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

..Starting node
..Decreased circulating C1-esterase inhibitor concentration (HP:0034204)

Term ID:

34204

Name:

Decreased circulating C1-esterase inhibitor concentration

Synonym:

Definition:

Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation.

Comments:

Reference:

HP:0034204

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034204	HP:0034204	Decreased circulating C1-esterase inhibitor concentration	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	64

Genes (1) :SERPING1

Diseases (1) :OMIM:106100

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