(Q1823656)

English

Liddle syndrome

genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure

Pseudoaldosteronism
Liddle's syndrome
LIDDLE SYNDROME; LIDLS
Pseudohyperaldosteronism type 1
LIDDLE SYNDROME
LIDLS

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Statements

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renal tubular transport disease

2 references

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

30 November 2020

pseudohyperaldosteronism

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genetic hypertension

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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3 references

13 August 2019

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000168447/MONDO_0008323

based on heuristic

inferred from an Open Targets association score over 0.7

SCNN1G

2 references

stated in

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

11 April 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60ce148e-eb8b-49c4-adec-ae98071f9cc2-2021-06-17T023000.000Z

on focus list of Wikimedia project

WikiProject Medicine

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NCI Thesaurus ID

C84827

1 reference

28 August 2019

http://purl.obolibrary.org/obo/DOID_0050477

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0050477

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_526

0 references

Identifiers

MeSH descriptor ID

D056929

mapping relation type

exact match

subject named as

Liddle Syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

C12.050.351.968.419.815.683

0 references

C12.200.777.419.815.683

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C12.950.419.815.683

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C16.320.831.698

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PatientsLikeMe condition ID

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0 references

1 reference

30 November 2020

1 reference

imported from Wikimedia project

1 reference

28 October 2013

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

28 August 2019

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008323

ICD-11 ID (Foundation)

2066369573

0 references

Medical Dictionary for Regulatory Activities ID

10038464

1 reference

reference URL

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

Microsoft Academic ID

0 references

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

28 August 2019

0 references

0 references

(Q1823656)

Liddle syndrome

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