Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Urocanic acid (RG) measurement	EFO_0021676	[Quantification of the amount of Urocanic acid (RG) in a sample.]
Taurocholic acid sodium salt hydrate measurement	EFO_0021671	[Quantification of the amount of Taurocholic acid sodium salt hydrate in a sample.]
Taurochenodesoxycholic acid measurement	EFO_0021670	[Quantification of the amount of Taurochenodesoxycholic acid in a sample.]
obsolete_acute neonatal citrullinemia type I	Orphanet_247546
obsolete_Theobromine measurement	EFO_0021673	[Quantification of the amount of Theobromine in a sample.]
Tauroursodeoxycholic acid measurement	EFO_0021672	[Quantification of the amount of Tauroursodeoxycholic acid in a sample.]
obsolete_monostotic fibrous dysplasia	Orphanet_93277
obsolete_polyostotic fibrous dysplasia	Orphanet_93276
obsolete_thanatophoric dysplasia type 2	Orphanet_93274
Short rib-polydactyly syndrome, Verma-Naumoff type	Orphanet_93271
osteogenesis imperfecta type 3	MONDO_0009804	[Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).]
congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	MONDO_0009803	[Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.]
familial osteodysplasia, Anderson type	MONDO_0009801	[Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.]
obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	Orphanet_93279
Decreased urine output	HP_0011037	[A decreased rate of urine production.]
Sarcosine measurement	EFO_0021668	[Quantification of the amount of Sarcosine in a sample.]
S-Sulfo-L-cysteine measurement	EFO_0021667	[Quantification of the amount of S-Sulfo-L-cysteine in a sample.]
Succinic acid measurement	EFO_0021669	[Quantification of the amount of Succinic acid in a sample.]
obsolete_autosomal dominant secondary polycythemia	Orphanet_247511
obsolete_spondyloepiphyseal dysplasia tarda	Orphanet_93284