| Metadata | |
|---|---|
| ID | DOID:0111687 |
| Name | Potocki-Shaffer syndrome |
| Definition | A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/8644736, https://www.ncbi.nlm.nih.gov/pubmed/20140962 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702346005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
11p11.2 deletion [EXACT] proximal 11p deletion syndrome [EXACT] PSS [EXACT] |
| Parent Relationships |
is_a chromosomal deletion syndrome is_a syndrome |
| Subclass Logical Relationships |
has material basis in some deletion and has material basis in some chromosome |