Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
8q21.11 microdeletion syndrome	Orphanet_284160	[8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.]
10p11.21p12.31 microdeletion syndrome	Orphanet_284169
selective IgA deficiency disease	EFO_1001929	[A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract., A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.]
obsolete_erythrokeratodermia variabilis	Orphanet_317
obsolete_Progressive symmetric erythrokeratodermia	Orphanet_316
Erythrokeratoderma "en cocardes"	Orphanet_315
obsolete_erythroderma desquamativum	Orphanet_314
obsolete_lamellar ichthyosis	Orphanet_313
obsolete_epidermolytic ichthyosis	Orphanet_312
idiopathic osteonecrosis of the femoral head	EFO_1001930	[Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis.]
Barrett adenocarcinoma	EFO_1001939	[An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002]
adult T acute lymphoblastic leukemia	EFO_1001936	[An acute T-lymphoblastic leukemia occurring in adults.]
adult acute lymphoblastic leukemia	MONDO_0003541	[An acute lymphoblastic leukemia occurring during adulthood.]
adult B acute lymphoblastic leukemia	EFO_1001935	[An acute B-lymphoblastic leukemia occurring in adults.]
childhood B acute lymphoblastic leukemia	EFO_1001946	[An acute B-lymphoblastic leukemia occurring in children.]
adult lymphoma	MONDO_0003660	[A lymphoma that occurs in an adult.]
adult acute myeloid leukemia	EFO_1001934	[An acute myeloid leukemia occurring in adults.]
adult acute monocytic leukemia	EFO_1001933	[A acute monocytic leukemia that occurs in an adult.]
adult acute megakaryoblastic leukemia	EFO_1001932	[An acute megakaryoblastic leukemia occurring in adults.]
obsolete_congenital factor XI deficiency	Orphanet_329