Terminology Service for NFDI4Health

Potocki-Shaffer syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0111687


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. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

Potocki-Shaffer syndrome

Synonyms
  • 11p11.2 deletion
  • PSS
  • proximal 11p deletion syndrome
database cross reference
has obo namespace

disease_ontology

id

DOID:0111687

Term relations

Subclass of: