Human Phenotype Ontology 
Grandparent Node:
expandAbnormal basal ganglia morphology (HP:0002134)help
Parent Node:
expandAbnormal basal ganglia MRI signal intensity (HP:0012751)help
..Starting node
..expandT2 hypointense basal ganglia (HP:0012753)help
Term ID: 12753
Name: T2 hypointense basal ganglia
Synonym:
Definition: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.
Comments:
Reference: HP:0012753
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFocal T2 hyperintense basal ganglia lesion (HP:0007183) help
..expandFocal T2 hypointense basal ganglia lesion (HP:0012752) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012753HP:0012753T2 hypointense basal ganglia0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent115
HP:0012753HP:0012753T2 hypointense basal ganglia0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0012753HP:0012753T2 hypointense basal ganglia0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321


Genes (3) :GCDH GLB1 VPS11

Diseases (3) :ORPHA:25 ORPHA:79255 OMIM:619637
 

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