Term ID: | 8336 |
Name: | Orofaciodigital syndrome 11 |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D009958 |
TreeNumbers: | C05.116.099.370.652/C557821 |C05.660.207.700/C557821 |C16.131.077.677/C557821 |C16.131.260.830.670/C557821 |C16.131.621.207.700/C557821 |C16.320.180.830.670/C557821 |
Synonyms: | Gabrielli syndrome |OFD11 |OFDS XI |Oral-facial-digital syndrome 11 |Oral-Facial-Digital Syndrome, Type XI |Oral-Facial-Digital Syndrome with Skeletal Anomalies |Orofaciodigital syndrome XI |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease |
Reference: |
MedGen: C557821
MeSH: C557821
OMIM:
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |