Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Decreased activity of the pyruvate dehydrogenase complex	HP_0002928
Abnormality of mitochondrial metabolism	HP_0003287	[A functional anomaly of mitochondria.]
Korean	HANCESTRO_0022
South Korea	South_Korea
laryngeal tuberculosis	EFO_0007337	[Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare., A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.]
laryngitis	MONDO_0002647	[An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.]
Dandy-Walker malformation - postaxial polydactyly	Orphanet_1566	[Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.]
G&T-Seq	EFO_0009999	[G&T-Seq can separate and sequence genomic DNA and full-length mRNA from single cells]
Han Chinese	HANCESTRO_0027
DNAj homolog subfamily b member 1 measurement	EFO_0020332	[The determination of the amount of DNAj homolog subfamily b member 1 in a sample]
drebrin-like protein measurement	EFO_0020333	[The determination of the amount of drebrin-like protein in a sample]
dual 3',5'-cyclic-amp and -gmp phosphodiesterase 11a measurement	EFO_0020334	[The determination of the amount of dual 3',5'-cyclic-amp and -gmp phosphodiesterase 11a in a sample]
obsolete_familial nonmedullary thyroid carcinoma	Orphanet_319494
dual specificity mitogen-activated protein kinase kinase 1 measurement	EFO_0020335	[The determination of the amount of dual specificity mitogen-activated protein kinase kinase 1 in a sample]
obsolete_familial multiple lipomatosis	Orphanet_199276
DNA repair protein rad51 homolog 1 measurement	EFO_0020330	[The determination of the amount of DNA repair protein rad51 homolog 1 in a sample]
DNA topoisomerase 1 measurement	EFO_0020331	[The determination of the amount of DNA topoisomerase 1 in a sample]
obsolete_familial angiolipomatosis	Orphanet_199279
maxillary sinusitis	EFO_0007361	[An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus., A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.]
maxillary neoplasm	EFO_0007360	[Cancer or tumors of the maxilla or upper jaw.]