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
..Restrictive cardiomyopathy (HP:0001723)

Term ID:

1723

Name:

Restrictive cardiomyopathy

Synonym:

Definition:

Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.

Comments:

Reference:

HP:0001723

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrial cardiomyopathy (HP:0200127)

Dilated cardiomyopathy (HP:0001644)

Histiocytoid cardiomyopathy (HP:0005152)

Hypertrophic cardiomyopathy (HP:0001639)

Noncompaction cardiomyopathy (HP:0012817)

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:0001723	HP:0001723	Restrictive cardiomyopathy	0	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	1666	57	603234
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	MYL3 CL E G H	4634	608751	Familial hypertrophic cardiomyopathy 8	608751	C1837471	OMIM	1	346	7584	160790
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	PDGFRA CL E G H	5156	607685	Idiopathic hypereosinophilic syndrome	607685	C0206141	OMIM	1	2832	8803	173490
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	277	14938	610272
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	TNNI3 CL E G H	7137	115210	Familial restrictive cardiomyopathy 1	115210	C1861861	OMIM	1	655	11947	191044
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	0	1666	57	603234
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	ACTC1 CL E G H	70	613424	Dilated cardiomyopathy 1R	613424	C3150681	OMIM	0	672	143	102540
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	DES CL E G H	1674	601419	Myofibrillar myopathy 1	601419	C1832370	OMIM	0	976	2770	125660
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	0	589	3356	173335

Genes (8) :ABCC6 ACTC1 DES ENPP1 MYL3 PDGFRA PIGT TNNI3

Diseases (8) :758 264800 613424 601419 608751 607685 615398 115210

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

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