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 heart morphology (HP:0001627)

Parent Node:
Abnormal myocardium morphology (HP:0001637)

..Starting node
..Myocardial necrosis (HP:0001700)

Term ID:

1700

Name:

Myocardial necrosis

Synonym:

Definition:

Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).

Comments:

Reference:

HP:0001700

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal morphology of myocardial trabeculae (HP:0030681)

Abnormal ventricular myocardium morphology (HP:0031316)

Cardiac amyloidosis (HP:0030843)

Cardiomyopathy (HP:0001638)

Fatty replacement of ventricular myocardial tissue (HP:0031317)

Focal necrosis of right ventricular muscle cells (HP:0003338)

Myocardial fibrosis (HP:0001685)

Myocardial immune cell infiltration (HP:0031321)

Myocarditis (HP:0012819)

Myofiber disarray (HP:0031318)

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:0001700	HP:0001700	Myocardial necrosis	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001700	HP:0001700	Myocardial necrosis	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0001700	HP:0001700	Myocardial necrosis	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001700	HP:0001700	Myocardial necrosis	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.

Genes (4) :DNAJC21 LAMP2 SBDS SRP54

Diseases (2) :OMIM:260400 OMIM:300257

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