About: methylmalonic acidemia cblA type     Goto   Sponge   NotDistinct   Permalink

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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_0009613
Disease Ontology ID
  • DOID:0060742
rdfs:label
  • methylmalonic acidemia cblA type (en)
  • acidémie méthylmalonique sensible à la vitamine B12 type cblA (fr)
skos:prefLabel
  • methylmalonic acidemia cblA type (en)
  • acidémie méthylmalonique sensible à la vitamine B12 type cblA (fr)
name
  • methylmalonic acidemia cblA type (en)
  • acidémie méthylmalonique sensible à la vitamine B12 type cblA (fr)
instance of
instance of
subclass of
subclass of
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-00747
Orphanet ID
  • 79310
genetic association
ICD-10-CM
  • E71.1
GARD rare disease ID
  • 5500
OMIM ID
  • 251100
skos:altLabel
  • Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect 1N Synthesis of Adenosylcobalamin, Cbla Type (en)
  • Methylmalonic Acidemia, cblA Type (en)
  • Vitamin B12-responsive methylmalonic aciduria type cblA (en)
  • methylmalonic aciduria cb1A type (en)
  • methylmalonic aciduria cblA type (en)
  • methylmalonic aciduria, cblA type (en)
  • methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type (en)
  • methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type (en)
  • Vitamin B12-responsive methylmalonic acidemia type cblA (en)
NCI Thesaurus ID
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
MeSH descriptor ID
NCI Thesaurus ID
  • C142171
UMLS CUI
  • C1855109
MeSH descriptor ID
  • C537360
on focus list of Wikimedia project
is about of
is main subject of
is main subject of
is genetic association of
is genetic association of
is medical condition of
is medical condition of
is established from medical condition of
is established from medical condition of
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