Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
anogenital venereal wart	EFO_0007147	[A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia., A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.]
viral sexually transmitted disease	MONDO_0021682	[Viral diseases which are potentially transmitted or propagated by sexual conduct.]
human papilloma virus infection	EFO_0001668	[A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact., An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.]
neurotrophin-3 measurement	EFO_0010791	[Quantification of the amount of neurotrophin-3 in a sample]
achondrogenesis type IA	MONDO_0008701	[Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.]
severe spondylodysplastic dysplasia	MONDO_0800080	[An instance of spondylodysplastic dysplasia that has a high degree of severity.]
oncostatin-M measurement	EFO_0010792	[Quantification of the amount of oncostatin-M in a sample]
anisakiasis	EFO_0007146	[Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum., A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.]
Ascaridida infectious disease	EFO_0007156	[Infections with nematodes of the order ascaridida., A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end.]
intestinal helminthiasis	MONDO_0024271	[A parasitic helminthiasis infectious disease that involves the intestine.]
obsolete_cranioectodermal dysplasia	Orphanet_1515
acheiropody	MONDO_0008700	[Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.]
14-3-3 protein family measurement	EFO_0020109	[The determination of the amount of 14-3-3 protein family in a sample]
obsolete_craniofacial dyssynostosis	Orphanet_1516
monocyte chemotactic protein-4 measurement	EFO_0010790	[Quantification of the amount of monocyte chemotactic protein-2 in a sample]
obsolete_craniodiaphyseal dysplasia	Orphanet_1513
Craniodigital syndrome - intellectual disability	Orphanet_1514
trunk bone mineral density	EFO_0020105	[Mineral density of the trunk.]
obsolete_Crane-Heise syndrome	Orphanet_1512	[Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.]
cytomegalovirus virus reactivation	EFO_0020106	[The switching of latent cytomegalovirus to a lytic infection.]