Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17241	CLO_0014411	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
Hypotrichosis with juvenile macular degeneration	Orphanet_1573	[Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.]
mesoblastic nephroma	EFO_0007365	[A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult., A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life.]
kidney cancer	MONDO_0002367	[Primary or metastatic malignant neoplasm involving the kidney.]
GM17242	CLO_0014412	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
Retinal degeneration - nanophthalmos - glaucoma	Orphanet_1574
meningoencephalitis	EFO_0007364	[Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan., A central nervous system disease that involves encephalitis which occurs along with meningitis.]
encephalitis	MONDO_0019956	[An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.]
GM17243	CLO_0014413	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete_Knobloch syndrome	Orphanet_1571
meibomian cyst	EFO_0007363	[An eyelid cyst caused by the blockage of a meibomian gland., A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid.]
internal hordeolum	MONDO_0004917	[A hordeolum that results from infection of a meibomian gland.]
GM17244	CLO_0014414	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
obsolete_common variable immunodeficiency	Orphanet_1572
GM17245	CLO_0014415	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
milk allergic reaction	EFO_0007369	[A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual., Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase.]
GM17246	CLO_0014416	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete_symbrachydactyly of hands and feet	Orphanet_1570
miliary tuberculosis	EFO_0007368	[I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma., An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.]
GM17247	CLO_0014417	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]