Human Phenotype Ontology 
Grandparent Node:
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Hyperintensity of cerebral white matter on MRI (HP:0030890)help
Parent Node:
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Abnormal periventricular white matter morphology (HP:0002518)help
Parent Node:
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Periventricular white matter hyperintensities (HP:0030891)help
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Punctate periventricular T2 hyperintense foci (HP:0030081)help
Term ID: 30081
Name: Punctate periventricular T2 hyperintense foci
Synonym:
Definition: Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.
Comments:
Reference: HP:0030081
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSubtentorial periventricular white matter hyperdensity (HP:0025192) 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:0030081HP:0030081Punctate periventricular T2 hyperintense foci0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0030081HP:0030081Punctate periventricular T2 hyperintense foci0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0030081HP:0030081Punctate periventricular T2 hyperintense foci0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0030081HP:0030081Punctate periventricular T2 hyperintense foci0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0030081HP:0030081Punctate periventricular T2 hyperintense foci0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040283 - Occasional69
HP:0030081HP:0030081Punctate periventricular T2 hyperintense foci0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0030081HP:0030081Punctate periventricular T2 hyperintense foci0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0030081HP:0030081Punctate periventricular T2 hyperintense foci0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81


Genes (4) :ARSA CNP GM2A PSAP

Diseases (5) :ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:619071 ORPHA:309246
 

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