Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Premature thelarche	HP_0010314	[Premature development of the breasts.]
obsolete_pili gemini	Orphanet_79492
obsolete_Brooke-Spiegler syndrome	Orphanet_79493	[Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.]
Dicentrarchus labrax	NCBITaxon_13489
obsolete_disorder of O-xylosylglycan synthesis	Orphanet_309450
Breast hypertrophy	HP_0010313	[The presence of hypertrophy of the breast.]
adrenal medulla cancer	MONDO_0003606	[A malignant neoplasm involving the adrenal medulla]
Axillary freckling	HP_0000997	[The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.]
freckles	EFO_0003963	[Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.]
genistein	CHEBI_28088	[A hydroxyisoflavone that has formula C15H10O5., A phytoestrogenic isoflavone with antioxidant properties.]
Graham Little-Piccardi-Lassueur syndrome	MONDO_0018858	[Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.]
keratosis pilaris	MONDO_0021036	[A form of dry skin characterised by hair follicles plugged by scale.]
obsolete_phakomatosis spilorosea	Orphanet_79485
familial keratoacanthoma	MONDO_0018851	[Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.]
keratoacanthoma	MONDO_0002527	[A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin.]
benign tumor of palpebral epidermis	MONDO_0020173	[A benign neoplasm that involves the skin of eyelid.]
obsolete_phakomatosis cesiomarmorata	Orphanet_79484
obsolete_disorder of O-N-acetylgalactosaminylglycan synthesis	Orphanet_309458
transgrediens et progrediens palmoplantar keratoderma	MONDO_0018853
erythrokeratodermia variabilis	MONDO_0017851	[A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents.]