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

..Starting node
..Fiber type grouping (HP:0033685)

Term ID:

33685

Name:

Fiber type grouping

Synonym:

Fibre type grouping

Definition:

An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.

Comments:

Reference:

HP:0033685

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033685	HP:0033685	Fiber type grouping	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0033685	HP:0033685	Fiber type grouping	0	EMILIN1 CL E G H	11117	19880	OMIM:620080		2
HP:0033685	HP:0033685	Fiber type grouping	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	227
HP:0033685	HP:0033685	Fiber type grouping	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	464
HP:0033685	HP:0033685	Fiber type grouping	0	REEP1 CL E G H	65055	25786	OMIM:620011		87
HP:0033685	HP:0033685	Fiber type grouping	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0033685	HP:0033685	Fiber type grouping	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	113

Genes (7) :ANXA11 EMILIN1 MYH14 POLG REEP1 SLC5A6 TWNK

Diseases (6) :OMIM:619733 OMIM:620080 OMIM:614369 OMIM:607459 OMIM:620011 OMIM:619903

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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