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
..Decreased serum zinc (HP:0031831)

Term ID:

31831

Name:

Decreased serum zinc

Synonym:

Definition:

A reduced concentration of zinc in the blood.

Comments:

Reference:

HP:0031831

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased serum zinc (HP:0011424)

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:0031831	HP:0031831	Decreased serum zinc	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0031831	HP:0031831	Decreased serum zinc	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0031831	HP:0031831	Decreased serum zinc	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040281 - Very frequent
HP:0031831	HP:0031831	Decreased serum zinc	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0031831	HP:0031831	Decreased serum zinc	0	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal		3
HP:0031831	HP:0031831	Decreased serum zinc	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55

Genes (5) :COL7A1 IARS1 MMP1 SLC30A2 SLC39A4

Diseases (5) :ORPHA:89842 ORPHA:79408 ORPHA:541423 OMIM:608118 OMIM:201100

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