Term ID: | 8340 |
Name: | Orofaciodigital syndrome 4 |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D009958 |
TreeNumbers: | C05.116.099.370.652/C537133 |C05.660.207.700/C537133 |C16.131.077.677/C537133 |C16.131.260.830.670/C537133 |C16.131.621.207.700/C537133 |C16.320.180.830.670/C537133 |
Synonyms: | Baraitser-Burn syndrome |OFD Syndrome, Baraitser-Burn Type |OFD Syndrome With Tibial Defects |Oral Facial Digital Syndrome, Type IV |Orofaciodigital Syndrome IV |Orofaciodigital syndrome with tibial dysplasia |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease |
Reference: |
MedGen: C537133
MeSH: C537133
OMIM:
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |