Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Respiratory insufficiency (HP:0002093)help
..Starting node
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Respiratory arrest (HP:0005943)help
Term ID: 5943
Name: Respiratory arrest
Synonym: Breathing cessation
Definition:
Comments:
Reference: HP:0005943
Genes and Diseases:
 
       Child Nodes:
........expandCardiorespiratory arrest (HP:0006543) help

 Sister Nodes: 
..expandIntercostal muscle weakness (HP:0004878) help
..expandNeonatal respiratory distress (HP:0002643) help
..expandobsolete Restrictive deficit on pulmonary function testing (HP:0002111) help
..expandRespiratory failure (HP:0002878) help
..expandRespiratory failure requiring assisted ventilation (HP:0004887) help
..expandRespiratory insufficiency due to defective ciliary clearance (HP:0200073) help
..expandRespiratory insufficiency due to muscle weakness (HP:0002747) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005943HP:0005943Respiratory arrest0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0005943HP:0005943Respiratory arrest0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0005943HP:0005943Respiratory arrest0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0005943HP:0005943Respiratory arrest0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0005943HP:0005943Respiratory arrest0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0005943HP:0005943Respiratory arrest0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0005943HP:0005943Respiratory arrest0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2284
HP:0005943HP:0005943Respiratory arrest0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0005943HP:0005943Respiratory arrest0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0005943HP:0005943Respiratory arrest0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0005943HP:0005943Respiratory arrest0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0005943HP:0005943Respiratory arrest0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0005943HP:0005943Respiratory arrest0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0005943HP:0005943Respiratory arrest0KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosis327
HP:0005943HP:0005943Respiratory arrest0LAMP2 CL E G H39206501ORPHA:34587Glycogen storage disease due to LAMP-2 deficiency211
HP:0005943HP:0005943Respiratory arrest0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0005943HP:0005943Respiratory arrest0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0005943HP:0005943Respiratory arrest0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0005943HP:0005943Respiratory arrest0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare28
HP:0005943HP:0005943Respiratory arrest0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0005943HP:0005943Respiratory arrest0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0005943HP:0005943Respiratory arrest0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare9
HP:0005943HP:0005943Respiratory arrest0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 381
HP:0005943HP:0005943Respiratory arrest0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0005943HP:0005943Respiratory arrest0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare4
HP:0005943HP:0005943Respiratory arrest0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0005943HP:0005943Respiratory arrest0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0005943HP:0005943Respiratory arrest0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0005943HP:0006543Cardiorespiratory arrest1B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0005943HP:0006543Cardiorespiratory arrest1COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040283 - Occasional284
HP:0005943HP:0006543Cardiorespiratory arrest1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0005943HP:0006543Cardiorespiratory arrest1EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0005943HP:0006543Cardiorespiratory arrest1GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0005943HP:0006543Cardiorespiratory arrest1KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosisHP:0040283 - Occasional327
HP:0005943HP:0006543Cardiorespiratory arrest1LAMP2 CL E G H39206501ORPHA:34587Glycogen storage disease due to LAMP-2 deficiencyHP:0040281 - Very frequent211
HP:0005943HP:0006543Cardiorespiratory arrest1MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0005943HP:0006543Cardiorespiratory arrest1SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0005943HP:0006543Cardiorespiratory arrest1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0005943HP:0006543Cardiorespiratory arrest1TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.HP:0003593 - Infantile onset1
HP:0005943HP:0006543Cardiorespiratory arrest1TXNDC15 CL E G H7977020652OMIM:6198792


Genes (28) :ACADVL AFF3 AGRN B3GALT6 CHAT COL13A1 COL2A1 CPT2 DCTN1 DDC EXOC6B GPX4 HTRA2 KIT LAMP2 MYL2 MYO9A SLC18A3 SLC25A1 SLC25A20 SLC2A10 SLC5A7 SLC6A5 SNAP25 SYT2 TSPYL1 TXNDC15 VAMP1

Diseases (18) :OMIM:201475 OMIM:619297 ORPHA:98914 ORPHA:93359 ORPHA:93296 OMIM:600649 OMIM:168605 OMIM:608643 ORPHA:93317 OMIM:617248 ORPHA:280785 ORPHA:34587 OMIM:619424 OMIM:212138 ORPHA:3342 OMIM:614618 OMIM:608800 OMIM:619879
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.