(Q27164415)

English

alpha-methylacyl-CoA racemase deficiency

Human disease

AMACR deficiency
Congenital bile acid synthesis defect type 4

In more languages

Statements

0 references

class of disease

0 references

peroxisomal disease

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

health specialty

gastroenterology

0 references

genetic association

2 references

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000242110/EFO_1001980

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0060602

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0060602

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

Identifiers

MeSH descriptor ID

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

Experimental Factor Ontology ID

1 reference

based on heuristic

inferred by common DOID mappings on source and on Wikidata

Genetics Home Reference Conditions ID

alpha-methylacyl-coa-racemase-deficiency

0 references

0 references

Medical Dictionary for Regulatory Activities ID

1 reference

https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx

based on heuristic

inferred by common ICD-10 mappings on Wikidata and on source

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

0 references

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 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)

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