Search Ontology:
Human Disease
Potocki-Shaffer syndrome
- Term ID
- DOID:0111687
- Synonyms
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- 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
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- GARD:9762
- MESH:C538356
- MIM:601224
- NCI:C75456
- ORDO:52022
- SNOMEDCT_US_2023_03_01:702346005
- UMLS_CUI:C1832588
- Ontology
- Human Disease ( DOID:0111687 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models