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:
Abnormal cerebral morphology (HP:0002060)

Parent Node:
Cerebral inclusion bodies (HP:0100314)

..Starting node
..Neurofibrillary tangles (HP:0002185)

Term ID:

2185

Name:

Neurofibrillary tangles

Synonym:

Neurofibrillary tangles composed of disordered microtubules in neurons; Paired helical filaments

Definition:

Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.

Comments:

Reference:

HP:0002185

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)

Lewy bodies (HP:0100315)

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:0002185	HP:0002185	Neurofibrillary tangles	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.	3
HP:0002185	HP:0002185	Neurofibrillary tangles	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0002185	HP:0002185	Neurofibrillary tangles	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2		39
HP:0002185	HP:0002185	Neurofibrillary tangles	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0002185	HP:0002185	Neurofibrillary tangles	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0002185	HP:0002185	Neurofibrillary tangles	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.	74
HP:0002185	HP:0002185	Neurofibrillary tangles	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	74
HP:0002185	HP:0002185	Neurofibrillary tangles	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0002185	HP:0002185	Neurofibrillary tangles	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002185	HP:0002185	Neurofibrillary tangles	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.	38
HP:0002185	HP:0002185	Neurofibrillary tangles	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0002185	HP:0002185	Neurofibrillary tangles	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002185	HP:0002185	Neurofibrillary tangles	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.	11
HP:0002185	HP:0002185	Neurofibrillary tangles	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.	8
HP:0002185	HP:0002185	Neurofibrillary tangles	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0002185	HP:0002185	Neurofibrillary tangles	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0002185	HP:0002185	Neurofibrillary tangles	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0002185	HP:0002185	Neurofibrillary tangles	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0002185	HP:0002185	Neurofibrillary tangles	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.	50
HP:0002185	HP:0002185	Neurofibrillary tangles	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0002185	HP:0002185	Neurofibrillary tangles	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0002185	HP:0002185	Neurofibrillary tangles	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	241
HP:0002185	HP:0002185	Neurofibrillary tangles	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0002185	HP:0002185	Neurofibrillary tangles	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	59
HP:0002185	HP:0002185	Neurofibrillary tangles	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0002185	HP:0002185	Neurofibrillary tangles	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0002185	HP:0002185	Neurofibrillary tangles	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	31
HP:0002185	HP:0002185	Neurofibrillary tangles	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8

Genes (21) :ABCA7 APOE APP CYLD GRN HFE ITM2B MAPT MPO NOS3 NPC1 NPC2 PLA2G6 PLAU PRNP PSEN1 PSEN2 SORL1 TOMM40 TREM2 VPS13C

Diseases (16) :OMIM:608907 ORPHA:1020 OMIM:104310 OMIM:607822 OMIM:606889 OMIM:104300 OMIM:619132 OMIM:607485 OMIM:117300 OMIM:601104 OMIM:257220 OMIM:607625 ORPHA:199351 OMIM:610217 OMIM:137440 OMIM:616840

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

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