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:
Complement deficiency (HP:0004431)

Parent Node:
Decreased serum complement C4 (HP:0045042)

..Starting node
..Decreased serum complement C4b (HP:0045044)

Term ID:

45044

Name:

Decreased serum complement C4b

Synonym:

C4b deficiency; Complement component 4B deficiency

Definition:

A reduced level of the complement component C4b in circulation.

Comments:

Reference:

HP:0045044

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum complement C4a (HP:0045043)

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:0045044	HP:0045044	Decreased serum complement C4b	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency	.	1

Genes (1) :C4B

Diseases (1) :OMIM:614379

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