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About: amelogenesis imperfecta type 1E     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
  • amelogenesis imperfecta type 1E
described by
id
  • DOID:0110058
database_cross_reference
  • ICD10CM:K00.5
  • OMIM:301200
has_exact_synonym
  • AIH1 (en)
  • X-linked amelogenesis imperfecta 1 (en)
  • amelogenesis imperfecta type IE (en)
  • X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1 (en)
  • amelogenesis imperfecta hypomaturationtype with snow-capped teeth (en)
has_obo_namespace
  • disease_ontology
has_related_synonym
  • X-linked enamel hypoplasia (en)
http://purl.obolib...g/obo/IAO_0000115
  • An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).
is topic of
is annotatedSource of
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