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Juvenile polyposis syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Juvenile polyposis syndrome
Unique ID
C537702
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537702
Entry Term(s)
Bmpr1a-Related Juvenile Polyposis
Juvenile Polyposis Coli
Juvenile Polyposis Of Infancy
Juvenile Polyposis Of Stomach
Juvenile Polyposis, Infantile
Juvenile intestinal polyposis
Polyposis, familial, of entire gastrointestinal tract
Polyposis, juvenile intestinal
Smad4-Related Juvenile Polyposis
Heading Mapped to
*Neoplastic Syndromes, Hereditary
Intestinal Polyposis / congenital
Frequency
127
Note
A hereditary form of intestinal polyposis where POLYPS first appear by age 20. Diagnosis is based on the presence of HARMATOMA - like gastrointestinal polyps that become malignant lesions by age 35 in 20% of cases. Germline mutations in the SMAD4 and BMPR1A genes have been identified. OMIM: 174900
Date of Entry
2010/08/25
Revision Date
2015/08/18
Juvenile polyposis syndrome Preferred
Juvenile Polyposis Of Stomach Related
Juvenile Polyposis Coli Related
Bmpr1a-Related Juvenile Polyposis Narrower
Smad4-Related Juvenile Polyposis Narrower
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