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 circulating copper concentration (HP:0010836)

..Starting node
..Abnormal urinary copper concentration (HP:0045036)

Term ID:

45036

Name:

Abnormal urinary copper concentration

Synonym:

Abnormal urinary copper concentration

Definition:

Comments:

Reference:

HP:0045036

Genes and Diseases:

Child Nodes:

........

Increased urinary copper concentration (HP:0010839)

........

Decreased urinary copper concentration (HP:0045035)

Sister Nodes:

Aceruloplasminemia (HP:0025498)

Copper accumulation in brain (HP:0012676)

Copper accumulation in liver (HP:0025321)

Decreased circulating ceruloplasmin concentration (HP:0010837)

Decreased circulating copper concentration (HP:0011967)

High nonceruloplasmin-bound serum copper (HP:0010838)

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:0045036	HP:0045036	Abnormal urinary copper concentration	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	315
HP:0045036	HP:0045035	Decreased urinary copper concentration	1	CL E G H
HP:0045036	HP:0010839	Increased urinary copper concentration	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	315

Genes (1) :ATP7B

Diseases (1) :OMIM:277900

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