Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
spondyloperipheral dysplasia-short ulna syndrome	MONDO_0010078	[An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.]
conductive deafness-ptosis-skeletal anomalies syndrome	MONDO_0009084	[Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.]
high myopia-sensorineural deafness syndrome	MONDO_0009082	[High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.]
Microsporum gallinae	NCBITaxon_69892
radiation exposure	EFO_0020980	[Exposure to radioactive materials or ionizing radiation.]
Trichophyton soudanense	NCBITaxon_69891
split hand-foot malformation 1 with sensorineural hearing loss	MONDO_0009080	[Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.]
digit	UBERON_0002544	[A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans).]
brachyolmia type 1, Hobaek type	MONDO_0010070
spondyloepiphyseal dysplasia tarda, Kohn type	MONDO_0010073	[Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.]
spondyloepiphyseal dysplasia tarda	MONDO_0019667	[Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.]
germ ring	UBERON_0002541	[The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting of two layers in addition to the EVL, the epiblast and the hypoblast. The germ ring is formed by the involution of the blastoderm back upon itself[ZFA].]
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	MONDO_0010075	[Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.]
spondyloepimetaphyseal dysplasia with joint laxity	MONDO_0019675	[A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.]
scale	UBERON_0002542	[A small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran (butterfly and moth) species, scales are plates on the surface of the insect wing, and provide coloration. Scales are quite common and have evolved multiple times with varying structure and function.]
brachyolmia type 1, toledo type	MONDO_0010074
GM19193	EFO_0005351
GM20000	EFO_0005352
GM19099	EFO_0005350
arthropod sensillum	UBERON_0002536	[Sense organ embedded in the integument and consisting of one or a cluster of sensory neurons and associated sensory structures, support cells and glial cells forming a single organised unit with a largely bona-fide boundary.[FBbt].]