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
..Partial functional complement factor D deficiency (HP:0008338)

Term ID:

8338

Name:

Partial functional complement factor D deficiency

Synonym:

Partial functional adipsin deficiency; Partial functional factor d deficiency

Definition:

A partial reduction in level of the complement component Factor D in circulation.

Comments:

Reference:

HP:0008338

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 B (HP:0005416)

Decreased serum complement factor H (HP:0005369)

Decreased serum complement factor I (HP:0005356)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008338	HP:0008338	Partial functional complement factor D deficiency	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.