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
..Minicore myopathy (HP:0003789)

Term ID:

3789

Name:

Minicore myopathy

Synonym:

Definition:

Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.

Comments:

Reference:

HP:0003789

Genes and Diseases:

Child Nodes:

........

Type 1 and type 2 muscle fiber minicore regions (HP:0003787)

Sister Nodes:

EMG: myopathic abnormalities (HP:0003458)

Inflammatory myopathy (HP:0009071)

Myofibrillar myopathy (HP:0003715)

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:0003789	HP:0003789	Minicore myopathy	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	167	1875	601443
HP:0003789	HP:0003789	Minicore myopathy	0	MYH7 CL E G H	4625	59135				ORPHA	1	4106	7577	160760
HP:0003789	HP:0003789	Minicore myopathy	0	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003789	HP:0003789	Minicore myopathy	0	TRIP4 CL E G H	9325	486815				ORPHA	1	212	12310	604501
HP:0003789	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	1	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	167	1875	601443
HP:0003789	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	1	MYH7 CL E G H	4625	59135				ORPHA	1	4106	7577	160760
HP:0003789	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003789	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	1	TRIP4 CL E G H	9325	486815				ORPHA	1	212	12310	604501
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (5) :CFL2 MYH7 RYR1 SELENON TRIP4

Diseases (6) :610687 59135 424107 486815 255320 602771

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