Term ID: | 9888 |
Name: | Robin Sequence with Distinctive Facial Appearance and Brachydactyly |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D008607|MESH:D010855|MESH:D019066|MESH:D059327 |
TreeNumbers: | C05.500.460.606/C563880 |C05.660.207.540.460.606/C563880 |C05.660.585.262/C563880 |C07.320.440.606/C563880 |C07.650.500.460.606/C563880 |C10.597.606.643/C563880 |C16.131.621.207.540.460.606/C563880 |C16.131.621.585.262/C563880 |C16.131.850.500.460.606/C563880 |C2 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: C563880
MeSH: C563880
OMIM:
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |