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 blood transition element cation concentration (HP:0011030)

Parent Node:
Abnormal blood zinc concentration (HP:0008277)

..Starting node
..Increased serum zinc (HP:0011424)

Term ID:

11424

Name:

Increased serum zinc

Synonym:

Hyperzincemia

Definition:

An increased consentration of zinc in the blood.

Comments:

Reference:

HP:0011424

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum zinc (HP:0031831)

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:0011424	HP:0011424	Increased serum zinc	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104

Genes (1) :SLC7A7

Diseases (1) :ORPHA:470

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