Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
tyrosinemia type III	DOID_0050727	[A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.]
neutral lipid storage disease	DOID_0050729	[A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.]
Homo sapiens	NCBITaxon_9606
external ear carcinoma	DOID_4288	[An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
ornithine translocase deficiency	DOID_0050720	[An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.]
adenylate cyclase agonist	CHEBI_78548
serine deficiency	DOID_0050721	[An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.]
refrigerant	CHEBI_78433
EC 1.3.5.2 [dihydroorotate dehydrogenase (quinone)] inhibitor	CHEBI_77103
EC 1.10.2.2 (quinol--cytochrome-c reductase) inhibitor	CHEBI_77106
EC 1.10.2.* (oxidoreductase acting on diphenols and related substances as donors with a cytochrome as acceptor) inhibitor	CHEBI_77105
EC 3.2.1.114 (mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase) inhibitor	CHEBI_65239
pancreatic gastrinoma	DOID_5580
islet cell tumor	DOID_1799	[A pancreatic cancer that is located_in the pancreatic islet cells.]
inserted	BAO_0000641	[A quality of the genetic material (DNA or RNA) that harbors a change (mutation), where one or more nucleotides are added either spontaneously (within the cell) or intentionally (experimentally).]
EC 3.4.21.5 (thrombin) inhibitor	CHEBI_65232
conjunctivochalasis	DOID_4250
melorheostosis	DOID_4253	[An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.]
Alexander disease	DOID_4252	[A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.]
Caffey disease	DOID_4257	[A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability.]