Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hypercontractile muscle stiffness syndrome	MONDO_0018779
alpha-crystallinopathy	MONDO_0020343
demyelinating hereditary motor and sensory neuropathy	MONDO_0018776
bulbospinal muscular atrophy of childhood	MONDO_0016114	[A bulbospinal muscular atrophy that occurs during childhood.]
axonal hereditary motor and sensory neuropathy	MONDO_0018775
Jeune syndrome	MONDO_0018770	[Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.]
nephropathy-associated ciliopathy	MONDO_0022409
obsolete_periodic paralysis with later-onset distal motor neuropathy	Orphanet_397750
Joubert syndrome	MONDO_0018772	[Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.]
posterior lateral plate mesoderm	UBERON_0009910
congenital anomaly of ventricular septum	MONDO_0018771	[A congenital heart malformation that involves the interventricular septum.]
normocytic anemia	MONDO_0004139	[Anemia in which the red blood cell volume is normal.]
obsolete_normal	EFO_0000761
hepatocellular adenoma	EFO_0000762	[A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.]
liver and intrahepatic bile duct neoplasm	MONDO_0024477	[A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.]
Lentivirus Infections	EFO_1001357	[Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.]
AIDS	EFO_0000765	[A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood., A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin&apos;s lymphoma and Kaposi&apos;s sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood., Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse., A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004, An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse., An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993., A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS., A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.]
obsolete_hereditary leiomyomatosis and renal cell cancer	EFO_0000766
obsolete_plant component	EFO_0000789
norepinephrine secretion, neurotransmission	GO_0061533	[The regulated release of norepinephrine by a cell, in which the norepinephrine acts as a neurotransmitter.]