Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
basal encephalocele	MONDO_0017082
leptomyelolipoma	MONDO_0017084	[Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.]
glaucoma, primary closed-angle	MONDO_0030038
occipital encephalocele	MONDO_0017080
parietal encephalocele	MONDO_0017081
gibberellin A4	CHEBI_32902
intellectual developmental disorder 61	MONDO_0032485
obsolete_cutis laxa	Orphanet_209
Crouzon disease	Orphanet_207	[Crouzon disease is characterized by craniosynostosis and facial hypoplasia.]
Craniostenosis associated with a strabismus	Orphanet_98684
obsolete_Crigler-Najjar syndrome	Orphanet_205	[Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.]
obsolete_Crandall syndrome	Orphanet_202
obsolete_Cowden syndrome	Orphanet_201
negative regulation of heart contraction	GO_0045822	[Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction.]
regulation of heart contraction	GO_0008016	[Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body.]
positive regulation of heart contraction	GO_0045823	[Any process that activates or increases the frequency, rate or extent of heart contraction.]
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2F	Orphanet_219
obsolete_Darier disease	Orphanet_218	[Darier's disease is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules, keratosis follicularis or dyskeratosis follicularis.]
obsolete_Isolated Dandy-Walker malformation	Orphanet_217
obsolete_neuronal ceroid lipofuscinosis	Orphanet_216