Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
Duchenne muscular dystrophy	DOID_11723	[A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.]
myotonic dystrophy type 1	DOID_11722	[A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.]
myotonic disease	DOID_450	[A muscular dystrophy that is characterized by progressive muscle wasting and weakness.]
distal muscular dystrophy	DOID_11720
panel-assay profile endpoint	BAO_0002139
Lyme disease	DOID_11729	[A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.]
facioscapulohumeral muscular dystrophy	DOID_11727
myositis ossificans	DOID_668	[A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.]
Emery-Dreifuss muscular dystrophy	DOID_11726	[A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.]
Cornelia de Lange syndrome	DOID_11725	[A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.]
limb-girdle muscular dystrophy	DOID_11724	[A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.]
logP	BAO_0002130	[Logarithm (log10) of the Partition Coefficient, P, which is defined as ratio of concentrations of a small molecule / drug distributed in octanol and water. LogP refers to the distribution of un-ionized (neutral species of) compound between the two immiscible phases at equilibrium; the pH is adjusted such that the major microspecies is the un-ionized form. A larger logP means the compound / drug is more hydrophobic (greasy) and a lower logP corresponds to better solubility in water.]
pKa	BAO_0002131	[pKa is the negative log10 of the acid dissociation constant (Ka) of a molecule. Ka is the equilibrium constant for dissociation of the protonated base (acid) into the free base and a proton (hydromium ion).]
percent purity	BAO_0002132	[Percent purity is the ratio of mass of pure compound to the actual mass of the available/vendor supplied compound, multiplied by 100. The majority of compounds and elemental substances are only available with a larger or smaller amount of impurities, which contribute to the mass of the impure compound.]
permeability A-B	BAO_0002133	[This is measured to assess the transport of a drug across the cell monolayer in the apical to basolateral (A-B) direction. Typically, CaCo2 cells are used in the permeability measurements during the ADME phase, which model the intestinal epithelium..]
permeability B-A	BAO_0002134	[This is measured to assess the transport of a drug across the cell monolayer in the basolateral to apical (B-A) direction. Typically, CaCo2 cells are used in the permeability measurements during the ADME phase, which model the intestinal epithelium.]
adrenal cortex cancer	DOID_660
gyrate atrophy	DOID_1415
narcissistic personality disorder	DOID_2745	[A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.]
mitochondrial membrane potential assay	BAO_0002190