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 basal ganglia morphology (HP:0002134)

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

..Starting node
..Globus pallidus calcification (HP:0031627)

Term ID:

31627

Name:

Globus pallidus calcification

Synonym:

Definition:

Pathological deposition of calcium salts in the globus pallidus.

Comments:

Reference:

HP:0031627

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eye of the tiger anomaly of globus pallidus (HP:0002454)

obsolete Iron accumulation in globus pallidus (HP:0012677)

Pallidal degeneration (HP:0007132)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031627	HP:0031627	Globus pallidus calcification	0	CL E G H

Genes (0) :

Diseases (0) :

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