Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebellum morphology (HP:0001317)help
Parent Node:
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Cerebellar atrophy (HP:0001272)help
..Starting node
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Cerebellar Purkinje layer atrophy (HP:0012082)help
Term ID: 12082
Name: Cerebellar Purkinje layer atrophy
Synonym:
Definition: Atrophy of the cerebellum affecting primarily the Purkinje cell layer.
Comments:
Reference: HP:0012082
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar cortical atrophy (HP:0008278) help
..expandCerebellar granular layer atrophy (HP:0012080) help
..expandDiffuse cerebellar atrophy (HP:0100275) help
..expandPontocerebellar atrophy (HP:0006879) help
..expandSpinocerebellar atrophy (HP:0007263) 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:0012082HP:0012082Cerebellar Purkinje layer atrophy0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0012082HP:0012082Cerebellar Purkinje layer atrophy0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7


Genes (2) :ATXN2 TBP

Diseases (2) :ORPHA:98756 ORPHA:98759
 

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