Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the spinal cord (HP:0002143)help
Parent Node:
expandAbnormality of the spinocerebellar tracts (HP:0003133)help
..Starting node
..expandSpinocerebellar tract degeneration (HP:0002503)help
Term ID: 2503
Name: Spinocerebellar tract degeneration
Synonym: Degeneration of the spinocerebellar tracts; Spinocerebellar degeneration
Definition:
Comments:
Reference: HP:0002503
Genes and Diseases:
 
       Child Nodes:
........expandLate-onset spinocerebellar degeneration (HP:0006904) help
........expandSpinocerebellar tract disease in lower limbs (HP:0007232) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002503HP:0002503Spinocerebellar tract degeneration0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0002503HP:0002503Spinocerebellar tract degeneration0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002503HP:0002503Spinocerebellar tract degeneration0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0002503HP:0002503Spinocerebellar tract degeneration0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0002503HP:0002503Spinocerebellar tract degeneration0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0002503HP:0002503Spinocerebellar tract degeneration0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0002503HP:0002503Spinocerebellar tract degeneration0GCLC CL E G H27294311OMIM:230450Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto2
HP:0002503HP:0002503Spinocerebellar tract degeneration0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040281 - Very frequent2
HP:0002503HP:0002503Spinocerebellar tract degeneration0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002503HP:0002503Spinocerebellar tract degeneration0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0002503HP:0002503Spinocerebellar tract degeneration0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0002503HP:0002503Spinocerebellar tract degeneration0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0002503HP:0006904Late-onset spinocerebellar degeneration1GCLC CL E G H27294311OMIM:230450Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto.2
HP:0002503HP:0007232Spinocerebellar tract disease in lower limbs1MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136


Genes (8) :ATXN1 ATXN2 ATXN3 GCLC GJB1 MAN2B1 PLP1 TDP1

Diseases (12) :OMIM:164400 OMIM:183090 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:230450 ORPHA:33574 ORPHA:1175 OMIM:248500 OMIM:312920 ORPHA:94124
 

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