Term ID: |
32395 |
Name: |
Curvilinear subcortical heterotopia |
Synonym: |
Giant heterotopia |
Definition: |
Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. |
Comments: |
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Reference: |
HP:0032395 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0032395 | HP:0032395 | Curvilinear subcortical heterotopia | 0 | CL E G H | | | | | | | | | | |
Genes (0) :
Diseases (0) : |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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