Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17264	CLO_0013168	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature	MONDO_0020097	[OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature.]
Complex Cyst of Kidney	EFO_0008616	[A heterogeneous and/or septated cyst located in the kidney. [ NICHD NCI ]]
GM17266	CLO_0013181	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
Gibberella moniliformis	NCBITaxon_117187
minor salivary gland	UBERON_0001830	[One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP].]
AACOCF3	CHEBI_2341
GM17268	CLO_0013177	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
GM17269	CLO_0013176	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
mouth mucosa	UBERON_0003729	[A mucous membrane that lines the mouth.]
pemphigus foliaceus	EFO_0008601	[Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed., Pemphigus foliaceus is an autoimmune blistering disease of the skin with characteristic lesions that are scaly, crusted erosions, often on an erythematous base. [Wikipedia]]
obsolete_Female restricted epilepsy with intellectual disability	Orphanet_101039	[Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance.]
GM17262	CLO_0013173	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
pemphigus herpetiformis	EFO_0008606	[Pemphigus herpetiformis is a rare autoimmune bullous skin disorder that is considered a clinical variant of pemphigus. Classically, it combines the clinical features of dermatitis herpetiformis with the immunopathologic features of pemphigus.]
drug-induced pemphigus	EFO_0008607	[Pemphigus is an autoimmune bullous disease characterized by blisters and erosions of the skin and mucous membranes. Several variants of the disease exist, including pemphigus vulgaris, pemphigus foliaceous, and drug-induced pemphigus. Patients with drug-induced pemphigus have autoantibodies that are either circulating or tissue bound.]
Peters anomaly - cataract	Orphanet_101033
radiotherapy-induced pemphigus	EFO_0008608	[Pemphigus induced by radiotherapy.]
paraneoplastic pemphigus	EFO_0008602	[Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare., Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor.]
pemphigus erythematosus	EFO_0008603	[Pemphigus erythematosus (also known as "Senear–Usher syndrome") is simply a localized form of pemphigus foliaceus with features of lupus erythematosus. [ Wikipedia ], Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.]
IgA pemphigus	EFO_0008604	[Immunoglobulin A (IgA) pemphigus is a group of newly characterized immune-mediated intraepidermal blistering skin diseases. Unlike typical immunoglobulin G (IgG)–mediated pemphigus, IgA pemphigus is characterized by tissue-bound and circulating IgA autoantibodies that target the desmosomal proteins of the epidermis [ https://emedicine.medscape.com/article/1063776-overview ]]