Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Cardiovirus infectious disease	EFO_0007194	[Infections caused by viruses of the genus cardiovirus, family picornaviridae., A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus.]
Picornaviridae infectious disease	EFO_0007438	[A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses., Virus diseases caused by the picornaviridae.]
carbamoyl phosphate synthetase I deficiency disease	EFO_0007193	[An amino acid metabolic disorder that involves accumulation of ammonia in the blood., Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.]
obsolete_Alagille syndrome due to a JAG1 point mutation	Orphanet_261619
central nervous system tuberculosis	EFO_0007199	[An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord., A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.]
extrapulmonary tuberculosis	MONDO_0000368	[A tuberculosis that occurs at body sites other than the lung.]
pituitary hormone deficiency secondary to a granulomatous disease	MONDO_0019843
central nervous system AIDS arteritis	EFO_0007198	[Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections., A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.]
central nervous system vasculitis	MONDO_0003346	[Vasculitis affecting the blood vessels of the brain and/or spinal cord.]
cecal benign neoplasm	EFO_0007197	[An intestinal benign neoplasm that is located_in the cecum.]
Abnormality of the mitochondrion	HP_0012103	[An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.]
Abnormal cellular physiology	HP_0011017	[An abnormality in a cellular process.]
gelatinous drop-like corneal dystrophy	MONDO_0008777	[Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.]
lattice corneal dystrophy	MONDO_0004686
epithelial and subepithelial corneal dystrophy	MONDO_0000763
superficial corneal dystrophy	MONDO_0020212	[The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.]
Human echovirus 18	NCBITaxon_47506
obsolete_short rib-polydactyly syndrome	Orphanet_1505
2-aminoadipic 2-oxoadipic aciduria	MONDO_0008774
inborn disorder of lysine and hydroxylysine metabolism	MONDO_0017351