All terms in MONDO_RARE

Label Id Description
infectious posterior uveitis MONDO_0017209
choroiditis MONDO_0001280 [An inflammatory process that affects the choroid.]
endophthalmitis MONDO_0016047 [An infectious process affecting the internal structures of the eye.]
autism, susceptiblity to MONDO_0020836
inherited disease susceptibility MONDO_0020573 [A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.]
methemoglobinemia, alpha type MONDO_0020835
hereditary methemoglobinemia MONDO_0018963 [Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.]
toxic maculopathy due to antimalarial drugs MONDO_0017204 [Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.]
eye disorder MONDO_0005328 [A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.]
mosaic trisomy 8 MONDO_0019867 [Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.]
chromosome 8, trisomy MONDO_0043452 [A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.]
adenocarcinoma of gallbladder and extrahepatic biliary tract MONDO_0018536 [Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.]
extrahepatic bile duct adenocarcinoma MONDO_0002665 [A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct]
carcinoma of gallbladder and extrahepatic biliary tract MONDO_0018918 [Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.]
biliary cystadenocarcinoma MONDO_0018535 [A cystadenocarcinoma that involves the biliary tree.]
biliary tract cancer MONDO_0003060 [A malignant neoplasm involving the biliary tree]
cystadenocarcinoma MONDO_0005596 [A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.]
carcinoma of liver and intrahepatic biliary tract MONDO_0018531 [A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.]
mosaic trisomy 5 MONDO_0019866 [Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.]
trisomy MONDO_0700065 [A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.]