Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
dodecanoate	CHEBI_18262	[A medium-chain fatty acid anion that is the conjugate base of dodecanoic acid (lauric acid); major species at pH 7.3.]
N-carbamoyl-beta-alanine	CHEBI_18261	[A beta-alanine derivative that is propionic acid bearing a ureido group at position 3.]
epidermal growth factor receptor substrate 15-like 1 measurement	EFO_0020360	[The determination of the amount of epidermal growth factor receptor substrate 15-like 1 in a sample]
neuroschistosomiasis	EFO_0007394	[A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure., Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)]
schistosomiasis	EFO_1001475	[An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic., Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States.]
neuroaspergillosis	EFO_0007393	[An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion., Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)]
nervous system cancer	EFO_0007392	[A primary or metastatic malignant neoplasm involving the nervous system.]
mosaic trisomy 13	MONDO_0700034	[Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.]
intestinal neuroendocrine tumor G1	MONDO_0021533	[A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.]
obsolete_dysosteosclerosis	Orphanet_1782
Acute bronchitis	HP_0012388	[Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.]
ocular onchocerciasis	EFO_0007398	[Onchocerciasis affecting the eye., A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness.]
parasitic eye infection	MONDO_0020947	[Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.]
Colorectal Serrated Adenocarcinoma	EFO_1000196	[A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.]
obsolete_partial deletion of chromosome 11	Orphanet_261816
nocardiosis	EFO_0007397	[An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy., Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.]
opportunistic bacterial infectious disease	MONDO_0000316
Colorectal Hamartoma	EFO_1000193	[A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.]
polyp of large intestine	MONDO_0021392	[A polyp that involves the large intestine.]
mosaic trisomy 18	MONDO_0700031	[Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.]