has_material_basis_in abnorma.. [+]A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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2 articles
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mixed connective tissue disease
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Connective tissue disease overlap syndrome; Connec..
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Connective tissue disease overlap syndrome; Connective tissue disease overlap syndrome (disorder); mixed collagen vascular disease (disorder); mixed collagen vascular disease
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A collagen disease that is considered an overlap o.. [+]A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
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liver cancer
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Ca liver - primary (disorder); Ca liver - primary; ..
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Ca liver - primary; Ca liver - primary (disorder); ca liver - primary; hepatic cancer; hepatic neoplasm; malignant hepato-biliary neoplasm; malignant neoplasm of liver (disorder); malignant neoplasm of liver unspecified (disorder); malignant neoplasm of liver, primary; malignant tumor of liver (disorder); non-resectable primary hepatic malignant neoplasm; primary liver cancer; primary malignant neoplasm of liver; primary malignant neoplasm of liver NOS (disorder); malignant neoplasm of liver; neoplasm of liver (disorder); primary malignant neoplasm of liver (disorder); malignant tumor of liver; resectable malignant neoplasm of the liver; malignant neoplasm of liver, not specified as primary or secondary; Resectable malignant neoplasm of Liver; primary malignant neoplasm of Liver; neoplasm of liver
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A hepatobiliary system cancer that is located_in t.. [+]A hepatobiliary system cancer that is located_in the liver.
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2 articles
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