|
Term ID: | 2222 |
Name: | CHROMOSOME 17p13.1 DELETION SYNDROME |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:C538045|MESH:D008607|MESH:D008831|MESH:D013064 |
TreeNumbers: | C05.660.207.620/613776 |C10.500.507.400.500/613776 |C10.597.606.150.500.800/613776 |C10.597.606.643/613776 |C16.131.621.207.620/613776 |C16.131.666.507.400.500/613776 |C23.550.210.050.500.500/C538045/613776 |C23.888.592.604.150.500.800/613776 |C23.888.592.604.64 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: 613776
MeSH: 613776
OMIM: 613776;
Genes: AF8T; | Phenotypes | | Disease Causing ClinVar Variants | |
|