Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
primary central nervous system vasculitis	MONDO_0015374
obsolete_spinocerebellar ataxia type 35	Orphanet_276193
menopause	EFO_0003922	[The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age.]
obsolete_spinocerebellar ataxia type 36	Orphanet_276198
obsolete_cleft palate	EFO_0003920	[Congenital fissure of the soft and/or hard palate, due to faulty fusion.]
pouchitis	EFO_0003921	[Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)., Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).]
obsolete_venous thrombosis	EFO_0003905
spinal fracture	EFO_0003902	[Broken bones in the vertebral column., Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting.]
obsolete_Wiskott-Aldrich syndrome	EFO_0003903	[A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.]
obsolete_refractive error	EFO_0003908	[Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.]
obsolete_heart conduction system	EFO_0003909
heart valve prosthesis	EFO_0003906	[Surgical insertion of synthetic material to repair injured or diseased heart valves., A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material.]
deep vein thrombosis	EFO_0003907	[The formation or presence of a blood clot (THROMBUS) within a deep vein in the lower extremity]
obsolete_cerebrotendinous xanthomatosis	Orphanet_909
obsolete_fragile X syndrome	Orphanet_908
obsolete_Wiskott-Aldrich syndrome	Orphanet_906	[Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.]
obsolete_Wilson disease	Orphanet_905
obsolete_Williams syndrome	Orphanet_904
Von Willebrand disease	Orphanet_903	[von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms).]
obsolete_Werner syndrome	Orphanet_902	[Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.]