%D9%84%D8%B9%D9%86%D8%A9_%D8%A3%D9%88%D9%86%D8%AF%D9%8A%D9%86%D9%87Category:Central_hypoventilation_syndromeOndinina_kletbaUndine-SyndromCentral_hypoventilation_syndromeS%C3%ADndrome_de_Ondina%D9%86%D8%B4%D8%A7%D9%86%DA%AF%D8%A7%D9%86_%DA%A9%D8%A7%D9%87%D8%B4%E2%80%8C%D8%AF%D9%85%DB%8C_%D9%85%D8%B1%DA%A9%D8%B2%DB%8CSyndrome_d%27Ondine%D7%A7%D7%9C%D7%9C%D7%AA_%D7%90%D7%95%D7%A0%D7%93%D7%99%D7%9FIpoventilazione_alveolare_primitiva%E5%85%88%E5%A4%A9%E6%80%A7%E4%B8%AD%E6%9E%A2%E6%80%A7%E8%82%BA%E8%83%9E%E4%BD%8E%E6%8F%9B%E6%B0%97%E7%97%87%E5%80%99%E7%BE%A4Ondines_vloekOdines_syndromKl%C4%85twa_OndynyS%C3%ADndrome_de_OndineOndines_syndrom%E0%B9%82%E0%B8%A3%E0%B8%84%E0%B8%99%E0%B8%AD%E0%B8%99%E0%B8%AB%E0%B8%A5%E0%B8%B1%E0%B8%9A%E0%B9%81%E0%B8%A5%E0%B9%89%E0%B8%A7%E0%B8%AB%E0%B8%A2%E0%B8%B8%E0%B8%94%E0%B8%AB%E0%B8%B2%E0%B8%A2%E0%B9%83%E0%B8%88%E0%B9%81%E0%B8%95%E0%B9%88%E0%B8%81%E0%B8%B3%E0%B9%80%E0%B8%99%E0%B8%B4%E0%B8%94%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%A3%D0%BD%D0%B4%D1%96%D0%BD%D0%B8Q979129
about
P1889
P279
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeExtreme intra-familial variability of congenital central hypoventilation syndrome: a case seriesImpaired neural structure and function contributing to autonomic symptoms in congenital central hypoventilation syndromeMolecular analysis of congenital central hypoventilation syndromeCongenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parentsPolyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansionEndothelin-3 frameshift mutation in congenital central hypoventilation syndromeLater-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B geneComparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriersPHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthoodPitfalls of open-access sleep medicine: a case of missed congenital central hypoventilation syndrome.The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.Central autonomic regulation in congenital central hypoventilation syndromeDiffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome.Hippocampal volume reduction in congenital central hypoventilation syndrome.Rostral brain axonal injury in congenital central hypoventilation syndrome.Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibsCongenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulationAirway obstruction in congenital central hypoventilation syndromePHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.Images in sleep medicine. Altered cerebral blood flow in a patient with congenital central hypoventilation syndromeA case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse).Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.The cerebral cost of breathing: an FMRI case-study in congenital central hypoventilation syndromeLong-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support.Aberrant neural responses to cold pressor challenges in congenital central hypoventilation syndrome.Average volume-assured pressure support in a 16-year-old girl with congenital central hypoventilation syndrome.Chemoreceptive mechanisms elucidated by studies of congenital central hypoventilation syndrome.Diaphragm pacers as a treatment for congenital central hypoventilation syndrome.Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.Alcohol use in congenital central hypoventilation syndrome.Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome.Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.Congenital central hypoventilation syndrome: not just another rare disorder.Autonomic function in children with congenital central hypoventilation syndrome and their families.Selectively diminished corpus callosum fibers in congenital central hypoventilation syndrome.Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience.
P921
Q24297313-73DBDCC1-C408-499F-BF63-A7C7F904DBC5Q24297880-08DD1981-1CA0-4734-B91D-23C3899BF0FBQ27499076-AD490F70-F7A2-46C4-97BC-2ABABA24FE7BQ28080892-FD5E8813-5C1B-40DC-9C9F-756E94B64E77Q28210943-0EA79956-3B8F-48A2-BC16-203BD74EEA19Q28256410-B87FC7FE-E290-4BB1-B28C-CB9A49361EC2Q28263308-98B8833E-6044-4E11-9BD7-2B0C9A973CF3Q28283852-94C20A7D-6D3A-437C-A383-C28C8AED94ACQ28294283-3792C461-D01E-430F-B8C0-A12A94A12FA7Q28297735-B1ABBA8C-B7FD-42FF-A3F7-7D412005262BQ28308265-553AF5E4-0CA4-44A0-8397-9D5C25380396Q30489163-4DA5445F-320B-4824-8FDE-EE92830703FBQ30980722-309FEB47-F28C-428B-BC52-077881BD9003Q33158457-419F3439-C1E1-4E7D-979D-D69AEFBE2E2FQ33331868-4EF276EA-0B33-4107-89F9-3220A486C47FQ33489559-1E5DBE65-C2B6-41BB-8A42-2FB53597E313Q33538123-0B174A7C-84C7-4065-AEC6-308BF7352EB3Q33598463-DA97CC1E-5A65-48C4-B1E9-04A0476F4433Q33624831-A1B73EAF-C5D7-4D8A-A91B-C8BCA9DE0BFFQ33691193-F58ECBC2-F519-4430-827E-ED965E04DA93Q33938632-872E9C6E-6FAD-4FE7-8FE1-AFF85581C3DCQ33957363-B01D6818-86A0-4643-A2CA-D3E0556A1BFFQ33979135-A9E12C9B-5ADF-4D8A-8DFD-E23A0B9F6E89Q34014829-D71724E5-33D3-4A59-8953-BB572C72B538Q34105675-6704A122-C44B-4000-A44D-766F7D1B245FQ34156952-B08DE48D-F454-4D60-B435-2301DF600738Q34277110-8C50495A-0981-4678-A212-A19FE71BA0D9Q34307071-6B245D13-439A-41EF-9F4C-248DE331F2AEQ34395568-2412FFB9-835F-4392-A199-2CA9182C518EQ34458278-6F9E6812-74D7-458E-B884-7E2B27365751Q34460284-E686881B-0A83-4CBF-B89C-5B83095D2E5BQ34468388-DB47DE7E-7D69-480C-B40E-0FFE841038D4Q34472808-FA5CD2DB-0181-4251-B3BF-83D8DADAA91FQ34487018-7DA8BD34-A1DB-4CED-8333-31E898D4F4A5Q34515079-EA69E864-07C2-47F8-A3C2-3E38546C09F4Q34547335-EACABEAA-0DBB-4248-A5C5-B67CCEE53C17Q34549603-DB129441-522B-4ED1-8BB1-81E93B939CF5Q34561932-2CBEB9FB-4281-44F8-9C48-FF96BFA02128Q34625166-729C3ACB-B20A-4400-940F-7EB5E9C86E2DQ34638738-2BEB08AE-6E29-463F-A772-61040AF856A6
P921
description
Erkrankung des zentralen Nervensystems
@de
Human disease
@en
choroba układu nerwowego
@pl
enfermedad respiratoria
@es
malattia dell'apparato respiratorio
@it
مرض يصيب الإنسان
@ar
name
Klątwa Ondyny
@pl
Odines syndrom
@nb
Ondines syndrom
@sv
Ondines vloek
@nl
Ondine的詛咒
@zh
Ondinina kletba
@cs
Undine-Syndrom
@de
congenital central hypoventilation syndrome
@en
ipoventilazione alveolare primitiva
@it
maldição de Ondina
@pt
type
label
Klątwa Ondyny
@pl
Odines syndrom
@nb
Ondines syndrom
@sv
Ondines vloek
@nl
Ondine的詛咒
@zh
Ondinina kletba
@cs
Undine-Syndrom
@de
congenital central hypoventilation syndrome
@en
ipoventilazione alveolare primitiva
@it
maldição de Ondina
@pt
altLabel
CCHS
@en
CCHS
@pl
Ondine curse
@en
Ondine syndrome
@en
Ondine-Syndrom
@de
SHCC
@es
Undine-Fluch-Syndrom
@de
Undines forbanning
@nn
central congenital hypoventilation syndrome
@en
congenital central alveolar hypoventilation syndrome
@en
prefLabel
Klątwa Ondyny
@pl
Odines syndrom
@nb
Ondines syndrom
@sv
Ondines vloek
@nl
Ondine的詛咒
@zh
Ondinina kletba
@cs
Undine-Syndrom
@de
congenital central hypoventilation syndrome
@en
ipoventilazione alveolare primitiva
@it
maldição de Ondina
@pt
P2293
P2888
P486
P6366
P646
P1995
P373
Central hypoventilation syndrome
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2910217125
2910467764
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DOID:0060731