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inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids

AttributesValues
rdf:type
description
  • Krankheit (de)
  • хвороба (uk)
  • مرض بشري (ar)
  • inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids (en)
exact match
exact match
health specialty
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0004736
Disease Ontology ID
  • DOID:9252
rdfs:label
  • amino acid metabolic disorder (en)
  • aminoacido-metabolisma malsano (eo)
  • forstyrring i aminosyremetabolismen (nn)
  • maladie du métabolisme des acides aminés (fr)
  • motnja presnove aminokisline (sl)
  • salwch metabolig asid amino (cy)
  • trastorn metabòlic d'aminoàcids (ca)
  • اضطراب التمثيل الغذائي للحمض الأميني (ar)
skos:prefLabel
  • amino acid metabolic disorder (en)
  • aminoacido-metabolisma malsano (eo)
  • forstyrring i aminosyremetabolismen (nn)
  • maladie du métabolisme des acides aminés (fr)
  • motnja presnove aminokisline (sl)
  • salwch metabolig asid amino (cy)
  • trastorn metabòlic d'aminoàcids (ca)
  • اضطراب التمثيل الغذائي للحمض الأميني (ar)
name
  • amino acid metabolic disorder (en)
  • aminoacido-metabolisma malsano (eo)
  • forstyrring i aminosyremetabolismen (nn)
  • maladie du métabolisme des acides aminés (fr)
  • motnja presnove aminokisline (sl)
  • salwch metabolig asid amino (cy)
  • trastorn metabòlic d'aminoàcids (ca)
  • اضطراب التمثيل الغذائي للحمض الأميني (ar)
instance of
instance of
subclass of
subclass of
Orphanet ID
ICD-9-CM
ICD-10-CM
GARD rare disease ID
Orphanet ID
  • 79062
ICD-9-CM
  • 270
  • 270.9
ICD-10-CM
  • E72.9
GARD rare disease ID
  • 6770
  • 5793
skos:altLabel
  • Amino Acid Metabolism, Inborn Errors (en)
  • aminokislinska metabolična motnja (sl)
  • inborn errors of amino acid metabolism (en)
  • prirojena okvara metabolizma aminokisline (sl)
  • prirojena okvara presnove aminokisline (sl)
  • trastorn del metabolisme dels aminoàcids (ca)
  • trouble du métabolisme des acides aminés (fr)
NCI Thesaurus ID
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
MeSH tree code
MeSH descriptor ID
MeSH tree code
NCI Thesaurus ID
  • C97090
UMLS CUI
  • C0002514
  • C0342666
  • C0750905
MeSH descriptor ID
  • D000592
on focus list of Wikimedia project
MeSH tree code
  • C16.320.565.100
  • C18.452.648.100
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is cites work of
is cites work of
is subclass of of
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