Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Iranian	HANCESTRO_0438
Greater Middle Eastern (Middle Eastern, North African or Persian)	HANCESTRO_0015	[Includes individuals who self-report or were described by authors as Middle Eastern, North African, Persian or one of the subpopulations from this region (e.g. Saudi Arabian). We note there is heterogeneity in this category with different degrees of admixture as well as levels of genetic isolation. We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap.]
Iran	Iran
Koolen-de Vries syndrome due to a point mutation	MONDO_0018217
Koolen-de Vries syndrome	MONDO_0012496	[A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.]
Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome	MONDO_0018216
partial deletion of the long arm of chromosome 17	MONDO_0016915
autosomal recessive cerebral atrophy	MONDO_0018218
cardiac arrest	EFO_0009492	[Cessation of breathing and/or cardiac function.]
hereditary sensory and autonomic neuropathy type 1	MONDO_0018213	[Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.]
paroxysmal tachycardia	EFO_0009493	[A form of tachycardia which begins and ends in an acute (or paroxysmal) manner.]
familial cervical artery dissection	MONDO_0018212	[An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.]
genetic central nervous system and retinal vascular disease	MONDO_0015953
cervical artery dissection	EFO_1000059	[A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery., a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.]
C1 100080002	EFO_0009494	[Cell line from olfactory neurosphere cells from a 59-year-old human male.]
olfactory neurosphere cell line	EFO_0005705	[Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin.]
paraneoplastic neurologic syndrome	MONDO_0018215	[A paraneoplastic syndrome that involves the nervous system.]
paraneoplastic syndrome	MONDO_0021073	[A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.]
C1 100080003	EFO_0009495	[Cell line from olfactory neurosphere cells from a 66-year-old human female.]
generalized epilepsy with febrile seizures plus	MONDO_0018214	[A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).]