Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_sarcoidosis	EFO_0000690	[An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands., An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.]
Bardet-Biedl syndrome 5	EFO_0009025	[BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).]
CEL-seq2	EFO_0010010	[A modified version of CEL-Seq with higher sensitivity.]
Bardet-Biedl syndrome 7	EFO_0009026	[BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, intellectual disability, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.]
HiChIP	EFO_0010011	[A protein-centric chromatin conformation method (HiChIP)]
obsolete_schizophrenia	EFO_0000692	[A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior., A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.]
schwannoma	EFO_0000693	[A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH)., A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported., A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported., A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5), A tumor of the peripheral nervous system composed of neoplastic Schwann cells. The vast majority of schwannomas follow a benign clinical course. Only rare cases associated with a malignant clinical course have been reported.]
obsolete_congenital tracheal stenosis	Orphanet_141127
severe acute respiratory syndrome	EFO_0000694	[A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death., Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia., A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent., A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia., A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV)., A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.]
obsolete_sex	EFO_0000695
obsolete_hereditary dentin defect	Orphanet_167759
shear stressing	EFO_0000696	[A process whereby a stress state is applied parallel or tangential to a face of the material.]
obsolete_sialidosis	Orphanet_309294
obsolete_sickle cell disease	EFO_0000697	[A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.]
urothelial papilloma	MONDO_0004041	[A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium.]
urinary tract non-invasive transitional cell neoplasm	MONDO_0003755
papillary urothelial neoplasm	MONDO_0003443	[A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003]
transitional cell papilloma	EFO_0006497	[A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.]
Sjogren syndrome	EFO_0000699	[Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis., An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain, An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus., An autoimmune disease that results_from attack of immune cells which destroy the exocrine glands that produce tears and saliva.]
autoimmune disorder of exocrine system	MONDO_0000586	[A hypersensitivity reaction type II disease that involves the exocrine system.]