Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_oculocerebrofacial syndrome, Kaufman type	Orphanet_2707
Cerebellar vermis hypoplasia	HP_0001320	[Underdevelopment of the vermis of cerebellum.]
Cerebellar hypoplasia	HP_0001321	[Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.]
phosphate-to-erythronate ratio	EFO_0021384	[Quantification of the ratio of phosphate to erythronate in a sample.]
valine-to-isovalerylcarnitine ratio	EFO_0021387	[Quantification of the ratio of valine to isovalerylcarnitine in a sample.]
octanoylcarnitine-to-X-13435 ratio	EFO_0021386	[Quantification of the ratio of octanoylcarnitine to X-13435 in a sample.]
betaine-to-pyroglutamine ratio	EFO_0021381	[Quantification of the ratio of betaine to pyroglutamine in a sample.]
X-18601 measurement	EFO_0021380	[Quantification of the amount of X-18601 in a sample.]
X-08402-to-cholesterol ratio	EFO_0021383	[Quantification of the ratio of X-08402 to cholesterol in a sample.]
N-acetylornithine-to-myo-inositol ratio	EFO_0021382	[Quantification of the ratio of N-acetylornithine to myo-inositol in a sample.]
chondrocalcinosis 2	MONDO_0007319	[A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).]
chondrocalcinosis	MONDO_0001314	[An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.]
reticular dystrophy of the retinal pigment epithelium	MONDO_0009979	[Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.]
retinal degeneration-nanophthalmos-glaucoma syndrome	MONDO_0009978	[Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.]
cherubism	MONDO_0007315	[Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.]
Chiari malformation type I	MONDO_0007316	[Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.]
Knobloch syndrome	MONDO_0009977	[Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.]
obsolete_Ochoa syndrome	Orphanet_2704
obsolete_partial duplication of the long arm of chromosome 1	Orphanet_262833
Fanconi anemia complementation group E	MONDO_0010953	[Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.]