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Orofaciodigital syndrome type1 MeSH Supplementary Concept Data 2025


MeSH Supplementary
Orofaciodigital syndrome type1
Unique ID
C537134
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537134
Entry Term(s)
Oral-facial-digital syndrome, type 1
Papillon-League-Psaume syndrome
Registry Numbers
0
Heading Mapped to
*Orofaciodigital Syndromes
Frequency
15
Note
A hereditary, X-linked dominant, orofaciodigital syndrome characterized by oral, facial, and digital malformations. Affected individuals may also have POLYCYSTIC KIDNEY DISEASE; cardiac, and liver abnormalities, as well as neurologic involvement and intellectual disability. It is caused by mutations in the OFD1 gene. OMIM: 311200
Date of Entry
2010/08/25
Revision Date
2016/09/29
Orofaciodigital syndrome type1 Preferred
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