Phenotypic Abnormality (PA): Abnormal circulating creatine kinase concentration

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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)
+ + + + + 5:	Phenotypic abnormality [HP:0000118] <25>
+ + + + 4:	Abnormality of metabolism/homeostasis [HP:0001939] <16>	(75|82)	(79|40|16)
+ + + 3:	Abnormal circulating metabolite concentration [HP:0032180] <12>	(30|31)	(31|14|4)
+ + 2:	Abnormal circulating protein level [HP:0010876] <41>	(3|9)	(4|5|2)
+ 1:	Abnormality of circulating enzyme level [HP:0011021] <1>	(1|7)	(1|3|2)
0:	Abnormal circulating creatine kinase concentration [HP:0040081] <4>	(1|7)	(1|3|2)
- 1:	Elevated serum creatine kinase [HP:0003236] <4>	(1|7)	(1|3|2)
- 1:	Increased circulating creatine kinase BB isoform [HP:0032233]	(0|0)	(0|0|0)
- 1:	Increased circulating creatine kinase MB isoform [HP:0032232]	(0|0)	(0|0|0)
- 1:	Increased circulating creatine kinase MM isoform [HP:0032234]	(0|0)	(0|0|0)

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Superfamily

Superfamily 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)
Tropomyosin	0.0007641	DIRECT

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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)
LIM domain	0.00001995	DIRECT
Tropomyosin	0.000358	DIRECT
FAD/NAD-linked reductases, N-terminal and central domains	0.0005787	DIRECT
Inositol polyphosphate 5-phosphatase (IPP5)	0.0005787	DIRECT
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain	0.0006998	DIRECT
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains	0.0006998	DIRECT
Canonical RBD	0.0009721	DIRECT

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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)
Tropomyosin	0.0003973	DIRECT

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)
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD	0.00004287	DIRECT
53300,53300 53300 - vWA-like 53300 - vWA-like	0.0006223	DIRECT
46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat	0.0008783	DIRECT

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

Supra-domain (Triple) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
57716,57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain)	0.0000003196	DIRECT
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat	0.0005644	DIRECT