Term ID: | 8339 |
Name: | Orofaciodigital syndrome 3 |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D009958 |
TreeNumbers: | C05.116.099.370.652/C557817 |C05.660.207.700/C557817 |C16.131.077.677/C557817 |C16.131.260.830.670/C557817 |C16.131.621.207.700/C557817 |C16.320.180.830.670/C557817 |
Synonyms: | Brachydactyly of the hands and feet with duplication of the first toes |Brachydactyly with major proximal phalangeal shortening |OFDS III |Oral-facial-digital syndrome 3 |Oral-Facial-Digital Syndrome, Type III |Orofaciodigital syndrome III |Sugarman brachydact |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease |
Reference: |
MedGen: C557817
MeSH: C557817
OMIM:
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |