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About: 7q11.23 duplication syndrome     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • 7q11.23 duplication syndrome (en)
described by
id
  • DOID:0080926
database_cross_reference
  • GARD:12076
  • OMIM:609757
  • ORDO:96121
has_exact_synonym
  • 7q11.23 microduplication syndrome
  • William-Beuren region duplication syndrome
  • chromosome 7q11.23 duplication syndrome
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7.
is topic of
is annotatedSource of
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