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:
Abnormality of iron homeostasis (HP:0011031)

Parent Node:
Abnormal circulating ferritin concentration (HP:0040133)

..Starting node
..Decreased circulating ferritin concentration (HP:0012343)

Term ID:

12343

Name:

Decreased circulating ferritin concentration

Synonym:

Decreased plasma ferritin; Decreased serum ferritin; Low ferritin level; Reduced serum ferritin

Definition:

Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.

Comments:

Reference:

HP:0012343

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating ferritin concentration (HP:0003281)

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:0012343	HP:0012343	Decreased circulating ferritin concentration	0	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0012343	HP:0012343	Decreased circulating ferritin concentration	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0012343	HP:0012343	Decreased circulating ferritin concentration	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040281 - Very frequent	33
HP:0012343	HP:0012343	Decreased circulating ferritin concentration	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0012343	HP:0012343	Decreased circulating ferritin concentration	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42

Genes (3) :FTL GFER SLC30A10

Diseases (5) :OMIM:615604 OMIM:606159 ORPHA:157846 ORPHA:330054 ORPHA:309854

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