Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements	EFO_0010276	[An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life.]
O'Donnell-Luria-Rodan syndrome	EFO_0010277	[A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities.]
posterior wall thickness	EFO_0009288	[A quantitative measurement of the thickness or depth of the dorsal/posterior wall of the heart.]
thoracic aortic artery calcification	EFO_0010274	[Calcification of the thoracic aortic artery, used as an indicator of sub clinical athrosclerosis.]
Abnormality of the cardiovascular system	HP_0001626	[Any abnormality of the cardiovascular system.]
artery	UBERON_0001637	[An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition].]
left ventricular mass	EFO_0009289	[A quantitative measure calculated as the difference between the epicardium delimited volume and the left ventricular chamber volume]
abdominal aortic calcification measurement	EFO_0010272	[A quantification of the extent of calcification in the abdominal aorta.]
abdominal aortic artery calcification	EFO_0004859	[Calcification of the abdominal aortic artery, used as an indicator of sub clinical athrosclerosis]
abdominal aorta	UBERON_0001516	[Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted].]
thoracic aortic calcification measurement	EFO_0010273	[A quantification of the extent of calcification in the thoracic aorta.]
thoracic aorta	UBERON_0001515	[The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest.]
Menstrual disorder	EFO_0010270	[Category of disorders related to menstruation.]
ovarian disease	EFO_0005771	[A disease involving the ovary., A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors.]
bacterial pathogen genotype measurement	EFO_0010271	[A measurement of the genotype of a bacterial pathogen in an infected individual.]
obsolete_hidrotic ectodermal dysplasia, Halal type	Orphanet_1809
obsolete_focal facial dermal dysplasia type III	Orphanet_1807
obsolete_hidrotic ectodermal dysplasia, Christianson-Fourie type	Orphanet_1808
Ectodermal dysplasia - blindness	Orphanet_1806
Ectodermal malformation syndrome associated with ocular features	Orphanet_98709