Phenotypic Abnormality (PA): Abnormal muscle fiber protein expression

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Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children)	HP term [HP ID] <#Children>	(#SF|#FA)	#Supra-domain (Single|Duplex|Triple)
+ + + + 4:	Phenotypic abnormality [HP:0000118] <25>
+ + + 3:	Abnormality of the musculature [HP:0003011] <3>	(64|83)	(70|33|9)
+ + 2:	Abnormal skeletal muscle morphology [HP:0011805] <38>	(30|36)	(35|14|4)
+ 1:	Abnormal muscle fiber morphology [HP:0004303] <25>	(6|5)	(6|2|0)
0:	Abnormal muscle fiber protein expression [HP:0030089] <17>	(2|1)	(2|1|0)
- 1:	Abnormal muscle fiber alpha dystroglycan [HP:0030112] <2>	(1|0)	(1|0|0)
- 1:	Abnormal muscle fiber alpha sarcoglycan [HP:0030100] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber beta sarcoglycan [HP:0030103] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber calpain-3 [HP:0030119] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber delta sarcoglycan [HP:0030105] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber dysferlin [HP:0030113] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber dystrophin expression [HP:0030096] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber emerin [HP:0030116] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber gamma sarcoglycan [HP:0030104] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber merosin expression [HP:0030090] <2>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber desmin [HP:0030224] <1>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber lamin A/C [HP:0030123] <1>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber laminin beta 1 [HP:0030093] <1>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber myotilin [HP:0030226] <1>	(0|0)	(0|0|0)
- 1:	Abnormal muscle fiber valosin-containing protein [HP:0030228] <1>	(0|0)	(0|0|0)
- 1:	Reduced muscle collagen VI [HP:0030095]	(1|1)	(1|1|0)
- 1:	Reduced muscle fiber perlecan [HP:0030122]	(0|0)	(0|0|0)

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Superfamily

Superfamily domains annotated to this HP term (SDHP level: Highly Informative)
Highlighted in gray are those with FDR_all>0.001

SCOP term	FDR (all)	Annotation (direct or inherited)
Nucleotide-diphospho-sugar transferases	0.000995	DIRECT
vWA-like	0.004735	INHERITED FROM: Reduced muscle collagen VI

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Family

Family domains annotated to this HP term (Not in SDHP)
Highlighted in gray are those with FDR_all>0.001

SCOP term	FDR (all)	Annotation (direct or inherited)
Integrin A (or I) domain	0.003226	INHERITED FROM: Reduced muscle collagen VI

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Supra-domain (including individual superfamily)

Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001

Supra-domain (Single)	FDR (all)	Annotation (direct or inherited)
Nucleotide-diphospho-sugar transferases	0.0005291	DIRECT
vWA-like	0.002867	INHERITED FROM: Reduced muscle collagen VI

Supra-domains annotated to this HP term (Not in SPHO)
Highlighted in gray are those with FDR>0.001

Supra-domain (Duplex) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
53300,53300 53300 - vWA-like 53300 - vWA-like	0.0000001122	DIRECT