Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hypolipoproteinemia	MONDO_0001822	[Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).]
hypoalphalipoproteinemia	MONDO_0017773	[A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.]
Episodic hemiplegia	HP_0012194	[Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.]
anencephaly 1	MONDO_0008791	[Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.]
anencephaly	MONDO_0000819	[A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.]
neural tube closure defect	MONDO_0017059	[A disease that has its basis in the disruption of neural tube closure.]
Non-syndromic cerebral malformation due to abnormal neuronal migration	Orphanet_163209
Cerebral malformation with epilepsy	Orphanet_166478
Genetic cerebral malformation	Orphanet_269553
bone morphogenetic protein receptor type-2 measurement	EFO_0020189	[The determination of the amount of bone morphogenetic protein receptor type-2 in a sample]
Low Grade Fibromyxoid Sarcoma	EFO_1000328	[A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.]
fibrosarcoma	EFO_0002087	[A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.]
tumor grade 1, general grading system	MONDO_0024491	[A morphologic qualifier indicating that a cancerous lesion is well differentiated.]
bone morphogenetic protein 10 measurement	EFO_0020185	[The determination of the amount of bone morphogenetic protein 10 in a sample]
obsolete_retinal macular dystrophy type 2	Orphanet_319640
Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes	EFO_1000329	[A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.]
inherited lipid metabolism disorder	MONDO_0002525	[An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.]
bone morphogenetic protein 6 measurement	EFO_0020186	[The determination of the amount of bone morphogenetic protein 6 in a sample]
Lobular Breast Carcinoma In Situ	EFO_1000326	[A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.]
adenocarcinoma in situ	MONDO_0003218	[A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.]