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

..Starting node
..Decreased serum terminal complement component (HP:0033057)

Term ID:

33057

Name:

Decreased serum terminal complement component

Synonym:

Definition:

Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.

Comments:

Reference:

HP:0033057

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033057	HP:0033057	Decreased serum terminal complement component	0	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0033057	HP:0033057	Decreased serum terminal complement component	0	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0033057	HP:0033057	Decreased serum terminal complement component	0	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0033057	HP:0033057	Decreased serum terminal complement component	0	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I		9
HP:0033057	HP:0033057	Decreased serum terminal complement component	0	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II		7
HP:0033057	HP:0033057	Decreased serum terminal complement component	0	C9 CL E G H	735	1358	OMIM:613825	Complement component 9 deficiency		10
HP:0033057	HP:0033060	Decreased serum complement C5	1	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0033057	HP:0033059	Decreased serum complement C6	1	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0033057	HP:0033058	Decreased serum complement C7	1	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0033057	HP:0004434	Decreased serum complement C8	1	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I	.	9
HP:0033057	HP:0004434	Decreased serum complement C8	1	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II	.	7
HP:0033057	HP:0012308	Decreased serum complement C9	1	C9 CL E G H	735	1358	OMIM:613825	Complement component 9 deficiency	.	10

Genes (6) :C5 C6 C7 C8A C8B C9

Diseases (6) :OMIM:609536 OMIM:612446 OMIM:610102 OMIM:613790 OMIM:613789 OMIM:613825

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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