Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal cerebral morphology (HP:0002060)

Parent Node:
Cerebral inclusion bodies (HP:0100314)

..Starting node
..Lewy bodies (HP:0100315)

Term ID:

100315

Name:

Lewy bodies

Synonym:

Lewy body disease

Definition:

Comments:

Reference:

HP:0100315

Genes and Diseases:

Child Nodes:

Sister Nodes:

Argyrophilic inclusion bodies (HP:0100317)

Cerebral hyaline bodies (HP:0100319)

Hirano bodies (HP:0100316)

Lafora bodies (HP:0100318)

Neurofibrillary tangles (HP:0002185)

Rosenthal fibers (HP:0100320)

Ubiquitin-positive cerebral inclusion bodies (HP:0012083)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100315	HP:0100315	Lewy bodies	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0100315	HP:0100315	Lewy bodies	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0100315	HP:0100315	Lewy bodies	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0100315	HP:0100315	Lewy bodies	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0100315	HP:0100315	Lewy bodies	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100315	HP:0100315	Lewy bodies	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100315	HP:0100315	Lewy bodies	0	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18	.	2
HP:0100315	HP:0100315	Lewy bodies	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional	36
HP:0100315	HP:0100315	Lewy bodies	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0100315	HP:0100315	Lewy bodies	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0100315	HP:0100315	Lewy bodies	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0100315	HP:0100315	Lewy bodies	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0100315	HP:0100315	Lewy bodies	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0100315	HP:0100315	Lewy bodies	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0100315	HP:0100315	Lewy bodies	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0100315	HP:0100315	Lewy bodies	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0100315	HP:0100315	Lewy bodies	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0100315	HP:0100315	Lewy bodies	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0100315	HP:0100315	Lewy bodies	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0100315	HP:0100315	Lewy bodies	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0100315	HP:0100315	Lewy bodies	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.	65
HP:0100315	HP:0100315	Lewy bodies	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0100315	HP:0100315	Lewy bodies	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0100315	HP:0100315	Lewy bodies	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0100315	HP:0100315	Lewy bodies	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional	65
HP:0100315	HP:0100315	Lewy bodies	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0100315	HP:0100315	Lewy bodies	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.	2
HP:0100315	HP:0100315	Lewy bodies	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0100315	HP:0100315	Lewy bodies	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0100315	HP:0100315	Lewy bodies	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0100315	HP:0100315	Lewy bodies	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0100315	HP:0100315	Lewy bodies	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37

Genes (24) :ADH1C ATXN2 ATXN8OS C19ORF12 DNAJC13 EIF4G1 FBXO7 GBA1 GIGYF2 GLUD2 GRN LRRK2 MAPT NR4A2 PLA2G6 RAB39B SNCA SNCAIP SNCB TBP TIA1 TRNT VPS13C VPS35

Diseases (14) :OMIM:168600 OMIM:614298 ORPHA:411602 OMIM:614251 ORPHA:171695 OMIM:127750 OMIM:607485 OMIM:607060 OMIM:610217 OMIM:311510 OMIM:168601 OMIM:605543 OMIM:619133 OMIM:616840

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen