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

Xref MGI. OMIM mapping confirmed by DO. [LS].

AttributesValues
type
subClassOf
label
  • Weill-Marchesani syndrome
comment
  • Xref MGI. OMIM mapping confirmed by DO. [LS].
described by
id
  • DOID:0050475
database_cross_reference
  • GARD:4936
  • MESH:D056846
  • NCI:C85226
  • OMIM:277600
  • OMIM:608328
  • OMIM:613195
  • OMIM:614819
  • ORDO:3449
  • SNOMEDCT_US_2021_09_01:205801004
  • UMLS_CUI:C0265313
  • UMLS_CUI:C1869114
  • UMLS_CUI:C1869115
has_exact_synonym
  • GEMSS syndrome (en)
  • Marchesani-Weill Syndrome (en)
  • Mesodermal Dysmorphodystrophy, Congenital (en)
  • Spherophakia Brachymorphia Syndrome (en)
  • congenital mesodermal dystrophy (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
is topic of
is annotatedSource of
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