Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Mood swings	HP_0000720	[An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.]
Widened subarachnoid space	HP_0012704	[An increase in size of the anatomic space between the arachnoid membrane and pia mater.]
GM17773	CLO_0016645	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17770	CLO_0016647	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17771	CLO_0016646	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17769	CLO_0016648	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
peroxisome biogenesis disorder due to PEX6 defect	MONDO_0100263	[Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.]
peroxisome biogenesis disorder due to PEX10 defect	MONDO_0100264	[Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.]
Dementia	HP_0000726	[A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.]
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain	MONDO_0100265	[Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.]
peroxisome biogenesis disorder due to PEX12 defect	MONDO_0100266	[Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.]
GM17774	CLO_0016641	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17780	CLO_0016643	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17782	CLO_0016642	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Psychotic episodes	HP_0000725
obsolete Heimler syndrome	MONDO_0100229	[OBSOLETE. A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes.]
adenine	CHEBI_16708	[The parent compound of the 6-aminopurines, composed of a purine having an amino group at C-6.]
GM17177	CLO_0014037	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
GM17176	CLO_0014039	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
circulatory system	UBERON_0001009	[Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP].]