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 skeletal muscle morphology (HP:0011805)

Parent Node:
Myopathy (HP:0003198)

..Starting node
..Myofibrillar myopathy (HP:0003715)

Term ID:

3715

Name:

Myofibrillar myopathy

Synonym:

Myofibrillar changes

Definition:

Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.

Comments:

Reference:

HP:0003715

Genes and Diseases:

Child Nodes:

Sister Nodes:

EMG: myopathic abnormalities (HP:0003458)

Inflammatory myopathy (HP:0009071)

Minicore myopathy (HP:0003789)

Necrotizing myopathy (HP:0008978)

Skeletal myopathy (HP:0003756)

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:0003715	HP:0003715	Myofibrillar myopathy	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0003715	HP:0003715	Myofibrillar myopathy	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0003715	HP:0003715	Myofibrillar myopathy	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0003715	HP:0003715	Myofibrillar myopathy	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040283 - Occasional	103
HP:0003715	HP:0003715	Myofibrillar myopathy	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0003715	HP:0003715	Myofibrillar myopathy	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0003715	HP:0003715	Myofibrillar myopathy	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0003715	HP:0003715	Myofibrillar myopathy	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0003715	HP:0003715	Myofibrillar myopathy	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0003715	HP:0003715	Myofibrillar myopathy	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0003715	HP:0003715	Myofibrillar myopathy	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128

Genes (11) :ACTA1 AKT1 BAG3 DNAJB6 FHL1 FLNC KLHL40 LDB3 MYOT PTEN TTN

Diseases (10) :ORPHA:97240 ORPHA:744 OMIM:612954 ORPHA:34516 OMIM:300695 OMIM:609524 OMIM:615348 OMIM:609452 OMIM:609200 OMIM:603689

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

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