Details of Disease

General Information of Disease (ID: DISFCCZM)

Disease Name Fraser syndrome 2
Synonyms FRASRS2; Fraser syndrome 2
Disease Hierarchy
DISCLC2B: Fraser syndrome
DISFCCZM: Fraser syndrome 2
Disease Identifiers
MONDO ID
MONDO_0054738
UMLS CUI
C4540036
OMIM ID
617666
MedGen ID
1624349

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
FREM2 OTEK6BZR Moderate Autosomal recessive [1]
------------------------------------------------------------------------------------

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.