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About: ethylmalonic encephalopathy     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
  • ethylmalonic encephalopathy
described by
id
  • DOID:0060640
database_cross_reference
  • GARD:2198
  • MESH:C535737
  • OMIM:602473
  • ORDO:51188
  • SNOMEDCT_US_2021_09_01:723307008
  • UMLS_CUI:C1865349
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
is topic of
is annotatedSource of
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