Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
ND01737	CLO_0016362	[PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE]
obsolete_experimental design	EFO_0000485	[experimental design refers to both observational and experimental (perturbational) studies. The organizing principles of the study including the relationships between assays and the steps taken to interpret the data.]
obsolete_multicentric osteolysis-nodulosis-arthropathy spectrum	Orphanet_371428
exposure	EFO_0000487	[The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke]
external control ratio	EFO_0000488	[Use of spiked in controls in a measurement of the spiked in external/internal ratio]
obsolete_Hypermethioninemia due to glycine N-methyltransferase deficiency	Orphanet_289891
visceral tracheal branch primordium	FBbt_00017003	[Tracheal primordium that develops into the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut.]
primary segmental tracheal branch primordium	FBbt_00017011	[Primordium that develops into a primary trachea.]
amnioserosa primordium	FBbt_00017000	[Primordium of the amnioserosa in the early extended germ band embryo.]
nicotine	CHEBI_18723	[A pyrrolidine alkaloid that has formula C10H14N2.]
cotinine N-oxide	CHEBI_89087	[An N-alkylpyrrolidine that is nicotine in which the methylene hydrogens at position 2 on the pyrrolidine ring have been replaced by an oxo group and the pyridine nitrogen converted to the corresponding N-oxide. A minor metabolite of nicotine.]
olanzapine	CHEBI_7735	[A benzodiazepine that has formula C17H20N4S.]
ND01173	CLO_0028397	[PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES]
tracheal dorsal trunk primordium	FBbt_00017010	[Region of the tracheal primordium that gives rise to the embryonic/larval dorsal trunk.]
cardioectodermal syndrome	MONDO_0100080	[Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.]
ring gland primordium	FBbt_00017009	[.]
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	MONDO_0100083	[This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.]
hereditary thrombocytopenia and hematologic cancer predisposition syndrome	MONDO_0011071	[The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.]
alpha-actinopathy	MONDO_0100084	[A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.]
familial Alzheimer disease	MONDO_0100087	[A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.]