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 myocardium morphology (HP:0001637)

Parent Node:
Cardiomyopathy (HP:0001638)

..Starting node
..Hypertrophic cardiomyopathy (HP:0001639)

Term ID:

1639

Name:

Hypertrophic cardiomyopathy

Synonym:

Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM

Definition:

Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

Comments:

Reference:

HP:0001639

Genes and Diseases:

Child Nodes:

........

Asymmetric septal hypertrophy (HP:0001670)

........

Concentric hypertrophic cardiomyopathy (HP:0005157)

Sister Nodes:

Atrial cardiomyopathy (HP:0200127)

Dilated cardiomyopathy (HP:0001644)

Histiocytoid cardiomyopathy (HP:0005152)

Noncompaction cardiomyopathy (HP:0012817)

Restrictive cardiomyopathy (HP:0001723)

Right ventricular cardiomyopathy (HP:0011663)

Takotsubo cardiomyopathy (HP:0011665)

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:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.	143
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional	245
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional	254
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.	98
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11	.	208
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent	82
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional	32
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	HP:0040283 - Occasional	5
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3	.
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1		148
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	.	2
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040283 - Occasional	24
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	6
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040283 - Occasional	99
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12		104
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.	89
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	.	67
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	197
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	HP:0040284 - Very rare	61
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	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:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional	5
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040281 - Very frequent	30
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	41
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	99
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	11
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type	HP:0040281 - Very frequent	19
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent	229
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17		111
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional	127
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional	23
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	HP:0040283 - Occasional	42
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency	HP:0040281 - Very frequent	211
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.	31
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	645
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional	645
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	94
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.	7
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	26
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.	13
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.	39
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1		452
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14	.	452
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1		1269
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.	131
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1		124
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040283 - Occasional	217
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	217
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040283 - Occasional	47
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	HP:0040282 - Frequent	47
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB		72
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.	91
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	HP:0040284 - Very rare	32
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.	19
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.	40
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	HP:0040284 - Very rare	50
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	3
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.	42
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	HP:0040284 - Very rare	27
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20		167
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	13
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18		57
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	HP:0040283 - Occasional	8
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	9
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040284 - Very rare	71
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional	166
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	74
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040281 - Very frequent	35
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent	68
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.	68
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	HP:0040283 - Occasional	68
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	HP:0040283 - Occasional	135
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	45
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	1129
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	508
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.	2
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25		78
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	HP:0040283 - Occasional	23
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.	4
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	171
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.	73
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7		180
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	180
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2	.	248
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	248
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency	HP:0040283 - Occasional	28
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3	.	230
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040281 - Very frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TTN CL E G H	7273	12403	OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9		7128
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional	62
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	85
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15	.	248
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001639	HP:0001639	Hypertrophic cardiomyopathy	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	HP:0040283 - Occasional	45
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	148
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent	263
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001639	HP:0031992	Apical hypertrophic cardiomyopathy	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	452
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	1269
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.	131
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	124
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	HP:0040283 - Occasional	81
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0001639	HP:0001670	Asymmetric septal hypertrophy	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0001639	HP:0031992	Apical hypertrophic cardiomyopathy	1	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7		180
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001639	HP:0005157	Concentric hypertrophic cardiomyopathy	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0001639	HP:0031992	Apical hypertrophic cardiomyopathy	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248

Genes (293) :AARS2 ABCC8 ABCC9 ACAD9 ACADVL ACTC1 ACTN2 ADAR AGK AGPAT2 AIP ALPK3 ANKS6 ATAD3A ATP5F1E ATP5MK ATP6 ATP6V1A BAG3 BAZ1B BCL7B BCS1L BOLA3 BRAF BRCA1 BRCA2 BRIP1 BSCL2 BUD23 CAV1 CAV3 CAVIN1 CLIP2 CLN3 COA5 COA6 COA8 COQ2 COQ4 COX1 COX14 COX15 COX2 COX3 COX6B1 COX7B CPT1A CRYAB CSRP3 DES DHCR7 DLD DLK1 DNAJC30 ECHS1 EIF4H ELAC2 ELN EMD ERCC4 FAH FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FASTKD2 FBXL4 FHL1 FHOD3 FKBP6 FLNC FNIP1 FOS FOXRED1 FTO FXN GAA GATA4 GLA GLB1 GNPTAB GNS GPR101 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 HADH HADHA HCCS HGSNAT HLA-B HRAS HSD17B10 IFIH1 IL12B INSR JPH2 KCNJ11 KCNJ8 KIF20A KLF1 KRAS LAMP2 LIAS LIMK1 LIPT1 LMNA LRP12 LRPPRC LSM11 LZTR1 MAD2L2 MAP2K1 MAP2K2 MC2R MEG3 MEN1 METTL27 MICOS13 MIPEP MLX MLXIPL MRAP MRAS MRPL3 MRPL44 MRPS14 MRPS22 MTFMT MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYOZ2 MYPN NAGA NAGLU NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NEXN NF1 NFS1 NNT NRAS NUBPL OPA1 PALB2 PDHA1 PET100 PLN PMM2 PPA2 PPARG PPP1CB PPP1R21 PRKAG2 PRUNE1 PTPN11 PYGL PYGM QRSL1 RAD51 RAD51C RAF1 RFC2 RFWD3 RIT1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RTL1 SAMHD1 SARDH SCO2 SDHA SDHAF1 SDHB SDHD SGSH SHMT2 SHOC2 SLC19A3 SLC22A5 SLC25A3 SLC25A4 SLC2A10 SLC30A10 SLX4 SMC1A SOS1 SPRED2 STAR STX1A SUCLG1 SUFU SURF1 SYNE1 SYNE2 TACO1 TAFAZZIN TANGO2 TAPT1 TBL2 TCAP TGFB1 TIMMDC1 TKFC TMEM126A TMEM126B TMEM270 TMEM43 TMEM70 TNNC1 TNNI3 TNNT2 TPI1 TPM1 TREX1 TRMT5 TRNE TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNV TRNW TSFM TTN TTPA TTR TULP3 TXNRD2 UBE2T UCP2 UQCRFS1 VARS2 VCL VPS33A VPS37D XRCC2 YARS2

Diseases (207) :OMIM:614096 ORPHA:276575 ORPHA:1517 ORPHA:99901 OMIM:611126 OMIM:201475 OMIM:612098 OMIM:612158 ORPHA:51 ORPHA:1369 OMIM:212350 ORPHA:528 ORPHA:963 ORPHA:99725 OMIM:618052 OMIM:615382 OMIM:617183 ORPHA:496790 OMIM:618810 OMIM:614053 OMIM:618683 ORPHA:255210 OMIM:617403 OMIM:612954 ORPHA:904 OMIM:124000 OMIM:614299 ORPHA:1340 OMIM:115150 OMIM:163950 ORPHA:500 ORPHA:84 OMIM:269700 OMIM:192600 OMIM:204200 OMIM:616500 OMIM:616501 ORPHA:436271 OMIM:607426 OMIM:616276 ORPHA:550 OMIM:619053 ORPHA:255241 OMIM:619051 ORPHA:2556 ORPHA:156 OMIM:608810 OMIM:612124 ORPHA:98909 OMIM:601419 OMIM:270400 OMIM:246900 ORPHA:96334 OMIM:616277 OMIM:615440 ORPHA:98863 OMIM:276700 OMIM:618855 OMIM:615471 OMIM:300696 OMIM:300280 OMIM:619402 OMIM:617047 ORPHA:75249 OMIM:619705 ORPHA:2609 OMIM:618241 OMIM:612938 OMIM:229300 ORPHA:308552 ORPHA:251071 ORPHA:324 OMIM:230500 OMIM:252500 OMIM:252940 ORPHA:444013 OMIM:231530 ORPHA:71212 ORPHA:5 OMIM:252930 ORPHA:3287 OMIM:218040 ORPHA:3071 ORPHA:391428 ORPHA:391457 OMIM:300438 OMIM:615846 ORPHA:508 OMIM:613873 ORPHA:276580 OMIM:613673 OMIM:609942 OMIM:600268 OMIM:300257 ORPHA:34587 OMIM:614462 ORPHA:98853 ORPHA:280365 ORPHA:2348 OMIM:164310 ORPHA:70472 OMIM:616564 OMIM:605275 OMIM:615279 ORPHA:638 ORPHA:361 OMIM:618329 OMIM:617228 OMIM:618499 OMIM:614582 OMIM:615395 OMIM:618378 OMIM:611719 OMIM:614702 OMIM:115197 OMIM:613251 OMIM:255160 OMIM:608758 OMIM:619424 OMIM:608751 OMIM:613838 OMIM:615248 ORPHA:79279 ORPHA:79281 OMIM:252920 OMIM:618243 OMIM:618236 OMIM:618235 OMIM:618234 ORPHA:70474 OMIM:618237 OMIM:620135 OMIM:618228 OMIM:252010 OMIM:618222 OMIM:618229 OMIM:615415 OMIM:613876 ORPHA:97685 ORPHA:363700 OMIM:619386 OMIM:613224 OMIM:616896 OMIM:613874 ORPHA:79318 OMIM:617222 ORPHA:79083 ORPHA:2701 OMIM:619383 OMIM:600858 ORPHA:544469 OMIM:151100 ORPHA:369 ORPHA:368 OMIM:618835 OMIM:611554 OMIM:611553 OMIM:615355 ORPHA:3129 OMIM:604377 ORPHA:3208 OMIM:252011 OMIM:252900 OMIM:619121 OMIM:607721 OMIM:212140 ORPHA:91130 OMIM:610773 OMIM:615418 OMIM:617184 ORPHA:3342 ORPHA:309854 OMIM:300590 OMIM:610733 OMIM:619745 ORPHA:17 OMIM:617757 OMIM:220110 OMIM:302060 OMIM:616878 OMIM:616897 OMIM:607487 ORPHA:1328 OMIM:612989 OMIM:618250 OMIM:614052 ORPHA:1194 OMIM:613243 OMIM:613690 OMIM:115195 ORPHA:868 OMIM:115196 OMIM:616539 ORPHA:225 ORPHA:1349 OMIM:610505 OMIM:613765 ORPHA:96 ORPHA:85451 OMIM:619902 ORPHA:276556 OMIM:618775 OMIM:615917 OMIM:613255 ORPHA:505248 OMIM:617303 OMIM:613561

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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