Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 factor B (HP:0005416)

Term ID:

5416

Name:

Decreased serum complement factor B

Synonym:

Decreased serum factor b

Definition:

A reduced level of the complement component factor B in circulation.

Comments:

Reference:

HP:0005416

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum complement C3 (HP:0005421)

Decreased serum complement C4 (HP:0045042)

Decreased serum complement C8 (HP:0004434)

Decreased serum complement C9 (HP:0012308)

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:0005416	HP:0005416	Decreased serum complement factor B	0	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0005416	HP:0005416	Decreased serum complement factor B	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0005416	HP:0005416	Decreased serum complement factor B	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005416	HP:0005416	Decreased serum complement factor B	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005416	HP:0005416	Decreased serum complement factor B	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57

Genes (5) :CFB CFH CFHR1 CFHR3 CFI

Diseases (3) :OMIM:615561 OMIM:235400 OMIM:610984

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