Human Phenotype Ontology 
Grandparent Node:
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Abnormal forebrain morphology (HP:0100547)help
Parent Node:
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Abnormal cerebral morphology (HP:0002060)help
..Starting node
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Granulovacuolar degeneration (HP:0002528)help
Term ID: 2528
Name: Granulovacuolar degeneration
Synonym:
Definition: Electron-dense granules within double membrane-bound cytoplasmic vacuoles.
Comments:
Reference: HP:0002528
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cerebral cortex morphology (HP:0002538) help
..expandAbnormal cerebral subcortex morphology (HP:0010993) help
..expandAbnormal septum pellucidum morphology (HP:0007375) help
..expandAplasia/Hypoplasia of the cerebrum (HP:0007364) help
..expandAtrophy/Degeneration affecting the cerebrum (HP:0007369) help
..expandCerebral calcification (HP:0002514) help
..expandCerebral edema (HP:0002181) help
..expandCerebral granulomatosis (HP:0100313) help
..expandCerebral inclusion bodies (HP:0100314) help
..expandDiffuse cerebral sclerosis (HP:0006918) help
..expandEncephalomalacia (HP:0040197) help
..expandLeukoencephalopathy (HP:0002352) help
..expandMegalencephaly (HP:0001355) help
..expandPorencephalic cyst (HP:0002132) help
..expandSchizencephaly (HP:0010636) 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:0002528HP:0002528Granulovacuolar degeneration0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140


Genes (1) :MAPT

Diseases (1) :OMIM:601104
 

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