Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
vasoactive peptide measurement	EFO_0005196	[quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease]
renal transplant outcome measurement	EFO_0005199	[quantification of the outcome of a kidney transplant]
Salmonella enterica subsp. enterica serovar Oranienburg	NCBITaxon_28147
Nuphar advena	NCBITaxon_77108
substantia nigra	UBERON_0002038	[Predominantly gray matter midbrain structure lying dorsal to the crus cerebri and ventral to the midbrain tegmentum. It is divided into a dorsal, cellularly compact region known as the pars compacta and a more ventrally located, containing more loosely packed cells, the pars reticulata. The most lateral region of the reticulata is identified as the pars lateralis (MM).]
suprachiasmatic nucleus	UBERON_0002034	[* An ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm. (MSH) * small group of nerve cell bodies in the supraoptic region of the hypothalamus, just above the optic chiasm; influences rhythmic aspects of hypothalamic functions in many vertebrate species. (CSP).]
hypothalamus	UBERON_0001898	[A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia].]
preoptic area	UBERON_0001928	[Area of the forebrain between the anterior commissure and optic chiasm.]
Gallbladder dysfunction	HP_0005609
Accelerated skeletal maturation	HP_0005616	[An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.]
Aplasia/hypoplasia of the femur	HP_0005613	[Absence or underdevelopment of the femur.]
dorsal raphe nucleus	UBERON_0002043	[A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted].]
Callipepla californica	NCBITaxon_67771
obsolete_C syndrome	Orphanet_1308	[C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.]
Escherichia coli UTI89	NCBITaxon_364106
obsolete_medullary sponge kidney	Orphanet_1309
Proximal spinal muscular atrophy type 4	Orphanet_83420
obsolete_Buschke-Ollendorff syndrome	Orphanet_1306
obsolete_Distal limb deficiencies - micrognathia syndrome	Orphanet_1307	[The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.]
obsolete_Feingold syndrome	Orphanet_1305	[Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.]