Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_NARP syndrome	Orphanet_644	[Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.]
BSPP	EFO_0008667	[Bisulfite sequencing with padlock probes (BSPP)]
Pili torti - onychodysplasia	Orphanet_2890
obsolete_giant axonal neuropathy	Orphanet_643
BRIC-seq	EFO_0008660	[5’-Bromo-uridine immunoprecipitation chase (BRIC-Seq)]
obsolete_hereditary sensory and autonomic neuropathy type 4	Orphanet_642
Bru-Seq	EFO_0008661	[Bromouridine labeling and sequencing (Bru-seq) is a method for probing RNA synthesis by pulling down bromouridine residues in nascent transcripts followed by sequencing.]
BruChase-Seq	EFO_0008662	[Bromouridine pulse-chase and sequencing (BruChase-Seq)]
obsolete_hereditary neuropathy with liability to pressure palsies	Orphanet_640
BruDRB-seq	EFO_0008663	[BruDRB-seq— to reveal gene-specific differences in elongation rates]
Phosphoserine aminotransferase deficiency	Orphanet_284417	[Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.]
L-Pyroglutamic acid measurement	EFO_0021628	[Quantification of the amount of L-Pyroglutamic acid in a sample.]
L-Proline measurement	EFO_0021627	[Quantification of the amount of L-Proline in a sample.]
obsolete_brachyolmia-amelogenesis imperfecta syndrome	Orphanet_2899
L-Saccharopine measurement	EFO_0021629	[Quantification of the amount of L-Saccharopine in a sample.]
17alpha-ethynylestradiol	CHEBI_4903
X-linked intellectual disability - plagiocephaly	Orphanet_2898
L-Ornithine measurement	EFO_0021624	[Quantification of the amount of L-Ornithine in a sample.]
CAB-Seq	EFO_0008668	[Chemical modification-assisted bisulfite sequencing (CAB-Seq) for 5caC detection]
obsolete_pityriasis rubra pilaris	Orphanet_2897