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:
Complement deficiency (HP:0004431)

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

..Starting node
..Decreased serum complement C4a (HP:0045043)

Term ID:

45043

Name:

Decreased serum complement C4a

Synonym:

C4a deficiency; Complement component 4A deficiency

Definition:

A reduced level of the complement component C4a in circulation.

Comments:

Reference:

HP:0045043

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum complement C4b (HP:0045044)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045043	HP:0045043	Decreased serum complement C4a	0	CL E G H

Genes (0) :

Diseases (0) :

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