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:
Abnormality of complement system (HP:0005339)

Parent Node:
Complement deficiency (HP:0004431)

..Starting node
..Decreased serum complement C8 (HP:0004434)

Term ID:

4434

Name:

Decreased serum complement C8

Synonym:

C8 deficiency

Definition:

A reduced level of the complement component C8 in circulation.

Comments:

Reference:

HP:0004434

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum complement C3 (HP:0005421)

Decreased serum complement C4 (HP:0045042)

Decreased serum complement C9 (HP:0012308)

Decreased serum complement factor B (HP:0005416)

Decreased serum complement factor H (HP:0005369)

Decreased serum complement factor I (HP:0005356)

Partial functional complement factor D deficiency (HP:0008338)

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:0004434	HP:0004434	Decreased serum complement C8	0	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I	.	9
HP:0004434	HP:0004434	Decreased serum complement C8	0	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II	.	7

Genes (2) :C8A C8B

Diseases (2) :OMIM:613790 OMIM:613789

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