Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
acanthosis nigricans	EFO_1000660	[a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas., A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.]
pigmentation disease	EFO_1000755	[a group of diseases affecting the color of skin]
allergic urticaria	EFO_1000669	[A urticaria with a basis in a pathological type I hypersensitivity reaction., commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases.]
adiposis dolorosa	EFO_1000667	[a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities., Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.]
lipomatosis	EFO_1000728	[A neoplastic process characterized by diffuse overgrowth of mature adipose tissue., an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders.]
integumentary system benign neoplasm	MONDO_0000652	[A benign neoplasm that involves the integumental system.]
subcutaneous tissue disorder	MONDO_0019296	[A disease involving the superficial fascia.]
contact dermatitis	EFO_0005319	[An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen., a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)]
Subcutaneous neurofibromas	HP_0100698	[The presence of Neurofibromas in the subcutis.]
Abnormality of the skin	HP_0000951	[An abnormality of the skin.]
neurofibroma	EFO_0000622	[An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors., A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016), A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH).]
Scarring	HP_0100699	[A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.]
Abnormality of connective tissue	HP_0003549	[Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).]
obsolete_classic lissencephaly	Orphanet_102009
cholesteatoma of attic	EFO_1000676	[a cholesteatoma in the attic, A cholesteatoma in the attic]
cholesteatoma of middle ear	EFO_1000678	[A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR. , A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.]
cholesteatoma of external ear	EFO_1000677	[A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery., A cholesteatoma (disease) that involves the external ear.]
external ear disease	EFO_0009668	[A disease involving the external ear., A disease involving the external ear. [database_cross_reference: MONDO:DesignPattern]]
cholesteatoma	EFO_1000675	[A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures., A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.]
carbuncle	EFO_1000674	[a cluster of boils, draining pus onto the skin. It is usually caused by bacterial infection, most commonly with Staphylococcus aureusorStreptococcus pyogenes, which can turn lethal. However, the presence of a carbuncle is actually a sign that the immune system is working.[1] The infection is contagious and may spread to other areas of the body, or other people; those living in the same residence may develop carbuncles at the same time.]