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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
  • AMME complex
described by
id
  • DOID:0111860
database_cross_reference
  • MESH:C564570
  • OMIM:300194
  • ORDO:86818
  • SNOMEDCT_US_2021_09_01:720982007
  • UMLS_CUI:C1846242
has_exact_synonym
  • Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
  • AMME syndrome
  • ATS-MR
  • chromosome Xq22.3 telomeric deletion syndrome
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.
is topic of
is annotatedSource of
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