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:
Abnormal muscle fiber morphology (HP:0004303)

..Starting node
..Central core regions in muscle fibers (HP:0030230)

Term ID:

30230

Name:

Central core regions in muscle fibers

Synonym:

Central core regions in muscle fibres

Definition:

The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.

Comments:

Reference:

HP:0030230

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal muscle fiber protein expression (HP:0030089)

Abnormal muscle glycogen content (HP:0012269)

Abnormality of skeletal muscle fiber size (HP:0012084)

Autophagic vacuoles (HP:0003736)

Centrally nucleated skeletal muscle fibers (HP:0003687)

Deposits immunoreactive to beta-amyloid protein (HP:0003791)

Hypertrophied muscle fibers (HP:0100293)

Increased endomysial connective tissue (HP:0100297)

Increased muscle lipid content (HP:0009058)

Internally nucleated skeletal muscle fibers (HP:0031237)

Motheaten muscle fibers (HP:0100298)

Muscle fiber atrophy (HP:0100295)

Muscle fiber inclusion bodies (HP:0100299)

Muscle fiber necrosis (HP:0003713)

Muscle fiber splitting (HP:0003555)

Myelin-like whorls in vacuolated fibers (HP:0031542)

Necklace skeletal muscle fibers (HP:0031238)

Perifascicular muscle fiber atrophy (HP:0100296)

Ragged-red muscle fibers (HP:0003200)

Reduced muscle carnitine level (HP:0030362)

Rimmed vacuoles (HP:0003805)

Ring fibers (HP:0100305)

Type 1 muscle fiber predominance (HP:0003803)

Type 2 muscle fiber predominance (HP:0010602)

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:0030230	HP:0030230	Central core regions in muscle fibers	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0030230	HP:0030230	Central core regions in muscle fibers	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0030230	HP:0030230	Central core regions in muscle fibers	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0030230	HP:0030230	Central core regions in muscle fibers	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200

Genes (3) :MICU1 PYROXD1 RYR1

Diseases (4) :ORPHA:401768 OMIM:617258 ORPHA:597 OMIM:117000

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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