Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
nuclear oculomotor paralysis	MONDO_0015083
neuroendocrine cell hyperplasia of infancy	MONDO_0016322	[Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.]
interstitial lung disease specific to infancy	MONDO_0017019
chronic respiratory distress with surfactant metabolism deficiency	MONDO_0016323
primary interstitial lung disease in childhood and adulthood	MONDO_0017031
hereditary pulmonary alveolar proteinosis	MONDO_0012580	[Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.]
acrofacial dysostosis, Kennedy-Teebi type	MONDO_0018980	[Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.]
Ngari virus	NCBITaxon_273357
signet ring cell intrahepatic cholangiocarcinoma	MONDO_0004346	[An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.]
extrahepatic bile duct signet ring cell carcinoma	MONDO_0002664	[An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.]
intrahepatic cholangiocarcinoma	EFO_1001961	[A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.]
retinal telangiectasia	MONDO_0004348
Pima Indian	HANCESTRO_0570
Native Hawaiian	HANCESTRO_0573
nucleoside biosynthetic process	GO_0009163	[ The chemical reactions and pathways resulting in the formation of any one of a family of organic molecules consisting of a purine or pyrimidine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside). ]
organonitrogen compound biosynthetic process	GO_1901566	[ The chemical reactions and pathways resulting in the formation of organonitrogen compound. ]
glycosyl compound biosynthetic process	GO_1901659	[ The chemical reactions and pathways resulting in the formation of glycosyl compound. ]
Yoruban	HANCESTRO_0575
Unclassified intestinal pseudoobstruction	Orphanet_104078
Congenital intestinal motility disorder	Orphanet_104009