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

Human Phenotype Ontology

Grandparent Node:
Abnormal muscle fiber morphology (HP:0004303)

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Parent Node:
Abnormal muscle fiber protein expression (HP:0030089)

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..Starting node
..Abnormal muscle fiber myotilin (HP:0030226)

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Term ID:

30226

Name:

Abnormal muscle fiber myotilin

Synonym:

Abnormal muscle fibre myotilin

Definition:

A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Accumulation of muscle fiber myotilin (HP:0030227)

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Sister Nodes:

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Abnormal muscle fiber alpha dystroglycan (HP:0030112)

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Abnormal muscle fiber alpha sarcoglycan (HP:0030100)

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Abnormal muscle fiber beta sarcoglycan (HP:0030103)

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Abnormal muscle fiber calpain-3 (HP:0030119)

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Abnormal muscle fiber delta sarcoglycan (HP:0030105)

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Abnormal muscle fiber desmin (HP:0030224)

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Abnormal muscle fiber dysferlin (HP:0030113)

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Abnormal muscle fiber dystrophin expression (HP:0030096)

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Abnormal muscle fiber emerin (HP:0030116)

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Abnormal muscle fiber gamma sarcoglycan (HP:0030104)

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Abnormal muscle fiber lamin A/C (HP:0030123)

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Abnormal muscle fiber laminin beta 1 (HP:0030093)

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Abnormal muscle fiber merosin expression (HP:0030090)

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Abnormal muscle fiber valosin-containing protein (HP:0030228)

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Reduced muscle collagen VI (HP:0030095)

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Reduced muscle fiber perlecan (HP:0030122)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030226	HP:0030226	Abnormal muscle fiber myotilin	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040281 - Very frequent			75
HP:0030226	HP:0030227	Accumulation of muscle fiber myotilin	1	CL E G H

Genes (1) :MYOT

Diseases (1) :ORPHA:98911

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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