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
..Asymmetric septal hypertrophy (HP:0001670)

Term ID:

1670

Name:

Asymmetric septal hypertrophy

Synonym:

Definition:

Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.

Comments:

Reference:

HP:0001670

Genes and Diseases:

Child Nodes:

Sister Nodes:

Concentric hypertrophic cardiomyopathy (HP:0005157)

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:0001670	HP:0001670	Asymmetric septal hypertrophy	0	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	148
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	452
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	1269
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.	131
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	124
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	HP:0040283 - Occasional	81
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0001670	HP:0001670	Asymmetric septal hypertrophy	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97

Genes (12) :CAV3 FHOD3 GNS HGSNAT MYH6 MYH7 MYL2 MYLK2 MYOZ2 NAGLU PRKAG2 SGSH

Diseases (9) :OMIM:192600 OMIM:619402 OMIM:252940 OMIM:252930 OMIM:608758 OMIM:613838 OMIM:252920 OMIM:600858 OMIM:252900

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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