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:
Abnormal morphology of myocardial trabeculae (HP:0030681)

..Starting node
..Abnormal morphology of left ventricular trabeculae (HP:0031192)

Term ID:

31192

Name:

Abnormal morphology of left ventricular trabeculae

Synonym:

Definition:

Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).

Comments:

Reference:

HP:0031192

Genes and Diseases:

Child Nodes:

........

Left ventricular noncompaction (HP:0030682)

........

Increased density of left ventricular trabeculae (HP:0031194)

........

Apical hypertrabeculation of the left ventricle (HP:0031195)

........

Thin myocardium compact layer (HP:0031196)

Sister Nodes:

Abnormal morphology of right ventricular trabeculae (HP:0031193)

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:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7		28
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31		7
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0031192	HP:0031192	Abnormal morphology of left ventricular trabeculae	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0031192	HP:0031196	Thin myocardium compact layer	1	CL E G H
HP:0031192	HP:0031195	Apical hypertrabeculation of the left ventricle	1	CL E G H
HP:0031192	HP:0031194	Increased density of left ventricular trabeculae	1	CL E G H
HP:0031192	HP:0030682	Left ventricular noncompaction	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	HP:0040283 - Occasional	208
HP:0031192	HP:0030682	Left ventricular noncompaction	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	HP:0040283 - Occasional	307
HP:0031192	HP:0030682	Left ventricular noncompaction	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0031192	HP:0030682	Left ventricular noncompaction	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0031192	HP:0030682	Left ventricular noncompaction	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0031192	HP:0030682	Left ventricular noncompaction	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional	185
HP:0031192	HP:0030682	Left ventricular noncompaction	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	HP:0040283 - Occasional	286
HP:0031192	HP:0030682	Left ventricular noncompaction	1	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7	.	28
HP:0031192	HP:0030682	Left ventricular noncompaction	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.	7
HP:0031192	HP:0030682	Left ventricular noncompaction	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10	.	1143
HP:0031192	HP:0030682	Left ventricular noncompaction	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	HP:0040283 - Occasional	1269
HP:0031192	HP:0030682	Left ventricular noncompaction	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0031192	HP:0030682	Left ventricular noncompaction	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0031192	HP:0030682	Left ventricular noncompaction	1	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8	.	148
HP:0031192	HP:0030682	Left ventricular noncompaction	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0031192	HP:0030682	Left ventricular noncompaction	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0031192	HP:0030682	Left ventricular noncompaction	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0031192	HP:0030682	Left ventricular noncompaction	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0031192	HP:0030682	Left ventricular noncompaction	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	HP:0040283 - Occasional	248
HP:0031192	HP:0030682	Left ventricular noncompaction	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56

Genes (19) :ACTC1 ACTN2 CALM2 COA6 DTNA HCN4 LDB3 MIB1 MIPEP MYBPC3 MYH7 NONO NPPA PRDM16 SCN5A SDHA SDHD TNNT2 VARS2

Diseases (19) :OMIM:613424 OMIM:612158 OMIM:616249 OMIM:616501 OMIM:604169 OMIM:163800 OMIM:601493 OMIM:615092 OMIM:617228 OMIM:615396 OMIM:613426 OMIM:300967 ORPHA:1344 OMIM:615373 OMIM:613642 OMIM:252011 OMIM:619167 OMIM:601494 OMIM:615917

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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