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 muscle fiber morphology (HP:0004303)

Parent Node:
Muscle fiber inclusion bodies (HP:0100299)

..Starting node
..Muscle fiber actin filament accumulation (HP:0025200)

Term ID:

25200

Name:

Muscle fiber actin filament accumulation

Synonym:

Muscle fibre actin filament accumulation

Definition:

Accumulation in muscle cells of filaments composed of actin.

Comments:

Reference:

HP:0025200

Genes and Diseases:

Child Nodes:

Sister Nodes:

Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)

Muscle fiber intranuclear inclusion bodies (HP:0100304)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025200	HP:0025200	Muscle fiber actin filament accumulation	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.