| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Melkersson-Rosenthal syndrome
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Cheilitis granulomatosa of Mescher-Melkersson-Rose..
[+]
Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal; Melkersson's syndrome
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n_a
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pancreatic cancer
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Ca head of pancreas; Ca tail of pancreas; Ca body ..
[+]
Ca tail of pancreas; Ca head of pancreas; Ca body of pancreas; malignant neoplasm of tail of pancreas; pancreas neoplasm; pancreatic neoplasm; pancreatic tumor; malignant neoplasm of body of pancreas; malignant neoplasm of head of pancreas
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An endocrine gland cancer located_in the pancreas.
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3 articles
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6 matches
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pancreatic endocrine carcinoma
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carcinoma of endocrine pancreas; carcinoma of endo..
[+]
carcinoma of endocrine pancreas; carcinoma of endocrine pancreas (disorder); Islet cell carcinoma (morphologic abnormality); Islet cell carcinoma; malignant neoplasm of islets of Langerhans; pancreatic neuroendocrine carcinoma
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An islet cell tumor that has_material_basis_in epi.. [+]An islet cell tumor that has_material_basis_in epithelial cells.
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Menkes disease
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COPPER TRANSPORT DISEASE; Menkes kinky-hair syndro..
[+]
COPPER TRANSPORT DISEASE; Menkes kinky-hair syndrome; steely hair syndrome
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n_a
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giant cell reparative granuloma
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central giant cell reparative granuloma of jaw; ce..
[+]
central giant cell reparative granuloma of jaw; central giant cell granuloma; central giant cell reparative granuloma of jaw (disorder); central giant cell (reparative) granuloma
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n_a
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atrial heart septal defect
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congenital atrial septal defect; atrial septal def..
[+]
congenital atrial septal defect; atrial septal defect; atrioseptal defect; interatrial septal defect; auricular septal defect; interauricular septal defect
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A heart septal defect located_in in the septum tha.. [+]A heart septal defect located_in in the septum that separates the two atria of the heart.
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2 articles
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hepatitis C
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chronic hepatitis C; Viral hepatitis C; hepatitis ..
[+]
chronic hepatitis C; Viral hepatitis C; hepatitis C infection; NANBH; hepatitis nonA nonB
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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 Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
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allergic contact dermatitis of eyelid
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Contact and allergic dermatitis of eyelid
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A noninfectious dermatoses of eyelid that is chara.. [+]A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant.
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Lesch-Nyhan syndrome
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Complete hypoxanthine-guanine phosphoribosyltransf..
[+]
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; deficiency of IMP pyrophosphorylase; HG-PRT deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch-Nyhan syndrome (disorder); X-linked hyperuricemia (disorder) [Ambiguous]; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency; X-linked hyperuricemia; Hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch - Nyhan syndrome
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A purine-pyrimidine metabolic disorder characteriz.. [+]A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.
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fallopian tube carcinoma
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carcinoma of fallopian tube; carcinoma of fallopia..
[+]
carcinoma of fallopian tube; carcinoma of fallopian tube (disorder); cancer of the fallopian tube; fallopian tube Ca
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A fallopian tube cancer that is located_in the fal.. [+]A fallopian tube cancer that is located_in the fallopian tube.
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rectum cancer
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carcinoma of rectum; carcinoma of the rectum; canc..
[+]
carcinoma of the rectum; carcinoma of rectum; cancer of rectum; malignant Rectal tumor; malignant tumor of rectum (disorder); malignant neoplasm of rectum; malignant rectum tumor; malignant tumor of rectum; rectal cancer
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A colorectal cancer that is located_in the rectum.
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preretinal fibrosis
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cellophane maculopathy; Macular puckering of retin..
[+]
cellophane maculopathy; Macular puckering of retina; Macular retinal puckering
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n_a
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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 ..
[+]
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..
[+]
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; ..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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; ..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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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