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About: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1     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
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
described by
id
  • DOID:0050768
created_by
  • lschriml
creation_date
  • 2013-02-21T11:26:46Z
database_cross_reference
  • ICD10CM:E88.8
  • OMIM:604273
  • ORDO:254913
has_exact_synonym
  • MC5DN1 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
is topic of
is annotatedSource of
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