Details of Disease

General Information of Disease (ID: DISJ9W3J)

Disease Name Orofaciodigital syndrome 16
Synonyms orofaciodigital syndrome XVI; OFD16; Ofds 16; oral-Facial-digital syndrome, type 16
Disease Hierarchy
DISSB296: Orofaciodigital syndrome
DISJ9W3J: Orofaciodigital syndrome 16
Disease Identifiers
MONDO ID
MONDO_0033045
UMLS CUI
C4539729
OMIM ID
617563
MedGen ID
1620071

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
TMEM107 OT9RMLBJ Strong Biomarker [1]
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References

1 TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.Hum Mutat. 2016 Feb;37(2):155-9. doi: 10.1002/humu.22925. Epub 2015 Nov 23.