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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003789	HP:0003789	Minicore myopathy	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003789	HP:0003789	Minicore myopathy	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0003789	HP:0003789	Minicore myopathy	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0003789	HP:0003789	Minicore myopathy	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0003789	HP:0003789	Minicore myopathy	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0003789	HP:0003789	Minicore myopathy	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0003789	HP:0003789	Minicore myopathy	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0003789	HP:0003789	Minicore myopathy	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0003789	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0003789	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144

Genes (6) :CFL2 FXR1 MYH7 RYR1 SELENON TRIP4

Diseases (8) :OMIM:610687 OMIM:618823 ORPHA:59135 ORPHA:424107 OMIM:619542 OMIM:255320 OMIM:602771 ORPHA:486815

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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