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 transferrin saturation (HP:0040135)

..Starting node
..Decreased transferrin saturation (HP:0012464)

Term ID:

12464

Name:

Decreased transferrin saturation

Synonym:

Definition:

A below normal level of saturation of serum transferrin with iron.

Comments:

Reference:

HP:0012464

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated transferrin saturation (HP:0012463)

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:0012464	HP:0012464	Decreased transferrin saturation	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0012464	HP:0012464	Decreased transferrin saturation	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040281 - Very frequent	1

Genes (2) :BCS1L STEAP3

Diseases (2) :ORPHA:53693 ORPHA:300298

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