(Q32146742)

English

congenital bile acid synthesis defect 6

human disease

CBAS6
Bile Acid Synthesis Defect, Congenital, 6
congenital bile acid synthesis defect type 6
Bile Acid Synthesis Defect, Congenital, type 6

In more languages

Statements

0 references

class of disease

0 references

congenital bile acid synthesis defect

2 references

Disease Ontology

15 May 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0111067

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://identifiers.org/doid/DOID:0111067

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

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Wikiversity(0 entries)

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