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About: spondylometaepiphyseal dysplasia, short limb-hand type     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
  • spondylometaepiphyseal dysplasia, short limb-hand type
described by
id
  • DOID:0112196
database_cross_reference
  • GARD:10616
  • MESH:C564794
  • OMIM:271665
  • ORDO:93358
  • UMLS_CUI:C1849011
has_exact_synonym
  • spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
  • SMED short limb-abnormal calcification type
  • SMED short limb-hand type
  • SMED type 2
  • SMED, type II
  • SMED-SL
  • SMED-SL/AC
  • spondylometaepiphyseal dysplasia short limb-hand type
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3.
is topic of
is annotatedSource of
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