Human Phenotype Ontology 
Grandparent Node:
expandAbnormal brainstem morphology (HP:0002363)help
Parent Node:
expandAbnormal brainstem MRI signal intensity (HP:0012747)help
..Starting node
..expandFocal T2 hypointense brainstem lesion (HP:0012749)help
Term ID: 12749
Name: Focal T2 hypointense brainstem lesion
Synonym:
Definition: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.
Comments:
Reference: HP:0012749
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFocal T2 hyperintense brainstem lesion (HP:0012748) help
..expandT2 hypointense brainstem (HP:0012750) 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:0012749HP:0012749Focal T2 hypointense brainstem lesion0CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent37
HP:0012749HP:0012749Focal T2 hypointense brainstem lesion0KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent92
HP:0012749HP:0012749Focal T2 hypointense brainstem lesion0PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent21


Genes (3) :CCM2 KRIT1 PDCD10

Diseases (1) :ORPHA:221061
 

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