Human Phenotype Ontology

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:0002791	HP:0002791	Hypoventilation	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0002791	HP:0002791	Hypoventilation	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome		15
HP:0002791	HP:0002791	Hypoventilation	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0002791	HP:0002791	Hypoventilation	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0002791	HP:0002791	Hypoventilation	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0002791	HP:0002791	Hypoventilation	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0002791	HP:0002791	Hypoventilation	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0002791	HP:0002791	Hypoventilation	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0002791	HP:0002791	Hypoventilation	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0002791	HP:0002791	Hypoventilation	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0002791	HP:0002791	Hypoventilation	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0002791	HP:0002791	Hypoventilation	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	90
HP:0002791	HP:0002791	Hypoventilation	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0002791	HP:0002791	Hypoventilation	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome		86
HP:0002791	HP:0002791	Hypoventilation	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0002791	HP:0002791	Hypoventilation	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0002791	HP:0002791	Hypoventilation	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0002791	HP:0002791	Hypoventilation	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0002791	HP:0002791	Hypoventilation	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0002791	HP:0002791	Hypoventilation	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0002791	HP:0002791	Hypoventilation	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:0002791	HP:0002791	Hypoventilation	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0002791	HP:0002791	Hypoventilation	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0002791	HP:0002791	Hypoventilation	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0002791	HP:0002791	Hypoventilation	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	92
HP:0002791	HP:0002791	Hypoventilation	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002791	HP:0002791	Hypoventilation	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0002791	HP:0002791	Hypoventilation	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0002791	HP:0002791	Hypoventilation	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations		950
HP:0002791	HP:0002791	Hypoventilation	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0002791	HP:0002791	Hypoventilation	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0002791	HP:0002791	Hypoventilation	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0002791	HP:0002791	Hypoventilation	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0002791	HP:0002791	Hypoventilation	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0002791	HP:0002791	Hypoventilation	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002791	HP:0002791	Hypoventilation	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0002791	HP:0002791	Hypoventilation	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10		26
HP:0002791	HP:0002791	Hypoventilation	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy		31
HP:0002791	HP:0002791	Hypoventilation	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002791	HP:0002791	Hypoventilation	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy		65
HP:0002791	HP:0002791	Hypoventilation	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.	21
HP:0002791	HP:0002791	Hypoventilation	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0002791	HP:0002791	Hypoventilation	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0002791	HP:0002791	Hypoventilation	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0002791	HP:0002791	Hypoventilation	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0002791	HP:0002791	Hypoventilation	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome		86
HP:0002791	HP:0002791	Hypoventilation	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0002791	HP:0002791	Hypoventilation	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional	53
HP:0002791	HP:0002791	Hypoventilation	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0002791	HP:0002791	Hypoventilation	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0002791	HP:0002791	Hypoventilation	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome		572
HP:0002791	HP:0002791	Hypoventilation	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy		40
HP:0002791	HP:0002791	Hypoventilation	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0002791	HP:0002791	Hypoventilation	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0002791	HP:0002791	Hypoventilation	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0002791	HP:0002791	Hypoventilation	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0002791	HP:0002791	Hypoventilation	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.	9
HP:0002791	HP:0002791	Hypoventilation	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0002791	HP:0002791	Hypoventilation	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0002791	HP:0002791	Hypoventilation	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy		73
HP:0002791	HP:0002791	Hypoventilation	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0002791	HP:0002791	Hypoventilation	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0002791	HP:0002791	Hypoventilation	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0002791	HP:0002791	Hypoventilation	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0002791	HP:0002791	Hypoventilation	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0002791	HP:0004881	Episodic hypoventilation	1	CL E G H
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0002791	HP:0007110	Central hypoventilation	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	15
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0002791	HP:0007110	Central hypoventilation	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0002791	HP:0007110	Central hypoventilation	1	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent	86
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0002791	HP:0007110	Central hypoventilation	1	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0002791	HP:0007110	Central hypoventilation	1	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0002791	HP:0007110	Central hypoventilation	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0002791	HP:0007110	Central hypoventilation	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0002791	HP:0007110	Central hypoventilation	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.	26
HP:0002791	HP:0007110	Central hypoventilation	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0002791	HP:0007110	Central hypoventilation	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002791	HP:0007110	Central hypoventilation	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0002791	HP:0007110	Central hypoventilation	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0002791	HP:0007110	Central hypoventilation	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	86
HP:0002791	HP:0007110	Central hypoventilation	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	572
HP:0002791	HP:0007110	Central hypoventilation	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0002791	HP:0007110	Central hypoventilation	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0002791	HP:0007110	Central hypoventilation	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0002791	HP:0007110	Central hypoventilation	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0002791	HP:0002877	Nocturnal hypoventilation	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128