Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Mitral regurgitation	HP_0001653	[An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.]
Abnormal mitral valve physiology	HP_0031481	[Any functional anomaly of the mitral valve.]
Patent foramen ovale	HP_0001655	[Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.]
L-Aspartic acid measurement	EFO_0021611	[Quantification of the amount of L-Aspartic acid in a sample.]
all-cis-octadeca-6,9,12,15-tetraenoic acid	CHEBI_32389	[An octadecatetraenoic acid having four double bonds located at positions 6, 9, 12 and 15 (the all-cis-isomer). It has been isolated from Lithospermum officinale and fish oils.]
L-Asparagine anhydrous measurement	EFO_0021610	[Quantification of the amount of L-Asparagine anhydrous in a sample.]
(+)-catechin monohydrate	CHEBI_58994	["The monohydrate of (+)-catechin." []]
alpha-linolenate	CHEBI_32387	[A linolenate that is the conjugate base of alpha-linolenic acid, arising from deprotonation of the carboxylic acid group.]
Dextrocardia	HP_0001651	[The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.]
obsolete_short stature due to growth hormone qualitative anomaly	Orphanet_629
Diastrophic dwarfism	Orphanet_628
obsolete_Nance-Horan syndrome	Orphanet_627
obsolete_large congenital melanocytic nevus	Orphanet_626
3’NT method	EFO_0008642	[3’ End of nascent transcripts (3’NT)]
obsolete_familial multiple nevi flammei	Orphanet_624
3′-Seq	EFO_0008643	[3’-Seq to detect 3’ UTR isoforms]
3P-Seq	EFO_0008644	[Poly(A)-position profiling by sequencing (3P-Seq)]
obsolete_homocystinuria without methylmalonic aciduria	Orphanet_622
3-Seq	EFO_0008645	[3’-end sequencing for expression quantification (3SEQ) from FFPE samples]
obsolete_hereditary methemoglobinemia	Orphanet_621