Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked intellectual disability - cubitus valgus - dysmorphism	Orphanet_85280
Legius syndrome	MONDO_0012669	[Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.]
Crane-Heise syndrome	MONDO_0009028	[Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.]
uterine hyperstimulation	EFO_0020915	[Uterine hyperstimulation or hypertonic uterine dysfunction is a potential complication of labor induction when the contraction frequency exceeds more than five in a 10-minute time frame or as contractions exceeding more than two minutes in duration.]
iPS-NIHi7	EFO_0007953	[Induced pluripotent stem cell line isolated from skin sample AG08395.]
obsolete_MEHMO syndrome	Orphanet_85282
Costello syndrome	MONDO_0009026	[Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.]
Hyperekplexia - epilepsy	Orphanet_163985
X-linked intellectual disability - epilepsy	Orphanet_2076
fetal genotype effect measurement	EFO_0007959	[quantification of the effect of the fetal genotype on the metabolic processes of the mother during pregnancy]
apparent mineralocorticoid excess	MONDO_0009025	[Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.]
thermal burn	EFO_0020910	[Thermal burns fall into six categories, including scalds, thermal contact burns, electrical burns, chemical burns, radiation burns, and burns caused by fire.]
obsolete_BRESEK syndrome	Orphanet_85284
cortical blindness-intellectual disability-polydactyly syndrome	MONDO_0009024	[This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.]
urinary 1,3-butadiene measurement	EFO_0007957	[quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties]
obsolete_X-linked intellectual disability, Miles-Carpenter type	Orphanet_85283
temtamy syndrome	MONDO_0009033	[Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.]
cranioectodermal dysplasia	MONDO_0009032	[Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).]
apolipoprotein C measurement	EFO_0020950	[Quantification of the amount of apolipoprotein C in a sample.]
craniodiaphyseal dysplasia	MONDO_0009031	[Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.]