(Q203115)

English

visceral heterotaxy

rare disease

heterotaxia
situs ambiguus
HTX2
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2
Transposition of the Great Arteries, Dextro-Looped 2; DTGA2
Htx
Situs ambiguous
Partial situs inversus
Incomplete situs inversus
Heterotaxy Syndrome

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

congenital disorder

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic cardiac disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic cardiac anomaly

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

health specialty

0 references

0 references

genetic association

2 references

UniProt protein ID

13 August 2019

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

1 reference

A human laterality disorder associated with recessive CCDC11 mutation

1 reference

X-linked situs abnormalities result from mutations in ZIC3

1 reference

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C87083

0 references

http://purl.obolibrary.org/obo/DOID_0050545

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050545

1 reference

Identifiers.org

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

http://purl.obolibrary.org/obo/HP_0011536

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

http://www.orpha.net/ORDO/Orphanet_450

0 references

http://www.orpha.net/ORDO/Orphanet_157769

0 references

Identifiers

MeSH descriptor ID

subject named as

Heterotaxy Syndrome

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

C14.240.400.592

0 references

C14.280.400.592

0 references

C15.604.744.146

0 references

C16.131.077.401

0 references

C16.131.240.400.592

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(6 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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