Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
polysyndactyly-cardiac malformation syndrome	MONDO_0009900	[Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).]
10x sequencing protocol	EFO_0008443	[The standard protocol supplied by 10x Genomics for single cell nucleic acid sequencing]
X-13215-to-X-13671 ratio	EFO_0021408	[Quantification of the ratio of X-13215 to X-13671 in a sample.]
X-11315-to-pyroglutamine ratio	EFO_0021407	[Quantification of the ratio of X-11315 to pyroglutamine in a sample.]
obsolete_ST3GAL5-CDG	Orphanet_370933
obsolete_XYLT1-CDG	Orphanet_370930
obsolete_infantile axonal neuropathy	Orphanet_2679
urate-to-histidine ratio	EFO_0021409	[Quantification of the ratio of urate to histidine in a sample.]
Neurofibromatosis type 6	Orphanet_2678	[Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.]
glucose-to-mannose ratio	EFO_0021404	[Quantification of the ratio of glucose to mannose in a sample.]
obsolete_obesity due to prohormone convertase I deficiency	Orphanet_71528
carnitine-to-X-12798 ratio	EFO_0021403	[Quantification of the ratio of carnitine to X-12798 in a sample.]
magnesium:creatinine ratio measurement	EFO_0008449	[quantification of the ratio of magnesium to creatinine in a sample, typically a urine sample, a proxy measure for Mg2+ homeostasis]
obsolete_neuroectodermal-endocrine syndrome	Orphanet_2676
isoleucine-to-X-11529 ratio	EFO_0021406	[Quantification of the ratio of isoleucine to X-11529 in a sample.]
obsolete_obesity due to pro-opiomelanocortin deficiency	Orphanet_71526
X-11444-to-X-12844 ratio	EFO_0021405	[Quantification of the ratio of X-11444 to X-12844 in a sample.]
X-12712 measurement	EFO_0021323	[Quantification of the amount of X-12712 in a sample.]
X-12704 measurement	EFO_0021322	[Quantification of the amount of X-12704 in a sample.]
X-12719 measurement	EFO_0021325	[Quantification of the amount of X-12719 in a sample.]