Terminology Service < Semantic Lookup Platform

All individuals in MESHD

Label	Id	Description
notation	notation	[A notation, also known as classification code, is a string of characters such as "T58.5" or "303.4833" used to uniquely identify a concept within the scope of a given concept scheme.]
prefLabel	prefLabel	[The preferred lexical label for a resource, in a given language.]
tui	tui
von Hippel-Lindau Disease	D006623	[An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.]
von Willebrand Disease, Type 1	D056725	[A subtype of von Willebrand disease that results from a partial deficiency of VON WILLEBRAND FACTOR.]
von Willebrand Disease, Type 2	D056728	[A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction.]
von Willebrand Disease, Type 3	D056729	[A subtype of von Willebrand disease that results from a total or near total deficiency of VON WILLEBRAND FACTOR.]
von Willebrand Diseases	D014842	[Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.]