(Q6744526)

English

Malonyl-CoA decarboxylase deficiency

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)

malonic aciduria
MALONYL-CoA DECARBOXYLASE DEFICIENCY

In more languages

edit

Statements

instance of

class of disease

0 references

subclass of

inherited metabolic disorder

0 references

metabolic disease due to other fatty acid oxidation disorder

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

3 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/70af8ffa-430b-4c69-bfa9-d6ba2f7b4f32--2018-06-26T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70af8ffa-430b-4c69-bfa9-d6ba2f7b4f32-2018-06-26T160000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000103150/MONDO_0009556

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_943

0 references

Identifiers

MeSH descriptor ID

C535702

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

3371

0 references

Genetics Home Reference Conditions ID

malonyl-coa-decarboxylase-deficiency

0 references

ICD-10-CM

E72.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009556

Microsoft Academic ID

0 references

0 references

mapping relation type

exact match

2 references

imported from Wikimedia project

English Wikipedia

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Malonyl-CoA decarboxylase deficiency

0 references

Sitelinks

Wikipedia(3 entries)

dewiki Malonazidurie
enwiki Malonyl-CoA decarboxylase deficiency
fawiki مالونیک اسیدوری

(Q6744526)

Malonyl-CoA decarboxylase deficiency

Statements

Identifiers

Sitelinks

Wikipedia(3 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)