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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Spinocerebellar atrophy (HP:0007263)help
Term ID: 7263
Name: Spinocerebellar atrophy
Synonym:
Definition: Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.
Comments:
Reference: HP:0007263
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar cortical atrophy (HP:0008278) help
..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
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007263HP:0007263Spinocerebellar atrophy0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0007263HP:0007263Spinocerebellar atrophy0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0007263HP:0007263Spinocerebellar atrophy0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome.103


Genes (3) :ATXN1 PEX6 PNPLA6

Diseases (3) :OMIM:164400 ORPHA:95433 OMIM:215470
 

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