loading...| Preferred Name |
Potocki-Shaffer syndrome |
| Synonyms |
PSS |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111687 |
| database_cross_reference |
ORDO:52022 NCI:C75456 UMLS_CUI:C1832588 OMIM:601224 GARD:9762 MESH:C538356 SNOMEDCT_US_2022_09_01:702346005 |
| 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. |
| has exact synonym |
PSS 11p11.2 deletion proximal 11p deletion syndrome |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111687 |
| in_subset | |
| label |
Potocki-Shaffer syndrome |
| notation |
DOID:0111687 |
| prefLabel |
Potocki-Shaffer syndrome |
| subClassOf |