Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
phosphatidylcholine 40:6 measurement	EFO_0010389	[The quantification of phosphatidylcholine 40:6 levels in a sample.]
ITM2B amyloidosis	MONDO_0018591
hereditary amyloidosis	MONDO_0018634	[Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.]
inherited neurodegenerative disorder	MONDO_0024237	[An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.]
dementia	MONDO_0001627	[Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.]
apical ectodermal ridge dorsal fin	UBERON_2000090	[Apical ectodermal ridge that is part of the dorsal fin.]
ectoderm	UBERON_0000924	[Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue.]
hippocampus molecular layer volume	EFO_0009397	[Volume of hippocampus molecular layer.]
phosphatidylcholine 38:4 measurement	EFO_0010386	[The quantification of phosphatidylcholine 38:4 levels in a sample.]
phosphatidylcholine 38:5 measurement	EFO_0010387	[The quantification of phosphatidylcholine 38:5 levels in a sample.]
hippocampal tail volume	EFO_0009398	[Volume of hippocampal tail.]
subiculum volume	EFO_0009399	[Volume of subiculum region in hippocampus.]
phosphatidylcholine 38:2 measurement	EFO_0010384	[The quantification of phosphatidylcholine 38:2 levels in a sample.]
phosphatidylcholine 38:3 measurement	EFO_0010385	[The quantification of phosphatidylcholine 38:3 levels in a sample.]
phosphatidylcholine 36:4 measurement	EFO_0010382	[The quantification of phosphatidylcholine 36:4 levels in a sample.]
phosphatidylcholine 36:5 measurement	EFO_0010383	[The quantification of phosphatidylcholine 36:5 levels in a sample.]
cardinal system	UBERON_2000096
vasculature	UBERON_0002049	[An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face.]
cardiovascular system	UBERON_0004535	[Anatomical system that has as its parts the heart and blood vessels.]
phosphatidylcholine 36:2 measurement	EFO_0010380	[The quantification of phosphatidylcholine 36:2 levels in a sample.]