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 cell morphology (HP:0025461)

Grandparent Node:
Abnormal heart morphology (HP:0001627)

Parent Node:
Abnormal cardiomyocyte morphology (HP:0031331)

..Starting node
..Cardiomyocyte mitochondrial proliferation (HP:0031320)

Term ID:

31320

Name:

Cardiomyocyte mitochondrial proliferation

Synonym:

Definition:

An abnormal increase in the number of mitochondria per cardiac myocyte.

Comments:

Reference:

HP:0031320

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cadiomyocyte dystrophin staining (HP:0031339)

Abnormal cardiomyocyte connexin43 staining (HP:0031337)

Abnormal cardiomyocyte mitochondrial morphology (HP:0031335)

Abnormal cardiomyocyte plakoglobin staining (HP:0031338)

Cardiomyocyte degeneration (HP:0031332)

Cardiomyocyte hypertrophy (HP:0031319)

Cardiomyocyte inclusion bodies (HP:0031334)

Myocardial sarcomeric disarray (HP:0031333)

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:0031320	HP:0031320	Cardiomyocyte mitochondrial proliferation	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0031320	HP:0031320	Cardiomyocyte mitochondrial proliferation	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0031320	HP:0031320	Cardiomyocyte mitochondrial proliferation	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200

Genes (3) :CACNA1S COA5 RYR1

Diseases (2) :ORPHA:423 OMIM:616500

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