Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Rett syndrome	Orphanet_778
X-linked non-syndromic intellectual disability	Orphanet_777
obsolete_X-linked intellectual disability with marfanoid habitus	Orphanet_776	[The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.]
X-linked intellectual disability, Martinez type	Orphanet_775
obsolete_hereditary hemorrhagic telangiectasia	Orphanet_774
Refsum disease	Orphanet_773	[Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases.]
Cataract associated with a metabolic disease	Orphanet_98644
obsolete_Infantile Refsum disease	Orphanet_772	[Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).]
uromodulin measurement	EFO_0021778	[Quantification of circulating uromodulin.]
serine:glycine ratio	EFO_0021777	[Quantification of the ratio of serine to glycine in plasma.]
D-Sucrose to 3-Indolepropionic acid ratio	EFO_0021774	[Quantification of the ratio of D-Sucrose to 3-Indolepropionic acid ratio in a sample.]
D-Malic acid to 3-Indolepropionic acid ratio	EFO_0021773	[Quantification of the ratio of D-Malic acid to 3-Indolepropionic acid ratio in a sample.]
osteopontin measurement	EFO_0021776	[Quantification of the amount of osteopontin protein in a sample]
3-Indolepropionic acid to Urocanic acid (RG) ratio	EFO_0021770	[Quantification of the ratio of 3-Indolepropionic acid to Urocanic acid (RG) ratio in a sample.]
3-Indolepropionic acid to Maltose ratio	EFO_0021772	[Quantification of the ratio of 3-Indolepropionic acid to Maltose ratio in a sample.]
Riboflavin to 3-Indolepropionic acid ratio	EFO_0021771	[Quantification of the ratio of Riboflavin to 3-Indolepropionic acid ratio in a sample.]
nimesulide	CHEBI_44445
obsolete_glucocorticoid resistance	Orphanet_786
obsolete_Rubinstein-Taybi syndrome	Orphanet_783	[Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.]
obsolete_Axenfeld-Rieger syndrome	Orphanet_782	[Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.]