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 cortical atrophy (HP:0008278)help
Term ID: 8278
Name: Cerebellar cortical atrophy
Synonym: Cerebellar cortex degeneration
Definition: Atrophy (wasting) of the cerebellar cortex.
Comments:
Reference: HP:0008278
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar granular layer atrophy (HP:0012080) help
..expandCerebellar Purkinje layer atrophy (HP:0012082) 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:0008278HP:0008278Cerebellar cortical atrophy0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0008278HP:0008278Cerebellar cortical atrophy0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0008278HP:0008278Cerebellar cortical atrophy0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0008278HP:0008278Cerebellar cortical atrophy0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0008278HP:0008278Cerebellar cortical atrophy0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF


Genes (5) :PLAA SC5D SHANK3 SIL1 ZPR1

Diseases (5) :ORPHA:521426 ORPHA:46059 ORPHA:48652 OMIM:248800 OMIM:619321
 

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