Details of Disease

General Information of Disease (ID: DISJOY0X)

Disease Name Birt-Hogg-Dube syndrome 2
Synonyms BHD2
Definition Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.
Disease Hierarchy
DISIN5TD: Birt-Hogg-Dube syndrome
DISJOY0X: Birt-Hogg-Dube syndrome 2
Disease Identifiers
MONDO ID
MONDO_0800455
UMLS CUI
C5830676
OMIM ID
620459
MedGen ID
1841312

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
PRDM10 OTDDWU5Q Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.