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About: Smith-McCort dysplasia     Goto   Sponge   Distinct   Permalink

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

NT MGI.

AttributesValues
type
subClassOf
label
  • Smith-McCort dysplasia
comment
  • NT MGI.
described by
id
  • DOID:0060247
created_by
  • emitraka
creation_date
  • 2015-01-29T15:06:25Z
database_cross_reference
  • MESH:C564589
  • OMIM:607326
  • OMIM:615222
  • ORDO:178355
  • SNOMEDCT_US_2021_09_01:715862006
  • UMLS_CUI:C1846431
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
is topic of
is annotatedSource of
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