| Metadata | |
|---|---|
| ID | DOID:0060853 |
| Name | Potocki-Lupski syndrome |
| Definition | A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/10615134, https://www.ncbi.nlm.nih.gov/pubmed/20425816 |
| Xrefs |
SNOMEDCT_US_2023_03_01:734016004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
17p11.2 microduplication syndrome [EXACT] chromosome 17p11.2 duplication syndrome [EXACT] trisomy 17p11.2 [EXACT] |
| Parent Relationships |