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About: schneckenbecken dysplasia     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
  • schneckenbecken dysplasia
described by
id
  • DOID:0050775
created_by
  • lschriml
creation_date
  • 2013-02-21T12:00:39Z
database_cross_reference
  • GARD:169
  • MESH:C536637
  • OMIM:269250
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
is topic of
is annotatedSource of
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