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
..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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	HP:0040283 - Occasional	208
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	150
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	51
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	109
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	228
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	156
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1		180
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0001723	HP:0001723	Restrictive cardiomyopathy	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5

Genes (21) :ABCC6 ACTC1 ANK1 CENPE DES ENPP1 EPB42 FLNA KIF20A MCM10 MYL2 MYL3 PDGFRA PIGT SLC4A1 SPTA1 SPTB TNNI3 TTR XYLT1 XYLT2

Diseases (16) :ORPHA:758 OMIM:264800 OMIM:613424 ORPHA:822 OMIM:616051 OMIM:601419 ORPHA:88630 OMIM:619433 OMIM:619313 OMIM:619424 OMIM:608751 OMIM:607685 ORPHA:369837 OMIM:615398 OMIM:115210 ORPHA:85451

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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