Human Phenotype Ontology 
Grandparent Node:
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Abnormal pattern of respiration (HP:0002793)help
Parent Node:
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Hypoventilation (HP:0002791)help
..Starting node
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Nocturnal hypoventilation (HP:0002877)help
Term ID: 2877
Name: Nocturnal hypoventilation
Synonym: Hypoventilation during sleep; Nocturnal hypopnea; Nocturnal slow breathing; Nocturnal under breathing
Definition: An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.
Comments:
Reference: HP:0002877
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCentral hypoventilation (HP:0007110) help
..expandEpisodic hypoventilation (HP:0004881) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002877HP:0002877Nocturnal hypoventilation0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0002877HP:0002877Nocturnal hypoventilation0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0002877HP:0002877Nocturnal hypoventilation0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0002877HP:0002877Nocturnal hypoventilation0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0002877HP:0002877Nocturnal hypoventilation0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0002877HP:0002877Nocturnal hypoventilation0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0002877HP:0002877Nocturnal hypoventilation0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0002877HP:0002877Nocturnal hypoventilation0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0002877HP:0002877Nocturnal hypoventilation0MYH7 CL E G H4625324604ORPHA132927577160760
HP:0002877HP:0002877Nocturnal hypoventilation0MYH7 CL E G H4625324604ORPHA129607577160760
HP:0002877HP:0002877Nocturnal hypoventilation0SELENON CL E G H57190324604ORPHA150515999606210
HP:0002877HP:0002877Nocturnal hypoventilation0SELENON CL E G H57190324604ORPHA145415999606210
HP:0002877HP:0002877Nocturnal hypoventilation0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM150515999606210
HP:0002877HP:0002877Nocturnal hypoventilation0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM145415999606210
HP:0002877HP:0002877Nocturnal hypoventilation0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM136316187613350
HP:0002877HP:0002877Nocturnal hypoventilation0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM131416187613350
HP:0002877HP:0002877Nocturnal hypoventilation0TTN CL E G H7273324604ORPHA11902812403188840
HP:0002877HP:0002877Nocturnal hypoventilation0TTN CL E G H7273324604ORPHA11798412403188840
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002877HP:0002877Nocturnal hypoventilation0ACTA1 CL E G H58171436ORPHA0362129102610
HP:0002877HP:0002877Nocturnal hypoventilation0ACTA1 CL E G H58171436ORPHA0325129102610
HP:0002877HP:0002877Nocturnal hypoventilation0CFL2 CL E G H1073171436ORPHA01391875601443
HP:0002877HP:0002877Nocturnal hypoventilation0CFL2 CL E G H1073171436ORPHA01281875601443
HP:0002877HP:0002877Nocturnal hypoventilation0KLHL41 CL E G H10324171436ORPHA019916905607701
HP:0002877HP:0002877Nocturnal hypoventilation0KLHL41 CL E G H10324171436ORPHA015716905607701
HP:0002877HP:0002877Nocturnal hypoventilation0LMOD3 CL E G H56203171436ORPHA03086649616112
HP:0002877HP:0002877Nocturnal hypoventilation0LMOD3 CL E G H56203171436ORPHA02406649616112
HP:0002877HP:0002877Nocturnal hypoventilation0NEB CL E G H4703171436ORPHA053137720161650
HP:0002877HP:0002877Nocturnal hypoventilation0NEB CL E G H4703171436ORPHA046747720161650
HP:0002877HP:0002877Nocturnal hypoventilation0TPM2 CL E G H7169171436ORPHA024212011190990
HP:0002877HP:0002877Nocturnal hypoventilation0TPM2 CL E G H7169171436ORPHA023412011190990


Genes (14) :ACTA1 CFL2 COL6A1 COL6A2 COL6A3 FKRP KLHL41 LMOD3 MYH7 NEB SELENON SLC52A3 TPM2 TTN

Diseases (6) :171436 254090 607155 324604 602771 211530
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.