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New Online Syndrome Resource: Multiple Congenital Anomaly/Mental Retardation

New Online Syndrome Resource: Multiple Congenital Anomaly/Mental Retardation. NLM Technical Bulletin. 1999 Nov–Dec;(311):e1.

November 1999 [posted]

The National Library of Medicine is pleased to announce a new Web-based resource to help health practitioners, librarians and others identify syndromes in which multiple congenital anomalies are associated with mental retardation. Online Multiple Congenital Anomaly / Mental Retardation (MCA/MR) Syndromes© (http://www.nlm.nih.gov/archive/20061212/mesh/jablonski/syndrome_title.html.notice.html) has been developed by Stanley Jablonski in collaboration with the Office of Computer and Communications Systems (OCCS) and the Medical Subject Headings Section.

At the present time the system includes structured descriptions of approximately 700 out of the 1600-2000 syndromes of congenital abnormalities known to be associated with mental retardation. Additional entries will be added in the future. There is provision for knowledgeable individuals to submit additional entries for eventual inclusion. As a unique aspect of the scope, this system encompasses chromosomal aberrations and x-linked mental retardation characteristics, some of which are not routinely designated in the literature as syndromes, but possess sufficient syndromic characteristics. Information about each syndrome includes synonyms, personalia, OMIM entries, Unified Medical Subject Headings (UMLS) entries, and MeSH terms. The interface has been based on the logic and format of the MeSH browser (http://www.nlm.nih.gov/mesh/MBrowser.html), also accessible to users from the NLM Web site.