Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Corneal dystrophy - perceptive deafness	Orphanet_1490
Rare genetic eye disease	Orphanet_101435
cervical incompetence	EFO_0007202	[A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term., A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.]
chromosome-type aberration frequency	EFO_0009861	[Frequency of chromosome-type chromosomal aberrations in human peripheral blood (typically resulting in damage to both chromatids).]
synapse part	GO_0044456	[ Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. ]
synapse	GO_0045202
chromatid-type aberration frequency	EFO_0009862	[Frequency of chromatid-type chromosomal aberrations in human peripheral blood (typically resulting in damage to a single chromatid).]
brain cancer	MONDO_0001657	[A primary or metastatic malignant neoplasm affecting the brain.]
Churg-Strauss syndrome	EFO_0007208	[Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia., A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.]
Granulomatosis with Polyangiitis	EFO_0005297	[A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis., A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.]
chromoblastomycosis	EFO_0007207	[Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa., A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.]
subcutaneous mycosis	MONDO_0000255	[A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.]
dermatomycosis	MONDO_0002040	[Superficial infections of the skin or its appendages by any of various fungi.]
choroid plexus cancer	EFO_0007206	[A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain., A malignant neoplasm involving the choroid plexus]
disorder of central nervous system or retinal vasculature	MONDO_0020676
choroid plexus neoplasm	MONDO_0016717	[An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.]
commensal bacterial infectious disease	MONDO_0000315	[A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.]
Genu valgum	HP_0002857	[The legs angle inward, such that the knees are close together and the ankles far apart.]
Bowing of the legs	HP_0002979	[A bending or abnormal curvature affecting a long bone of the leg.]
dysphoria	EFO_0009867	[Dysphoria is a profound state of unease or dissatisfaction. In a psychiatric context, dysphoria may accompany depression, anxiety, or agitation. Common reactions to dysphoria include emotional distress or indifference.]