Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
coralliform cataract	MONDO_0020375
cerulean cataract	MONDO_0020374	[Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.]
early-onset anterior polar cataract	MONDO_0020373
craniofacial-deafness-hand syndrome	MONDO_0007395	[Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.]
dysostosis, Stanescu type	MONDO_0007396	[Stanescu type dysostosis is a rare form of osteosclerosis.]
early-onset sutural cataract	MONDO_0020372
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	MONDO_0044306	[Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).]
congenital symblepharon	MONDO_0020359
obsolete coloboma of optic disc	MONDO_0020358
progressive rubella panencephalitis	MONDO_0019386	[A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.]
pelvis syndrome	MONDO_0019388	[PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.]
macrostomia-preauricular tags-external ophthalmoplegia syndrome	MONDO_0019387	[Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.]
obsolete_autosomal recessive bestrophinopathy	Orphanet_139455
complete cryptophthalmia	MONDO_0020360
Axenfeld anomaly	MONDO_0020368	[Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.]
immunoskeletal dysplasia with neurodevelopmental abnormalities	MONDO_0044312
primary hereditary glaucoma	MONDO_0015485
open-angle glaucoma	EFO_0004190	[Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage., Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.]
congenital hereditary endothelial dystrophy type I	MONDO_0020365	[Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.]
posterior polymorphous corneal dystrophy	MONDO_0020364	[Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.]