Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Abnormality of toe	HP_0001780	[An anomaly of a toe.]
1205-Lu	EFO_0002810	[A cell line derived from human melanoma.]
AB2.2	EFO_0002812	[A cell line derived from murine embryonic stem cells.]
3T3-F442A	EFO_0002811	[Preadipocyte cell line.]
5q14.3 microdeletion syndrome	MONDO_0016456	[The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.]
partial deletion of the long arm of chromosome 5	MONDO_0016904
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	MONDO_0016457	[Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.]
8q12 microduplication syndrome	MONDO_0016458	[The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.]
partial duplication of the long arm of chromosome 8	MONDO_0016959
2q23.1 microdeletion syndrome	MONDO_0016459	[The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.]
Bacillus amyloliquefaciens	NCBITaxon_1390
severe early-onset axonal neuropathy due to NEFL deficiency	MONDO_0016454	[Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.]
autosomal recessive axonal hereditary motor and sensory neuropathy	MONDO_0019601	[Autosomal recessive form of axonal hereditary motor and sensory neuropathy.]
obsolete_Ehlers-Danlos syndrome, spondylocheirodysplastic type	Orphanet_157965
Oculoauricular syndrome, Schorderet type	Orphanet_157962
Posteriorly placed tongue	HP_0009087
Bacillus anthracis	NCBITaxon_1392
malignant childhood germ cell neoplasm	MONDO_0004479	[A malignant germ cell tumor that occurs during childhood.]
childhood germ cell tumor	MONDO_0003751	[A germ cell tumor that occurs during childhood.]
embryonic hindgut	FBbt_00005630	[Posterior region of the embryonic gut, posterior to the embryonic midgut. It is divided into 3 domains: small and large intestine and rectum. Border cells separate these three regions.]