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 inclusion bodies (HP:0031334)

Term ID:

31334

Name:

Cardiomyocyte inclusion bodies

Synonym:

Definition:

Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.

Comments:

Reference:

HP:0031334

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 mitochondrial proliferation (HP:0031320)

Myocardial sarcomeric disarray (HP:0031333)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031334	HP:0031334	Cardiomyocyte inclusion bodies	0	CL E G H

Genes (0) :

Diseases (0) :

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