Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Autosomal recessive malignant osteopetrosis	Orphanet_667
CIP-TAP	EFO_0008688	[CIP-TAP for identifying capped small RNA (csRNA) species]
obsolete_osteogenesis imperfecta	Orphanet_666
Circle-Seq	EFO_0008689	[Extrachromosomal circular DNA sequencing (Circle-Seq)]
Albright hereditary osteodystrophy	Orphanet_665	[Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay.]
ChEC-seq	EFO_0008682	[Chromatin endogenous cleavage]
obsolete_Ornithine transcarbamylase deficiency	Orphanet_664	[Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders.]
Chem-Seq	EFO_0008683	[Chem-seq: to identify the sites bound by small chemical molecules]
obsolete_maternally-inherited progressive external ophthalmoplegia	Orphanet_663
Chia-PET	EFO_0008684	[ChIA-PET (chromatin interaction analysis by paired-end tag sequencing) is a type of chromosome conformation capture assay that uses chromatin immunoprecipitation to enrich for protein-specific chromatin complexes after digestion, followed by nuclear proximity ligation and high-throughput paired-end-tag sequencing.]
ChIP-BS-seq	EFO_0008685	[Bisulfite-treated chromatin immunoprecipitated DNA (ChIP-BS-seq), to correlate protein modifications with DNA methylation]
Ondine syndrome	Orphanet_661
Lactobacillus paralimentarius	NCBITaxon_83526
Congenital hypothyroidism due to developmental anomaly	Orphanet_95711	[Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.]
Maltose measurement	EFO_0021649	[Quantification of the amount of Maltose in a sample.]
renal branch of vagus nerve	FMA_6670
obsolete_thyroid ectopia	Orphanet_95712
obsolete_athyreosis	Orphanet_95713
Primary congenital hypothyroidism without thyroid developmental anomaly	Orphanet_95714	[Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.]
LysoPE 14:0 measurement	EFO_0021646	[Quantification of the amount of LysoPE 14:0 in a sample.]