Details of Disease

General Information of Disease (ID: DISSRCA0)

Disease Name Polyposis syndrome, hereditary mixed, 2
Synonyms
HMPS2; BMPR1A hereditary mixed polyposis syndrome; hereditary mixed polyposis syndrome caused by mutation in BMPR1A; polyposis syndrome, hereditary mixed, 2; polyposis syndrome, hereditary mixed, type 2
Definition Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.
Disease Hierarchy
DISPNBY1: Hereditary mixed polyposis syndrome
DISSRCA0: Polyposis syndrome, hereditary mixed, 2
Disease Identifiers
MONDO ID
MONDO_0012405
MESH ID
C566451
UMLS CUI
C1864730
OMIM ID
610069
MedGen ID
350500

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BMPR1A OTQOA4ZH Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.