Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_X-linked intellectual disability, Stevenson type	Orphanet_85325
X-linked intellectual disability, Shrimpton type	Orphanet_85324
lissencephaly due to TUBA1A mutation	MONDO_0012703	[Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.]
obsolete_benign recurrent intrahepatic cholestasis type 1	Orphanet_99960
obsolete_benign recurrent intrahepatic cholestasis type 2	Orphanet_99961
progressive myoclonic epilepsy type 3	MONDO_0012721	[Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.]
dyschromatosis universalis hereditaria	MONDO_0000736	[A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.]
obsolete_spondylocamptodactyly syndrome	Orphanet_3180
blepharophimosis - intellectual disability syndrome	MONDO_0017393
obsolete_corneal-cerebellar syndrome	Orphanet_3177
Spina bifida - hypospadias	Orphanet_3176
Spasticity - intellectual disability - X-linked epilepsy	Orphanet_3175
Infantile spasms - broad thumbs	Orphanet_3173
hepcidin:ferritin ratio	EFO_0007901	[quantification of the ratio of hepcidin to ferritin in a sample]
Abnormality of iron homeostasis	HP_0011031	[An abnormality of the homeostasis (concentration) of iron cation.]
retinol measurement	EFO_0007900	[quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of β-carotene]
vitamin A measurement	EFO_0004857	[Is the quantification of any vitamin A compound.]
spondyloepiphyseal dysplasia, Cantu type	MONDO_0012716	[Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).]
early-onset myopathy with fatal cardiomyopathy	MONDO_0012714
joint hypermobility measurement	EFO_0007905	[quantification of the severity of joint hypermobility, for example using the Beighton score, a score ranging from 0 to 9 based on 9 different measurements regarding the hypermobility of finger, knee, elbow, thumb and hip hypermobility]