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DO Term : Potocki-Shaffer syndrome [DOID:0111687] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C1832588,
  • 11p11.2 deletion,
  • OMIM:601224,
  • GARD:9762,
  • SNOMEDCT_US_2023_03_01:702346005,
  • proximal 11p deletion syndrome,
  • ORDO:52022,
  • PSS,
  • 601224,
  • NCI:C75456,
  • MESH:C538356
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents