Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cation concentration (HP:0010929)

Parent Node:
Abnormal blood transition element cation concentration (HP:0011030)

..Starting node
..Abnormal blood zinc concentration (HP:0008277)

Term ID:

8277

Name:

Abnormal blood zinc concentration

Synonym:

Abnormal zinc metabolism; Abnormality of zinc homeostasis

Definition:

An abnormality of zinc ion homeostasis.

Comments:

Reference:

HP:0008277

Genes and Diseases:

Child Nodes:

........

Increased serum zinc (HP:0011424)

........

Decreased serum zinc (HP:0031831)

Sister Nodes:

Abnormal circulating copper concentration (HP:0010836)

Abnormality of iron homeostasis (HP:0011031)

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:0008277	HP:0008277	Abnormal blood zinc concentration	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0008277	HP:0008277	Abnormal blood zinc concentration	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0008277	HP:0008277	Abnormal blood zinc concentration	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0008277	HP:0008277	Abnormal blood zinc concentration	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0008277	HP:0008277	Abnormal blood zinc concentration	0	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal		3
HP:0008277	HP:0008277	Abnormal blood zinc concentration	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0008277	HP:0008277	Abnormal blood zinc concentration	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040281 - Very frequent	11
HP:0008277	HP:0008277	Abnormal blood zinc concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0008277	HP:0031831	Decreased serum zinc	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0008277	HP:0031831	Decreased serum zinc	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0008277	HP:0031831	Decreased serum zinc	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040281 - Very frequent
HP:0008277	HP:0031831	Decreased serum zinc	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0008277	HP:0031831	Decreased serum zinc	1	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal		3
HP:0008277	HP:0031831	Decreased serum zinc	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0008277	HP:0011424	Increased serum zinc	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104

Genes (7) :COL7A1 IARS1 MMP1 SLC30A2 SLC39A4 SLC39A8 SLC7A7

Diseases (7) :ORPHA:89842 ORPHA:79408 ORPHA:541423 OMIM:608118 OMIM:201100 ORPHA:468699 ORPHA:470

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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