About: mitochondrial DNA depletion syndrome 3     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Human disease

AttributesValues
rdf:type
description
  • Krankheit (de)
  • Human disease (en)
  • хвороба людини (uk)
  • مرض يصيب الإنسان (ar)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0009636
Disease Ontology ID
  • DOID:0080121
rdfs:label
  • mitochondrial DNA depletion syndrome 3 (en)
  • syndrome de déplétion de l'ADN mitochondrial 3 (fr)
skos:prefLabel
  • mitochondrial DNA depletion syndrome 3 (en)
  • syndrome de déplétion de l'ADN mitochondrial 3 (fr)
name
  • mitochondrial DNA depletion syndrome 3 (en)
  • syndrome de déplétion de l'ADN mitochondrial 3 (fr)
instance of
instance of
subclass of
subclass of
UniProt disease ID
Orphanet ID
genetic association
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-01709
Orphanet ID
  • 279934
genetic association
GARD rare disease ID
  • 13644
OMIM ID
  • 251880
skos:altLabel
  • MTDPS3 (en)
  • Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (en)
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (en)
  • deoxyguanosine kinase deficiency (en)
  • mitochondrial DNA depletion syndrome type 3 (en)
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 (en)
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
MeSH descriptor ID
UMLS CUI
  • C3151513
MeSH descriptor ID
  • C580039
on focus list of Wikimedia project
is about of
is said to be the same as of
is said to be the same as of
is genetic association of
is genetic association of
is medical condition of
is medical condition of
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