Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
interleukin 7 measurement	EFO_0008189	[quantification of the amount of interleukin 7 in a sample]
Ellis Van Creveld syndrome	Orphanet_289
obsolete_hereditary elliptocytosis	Orphanet_288
obsolete_Ehlers-Danlos syndrome, classic type	Orphanet_287	[Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.]
obsolete_Ehlers-Danlos syndrome, vascular type	Orphanet_286
obsolete_Ehlers-Danlos syndrome, hypermobility type	Orphanet_285	[Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.]
exostoses, multiple, type 2	MONDO_0007586	[This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.]
hereditary multiple osteochondromas	MONDO_0005508	[A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.]
exostoses-anetodermia-brachydactyly type E syndrome	MONDO_0007584	[Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.]
obsolete_frontotemporal dementia	Orphanet_282
exostoses, multiple, type 1	MONDO_0007585	[Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.]
Monosomy 5p	Orphanet_281
Syndrome with a symptomatic strabismus	Orphanet_98683
obsolete_Wolf-Hirschhorn syndrome	Orphanet_280	[Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.]
familial recurrent peripheral facial palsy	MONDO_0007592
hemifacial hypertrophy	MONDO_0007590	[Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.]
X-03088 measurement	EFO_0021187	[Quantification of the amount of X-03088 in a sample.]
intermediate DEND syndrome	MONDO_0020569	[Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.]
DEND syndrome	MONDO_0019207	[DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.]
X-03056--N-[3- 2-Oxopyrrolidin-1-yl propyl]acetamide measurement	EFO_0021186	[Quantification of the amount of X-03056--N-[3- 2-Oxopyrrolidin-1-yl propyl]acetamide in a sample.]