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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003715	HP:0003715	Myofibrillar myopathy	0	ACTA1 CL E G H	58	97240				ORPHA	1	506	129	102610
HP:0003715	HP:0003715	Myofibrillar myopathy	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0003715	HP:0003715	Myofibrillar myopathy	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	167	1875	601443
HP:0003715	HP:0003715	Myofibrillar myopathy	0	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003715	HP:0003715	Myofibrillar myopathy	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003715	HP:0003715	Myofibrillar myopathy	0	KLHL40 CL E G H	131377	615348	Nemaline myopathy 8	615348	C3809209	OMIM	1	466	30372	615340
HP:0003715	HP:0003715	Myofibrillar myopathy	0	LDB3 CL E G H	11155	609452	Myofibrillar myopathy, ZASP-related	609452	C1836155	OMIM	1	1226	15710	605906
HP:0003715	HP:0003715	Myofibrillar myopathy	0	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003715	HP:0003715	Myofibrillar myopathy	0	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0003715	HP:0003715	Myofibrillar myopathy	0	DNAJB6 CL E G H	10049	34516				ORPHA	0	487	14888	611332
HP:0003715	HP:0003715	Myofibrillar myopathy	0	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728

Genes (11) :ACTA1 AKT1 BAG3 CFL2 DNAJB6 FHL1 FLNC KLHL40 LDB3 MYOT PTEN

Diseases (10) :97240 744 612954 610687 34516 300695 609524 615348 609452 609200

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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