Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal pattern of respiration (HP:0002793)

Parent Node:
Apnea (HP:0002104)

..Starting node
..Sudden episodic apnea (HP:0002882)

Term ID:

2882

Name:

Sudden episodic apnea

Synonym:

Definition:

Recurrent bouts of sudden, severe apnea that may be life-threatening.

Comments:

Reference:

HP:0002882

Genes and Diseases:

Child Nodes:

Sister Nodes:

Apneic episodes in infancy (HP:0005949)

Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)

Central apnea (HP:0002871)

Sleep apnea (HP:0010535)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002882	HP:0002882	Sudden episodic apnea	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	127
HP:0002882	HP:0002882	Sudden episodic apnea	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	405
HP:0002882	HP:0002882	Sudden episodic apnea	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0002882	HP:0002882	Sudden episodic apnea	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	65
HP:0002882	HP:0002882	Sudden episodic apnea	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0002882	HP:0002882	Sudden episodic apnea	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	6
HP:0002882	HP:0002882	Sudden episodic apnea	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0002882	HP:0002882	Sudden episodic apnea	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	5
HP:0002882	HP:0002882	Sudden episodic apnea	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	950
HP:0002882	HP:0002882	Sudden episodic apnea	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0002882	HP:0002882	Sudden episodic apnea	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	1
HP:0002882	HP:0002882	Sudden episodic apnea	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0002882	HP:0002882	Sudden episodic apnea	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	28
HP:0002882	HP:0002882	Sudden episodic apnea	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional	40
HP:0002882	HP:0002882	Sudden episodic apnea	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0002882	HP:0002882	Sudden episodic apnea	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	9
HP:0002882	HP:0002882	Sudden episodic apnea	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	135
HP:0002882	HP:0002882	Sudden episodic apnea	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0002882	HP:0002882	Sudden episodic apnea	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	4
HP:0002882	HP:0002882	Sudden episodic apnea	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2

Genes (19) :AGRN CDKL5 CHAT CHRNE COL13A1 FARS2 GABBR2 MECP2 MYO9A NTNG1 SLC18A3 SLC25A1 SLC25A20 SLC39A8 SLC5A7 SMC1A SNAP25 SYT2 VAMP1

Diseases (7) :ORPHA:98914 ORPHA:3095 OMIM:254210 OMIM:605809 ORPHA:466722 ORPHA:159 ORPHA:468699

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

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