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
..expandFocal T2 hypointense basal ganglia lesion (HP:0012752)help
Term ID: 12752
Name: Focal T2 hypointense basal ganglia lesion
Synonym:
Definition: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.
Comments:
Reference: HP:0012752
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFocal T2 hyperintense basal ganglia lesion (HP:0007183) help
..expandT2 hypointense basal ganglia (HP:0012753) 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:0012752HP:0012752Focal T2 hypointense basal ganglia lesion0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0012752HP:0012752Focal T2 hypointense basal ganglia lesion0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127


Genes (2) :COQ8A NDUFS4

Diseases (2) :ORPHA:139485 OMIM:252010
 

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