(Q55781516)

English

hereditary cryohydrocytosis with normal stomatin

human disease

PSEUDOHYPERKALEMIA CARDIFF
Stomatocytosis, Cold-Sensitive
Cryohydrocytosis

In more languages

Statements

0 references

class of disease

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hereditary stomatocytosis

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genetic association

3 references

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000004939/MONDO_0008494

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000004939/Orphanet_398088

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_398088

0 references

http://www.orpha.net/ORDO/Orphanet_90044

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

0 references

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Sitelinks

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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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