Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial periodic paralysis	MONDO_0000995	[A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.]
inborn mitochondrial myopathy	MONDO_0009637	[Myopathy caused by mitochondrial abnormalities.]
mitochondrial oxidative phosphorylation disorder	MONDO_0016387
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	MONDO_0018342	[Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.]
short rib-polydactyly syndrome	MONDO_0015461	[Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).]
Cerebral visual impairment	HP_0100704	[A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.]
Visual impairment	HP_0000505	[Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.]
Testicular Germ Cell Tumor	EFO_1000566	[A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.]
tumor of testis and paratestis	MONDO_0018191
neoplasm of testis	MONDO_0021348	[A neoplasm (disease) that involves the testis.]
gonadal germ cell tumor	MONDO_0018202
Testicular Granulosa Cell Tumor	EFO_1000567	[A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.]
testicular neoplasm	EFO_0004281	[Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms.]
Testicular Choriocarcinoma	EFO_1000564	[A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.]
testicular non-seminomatous germ cell cancer	MONDO_0003403	[A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.]
testicular trophoblastic tumor	MONDO_0002871	[A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.]
choriocarcinoma	EFO_0002893	[An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.]
Testicular Embryonal Carcinoma	EFO_1000565	[A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.]
embryonal neoplasm	EFO_0005784	[A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003]
testicular pure germ cell tumor	MONDO_0002874	[A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.]