Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the cerebral subcortex (HP:0010993)help
Parent Node:
expand
Abnormality of the basal ganglia (HP:0002134)help
..Starting node
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Abnormal globus pallidus morphology (HP:0002453)help
Term ID: 2453
Name: Abnormal globus pallidus morphology
Synonym:
Definition: An abnormality of the globus pallidus.
Comments:
Reference: HP:0002453
Genes and Diseases:
 
       Child Nodes:
........expandEye of the tiger anomaly of globus pallidus (HP:0002454) help
........expandPallidal degeneration (HP:0007132) help
........expandIron accumulation in globus pallidus (HP:0012677) help
........expandGlobus pallidus calcification (HP:0031627) help

 Sister Nodes: 
..expandAbnormal basal ganglia MRI signal intensity (HP:0012751) help
..expandAbnormal corpus striatum morphology (HP:0010994) help
..expandAbnormal substantia nigra morphology (HP:0045007) help
..expandBasal ganglia calcification (HP:0002135) help
..expandBasal ganglia cysts (HP:0006799) help
..expandBasal ganglia edema (HP:0025039) help
..expandBasal ganglia gliosis (HP:0006999) help
..expandBasal ganglia necrosis (HP:0012128) help
..expandBilateral basal ganglia lesions (HP:0007146) help
..expandCavitation of the basal ganglia (HP:0007007) help
..expandDysgenesis of the basal ganglia (HP:0025102) help
..expandHemiballismus (HP:0100248) help
..expandLarge basal ganglia (HP:0007048) help
..expandNeuronal loss in basal ganglia (HP:0200147) help
..expandSmall basal ganglia (HP:0012697) help
..expandStatus cribrosum (HP:0025012) help
..expandSymmetric lesions of the basal ganglia (HP:0007039) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002453HP:0002453Abnormal globus pallidus morphology0C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002453HP:0002453Abnormal globus pallidus morphology0KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0002453HP:0002453Abnormal globus pallidus morphology0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0002453HP:0002453Abnormal globus pallidus morphology0SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0002453HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002453HP:0031627Globus pallidus calcification1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002453HP:0002454Eye of the tiger anomaly of globus pallidus1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002453HP:0007132Pallidal degeneration1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002453HP:0012677Iron accumulation in globus pallidus1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002453HP:0002454Eye of the tiger anomaly of globus pallidus1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0002453HP:0007132Pallidal degeneration1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0002453HP:0012677Iron accumulation in globus pallidus1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0002453HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0002453HP:0031627Globus pallidus calcification1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0002453HP:0007132Pallidal degeneration1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0002453HP:0002454Eye of the tiger anomaly of globus pallidus1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0002453HP:0012677Iron accumulation in globus pallidus1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0002453HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0002453HP:0031627Globus pallidus calcification1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0002453HP:0002454Eye of the tiger anomaly of globus pallidus1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0002453HP:0007132Pallidal degeneration1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0002453HP:0012677Iron accumulation in globus pallidus1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0002453HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0002453HP:0031627Globus pallidus calcification1SLC30A10 CL E G H55532309854ORPHA127525355611146
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002453HP:0002453Abnormal globus pallidus morphology0CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0002453HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0002453HP:0031627Globus pallidus calcification1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0002453HP:0007132Pallidal degeneration1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0002453HP:0002454Eye of the tiger anomaly of globus pallidus1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0002453HP:0012677Iron accumulation in globus pallidus1CYP2U1 CL E G H113612320411ORPHA029120582610670


Genes (9) :C19ORF12 C19orf12 COASY CYP2U1 FA2H KCNQ2 MMUT PANK2 SLC30A10

Diseases (10) :289560 320411 439218 251000 309854 397725 171629 216866 607236 234200
 

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