Details of Disease

General Information of Disease (ID: DISMM3HW)

• Disease Name: Orofaciodigital syndrome IX
• Synonyms: orofaciodigital syndrome type 9; oral-Facial-digital syndrome, type 9; oral facial digital syndrome type 9; Ofds 9; OFD syndrome 9; oral facial digital syndrome 9; orofaciodigital syndrome 9; oral-Facial-digital syndrome with retinal abnormalities; orofaciodigital syndrome IX; orofaciodigital syndrome with retinal abnormalities; oral-facial-digital syndrome type 9; orofaciodigital syndrome type IX; OFD9; oral-facial-digital syndrome with retinal abnormalities
• Definition: Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).
• Disease Hierarchy:
  DISSB296: Orofaciodigital syndrome
  DISMM3HW: Orofaciodigital syndrome IX
• Disease Identifiers:
  MONDO ID: MONDO_0009795
  MESH ID: C557818
  UMLS CUI: C0796102
  OMIM ID: 258865
  MedGen ID: 162908
  Orphanet ID: 141007
  SNOMED CT ID: 718680001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBC1D32	OTR5NU7K	Limited	Unknown	[1]

References

• [1] Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse. Birth Defects Res A Clin Mol Teratol. 2005 Sep;73(9):583-90. doi: 10.1002/bdra.20164.