Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_autosomal dominant spondylocostal dysostosis	Orphanet_1797
Hyaluronidase deficiency	Orphanet_67041
Rare disease with glaucoma as a major feature	Orphanet_98638
Rare genetic bone disease	Orphanet_183524
obsolete_paired fin skeleton	EFO_0000951	[Skeletal system that consists of the paired fins (pectoral or pelvic fins).]
obsolete_dysostosis, Stanescu type	Orphanet_1798
obsolete_late-onset retinal degeneration	Orphanet_67042
obsolete_peripheral dysostosis	Orphanet_1795
obsolete_dermis	EFO_0000953	[Dense irregular connective tissue which consists of a papillary layer and a reticular layer., A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales., The sensitive vascular inner mesodermic layer of the skin.]
obsolete_lysosomal acid lipase deficiency	Orphanet_275761
obsolete_bronchus	EFO_0000932	[Either of the two primary divisions of the trachea that lead respectively into the right and the left lung.]
Erdheim-Chester disease	EFO_1000926	[Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.]
granulomatous autoinflammatory syndrome	MONDO_0017955
non-Langerhans cell histiocytosis	MONDO_0015531	[Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).]
Histiocytic and Dendritic Cell Neoplasm	EFO_1000297	[Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)]
obsolete_gill	EFO_0000933	[Compound organ that consists of gill filaments, gill lamellae, gill rakers and pharyngeal arches 3-7. The gills are responsible for primary gas exchange between the blood and the surrounding water., A paired respiratory organ in fishes consisting of gill filaments on the gill arch in the posterior portion of the head and usually providing the primary exchange of gases between the blood and the surrounding water.]
obsolete_Erysipelothrix infectious disease	EFO_1000927	[Infections with bacteria of the genus ERYSIPELOTHRIX.]
obsolete_lung	EFO_0000934	[Lobular organ which has as its parts alveoli connected to the tracheobronchial tree. Examples: There are only two instances, right lung and left lung., One of the usually paired compound saccular thoracic organs that constitute the basic respiratory organ of air-breathing vertebrates.]
epilepsia partialis continua	EFO_1000924	[A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319), A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)]
epilepsy	EFO_0000474	[A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH)., A disorder characterized by recurrent seizures, A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.]