Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
heart position anomaly	MONDO_0020284
retinal edema	MONDO_0004037
polycystic ovary syndrome	EFO_0000660	[A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading., A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.]
obsolete_polymorphonuclear leukocyte	EFO_0000661	[Any fully developed granular leukocyte whose nucleus contains multiple lobes joined by filamentous connections, especially a neutrophil., A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin., A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Cells are also differentiated from other granulocytes by a small nuclear-to-cytoplasm ratio (1:3). This cell type is CD49d-positive.]
familial ovarian carcinoma	MONDO_0004033	[Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.]
pool	EFO_0000663	[A mix of specimens from multiple individuals.]
obsolete_porphyria	EFO_0000665	[A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.]
portal hypertension	EFO_0000666	[Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS., Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN., Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.]
benign neonatal seizures	MONDO_0016027	[A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.]
neonatal period electroclinical syndrome	MONDO_0000412	[An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.]
erythromelalgia	MONDO_0016028	[A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.]
acquired Creutzfeldt-Jakob disease	MONDO_0018686	[An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.]
Aymé-Gripp syndrome	EFO_0009020	[Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).]
shoulder and thorax deformity-congenital heart disease syndrome	MONDO_0016024
Bardet-Biedl syndrome 1	EFO_0009021	[Bardet-Biedl syndrome 1 is caused by mutation in a gene on chromosome 11q13.]
Bardet-Biedl syndrome	MONDO_0015229	[A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems]
myoclonic-astastic epilepsy	MONDO_0016025	[Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.]
Bardet-Biedl syndrome 10	EFO_0009022	[BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009).]
pVAC-Seq	EFO_0010009	[A genome-guided in silico approach to identifying tumor neoantigens (pVAC-Seq)]
frontal encephalocele	MONDO_0016020