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
..Obstructive sleep apnea (HP:0002870)

Term ID:

2870

Name:

Obstructive sleep apnea

Synonym:

Obstructive sleep apnoea

Definition:

A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.

Comments:

Reference:

HP:0002870

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central sleep apnea (HP:0010536)

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:0002870	HP:0002870	Obstructive sleep apnea	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	127
HP:0002870	HP:0002870	Obstructive sleep apnea	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent	36
HP:0002870	HP:0002870	Obstructive sleep apnea	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0002870	HP:0002870	Obstructive sleep apnea	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0002870	HP:0002870	Obstructive sleep apnea	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0002870	HP:0002870	Obstructive sleep apnea	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	HP:0040284 - Very rare	16
HP:0002870	HP:0002870	Obstructive sleep apnea	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0002870	HP:0002870	Obstructive sleep apnea	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	65
HP:0002870	HP:0002870	Obstructive sleep apnea	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	6
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0002870	HP:0002870	Obstructive sleep apnea	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0002870	HP:0002870	Obstructive sleep apnea	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002870	HP:0002870	Obstructive sleep apnea	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0002870	HP:0002870	Obstructive sleep apnea	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0002870	HP:0002870	Obstructive sleep apnea	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	HP:0040283 - Occasional	41
HP:0002870	HP:0002870	Obstructive sleep apnea	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002870	HP:0002870	Obstructive sleep apnea	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0002870	HP:0002870	Obstructive sleep apnea	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002870	HP:0002870	Obstructive sleep apnea	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0002870	HP:0002870	Obstructive sleep apnea	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0002870	HP:0002870	Obstructive sleep apnea	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002870	HP:0002870	Obstructive sleep apnea	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0002870	HP:0002870	Obstructive sleep apnea	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002870	HP:0002870	Obstructive sleep apnea	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002870	HP:0002870	Obstructive sleep apnea	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0002870	HP:0002870	Obstructive sleep apnea	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent	240
HP:0002870	HP:0002870	Obstructive sleep apnea	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0002870	HP:0002870	Obstructive sleep apnea	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0002870	HP:0002870	Obstructive sleep apnea	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002870	HP:0002870	Obstructive sleep apnea	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0002870	HP:0002870	Obstructive sleep apnea	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0002870	HP:0002870	Obstructive sleep apnea	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0002870	HP:0002870	Obstructive sleep apnea	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0002870	HP:0002870	Obstructive 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:0002870	HP:0002870	Obstructive sleep apnea	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0002870	HP:0002870	Obstructive sleep apnea	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0002870	HP:0002870	Obstructive sleep apnea	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	63
HP:0002870	HP:0002870	Obstructive sleep apnea	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	63
HP:0002870	HP:0002870	Obstructive sleep apnea	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0002870	HP:0002870	Obstructive sleep apnea	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0002870	HP:0002870	Obstructive sleep apnea	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		1
HP:0002870	HP:0002870	Obstructive sleep apnea	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0002870	HP:0002870	Obstructive sleep apnea	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0002870	HP:0002870	Obstructive sleep apnea	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0002870	HP:0002870	Obstructive sleep apnea	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0002870	HP:0002870	Obstructive sleep apnea	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0002870	HP:0002870	Obstructive sleep apnea	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0002870	HP:0002870	Obstructive sleep apnea	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002870	HP:0002870	Obstructive sleep apnea	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0002870	HP:0002870	Obstructive sleep apnea	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	121
HP:0002870	HP:0002870	Obstructive sleep apnea	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	121
HP:0002870	HP:0002870	Obstructive sleep apnea	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002870	HP:0002870	Obstructive 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:0002870	HP:0002870	Obstructive sleep apnea	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0002870	HP:0002870	Obstructive sleep apnea	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0002870	HP:0002870	Obstructive sleep apnea	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0002870	HP:0002870	Obstructive sleep apnea	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0002870	HP:0002870	Obstructive sleep apnea	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional	177
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	28
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	9
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	37
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	37
HP:0002870	HP:0002870	Obstructive sleep apnea	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	4
HP:0002870	HP:0002870	Obstructive sleep apnea	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0002870	HP:0002870	Obstructive sleep apnea	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0002870	HP:0002870	Obstructive sleep apnea	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23
HP:0002870	HP:0002870	Obstructive sleep apnea	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0002870	HP:0002870	Obstructive sleep apnea	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC

Genes (66) :AGRN AHDC1 ARCN1 ASXL1 ATN1 BICD2 BMP2 CA2 CACNA1C CCDC47 CDC42BPB CHAMP1 CHAT COL13A1 CREBBP CTSK DDB1 DMD DNA2 DPH5 EDN1 EP300 EXOC2 FBXO28 FGFR3 FXR1 GNAI3 GNPTAB GRB10 GUSB H4C5 HRAS IDS IDUA LRPPRC MAGEL2 MCM3AP MYO9A NACC1 NALCN NDN NFIX NGLY1 NONO OCA2 PCGF2 PIGT PLCB4 POGZ PRKAR1B PRR12 SATB2 SH3BP2 SIM1 SKI SLC18A3 SLC25A1 SLC5A7 SNAP25 SNRPN SYT2 TERT TRPV4 UNC80 VAMP1 ZMYM2

Diseases (61) :ORPHA:98914 ORPHA:412069 OMIM:615829 OMIM:617164 ORPHA:97297 OMIM:618494 OMIM:615290 OMIM:617877 ORPHA:2785 OMIM:620029 OMIM:618268 OMIM:619841 OMIM:616579 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:763 OMIM:619426 OMIM:310200 ORPHA:352470 OMIM:615156 OMIM:620070 ORPHA:137888 ORPHA:353284 OMIM:619306 OMIM:619777 ORPHA:15 OMIM:618823 OMIM:618822 ORPHA:576 ORPHA:96182 OMIM:253220 OMIM:619950 OMIM:218040 OMIM:309900 OMIM:607015 OMIM:607016 ORPHA:70472 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:618124 OMIM:617393 ORPHA:371364 OMIM:602535 ORPHA:404454 ORPHA:466791 OMIM:618371 ORPHA:369837 ORPHA:468678 OMIM:616364 OMIM:619680 OMIM:619539 ORPHA:251028 ORPHA:184 ORPHA:398079 OMIM:182212 OMIM:614742 OMIM:606071 OMIM:619522

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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