Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
human urinary metabolite	CHEBI_84087
trichorhinophalangeal syndrome type I	DOID_14743	[An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).]
Partington syndrome	DOID_14744	[A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.]
syndromic X-linked intellectual disability	DOID_0060309	[A syndromic intellectual characterized by an X-linked inheritance pattern.]
Sotos syndrome	DOID_14748	[An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.]
hepatic encephalopathy	DOID_13413	[A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.]
assay biology component	BAO_0003114
pustulosis of palm and sole	DOID_4398
signal decrease corresponding to inhibition	BAO_0000261	[Increase in perturbation (reported by the endpoint mode of action, inhibition) is correlated to decrease in signal.]
signal decrease	BAO_0080025
signal increase corresponding to activation	BAO_0000260	[Increase in perturbation (reported by the endpoint mode of action, activation) is correlated to increase in signal.]
signal increase	BAO_0080026
glioblastoma multiforme	DOID_3068	[An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.]
astrocytoma	DOID_3069	[A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum.]
methylmalonic acidemia	DOID_14749	[An organic acidemia that involves an accumulation of methylmalonic acid in the blood.]
acneiform dermatitis	DOID_4399
DNA region	BAO_0003018	[The categorization of different functional or non-functional elements in DNA.]
gene	BAO_0000582	[A genomic sequence, which is the unit of heredity of a living organism. It consists of regulatory regions and transcribed regions.]
substrate	BAO_0003063	[The role of a molecular entity to serve as the input for an enzymatic reaction that generates a product, e.g. ATP has the role of a substrate for ATPase, which hydrolyzes it to produce ADP and Pi.]
isovaleric acidemia	DOID_14753	[An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.]