Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
fungal component	EFO_0000788
obsolete_severe combined immunodeficiency due to IKK2 deficiency	Orphanet_397787
obsolete_pulmonary venoocclusive disease	Orphanet_31837
metastatic pancreatic neuroendocrine tumours	EFO_0009140	[Pancreatic neuroendocrine tumors with metastases to other sites in the body, such as the liver.]
qualitative or quantitative defects of delta-sarcoglycan	MONDO_0016144
sarcoglycanopathy	MONDO_0016140	[Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.]
fgfr2 related craniosynostosis	EFO_0009141	[Craniosynostosis associated with FGFR2 (Fibroblast Growth Factor Receptor 2) gene.]
qualitative or quantitative defects of dysferlin	MONDO_0016145
autosomal dominant dilated cardiomyopathy	EFO_0009142	[Dilated cardiomyopathy, characterized by dilation and contractile dysfunction of the left and right ventricles, with an autosomal dominant pattern of inheritance.]
obsolete_mandibulofacial dysostosis	Orphanet_155899
ryr1-related disorders	EFO_0009143	[RYR-1-related diseases are conditions caused by changes (mutations) in the RYR-1 gene. RYR-1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. [ https://rarediseases.org/rare-diseases/ryr-1-related-diseases/ ]]
obsolete_congenital disorder of glycosylation-related bone disorder	Orphanet_371195
obsolete_otomandibular dysplasia	Orphanet_155896
qualitative or quantitative defects of alpha-sarcoglycan	MONDO_0016141
immunoglobulin isotype switching measurement	EFO_0010128	[Quantification of the switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin.]
qualitative or quantitative defects of beta-sarcoglycan	MONDO_0016142
Rhodobacter sphaeroides	NCBITaxon_1063
breakfast skipping measurement	EFO_0010129	[Quantification of the frequency which an individual omits to eat breakfast. Breakfast skipping is often considered as a sub-clinical eating disorder.]
eating behaviour	EFO_0007829	[Behaviors associated with the ingesting of food; includes rhythmic patterns of eating (time intervals - onset and duration), frequency and satiety as well as the types of food chosen]
eating disorder	EFO_0005203	[A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake., A group of disorders characterized by physiological and psychological disturbances in appetite or food intake.]