Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the basal ganglia (HP:0002134)help
Parent Node:
expandAbnormal globus pallidus morphology (HP:0002453)help
..Starting node
..expandEye of the tiger anomaly of globus pallidus (HP:0002454)help
Term ID: 2454
Name: Eye of the tiger anomaly of globus pallidus
Synonym:
Definition: The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.
Comments:
Reference: HP:0002454
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGlobus pallidus calcification (HP:0031627) help
..expandIron accumulation in globus pallidus (HP:0012677) help
..expandPallidal degeneration (HP:0007132) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002454HP:0002454Eye of the tiger anomaly of globus pallidus0COASY CL E G H80347397725ORPHA128129932609855
HP:0002454HP:0002454Eye of the tiger anomaly of globus pallidus0PANK2 CL E G H80025216866ORPHA149915894606157
HP:0002454HP:0002454Eye of the tiger anomaly of globus pallidus0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0002454HP:0002454Eye of the tiger anomaly of globus pallidus0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :COASY PANK2

Diseases (4) :397725 216866 607236 234200
 

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