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About: Rothmund-Thomson syndrome     Goto   Sponge   NotDistinct   Permalink

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

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • Rothmund-Thomson syndrome
comment
  • OMIM mapping confirmed by DO. [SN].
has exact match
  • MESH:D011038
described by
id
  • DOID:2732
database_cross_reference
  • ICD10CM:Q82.8
  • GARD:4392
  • MESH:D011038
  • NCI:C3335
  • OMIM:268400
  • SNOMEDCT_US_2021_09_01:205572001
  • UMLS_CUI:C0032339
has_exact_synonym
  • Congenital poikiloderma (en)
  • RTS (en)
has_obo_namespace
  • disease_ontology
in_subset
is topic of
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