|
| General Information | |||
|---|---|---|---|
| Term | Potocki-Shaffer syndrome | ID (Ontology) | DOID:0111687 (Human Disease) |
| 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. | ||
| Also Known As | "11p11.2 deletion" ; "proximal 11p deletion syndrome" ; "PSS" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
chromosomal disease |__chromosomal deletion syndrome__ disease | |__syndrome_______________________| Potocki-Shaffer syndrome |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
chromosomal deletion syndrome syndrome |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:9762 MESH:C538356 MIM:601224 NCI:C75456 ORDO:52022 SNOMEDCT_US_2023_03_01:702346005 UMLS_CUI:C1832588 |
|||