Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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
..Dilated cardiomyopathy (HP:0001644)

Term ID:

1644

Name:

Dilated cardiomyopathy

Synonym:

Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle

Definition:

Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.

Comments:

Reference:

HP:0001644

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrial cardiomyopathy (HP:0200127)

Histiocytoid cardiomyopathy (HP:0005152)

Hypertrophic cardiomyopathy (HP:0001639)

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1507	60	601439
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACAD8 CL E G H	27034	611283	Deficiency of isobutyryl-CoA dehydrogenase	611283	C1969809	OMIM	1	338	87	604773
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACAD9 CL E G H	28976	99901				ORPHA	1	771	21497	611103
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTC1 CL E G H	70	613424	Dilated cardiomyopathy 1R	613424	C3150681	OMIM	1	672	143	102540
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	1	672	143	102540
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTN2 CL E G H	88	612158	Dilated cardiomyopathy 1AA	612158	C2677338	OMIM	1	1361	164	102573
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1361	164	102573
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ALMS1 CL E G H	7840	64				ORPHA	1	5525	428	606844
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	1	442	15819	609599
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BAG3 CL E G H	9531	613881	Dilated cardiomyopathy 1HH	613881	C3151293	OMIM	1	986	939	603883
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	1	986	939	603883
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	102	24415	613183
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COX7B CL E G H	1349	2556				ORPHA	1	181	2291	300885
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	876	2330	600650
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	876	2330	600650
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CRYAB CL E G H	1410	615184	Dilated cardiomyopathy 1II	615184	C3554649	OMIM	1	273	2389	123590
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	1	273	2389	123590
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CSRP3 CL E G H	8048	607482	Dilated cardiomyopathy 1M	607482	C1843808	OMIM	1	407	2472	600824
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	1	407	2472	600824
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DES CL E G H	1674	604765	Dilated cardiomyopathy 1I	604765	C1858154	OMIM	1	976	2770	125660
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	1	976	2770	125660
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DMD CL E G H	1756	302045	Dilated cardiomyopathy 3B	302045	C3668940	OMIM	1	8184	2928	300377
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	1	8184	2928	300377
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DNAJC19 CL E G H	131118	66634				ORPHA	1	142	30528	608977
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DNAJC19 CL E G H	131118	610198	3-methylglutaconic aciduria type V	610198	C1857776	OMIM	1	142	30528	608977
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DOLK CL E G H	22845	610768	Congenital disorder of glycosylation type 1M	610768	C1835849	OMIM	1	521	23406	610746
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	1	521	23406	610746
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DPM3 CL E G H	54344	263494				ORPHA	1	75	3007	605951
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	75	3007	605951
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSG2 CL E G H	1829	612877	Dilated cardiomyopathy 1BB	612877	C2752072	OMIM	1	1570	3049	125671
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1570	3049	125671
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSP CL E G H	1832	65282				ORPHA	1	3932	3052	125647
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSP CL E G H	1832	615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	615821	C4014393	OMIM	1	3932	3052	125647
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSP CL E G H	1832	605676	Dilated cardiomyopathy with woolly hair and keratoderma	605676	C1854063	OMIM	1	3932	3052	125647
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	EYA4 CL E G H	2070	217622				ORPHA	1	837	3522	603550
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	EYA4 CL E G H	2070	605362	Dilated cardiomyopathy 1J	605362	C1854368	OMIM	1	837	3522	603550
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	1	200	3703	602633
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	914	3622	607440
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	1	914	3622	607440
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GATAD1 CL E G H	57798	614672	Cardiomyopathy, dilated, 2b	614672	C3553409	OMIM	1	618	29941	614518
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	1	618	29941	614518
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GLB1 CL E G H	2720	230500	Infantile GM1 gangliosidosis	230500	C0268271	OMIM	1	937	4298	611458
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HAMP CL E G H	57817	79230				ORPHA	1	67	15598	606464
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HCCS CL E G H	3052	2556				ORPHA	1	234	4837	300056
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HJV CL E G H	148738	79230				ORPHA	1	470	4887	608374
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HJV CL E G H	148738	602390	Hemochromatosis type 2A	602390	C1865614	OMIM	1	470	4887	608374
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	JUP CL E G H	3728	601214	Naxos disease	601214	C1832600	OMIM	1	1035	6207	173325
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	KAT6B CL E G H	23522	603736	Young Simpson syndrome	603736	C1863557	OMIM	1	1003	17582	605880
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMA4 CL E G H	3910	615235	Dilated cardiomyopathy 1JJ	615235	C3808935	OMIM	1	1613	6484	600133
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1613	6484	600133
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMP2 CL E G H	3920	34587				ORPHA	1	807	6501	309060
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LDB3 CL E G H	11155	601493	Dilated cardiomyopathy 1C	601493	C1832244	OMIM	1	1226	15710	605906
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1226	15710	605906
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	305	16084	607908
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	98855				ORPHA	1	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	168796				ORPHA	1	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	181350	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	181350	C0410190	OMIM	1	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	115200	Dilated cardiomyopathy 1A	115200	C1449563	OMIM	1	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	1	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	1	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MT-TK CL E G H	4566	1349	Chromosome 9, partial monosomy 9p		C2931695	ORPHA	1		7489	590060
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYBPC3 CL E G H	4607	615396	Left ventricular noncompaction 10	615396	C3715165	OMIM	1	3317	7551	600958
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	1	3317	7551	600958
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH6 CL E G H	4624	613252	Dilated cardiomyopathy 1EE	613252	C2750466	OMIM	1	2116	7576	160710
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	1	2116	7576	160710
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	613426	Dilated cardiomyopathy 1S	613426	C1834481	OMIM	1	4106	7577	160760
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	255160	Myopathy, myosin storage, autosomal recessive	255160	C1850709	OMIM	1	4106	7577	160760
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	1	4106	7577	160760
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1485	23246	608517
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NDUFB11 CL E G H	54539	2556				ORPHA	1	209	20372	300403
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NDUFB11 CL E G H	54539	300952	Linear skin defects with multiple congenital anomalies 3	300952	C4225421	OMIM	1	209	20372	300403
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1016	16932	605491
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NEXN CL E G H	91624	613122	Dilated cardiomyopathy 1CC	613122	C2751084	OMIM	1	669	29557	613121
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	1	669	29557	613121
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PGM1 CL E G H	5236	614921	Congenital disorder of glycosylation type 1t	614921	C2752015	OMIM	1	413	8905	171900
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PLN CL E G H	5350	609909	Dilated cardiomyopathy 1P	609909	C1835928	OMIM	1	178	9080	172405
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	1	178	9080	172405
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PPCS CL E G H	79717	618189	CARDIOMYOPATHY, DILATED, 2C	618189		OMIM	1	204	25686	609853
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	1	204	25686	609853
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PRDM16 CL E G H	63976	615373	Left ventricular noncompaction 8	615373	C3809288	OMIM	1	1272	14000	605557
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1272	14000	605557
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PSEN1 CL E G H	5663	613694	Cardiomyopathy, dilated, 1u	613694	C3160720	OMIM	1	501	9508	104311
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	1	501	9508	104311
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PSEN2 CL E G H	5664	613697	Dilated cardiomyopathy 1V	613697	C3150958	OMIM	1	279	9509	600759
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	1	279	9509	600759
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RAF1 CL E G H	5894	615916	Cardiomyopathy, dilated, 1NN	615916	C4014656	OMIM	1	990	9829	164760
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	1	990	9829	164760
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RBM20 CL E G H	282996	613172	Dilated cardiomyopathy 1DD	613172	C2750995	OMIM	1	1623	27424	613171
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1623	27424	613171
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SCN5A CL E G H	6331	601154	Dilated cardiomyopathy 1E	601154	C1832680	OMIM	1	3531	10593	600163
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	1	3531	10593	600163
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHA CL E G H	6389	613642	Dilated cardiomyopathy 1GG	613642	C3150898	OMIM	1	2503	10680	600857
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	1	2503	10680	600857
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SGCD CL E G H	6444	606685	Dilated cardiomyopathy 1L	606685	C1847667	OMIM	1	673	10807	601411
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	1	673	10807	601411
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	1	49	11532	604903
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TAZ CL E G H	6901	111	Recurrent respiratory papillomatosis			ORPHA	1		11577	300394
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	1		11577	300394
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TCAP CL E G H	8557	607487	Dilated cardiomyopathy 1N	607487	C1843791	OMIM	1	298	11610	604488
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	1	298	11610	604488
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	1	597	11875	188380
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNC1 CL E G H	7134	611879	Dilated cardiomyopathy 1Z	611879	C2678475	OMIM	1	300	11943	191040
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	1	300	11943	191040
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNI3 CL E G H	7137	613286	Dilated cardiomyopathy 1FF	613286	C2750091	OMIM	1	655	11947	191044
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNI3 CL E G H	7137	611880	Dilated cardiomyopathy 2A	611880	C2678474	OMIM	1	655	11947	191044
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	1	655	11947	191044
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNI3K CL E G H	51086	616117	Cardiac conduction disease with or without dilated cardiomyopathy	616117	C4015285	OMIM	1	798	19661	613932
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNT2 CL E G H	7139	601494	Left ventricular noncompaction 6	601494	C1832243	OMIM	1	817	11949	191045
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	1	817	11949	191045
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM1 CL E G H	7168	611878	Dilated cardiomyopathy 1Y	611878	C2678476	OMIM	1	767	12010	191010
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	1	767	12010	191010
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TTN CL E G H	7273	604145	Dilated cardiomyopathy 1G	604145	C1858763	OMIM	1	27503	12403	188840
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TTN CL E G H	7273	613765	Familial hypertrophic cardiomyopathy 9	613765	C1861065	OMIM	1	27503	12403	188840
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	1	27503	12403	188840
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1068	18155	606448
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	VCL CL E G H	7414	611407	Dilated cardiomyopathy 1W	611407	C1969639	OMIM	1	1175	12665	193065
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	1	1175	12665	193065
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ABCC9 CL E G H	10060	608569	Dilated cardiomyopathy 1O	608569	C1837839	OMIM	0	1507	60	601439
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	0	506	129	102610
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ADCY5 CL E G H	111	324588				ORPHA	0	653	236	600293
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	0	653	236	600293
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	0	2111	21316	611192
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BBS2 CL E G H	583	615981	Bardet-Biedl syndrome 2	615981	C2936863	OMIM	0	894	967	606151
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	0	502	1938	612395
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COL7A1 CL E G H	1294	79408				ORPHA	0	3777	2214	120120
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DES CL E G H	1674	601419	Myofibrillar myopathy 1	601419	C1832370	OMIM	0	976	2770	125660
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ERBB3 CL E G H	2065	607598	Lethal congenital contracture syndrome 2	607598	C1843478	OMIM	0	135	3431	190151
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	0	586	3702	300163
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKRP CL E G H	79147	34515				ORPHA	0	950	17997	606596
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	0	914	3622	607440
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GATA5 CL E G H	140628	617912	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5	617912	CN873437	OMIM	0	395	15802	611496
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMA3 CL E G H	3909	79404				ORPHA	0	1379	6483	600805
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMB3 CL E G H	3914	79404				ORPHA	0	1020	6490	150310
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMC2 CL E G H	3918	79404				ORPHA	0	909	6493	150292
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	264				ORPHA	0	1814	6636	150330
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	0	157	16205	615076
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MMP1 CL E G H	4312	79408				ORPHA	0	97	7155	120353
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	59135				ORPHA	0	4106	7577	160760
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYPN CL E G H	84665	615248	Dilated cardiomyopathy 1KK	615248	C3714995	OMIM	0	1485	23246	608517
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NUP107 CL E G H	57122	616730	Nephrotic syndrome, type 11	616730	C4225228	OMIM	0	242	29914	607617
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POLG CL E G H	5428	70595				ORPHA	0	2324	9179	174763
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	0	500	10806	600900
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SLC2A10 CL E G H	81031	3342				ORPHA	0	571	13444	606145
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	0	434	12367	604723
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TWNK CL E G H	56652	70595				ORPHA	0	450	1160	606075
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	0	350	16808	605981
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	0	129	12831	194363

Genes (117) :ABCC9 ACAD8 ACAD9 ACTA1 ACTC1 ACTN2 ADCY5 ALMS1 ANKRD1 ANKRD11 BAG3 BBS2 BOLA3 CHKB COL7A1 COX7B CPT2 CRYAB CSRP3 DES DMD DNAJC19 DOLK DPM3 DSG2 DSP EPG5 ERBB3 EYA4 FHL1 FHL2 FKRP FKTN GABRD GATA5 GATAD1 GLB1 HACD1 HADH HADHA HADHB HAMP HCCS HJV ITGA7 JUP KAT6B KCNAB2 LAMA3 LAMA4 LAMB3 LAMC2 LAMP2 LDB3 LIMS2 LMNA MAP3K20 MGME1 MMP1 MT-TK MYBPC3 MYH6 MYH7 MYL2 MYPN NDUFB11 NEBL NEXN NUP107 PGM1 PLN POLG POLG2 PPCS PRDM16 PSEN1 PSEN2 RAF1 RBCK1 RBM20 RERE RRM2B RYR1 SCN5A SDHA SDHAF1 SDHD SELENON SGCB SGCD SKI SLC25A4 SLC2A10 SPEG SYNE1 SYNE2 TAF1A TAZ TCAP TMEM43 TMPO TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TPM2 TPM3 TRNK TSFM TTN TWNK TXNRD2 UBR1 VCL XK XRCC4

Diseases (124) :608569 154 611283 99901 611126 2020 255310 161800 613424 612158 324588 606703 64 203800 261250 613881 615981 614299 602541 79409 79408 2556 600649 608836 615184 607482 604765 601419 302045 310200 66634 610198 610768 263494 612937 612877 65282 615821 605676 242840 607598 217622 605362 300718 34515 607155 611615 253800 272 1606 617912 614672 230500 71212 231530 609015 79230 602390 601214 603736 79404 615235 34587 300257 601493 616827 264 168796 98855 98853 2229 181350 115200 212112 610140 352447 615084 615396 613252 59135 613426 160500 255160 615248 300952 613122 616730 614921 609909 254892 70595 607459 618189 615373 613694 613697 615916 615895 613172 601154 613642 252011 604286 606685 3342 615959 302060 111 607487 611879 613286 611880 616117 601494 611878 1349 610505 604145 613765 611705 243800 611407 300842 616541

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen