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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Potocki-Lupski syndrome
described by
id
  • DOID:0060853
database_cross_reference
  • GARD:10145
  • MESH:C538355
  • NCI:C124846
  • OMIM:610883
  • ORDO:1713
  • SNOMEDCT_US_2021_09_01:734016004
  • UMLS_CUI:C2931246
has_exact_synonym
  • 17p11.2 microduplication syndrome (en)
  • chromosome 17p11.2 duplication syndrome (en)
  • trisomy 17p11.2 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.
is topic of
is annotatedSource of
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