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:
Abnormal circulating protein concentration (HP:0010876)

Parent Node:
Abnormal hepcidin level (HP:0031875)

..Starting node
..Elevated hepcidin level (HP:0031877)

Term ID:

31877

Name:

Elevated hepcidin level

Synonym:

Definition:

An abnormally increased concentration of hepcidin in the blood circulation.

Comments:

Reference:

HP:0031877

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased hepcidin level (HP:0031876)

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:0031877	HP:0031877	Elevated hepcidin level	0	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA	65

Genes (1) :TMPRSS6

Diseases (1) :OMIM:206200

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