Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the basal ganglia (HP:0002134)help
Parent Node:
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Abnormal basal ganglia MRI signal intensity (HP:0012751)help
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Focal T2 hyperintense basal ganglia lesion (HP:0007183)help
Term ID: 7183
Name: Focal T2 hyperintense basal ganglia lesion
Synonym: Hyperintense lesions in the basal ganglia on MRI
Definition: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.
Comments:
Reference: HP:0007183
Genes and Diseases:
 
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..expandFocal T2 hypointense basal ganglia lesion (HP:0012752) help
..expandT2 hypointense basal ganglia (HP:0012753) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0COX15 CL E G H1355255241ORPHA13572263603646
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0MTFMT CL E G H123263255241ORPHA124329666611766
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0PET100 CL E G H100131801255241ORPHA17640038614770
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0PRNP CL E G H5621282166ORPHA11919449176640
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0SDHA CL E G H6389255241ORPHA1250310680600857
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0SURF1 CL E G H6834255241ORPHA153211474185620
HP:0007183HP:0007183Focal T2 hyperintense basal ganglia lesion0TACO1 CL E G H51204255241ORPHA111724316612958
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (30) :COX15 ECHS1 ETHE1 FOXRED1 LIPT1 MTFMT NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 PDHA1 PET100 PRNP SDHA SLC19A3 SURF1 TACO1

Diseases (3) :255241 602473 282166
 

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