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:
Apnea (HP:0002104)

Grandparent Node:
Sleep disturbance (HP:0002360)

Parent Node:
Sleep apnea (HP:0010535)

..Starting node
..Central sleep apnea (HP:0010536)

Term ID:

10536

Name:

Central sleep apnea

Synonym:

Central sleep apnoea

Definition:

Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.

Comments:

Reference:

HP:0010536

Genes and Diseases:

Child Nodes:

Sister Nodes:

Obstructive sleep apnea (HP:0002870)

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:0010536	HP:0010536	Central sleep apnea	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0010536	HP:0010536	Central sleep apnea	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	15
HP:0010536	HP:0010536	Central sleep apnea	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0010536	HP:0010536	Central sleep apnea	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0010536	HP:0010536	Central sleep apnea	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0010536	HP:0010536	Central sleep apnea	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0010536	HP:0010536	Central sleep apnea	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0010536	HP:0010536	Central sleep apnea	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0010536	HP:0010536	Central sleep apnea	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0010536	HP:0010536	Central sleep apnea	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0010536	HP:0010536	Central sleep apnea	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0010536	HP:0010536	Central sleep apnea	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0010536	HP:0010536	Central sleep apnea	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional	191
HP:0010536	HP:0010536	Central sleep apnea	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0010536	HP:0010536	Central sleep apnea	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0010536	HP:0010536	Central sleep apnea	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0010536	HP:0010536	Central sleep apnea	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010536	HP:0010536	Central sleep apnea	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	86
HP:0010536	HP:0010536	Central sleep apnea	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0010536	HP:0010536	Central sleep apnea	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional	49
HP:0010536	HP:0010536	Central sleep apnea	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	572
HP:0010536	HP:0010536	Central sleep apnea	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0010536	HP:0010536	Central sleep apnea	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0010536	HP:0010536	Central sleep apnea	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0010536	HP:0010536	Central sleep apnea	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0010536	HP:0010536	Central sleep apnea	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0010536	HP:0010536	Central sleep apnea	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0010536	HP:0010536	Central sleep apnea	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0010536	HP:0010536	Central sleep apnea	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2

Genes (28) :AGRN ASCL1 CACNA1C CCDC47 CDK13 CHAT COL13A1 COQ2 DKK1 FBXO28 FGFR3 LRPPRC MAGEL2 MYO9A NADK2 NGLY1 PHOX2B PIGT PRPS1 RET SIM1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 USP7 VAMP1

Diseases (18) :ORPHA:98914 ORPHA:99803 OMIM:620029 OMIM:618268 OMIM:617360 ORPHA:227510 ORPHA:98933 ORPHA:268882 OMIM:619777 ORPHA:15 ORPHA:70472 ORPHA:398069 ORPHA:431361 OMIM:615273 ORPHA:369837 ORPHA:423479 ORPHA:398079 OMIM:616863

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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