Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_congenital patella dislocation	Orphanet_295036
abnormal result of diagnostic imaging	EFO_0009827	[Abnormal result of a diagnostic imaging test.]
Ovarian Microcystic Stromal Tumor	EFO_1000424	[A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.]
benign ovarian sex cord-stromal tumor	MONDO_0024387	[A sex cord-stromal tumor arising from the ovary, without metastatic potential.]
Ovarian Granulosa Cell Tumor	EFO_1000421	[A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.]
obsolete_congenital knee dislocation	Orphanet_295034
vascular smooth muscle hypertrophy	EFO_0009829	[Increase in size or thickness of the smooth muscle of the vascular wall.]
Ovarian Gynandroblastoma	EFO_1000422	[A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both.]
obsolete_combined oxidative phosphorylation defect type 15	Orphanet_319524
achievement of target heart rate, self-reported	EFO_0009823	[Indication of whether a target heart rate was achieved by an individual, e.g. during a fitness test, as reported by the individual.]
Ovarian Gonadoblastoma	EFO_1000420	[A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.]
bringing up phlegm, sputum or mucus on most days, self-reported	EFO_0009824	[Indication of whether an individual brings up phlegm, sputum or mucus on most days, as reported by the individual.]
obsolete_patella aplasia/hypoplasia, unilateral	Orphanet_295038
sign or symptom concerning food and fluid intake	EFO_0009825	[A sign or symptom concerning the intake of food and/or fluids.]
abnormality of serum enzyme levels	EFO_0009826	[An abnormality in the levels of enzymes in serum.]
Abnormality of blood and blood-forming tissues	HP_0001871	[An abnormality of the hematopoietic system.]
Ovarian Sertoli-Leydig Cell Tumor	EFO_1000429	[A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.]
Ovarian Serous Adenocarcinofibroma	EFO_1000427	[A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns.]
single nucleus RNA sequencing	EFO_0009809	[Single nucleus RNA sequencing examines the sequence information from individual nuclei with optimized next generation sequencing (NGS) technologies. This allows the RNA-seq profiling of cell types that are more vulnerable to the tissue dissociation process, and that are therefore underrepresented in the final data set in single cell sequencing.]
nucleus	GO_0005634	[ A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. ]