Human Phenotype Ontology 
Grandparent Node:
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Cerebellar malformation (HP:0002438)help
Parent Node:
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Abnormal cerebellar vermis morphology (HP:0002334)help
..Starting node
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Loss of Purkinje cells in the cerebellar vermis (HP:0007001)help
Term ID: 7001
Name: Loss of Purkinje cells in the cerebellar vermis
Synonym:
Definition:
Comments:
Reference: HP:0007001
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia of the cerebellar vermis (HP:0006817) help
..expandCerebellar vermis atrophy (HP:0006855) help
..expandDisorganization of the anterior cerebellar vermis (HP:0007065) help
..expandDysgenesis of the cerebellar vermis (HP:0002195) help
..expandDysmorphic inferior cerebellar vermis (HP:0012460) 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:0007001HP:0007001Loss of Purkinje cells in the cerebellar vermis0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0007001HP:0007001Loss of Purkinje cells in the cerebellar vermis0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0007001HP:0007001Loss of Purkinje cells in the cerebellar vermis0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0007001HP:0007001Loss of Purkinje cells in the cerebellar vermis0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0007001HP:0007001Loss of Purkinje cells in the cerebellar vermis0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4.102


Genes (5) :ATXN1 CACNA1G NOP56 SACS TSEN54

Diseases (5) :ORPHA:98755 OMIM:616795 ORPHA:276198 OMIM:270550 OMIM:225753
 

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