Details of Disease | DrugMAP

General Information of Disease (ID: DISLYV75)

Disease Name	Orofaciodigital syndrome III
Synonyms	OFD syndrome 3; orofaciodigital syndrome 3; oral facial digital syndrome 3; orofaciodigital syndrome type 3; oral-Facial-digital syndrome, type 3; oral facial digital syndrome type 3; Ofds 3; orofaciodigital syndrome type III; OFD3; Sugarman syndrome; orofaciodigital syndrome III; oral-facial-digital syndrome type 3
Definition	Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.
Disease Hierarchy	DISSB296: Orofaciodigital syndrome DISLYV75: Orofaciodigital syndrome III
Disease Identifiers	MONDO ID MONDO_0009793 MESH ID C557817 UMLS CUI C0406726 OMIM ID 258850 MedGen ID 96069 Orphanet ID 2752 SNOMED CT ID 239030004

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
TMEM231	OTF4UYIE	Supportive	Autosomal recessive	[1]
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References

1	TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol. 2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087.