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:
Cardiomyopathy (HP:0001638)

Parent Node:
Hypertrophic cardiomyopathy (HP:0001639)

..Starting node
..Concentric hypertrophic cardiomyopathy (HP:0005157)

Term ID:

5157

Name:

Concentric hypertrophic cardiomyopathy

Synonym:

Symmetric, concentric, hypertrophic cardiomyopathy

Definition:

Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.

Comments:

Reference:

HP:0005157

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetric septal hypertrophy (HP:0001670)

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:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent	263
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0005157	HP:0005157	Concentric hypertrophic cardiomyopathy	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43

Genes (21) :ALPK3 CLN3 COX1 COX2 COX3 DES FHOD3 ND1 ND4 ND5 ND6 NDUFS4 TNNC1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSFM

Diseases (8) :OMIM:618052 OMIM:204200 ORPHA:550 ORPHA:98909 OMIM:619402 OMIM:252010 OMIM:613243 OMIM:610505

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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