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:
Abnormality of the alternative complement pathway (HP:0005482)

..Starting node
..Dysfunctional alternative complement pathway (HP:0005423)

Term ID:

5423

Name:

Dysfunctional alternative complement pathway

Synonym:

Definition:

An abnormality of the functioning of any aspect of the alternative complement pathway.

Comments:

Reference:

HP:0005423

Genes and Diseases:

Child Nodes:

Sister Nodes:

Depletion of components of the alternative complement pathway (HP:0005389)

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:0005423	HP:0005423	Dysfunctional alternative complement pathway	0	CFP CL E G H	5199	8864	OMIM:312060	Properdin deficiency, X-linked	.	7

Genes (1) :CFP

Diseases (1) :OMIM:312060

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