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 humoral immunity (HP:0005368)

Parent Node:
Abnormality of complement system (HP:0005339)

..Starting node
..Abnormal total hemolytic complement activity (HP:0031904)

Term ID:

31904

Name:

Abnormal total hemolytic complement activity

Synonym:

Abnormal CH50

Definition:

Any deviation from the normal total hemolytic complement activity in the circulation.

Comments:

Reference:

HP:0031904

Genes and Diseases:

Child Nodes:

........

Increased total hemolytic complement activity (HP:0031905)

........

Decreased total hemolytic complement activity (HP:0031906)

Sister Nodes:

Abnormality of the alternative complement pathway (HP:0005482)

Complement deficiency (HP:0004431)

obsolete Decreased activity of complement receptor (HP:0025541)

Reduced hemolytic complement activity (HP:0025434)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031904	HP:0031904	Abnormal total hemolytic complement activity	0	CL E G H
HP:0031904	HP:0031906	Decreased total hemolytic complement activity	1	CL E G H
HP:0031904	HP:0031905	Increased total hemolytic complement activity	1	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.