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:
Myocardial fibrosis (HP:0001685)

..Starting node
..Interstitial cardiac fibrosis (HP:0031329)

Term ID:

31329

Name:

Interstitial cardiac fibrosis

Synonym:

Definition:

A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.

Comments:

Reference:

HP:0031329

Genes and Diseases:

Child Nodes:

Sister Nodes:

Perivascular cardiac fibrosis (HP:0031328)

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:0031329	HP:0031329	Interstitial cardiac fibrosis	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	197
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	217
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	180
HP:0031329	HP:0031329	Interstitial cardiac fibrosis	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	248

Genes (10) :ACTC1 DOLK FLNC KIF20A LMNA MYH7 MYPN RPL3L TNNI3 TNNT2

Diseases (6) :OMIM:613424 ORPHA:91131 ORPHA:75249 OMIM:181350 OMIM:613426 OMIM:619371

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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