Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Disorder of purine or pyrimidine metabolism	Orphanet_79224
blood coagulation disease	EFO_0009314	[A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood., A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. [ NCIt:C2902 ]]
hematologic disease	EFO_0005803	[A disease involving the hematopoietic system., Disorders of the blood and blood forming tissues.]
fourth ventricle volume measurement	EFO_0010303	[Quantification of the volume of the choroid plexus.]
corpus collosum mid-posterior volume measurement	EFO_0010300	[Quantification of the volume of the corpus collosum mid-posterior.]
corpus callosum posterior volume measurement	EFO_0010298	[Quantification of the volume of the corpus callosum posterior.]
thrombophilia	EFO_0009315	[A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. [ NCI ], A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.]
Disorder of pyrimidine metabolism	Orphanet_79193	[ANPM]
Macacine herpesvirus 3	NCBITaxon_47929
Virus	NCBITaxon_10239	[Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells.]
cuneus cortex volume measurement	EFO_0010301	[Quantification of the volume of the cuneus cortex.]
protein c deficiency	EFO_0009316	[Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots due to a deficiency of the Protein C, a protein in the body that prevents blood clotting. It may be inherited or acquired. [https://rarediseases.info.nih.gov/diseases/4521/protein-c-deficiency]]
Disorder of pyridoxine metabolism	Orphanet_79192
Disorder of biogenic amine metabolism and transport	Orphanet_79214
obsolete_10x v2	EFO_0009310	[10x v2 is the second version of the 10x sequencing technology.]
proprotein convertase subtilisin/kexin type 9 measurement	EFO_0009312	[Quantification of the amount of proprotein convertase subtilisin/kexin type 9 in plasma.]
obsolete_endometrium	EFO_0000980	[The mucous membrane lining the uterus.]
obsolete_ductus deferens	EFO_0000981
obsolete_epididymus	EFO_0000982	[A system of ductules emerging posteriorly from the testis that holds sperm during maturation and that forms a tangled mass before uniting into a single coiled duct which is continuous with the vas deferens.]
GM20431	EFO_0009317	[Lymphoblastoid cell line from B-lymphocyte of a Caucasian male as part of the Personal Genome Project.]