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
..Elevated circulating transferrin concentration (HP:0032386)

Term ID:

32386

Name:

Elevated circulating transferrin concentration

Synonym:

Elevated transferrin level

Definition:

An abnormally increased concentration of transferrin in the blood circulation.

Comments:

Reference:

HP:0032386

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:0032386	HP:0032386	Elevated circulating transferrin concentration	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia	104

Genes (1) :ALB

Diseases (1) :OMIM:616000

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