Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Isolated hair shaft abnormality	Orphanet_79366
atopic asthma	EFO_0010638	[An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold.]
obsolete_hypertrichosis	Orphanet_79365
pain measurement	EFO_0010639	[Quantification of levels of pain.]
Other genetic epidermal disease	Orphanet_79360
Genetic epidermal disorder	Orphanet_183426
pontocerebellar hypoplasia type 13	EFO_0010636	[A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable.]
Non-syndromic pontocerebellar hypoplasia	Orphanet_98523	[Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern.]
salivary metabolite measurement	EFO_0010637	[Quantification of some metabolite in saliva.]
Snijders Blok-Fisher syndrome	EFO_0010634	[An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies.]
obsolete_inherited epidermolysis bullosa	Orphanet_79361
Weiss-Kruszka syndrome	EFO_0010635	[An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging.]
isolated cerebellar hypoplasia/agenesis	MONDO_0008939	[Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.]
global cerebellar malformation	MONDO_0017114
reference sample	EFO_0009654	[A material sample derived from cells or tissue representing a physiologically or phenotypically normal state.]
case control design	EFO_0001427	[A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls).]
material sample	OBI_0000747	[A material which is collected with the intention of being representative of a greater whole (i.e. a sample)., A material entity that has the material sample role]
normal	PATO_0000461	[A normal class is a special type of disease factor used as a control, that is, one which is not known to be affected by any disease; being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm., The state of the organism when it functions optimally without evidence of disease., The state of conforming to a type, standard, or regular pattern. (Merriam-Webster's Collegiate Dictionary, 10th ed), A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average., Being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm.]
Snijders Blok-Campeau syndrome	EFO_0010643	[Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable (summary by Snijders Blok et al., 2018).]
early-onset cerebellar ataxia with retained tendon reflexes	MONDO_0008938	[Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.]