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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
  • acromicric dysplasia
described by
id
  • DOID:0111243
database_cross_reference
  • GARD:7
  • MESH:C535662
  • OMIM:102370
  • ORDO:969
  • SNOMEDCT_US_2021_09_01:254090007
  • UMLS_CUI:C0265287
has_exact_synonym
  • ACMICD (en)
  • acromicric skeletal dysplasia (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.
is topic of
is annotatedSource of
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