Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
pharyngeal pouch 1	UBERON_0007122	[A pharyngeal pouch that is between pharyngeal arches 1 and 2.]
pharyngeal pouch 2	UBERON_0007123	[A pharyngeal puch that is between the pharyngeal arches 2 and 3.]
obsolete_mild hyperphenylalaninemia	Orphanet_79651
pharyngeal pouch 5	UBERON_0007126	[A pharyngeal pouch between pharyngeal arches 5 and 6.]
pharyngeal pouch 6	UBERON_0007127	[A pharyngeal pouch between pharyngeal arches 6 and 7.]
Polysphondylium pallidum	NCBITaxon_13642
Blumeria graminis f. sp. tritici	NCBITaxon_62690	[Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat.]
neural keel	UBERON_0007135	[An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section.]
trunk ganglion	UBERON_0007134	[Ganglion which is located in the trunk.]
obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency	Orphanet_79643
obsolete_autosomal recessive hyperinsulinism due to Kir6.2 deficiency	Orphanet_79644
obsolete_COG4-CDG	Orphanet_263501	[Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.]
obsolete_distal arthrogryposis type 10	Orphanet_251515
obsolete_non-spherocytic hemolytic anemia due to hexokinase deficiency	Orphanet_90031
obsolete_hemolytic anemia due to glutathione reductase deficiency	Orphanet_90030
obsolete_hemoglobin D disease	Orphanet_90039
obsolete_glycoproteinosis	Orphanet_309279
obsolete_46,XY partial gonadal dysgenesis	Orphanet_251510	[46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.]
Absent epiphyses	HP_0010577
obsolete_COG1-CDG	Orphanet_263508	[Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism.]