Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
urethral neoplasm	EFO_0003846	[A neoplasm (disease) that involves the urethra., Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males.]
epithelium of pancreatic duct	UBERON_0009970	[An epithelium that is part of a pancreatic duct.]
pancreactic component	EFO_0003861
pancreatic duct	UBERON_0007329	[A duct that collects and carries secretions of the exocrine pancreas to the intestine.]
cone-rod dystrophy and hearing loss	EFO_0009151	[Inherited ocular disorder, characterised by the loss of cone cells, and hearing loss.]
intellectual disability, autosomal dominant 52	EFO_0009152	[Grozeva et al. (2014) reported 7 unrelated boys with moderate to severe intellectual disability. All showed delayed psychomotor development in infancy and poor speech development, but all were able to talk and communicate their needs. Five of the 7 had behavioral abnormalities, including obsessive-compulsive behavior, hand-flapping, and features of autism. Older children attended special schools or had educational support. Dysmorphic features were highly variable without a consistent pattern. However, features observed in 3 or more affected patients included synophrys or eyebrow anomalies, brachycephaly, low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Several patients had chewing difficulties or dribbling. Variable skeletal abnormalities, such as scoliosis, kyphosis, lordosis, and leg-length discrepancies were also reported. None had seizures, microcephaly, or growth retardation.]
lymphedema, hereditary, iii	EFO_0009153	[Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).]
acquired amyloid peripheral neuropathy	MONDO_0016179
hemophilia b leyden	EFO_0009154	[Hemophilia B Leyden is an X chromosome-linked bleeding disorder characterized by an altered developmental expression of blood coagulation factor IX. This form of hemophilia B has been found to be associated with a variety of single point mutations in the factor IX promoter region.]
fish consumption measurement	EFO_0010139	[Quantification of some fish consumption or fish consumption-related behaviour, usually self-reported via a questionnaire.]
cholestasis, intrahepatic, of pregnancy 3	EFO_0009150	[Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by Pasmant et al., 2012).]
genetic biliary tract disease	MONDO_0015509	[Genetic biliary tract disease.]
combined oxidative phosphorylation deficiency 33	EFO_0009159	[combined oxidative phosphorylation deficiency 33 (COXPD33) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).]
pepsinogen-I measurement	EFO_0010148	[Quantification of the amount of pepsinogen-I in a sample]
pepsinogen I/II ratio	EFO_0010149	[Quantification of the ratio of pepsinogen I to pepsinogen II in a sample]
chronic polyradiculoneuropathy	MONDO_0016170	[Chronic form of polyradiculoneuropathy.]
chronic polyneuropathy	MONDO_0003335	[Polyneuropathy that is persistent or long-standing in nature.]
parietal lobe	UBERON_0001872	[Upper central part of the cerebral hemisphere. (MSH).]
pantothenate	CHEBI_16454	[A monocarboxylic acid anion that is the conjugate base of pantothenic acid, obtained by deprotonation of the carboxy group.]
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	EFO_0009155	[Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (GRIDHH) is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).]