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 cardiac ventricle morphology (HP:0001713)

..Starting node
..Myocardial steatosis (HP:0006693)

Term ID:

6693

Name:

Myocardial steatosis

Synonym:

Definition:

Steatosis in the myocardium.

Comments:

Reference:

HP:0006693

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal left ventricle morphology (HP:0001711)

Abnormal right ventricle morphology (HP:0001707)

Abnormal ventricular septum morphology (HP:0010438)

Cardiac diverticulum (HP:0100571)

Dilatation of the ventricular cavity (HP:0006698)

Myocardial calcification (HP:0006690)

Single ventricle (HP:0001750)

Ventricular hypertrophy (HP:0001714)

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:0006693	HP:0006693	Myocardial steatosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0006693	HP:0006693	Myocardial steatosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0006693	HP:0006693	Myocardial steatosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0006693	HP:0006693	Myocardial steatosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0006693	HP:0006693	Myocardial steatosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0006693	HP:0006693	Myocardial steatosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178

Genes (6) :ABCG5 ABCG8 APOB LDLR LDLRAP1 PCSK9

Diseases (1) :ORPHA:391665

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