(Q979129)

English

congenital central hypoventilation syndrome

Human disease

CCHS
primary alveolar hypoventilation
Ondine curse
Ondine syndrome
central congenital hypoventilation syndrome
congenital central alveolar hypoventilation syndrome
congenital central hypoventilation

In more languages

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Statements

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autonomic nervous system disease

1 reference

30 November 2020

1 reference

15 May 2019

autosomal dominant disease

1 reference

30 November 2020

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1 reference

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

PHOX2B

2 references

stated in

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000109132/Orphanet_661

based on heuristic

inferred from an Open Targets association score over 0.7

ASCL1

1 reference

stated in

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

on focus list of Wikimedia project

WikiProject Medicine

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NCI Thesaurus ID

C98889

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exact match

http://purl.obolibrary.org/obo/DOID_0060731

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060731

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_661

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Commons category

Central hypoventilation syndrome

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Identifiers

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1 reference

imported from Wikimedia project

English Wikipedia

PatientsLikeMe condition ID

congenital-central-hypoventilation-syndrome

0 references

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0 references

1 reference

imported from Wikimedia project

English Wikipedia

eMedicine ID

1002927

1 reference

imported from Wikimedia project

1 reference

28 October 2013

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28 August 2019

1 reference

imported from Wikimedia project

1 reference

28 August 2019

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

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1 reference

28 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

28 August 2019

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UK Parliament thesaurus ID

442287

subject named as

Congenital central hypoventilation syndrome

0 references

UMLS CUI

C1275808

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

Central hypoventilation syndrome

0 references

Sitelinks

Wikipedia(17 entries)

arwiki متلازمة نقص التهوية المركزي
cswiki Ondinina kletba
dewiki Undine-Syndrom
enwiki Central hypoventilation syndrome
eswiki Síndrome de Ondina
fawiki نشانگان کاهش‌دمی مرکزی
frwiki Syndrome d'Ondine
hewiki קללת אונדין
itwiki Ipoventilazione alveolare primitiva
jawiki 先天性中枢性肺胞低換気症候群
nlwiki Ondines vloek
nowiki Odines syndrom
plwiki Klątwa Ondyny
ptwiki Síndrome de Ondine
svwiki Ondines syndrom
thwiki โรคนอนหลับแล้วหยุดหายใจแต่กำเนิด
ukwiki Синдром Ундіни

(Q979129)

congenital central hypoventilation syndrome

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Identifiers

Sitelinks

Wikipedia(17 entries)

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Multilingual sites(1 entry)