isovaleric acidemia (Q3278042)

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organic acidemia disrupting or preventing normal metabolism of the branched-chain amino acid leucine
  • Isovaleryl-CoA dehydrogenase deficiency (disorder)
  • isovaleric acid CoA dehydrogenase deficiency
  • isovaleric aciduria
  • Isovaleryl-CoA dehydrogenase deficiency
  • ISOVALERIC ACIDEMIA; IVA
  • IVA
  • Isovaleryl CoA carboxylase deficiency
  • Ivd Deficiency
  • ISOVALERIC ACIDEMIA
  • Isovalericacidemia
Language Label Description Also known as
English
isovaleric acidemia
organic acidemia disrupting or preventing normal metabolism of the branched-chain amino acid leucine
  • Isovaleryl-CoA dehydrogenase deficiency (disorder)
  • isovaleric acid CoA dehydrogenase deficiency
  • isovaleric aciduria
  • Isovaleryl-CoA dehydrogenase deficiency
  • ISOVALERIC ACIDEMIA; IVA
  • IVA
  • Isovaleryl CoA carboxylase deficiency
  • Ivd Deficiency
  • ISOVALERIC ACIDEMIA
  • Isovalericacidemia

Statements

OMIM ID
243500
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14753
Freebase ID
/m/05xfsh
1 reference
stated in
Q15241312 (Deleted Item)
publication date
28 October 2013
Disease Ontology ID
DOID:14753
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14753
subclass of
organic acidemia
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14753
Q55788539 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009475
NCI Thesaurus ID
C98964
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14753
Orphanet ID
33
mapping relation type
Q39893449 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009475
UMLS CUI
C0268575
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14753
instance of
Q42303753 (Deleted Item)
2 references
reference URL
http://www.nanbyou.or.jp/entry/4816
retrieved
6 December 2018
reference URL
https://ddrare.nibiohn.go.jp/
retrieved
17 May 2019
Q929833 (Deleted Item)
0 references
Q112193867 (Deleted Item)
0 references
ICD-10-CM
E71.110
2 references
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14753
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009475
E71.1
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009475
GARD rare disease ID
465
2 references
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009475
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14753
Encyclopædia Britannica Online ID
science/isovaleric-acidemia
subject named as
isovaleric acidemia
0 references
MeSH descriptor ID
C538167
mapping relation type
Q39893449 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009475
KEGG ID
H00173
0 references
Genetics Home Reference Conditions ID
isovaleric-acidemia
0 references
P11430 (Deleted Property)
DI-01845 Property P11430 not found, cannot determine the data type to use.
0 references
WikiProjectMed ID
Isovaleric acidemia
0 references
Mondo ID
MONDO_0009475
0 references
 
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