Human Phenotype Ontology 
Grandparent Node:
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Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
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Atrophy/Degeneration affecting the central nervous system (HP:0007367)help
..Starting node
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Central nervous system degeneration (HP:0007009)help
Term ID: 7009
Name: Central nervous system degeneration
Synonym: CNS degeneration
Definition:
Comments:
Reference: HP:0007009
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtrophy/Degeneration affecting the brainstem (HP:0007366) help
..expandAtrophy/Degeneration involving the corticospinal tracts (HP:0007372) help
..expandAtrophy/Degeneration involving the spinal cord (HP:0007344) help
..expandBrain atrophy (HP:0012444) help
..expandIncreased cerebral lipofuscin (HP:0011813) help
..expandMotor neuron atrophy (HP:0007373) help
..expandNeurodegeneration (HP:0002180) help
..expandNeuronal loss in central nervous system (HP:0002529) help
..expandSenile plaques (HP:0100256) 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:0007009HP:0007009Central nervous system degeneration0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040283 - Occasional90
HP:0007009HP:0007009Central nervous system degeneration0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0007009HP:0007009Central nervous system degeneration0TPI1 CL E G H716712009ORPHA:868Triose phosphate-isomerase deficiencyHP:0040281 - Very frequent28
HP:0007009HP:0007009Central nervous system degeneration0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56


Genes (4) :ABHD5 PRNP TPI1 TREX1

Diseases (4) :ORPHA:98907 ORPHA:282166 ORPHA:868 OMIM:192315
 

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