Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of thalamus morphology (HP:0010663)help
Parent Node:
expandAbnormal thalamic MRI signal intensity (HP:0012696)help
..Starting node
..expandFocal T2 hyperintense thalamic lesion (HP:0012692)help
Term ID: 12692
Name: Focal T2 hyperintense thalamic lesion
Synonym:
Definition: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.
Comments:
Reference: HP:0012692
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFocal T2 hypointense thalamic lesion (HP:0012691) help
..expandT2 hypointense thalamus (HP:0012690) 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:0012692HP:0012692Focal T2 hyperintense thalamic lesion0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0012692HP:0012692Focal T2 hyperintense thalamic lesion0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51


Genes (2) :COX10 PTCD3

Diseases (2) :OMIM:619046 OMIM:619057
 

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