Details of Disease

General Information of Disease (ID: DISFIZVE)

Disease Name Orofaciodigital syndrome 17
Synonyms orofaciodigital syndrome XVII; oral-Facial-digital syndrome, type 17; OFD17; Ofds 17
Disease Hierarchy
DISSB296: Orofaciodigital syndrome
DISFIZVE: Orofaciodigital syndrome 17
Disease Identifiers
MONDO ID
MONDO_0033375
UMLS CUI
C4693640
OMIM ID
617926
MedGen ID
1644516

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
INTU OTXB13E6 Moderate Autosomal recessive [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.