Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Char syndrome	Orphanet_46627
brain hypoxia	EFO_1001766	[A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives.]
Bovine mastitis	EFO_1001765	[INFLAMMATION of the UDDER in cows.]
Birnaviridae Infections	EFO_1001764	[Virus diseases caused by the BIRNAVIRIDAE.]
basal cell neoplasm	EFO_1001763	[A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.]
autonomic dysreflexia	EFO_1001762	[A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)]
Angiofibroma	EFO_1001761	[A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)]
aneurysmal bone cyst	EFO_1001760	[Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures., A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.]
Macrostomia - preauricular tags - external ophthalmoplegia	Orphanet_83619
purine-containing compound biosynthetic process	GO_0072522	[ The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. ]
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	Orphanet_284324
obsolete_autosomal recessive secondary polycythemia not associated with VHL gene	Orphanet_247378
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis	Orphanet_83617
Lyme disease	EFO_0008510	[Lyme disease is an infectious disease caused by the bacteria Borrelia burgdorferi. The first symptom is usually a red rash, which may look like a bull's eye., Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.]
metopic craniosynostosis	EFO_0008511	[Metopic craniosynostosis is the early fusion of the forehead (frontal) bones. It accounts for 5%–15% of all craniosynostosis cases. This premature fusion of the frontal bones results in a characteristically altered skull shape, termed trigonocephaly, that usually requires surgical correction.]
micropapillary urothelial carcinoma	EFO_0008512	[An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003]
morphologic finding	EFO_0008513	[A light microscopic finding that describes the cellular characteristics and architectural patterns of cell populations in a tissue sample.]
polymyalgia rheumatica	EFO_0008518	[A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression., Polymyalgia rheumatica is a common inflammatory condition that often affects people over the age of 50 years. Characteristic symptoms are shoulder and hip girdle pain and prolonged morning stiffness. Markers of inflammation are often elevated.]
Failure to thrive	HP_0001508	[Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.]
Decreased body weight	HP_0004325	[Abnormally low body weight.]