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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Neuronal loss in central nervous system (HP:0002529)help
Term ID: 2529
Name: Neuronal loss in central nervous system
Synonym: Loss of brain cells; Neuronal loss; Neuronal loss in CNS
Definition:
Comments:
Reference: HP:0002529
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
..expandCentral nervous system degeneration (HP:0007009) help
..expandIncreased cerebral lipofuscin (HP:0011813) help
..expandMotor neuron atrophy (HP:0007373) help
..expandNeurodegeneration (HP:0002180) help
..expandSenile plaques (HP:0100256) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002529HP:0002529Neuronal loss in central nervous system0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0002529HP:0002529Neuronal loss in central nervous system0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM143515832606158
HP:0002529HP:0002529Neuronal loss in central nervous system0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002529HP:0002529Neuronal loss in central nervous system0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM114124537609512
HP:0002529HP:0002529Neuronal loss in central nervous system0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002529HP:0002529Neuronal loss in central nervous system0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002529HP:0002529Neuronal loss in central nervous system0FIG4 CL E G H98963472MeningococcemiaORPHA174916873609390
HP:0002529HP:0002529Neuronal loss in central nervous system0FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM14094010137070
HP:0002529HP:0002529Neuronal loss in central nervous system0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002529HP:0002529Neuronal loss in central nervous system0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0002529HP:0002529Neuronal loss in central nervous system0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0002529HP:0002529Neuronal loss in central nervous system0MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM15146893157140
HP:0002529HP:0002529Neuronal loss in central nervous system0MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15146893157140
HP:0002529HP:0002529Neuronal loss in central nervous system0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002529HP:0002529Neuronal loss in central nervous system0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0002529HP:0002529Neuronal loss in central nervous system0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM116937897607623
HP:0002529HP:0002529Neuronal loss in central nervous system0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11127981601828
HP:0002529HP:0002529Neuronal loss in central nervous system0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11678820131340
HP:0002529HP:0002529Neuronal loss in central nervous system0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0002529HP:0002529Neuronal loss in central nervous system0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002529HP:0002529Neuronal loss in central nervous system0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002529HP:0002529Neuronal loss in central nervous system0PRNP CL E G H5621282166ORPHA11649449176640
HP:0002529HP:0002529Neuronal loss in central nervous system0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0002529HP:0002529Neuronal loss in central nervous system0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15989498176801
HP:0002529HP:0002529Neuronal loss in central nervous system0PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM14529508104311
HP:0002529HP:0002529Neuronal loss in central nervous system0PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14529508104311
HP:0002529HP:0002529Neuronal loss in central nervous system0SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM151410604604272
HP:0002529HP:0002529Neuronal loss in central nervous system0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12508943602445
HP:0002529HP:0002529Neuronal loss in central nervous system0SLC9A6 CL E G H1047985278ORPHA153611079300231
HP:0002529HP:0002529Neuronal loss in central nervous system0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM153611079300231
HP:0002529HP:0002529Neuronal loss in central nervous system0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM111811139603779
HP:0002529HP:0002529Neuronal loss in central nervous system0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0002529HP:0002529Neuronal loss in central nervous system0TBP CL E G H690898759ORPHA111611588600075
HP:0002529HP:0002529Neuronal loss in central nervous system0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002529HP:0002529Neuronal loss in central nervous system0VAC14 CL E G H556973472MeningococcemiaORPHA122025507604632
HP:0002529HP:0002529Neuronal loss in central nervous system0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM131912649605704
HP:0002529HP:0002529Neuronal loss in central nervous system0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM111012309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002529HP:0002529Neuronal loss in central nervous system0BSCL2 CL E G H26580363400ORPHA043515832606158
HP:0002529HP:0002529Neuronal loss in central nervous system0DNMT1 CL E G H1786314404ORPHA09952976126375


Genes (33) :BRAT1 BSCL2 C9ORF72 C9orf72 CHMP2B CSF1R CTSD DNMT1 FIG4 FUS GRN HTT KCNT1 MAPT NARS2 NPC1 NR4A2 PDYN PIGA PLA2G6 POLG PRNP PSAP PSEN1 SCO2 SERPINI1 SLC9A6 SNCAIP TBCD TBP VAC14 VAPB ZNHIT3

Diseases (35) :614498 363400 615924 105550 600795 221820 610127 314404 3472 608030 607485 143100 614959 600274 172700 601104 616239 257220 168600 610245 300868 256600 203700 282166 600072 611721 604377 604218 85278 300243 617193 98759 607136 608627 260565
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.