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 muscle fiber morphology (HP:0004303)

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

..Starting node
..Reduced muscle collagen VI (HP:0030095)

Term ID:

30095

Name:

Reduced muscle collagen VI

Synonym:

Reduced collagen 6 in muscle

Definition:

A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.

Comments:

Reference:

HP:0030095

Genes and Diseases:

Child Nodes:

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 dysferlin (HP:0030113)

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 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:0030095	HP:0030095	Reduced muscle collagen VI	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	65
HP:0030095	HP:0030095	Reduced muscle collagen VI	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	442
HP:0030095	HP:0030095	Reduced muscle collagen VI	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0030095	HP:0030095	Reduced muscle collagen VI	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	478
HP:0030095	HP:0030095	Reduced muscle collagen VI	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0030095	HP:0030095	Reduced muscle collagen VI	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	702
HP:0030095	HP:0030095	Reduced muscle collagen VI	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702

Genes (4) :COL12A1 COL6A1 COL6A2 COL6A3

Diseases (2) :ORPHA:610 OMIM:254090

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.