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

AttributesValues
type
subClassOf
label
  • metatropic dysplasia
described by
id
  • DOID:0111514
database_cross_reference
  • GARD:3571
  • MESH:C537356
  • NCI:C175209
  • OMIM:156530
  • ORDO:2635
  • SNOMEDCT_US_2021_09_01:22764001
  • UMLS_CUI:C0265281
has_exact_synonym
  • metatropic dwarfism (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
is topic of
is annotatedSource of
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