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About: Van Esch-O'Driscoll syndrome     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • Van Esch-O'Driscoll syndrome
described by
id
  • DOID:0111840
database_cross_reference
  • OMIM:301030
  • ORDO:163976
has_exact_synonym
  • X-linked syndromic mental retardation Van Esch-O'Driscoll type
  • MRXSVEOD
  • VEODS
  • X-linked intellectual disability, Van Esch type
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in POLA1 on chromosome Xp22.1-p21.3.
is topic of
is annotatedSource of
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