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
..Decreased circulating copper concentration (HP:0011967)

Term ID:

11967

Name:

Decreased circulating copper concentration

Synonym:

Copper deficiency; Hypocupremia; Reduced serum copper

Definition:

A reduced concentration of copper in the blood.

Comments:

Reference:

HP:0011967

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal urinary copper concentration (HP:0045036)

Aceruloplasminemia (HP:0025498)

Copper accumulation in brain (HP:0012676)

Copper accumulation in liver (HP:0025321)

Decreased circulating ceruloplasmin concentration (HP:0010837)

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:0011967	HP:0011967	Decreased circulating copper concentration	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011967	HP:0011967	Decreased circulating copper concentration	0	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome	HP:0040282 - Frequent
HP:0011967	HP:0011967	Decreased circulating copper concentration	0	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome	HP:0040282 - Frequent	1
HP:0011967	HP:0011967	Decreased circulating copper concentration	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0011967	HP:0011967	Decreased circulating copper concentration	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0011967	HP:0011967	Decreased circulating copper concentration	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq		2
HP:0011967	HP:0011967	Decreased circulating copper concentration	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent	115
HP:0011967	HP:0011967	Decreased circulating copper concentration	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0011967	HP:0011967	Decreased circulating copper concentration	0	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome	HP:0040282 - Frequent	65

Genes (7) :AP1B1 AP1S1 ATP6AP1 COG2 CP SLC33A1 TMPRSS6

Diseases (8) :OMIM:242150 ORPHA:171851 OMIM:300972 ORPHA:435934 OMIM:617395 ORPHA:48818 OMIM:614482 ORPHA:209981

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

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