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About: amelogenesis imperfecta type 1G     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 1G
described by
id
  • DOID:0110066
database_cross_reference
  • ICD10CM:K00.5
  • OMIM:204690
  • ORDO:1031
has_exact_synonym
  • amelogenesis imperfecta and gingival fibromatosis syndrome (en)
  • amelogenesis imperfecta hypoplastic with nephrocalcinosis (en)
  • AI1G (en)
  • AIGFS (en)
  • ERS (en)
  • amelogenesis imperfecta type IG (en)
  • enamel-renal syndrome (en)
  • enamel-renal-gingival syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
is topic of
is annotatedSource of
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