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 cardiac ventricle morphology (HP:0001713)

Parent Node:
Abnormal left ventricle morphology (HP:0001711)

Parent Node:
Ventricular hypertrophy (HP:0001714)

..Starting node
..Left ventricular hypertrophy (HP:0001712)

Term ID:

1712

Name:

Left ventricular hypertrophy

Synonym:

Heart left ventricle hypertrophy; Left ventricular wall hypertrophy

Definition:

Enlargement or increased size of the heart left ventricle.

Comments:

Reference:

HP:0001712

Genes and Diseases:

Child Nodes:

........

Congenital hypertrophy of left ventricle (HP:0005129)

Sister Nodes:

Biventricular hypertrophy (HP:0200128)

Right ventricular hypertrophy (HP:0001667)

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:0001712	HP:0001712	Left ventricular hypertrophy	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional	191
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	HP:0040283 - Occasional	208
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	HP:0040283 - Occasional	307
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040283 - Occasional	2
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.	51
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.	1
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040283 - Occasional	257
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M		33
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040284 - Very rare	17
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle	.	52
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional	185
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040283 - Occasional	14
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17	.	111
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional	128
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	HP:0040283 - Occasional	286
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.	131
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.	95
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	.	81
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040283 - Occasional	217
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20	.	167
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional	90
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18	.	57
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional	213
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	HP:0040283 - Occasional	221
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10	HP:0040283 - Occasional	1134
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25	HP:0040283 - Occasional	78
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1		180
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	HP:0040283 - Occasional	248
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	HP:0040283 - Occasional	21
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	HP:0040283 - Occasional	3
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0001712	HP:0001712	Left ventricular hypertrophy	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	HP:0040283 - Occasional	2
HP:0001712	HP:0005129	Congenital hypertrophy of left ventricle	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254

Genes (104) :ABCA1 ABCC9 ACTC1 ACTN2 ADAM17 AIP ARL6 ARSK ATP6AP2 B3GAT3 BBS1 BIN1 C1QBP CACNA1D CCDC28B CHST3 CLN3 COG1 COL1A2 COQ7 COQ9 COX1 COX16 COX2 COX3 CYTB DMD DTNA EGFR EPG5 ESPN FKRP GAA GLA GLRX5 GNPTAB GTPBP3 GYS1 HADHA HADHB HCN4 HSD11B2 JPH2 KCNJ5 LDB3 LZTR1 MEN1 MOGS MTX2 MYH6 MYL2 MYL3 MYOZ2 MYPN NAXD ND1 ND5 ND6 NEXN NKX2-5 NONO PLN POLG POLG2 POMT1 POMT2 PSEN1 PSEN2 RIT1 RNU7-1 RRM2B RYR1 SCN5A SCO1 SDHA SDHAF1 SDHB SDHD SLC25A24 SLC25A4 SMAD3 SPEG SVIL TCAP TLL1 TNNI3 TNNT2 TPK1 TRMT10C TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TTN TTR TWNK WDR35 ZNF462 ZNF687

Diseases (80) :OMIM:205400 ORPHA:31150 OMIM:239850 OMIM:613424 OMIM:612098 OMIM:612158 ORPHA:294023 OMIM:102200 ORPHA:99725 OMIM:209900 OMIM:619698 ORPHA:93952 OMIM:245600 ORPHA:169186 OMIM:617713 OMIM:615474 ORPHA:228346 OMIM:611209 ORPHA:230851 OMIM:616733 OMIM:614654 OMIM:540000 OMIM:619355 ORPHA:206546 OMIM:604169 OMIM:242840 OMIM:618632 OMIM:613153 ORPHA:308552 ORPHA:324 OMIM:301500 ORPHA:401866 ORPHA:576 ORPHA:444013 OMIM:611556 ORPHA:746 OMIM:163800 ORPHA:320 OMIM:613873 ORPHA:251274 OMIM:601493 OMIM:616564 ORPHA:79330 OMIM:619127 OMIM:613251 OMIM:608758 OMIM:608751 OMIM:613838 OMIM:615248 OMIM:618321 OMIM:613876 OMIM:108900 ORPHA:466791 OMIM:613874 ORPHA:254892 ORPHA:86812 OMIM:613156 OMIM:613694 OMIM:613697 OMIM:615355 OMIM:619487 OMIM:614022 OMIM:619048 ORPHA:3208 OMIM:619167 OMIM:612289 OMIM:615418 ORPHA:284984 OMIM:613795 OMIM:619040 OMIM:607487 ORPHA:99106 OMIM:115210 OMIM:601494 OMIM:614458 OMIM:616974 ORPHA:85451 OMIM:613610 OMIM:618619 OMIM:616833

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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