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 brain morphology (HP:0012443)

Parent Node:
Abnormal globus pallidus morphology (HP:0002453)

Parent Node:
Iron accumulation in brain (HP:0012675)

..Starting node
..Iron accumulation in globus pallidus (HP:0012677)

Term ID:

12677

Name:

Iron accumulation in globus pallidus

Synonym:

Definition:

An abnormal build up of iron (Fe) in the globus pallidus.

Comments:

Reference:

HP:0012677

Genes and Diseases:

Child Nodes:

Sister Nodes:

Iron accumulation in substantia nigra (HP:0012678)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012677	HP:0012677	Iron accumulation in globus pallidus	0	FA2H CL E G H	79152	171629	ORPHA	0	381	21197	611026

Genes (1) :FA2H

Diseases (1) :171629

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.