Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Atrophy/Degeneration affecting the central nervous system (HP:0007367)

..Starting node
..Neuronal loss in central nervous system (HP:0002529)

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:

Atrophy/Degeneration affecting the brainstem (HP:0007366)

Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)

Atrophy/Degeneration involving the spinal cord (HP:0007344)

Brain atrophy (HP:0012444)

Central nervous system degeneration (HP:0007009)

Increased cerebral lipofuscin (HP:0011813)

Motor neuron atrophy (HP:0007373)

Neurodegeneration (HP:0002180)

Senile plaques (HP:0100256)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	960	21701	614506
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	435	15832	606158
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	173	28337	614260
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	141	24537	609512
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	FIG4 CL E G H	9896	3472	Meningococcemia			ORPHA	1	749	16873	609390
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	FUS CL E G H	2521	608030	Amyotrophic lateral sclerosis type 6	608030	C1842675	OMIM	1	409	4010	137070
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	GRN CL E G H	2896	607485	Frontotemporal dementia, ubiquitin-positive	607485	C1843792	OMIM	1	417	4601	138945
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	735	4851	613004
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1678	18865	608167
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	206	26274	612803
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	1693	7897	607623
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	112	7981	601828
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	167	8820	131340
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	1	421	8957	311770
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	598	9039	603604
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	1917	9179	174763
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PRNP CL E G H	5621	282166				ORPHA	1	164	9449	176640
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	164	9449	176640
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	598	9498	176801
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SCO2 CL E G H	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	604377	C1858424	OMIM	1	514	10604	604272
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SERPINI1 CL E G H	5274	604218	Encephalopathy, familial, with neuroserpin inclusion bodies	604218	C1858680	OMIM	1	250	8943	602445
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	536	11079	300231
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	536	11079	300231
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SNCAIP CL E G H	9627	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	118	11139	603779
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	445	11581	604649
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	TBP CL E G H	6908	98759				ORPHA	1	116	11588	600075
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	116	11588	600075
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	VAC14 CL E G H	55697	3472	Meningococcemia			ORPHA	1	220	25507	604632
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	1	319	12649	605704
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	ZNHIT3 CL E G H	9326	260565	PEHO syndrome	260565	C1850055	OMIM	1	110	12309	604500
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	BSCL2 CL E G H	26580	363400				ORPHA	0	435	15832	606158
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375

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.

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