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
..Copper accumulation in liver (HP:0025321)

Term ID:

25321

Name:

Copper accumulation in liver

Synonym:

Liver copper accumulation

Definition:

An anomalous build up of copper (Cu) in the liver.

Comments:

Reference:

HP:0025321

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal urinary copper concentration (HP:0045036)

Aceruloplasminemia (HP:0025498)

Copper accumulation in brain (HP:0012676)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025321	HP:0025321	Copper accumulation in liver	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0025321	HP:0025321	Copper accumulation in liver	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0025321	HP:0025321	Copper accumulation in liver	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0025321	HP:0025321	Copper accumulation in liver	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2

Genes (4) :CCDC115 FARS2 SLC30A10 SLC51B

Diseases (4) :OMIM:616828 OMIM:614946 ORPHA:309854 OMIM:619481

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