Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 muscle fiber morphology (HP:0004303)

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

..Starting node
..Abnormal muscle fiber dysferlin (HP:0030113)

Term ID:

30113

Name:

Abnormal muscle fiber dysferlin

Synonym:

Abnormal muscle fibre dysferlin

Definition:

A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing.

Comments:

Reference:

HP:0030113

Genes and Diseases:

Child Nodes:

........

Absent muscle fiber dysferlin (HP:0030114)

........

Reduced muscle fiber dysferlin (HP:0030115)

Sister Nodes:

Abnormal muscle fiber alpha dystroglycan (HP:0030112)

Abnormal muscle fiber alpha sarcoglycan (HP:0030100)

Abnormal muscle fiber beta sarcoglycan (HP:0030103)

Abnormal muscle fiber calpain-3 (HP:0030119)

Abnormal muscle fiber delta sarcoglycan (HP:0030105)

Abnormal muscle fiber desmin (HP:0030224)

Abnormal muscle fiber dystrophin expression (HP:0030096)

Abnormal muscle fiber emerin (HP:0030116)

Abnormal muscle fiber gamma sarcoglycan (HP:0030104)

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

Abnormal muscle fiber laminin beta 1 (HP:0030093)

Abnormal muscle fiber merosin expression (HP:0030090)

Abnormal muscle fiber myotilin (HP:0030226)

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

Reduced muscle collagen VI (HP:0030095)

Reduced muscle fiber perlecan (HP:0030122)

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:0030113	HP:0030113	Abnormal muscle fiber dysferlin	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0030113	HP:0030115	Reduced muscle fiber dysferlin	1	CL E G H
HP:0030113	HP:0030114	Absent muscle fiber dysferlin	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040281 - Very frequent	600

Genes (1) :DYSF

Diseases (1) :ORPHA:178400

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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