Search Ontology:
Human Disease

Potocki-Shaffer syndrome

Term ID
DOID:0111687
Synonyms
  • 11p11.2 deletion
  • proximal 11p deletion 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. (3)
References
(all 7)
Ontology
Human Disease   ( DOID:0111687 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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