Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
KIF1A related neurological disorder	MONDO_0700055	[KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A]
mitral valve stenosis	EFO_0007372	[Narrowing of the left atrioventricular mitral orifice., A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.]
Miller Fisher syndrome	EFO_0007371	[An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia., A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.]
autoimmune disorder of central nervous system	MONDO_0000568	[A hypersensitivity reaction type II disease that involves the central nervous system.]
regional variant of Guillain-Barre syndrome	MONDO_0016494
milker's nodule	EFO_0007370	[Virus diseases caused by the poxviridae., A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy.]
Cervical Wilms Tumor	EFO_1000173	[An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.]
cervical cancer	MONDO_0002974	[A primary or metastatic malignant neoplasm involving the cervix.]
Chondroid Chordoma	EFO_1000174	[A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.]
molluscum contagiosum	EFO_0007375	[A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed), A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.]
Cervical Small Cell Carcinoma	EFO_1000171	[A small cell carcinoma arising from the cervix.]
developing seed stage	PO_0004506	[Stage of seed development characterized by seed growth and differentiation.]
seed development stage	PO_0001170	[A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010).]
Decreased urinary potassium	HP_0012364	[A decreased concentration of potassium(1+) in the urine.]
Abnormal urine potassium concentration	HP_0012598	[An abnormal concentration of potassium(1+) in the urine.]
mixed connective tissue disease	EFO_0007374	[Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms., A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.]
overlapping connective tissue disease	MONDO_0016663
fertilized ovule stage	PO_0004505	[The earliest stage of seed development immediately following double fertilization.]
obsolete_partial deletion of chromosome 18	Orphanet_261836
mixed cell type cancer	EFO_0007373	[A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue.]