Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Testicular torsion	HP_0100813	[Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.]
Abnormality of the genital system	HP_0000078	[An abnormality of the genital system.]
diffuse palmoplantar keratoderma with painful fissures	MONDO_0018250
autosomal dominant isolated diffuse palmoplantar keratoderma	MONDO_0020093	[Autosomal dominant form of isolated diffuse palmoplantar keratoderma.]
median fin skeleton	UBERON_4000170	[Postcranial axial skeleton that is unpaired and located on the sagittal plane of the organism.]
skeleton	UBERON_0004288	[Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.]
experimental process	EFO_0002694	[A process performed as part of an experiment or wider study, i.e. intentionally designed.]
Expressive language delay	HP_0002474	[A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.]
Delayed speech and language development	HP_0000750	[A degree of language development that is significantly below the norm for a child of a specified age.]
endocrine system component	FBbt_00007435	[Any material anatomical entity (FBbt:00007016) that capable of some endocrine hormone secretion (GO:0060986).]
endocrine system	UBERON_0000949	[Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity.]
Medich giant platelet syndrome	MONDO_0018268	[Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.]
alpha granule disease	MONDO_0020117
combined cervical dystonia	MONDO_0018267
biexponential transformation	OBI_0200006	[A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation.]
white platelet syndrome	MONDO_0018269	[White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.]
oculocutaneous albinism type 6	MONDO_0018264	[A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.]
oculocutaneous albinism	MONDO_0018910	[Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.]
ataxia - telangiectasia variant	MONDO_0018266	[Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.]
obsolete rare disorder with dystonia and other neurologic or systemic manifestation	MONDO_0018265