Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
retinitis pigmentosa and erythrocytic microcytosis	MONDO_0014850
prenatal-onset spinal muscular atrophy with congenital bone fractures	MONDO_0000209
Pilonidal sinus	HP_0010769	[A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.]
myoblast cell line	BTO_0000256	[Cell lines derived from myoblast cells]
myoblast	CL_0000056	[A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair.]
parasitic skin disorder	MONDO_0024610	[Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.]
hypercalcemia, infantile	MONDO_0000212	[A hypercalcemia disease that occurs between 28 days to one year of life..]
striatal degeneration, autosomal dominant	MONDO_0000211	[An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.]
striatonigral degeneration	MONDO_0003122	[A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.]
cervical adenosarcoma	MONDO_0002876	[A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.]
thiopurine metabolic disease	MONDO_0000210
cervical carcinosarcoma	MONDO_0002877	[A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.]
uterine corpus adenosarcoma	MONDO_0002878	[A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.]
retinal detachment	EFO_0005773	[Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness., An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.]
villitis	EFO_0003110	[Inflammatory process that involves the chorionic villi (villitis) of the placenta.]
obsolete_late infantile neuronal ceroid lipofuscinosis	EFO_0003112	[Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life.]
hypermanganesemia with dystonia	MONDO_0000214
obsolete_neuronal ceroid lipofuscinosis	EFO_0003111	[A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.]
Short thumb	HP_0009778	[Hypoplasia (congenital reduction in size) of the thumb.]
obsolete_pauciarticular juvenile rheumatoid arthritis	EFO_0003114