Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
melorheostosis	MONDO_0007970	[Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.]
obsolete_mandible	EFO_0001965	[1: The lower jaw of a vertebrate animal.n2: Either the upper or lower part of the beak in birds.]
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant	MONDO_0032928
obsolete_male accessory gland	EFO_0001964
Gray	UO_0000134	[An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter.]
negative regulation of inflammatory response	GO_0050728	[Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.]
obsolete_superior cervical ganglion	EFO_0001945	[The uppermost ganglion on the sympathetic trunk, lying behind the internal carotid artery and in front of the second and third cervical vertebrae; it gives rise to postganglionic fibers to the heart via cervical cardiac nerves, to the pharyngeal plexus and thence to the larynx and pharynx, and to the head via the external and internal carotid plexuses.]
contractures, pterygia, and variable skeletal fusions syndrome	MONDO_0020937
obsolete_superior temporal gyrus	EFO_0001944
obsolete_shoot apex	EFO_0001947	[The terminal bud (0.1 - 1.0 mm) of a plant, which consists of the apical meristem (0.05 - 0.1 mm) and the immediate surrounding leaf primordia and developing leaves and adjacent stem tissue.]
neonatal Marfan syndrome	MONDO_0017309	[Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.]
obsolete_soleus muscle	EFO_0001946	[A broad flat muscle of the calf of the leg lying immediately below the gastrocnemius.]
obsolete_muscle	EFO_0001949	[A body tissue consisting of long cells that contract when stimulated and produce motion.]
pericardial and diaphragmatic defect	MONDO_0017301	[Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.]
qualitative or quantitative defects of troponin	MONDO_0017302
Halobacterium salinarum	NCBITaxon_2242
long QT syndrome 16	MONDO_0032915
Imagawa-Matsumoto syndrome	MONDO_0032916
congenital heart defects, multiple types, 7	MONDO_0032913
ciliary dyskinesia, primary, 44	MONDO_0032914