Term ID: | 8927 |
Name: | Pierre Robin Sequence with Facial and Digital Anomalies |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D010855|MESH:D019066 |
TreeNumbers: | C05.500.460.606/C564078 |C05.660.207.540.460.606/C564078 |C07.320.440.606/C564078 |C07.650.500.460.606/C564078 |C16.131.621.207.540.460.606/C564078 |C16.131.850.500.460.606/C564078 |C23.550.291.812/C564078 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) |
Reference: |
MedGen: C564078
MeSH: C564078
OMIM: 311895;
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |