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:
Cognitive impairment (HP:0100543)

Parent Node:
Mental deterioration (HP:0001268)

..Starting node
..Dementia (HP:0000726)

Term ID:

726

Name:

Dementia

Synonym:

Dementia; Dementia, progressive; Progressive dementia

Definition:

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.

Comments:

Reference:

HP:0000726

Genes and Diseases:

Child Nodes:

........

Frontal lobe dementia (HP:0000727)

........

Frontotemporal dementia (HP:0002145)

................... HP:0030219 Semantic dementia

........

Frontolimbic dementia (HP:0002439)

........

Subcortical dementia (HP:0007123)

Sister Nodes:

Motor deterioration (HP:0002333)

Progressive neurologic deterioration (HP:0002344)

Psychomotor deterioration (HP:0002361)

Social and occupational deterioration (HP:0007086)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000726	HP:0000726	Dementia	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000726	HP:0000726	Dementia	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.		143
HP:0000726	HP:0000726	Dementia	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0000726	HP:0000726	Dementia	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0000726	HP:0000726	Dementia	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0000726	HP:0000726	Dementia	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.		4
HP:0000726	HP:0000726	Dementia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0000726	HP:0000726	Dementia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0000726	HP:0000726	Dementia	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.		39
HP:0000726	HP:0000726	Dementia	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0000726	HP:0000726	Dementia	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0000726	HP:0000726	Dementia	0	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040281 - Very frequent		74
HP:0000726	HP:0000726	Dementia	0	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type	HP:0040281 - Very frequent		74
HP:0000726	HP:0000726	Dementia	0	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type	HP:0040282 - Frequent		74
HP:0000726	HP:0000726	Dementia	0	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent		74
HP:0000726	HP:0000726	Dementia	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.		74
HP:0000726	HP:0000726	Dementia	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.		74
HP:0000726	HP:0000726	Dementia	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0000726	HP:0000726	Dementia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0000726	HP:0000726	Dementia	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0000726	HP:0000726	Dementia	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0000726	HP:0000726	Dementia	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0000726	HP:0000726	Dementia	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia			16
HP:0000726	HP:0000726	Dementia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040284 - Very rare		100
HP:0000726	HP:0000726	Dementia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0000726	HP:0000726	Dementia	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent		100
HP:0000726	HP:0000726	Dementia	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000726	HP:0000726	Dementia	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000726	HP:0000726	Dementia	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0000726	HP:0000726	Dementia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0000726	HP:0000726	Dementia	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0000726	HP:0000726	Dementia	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0000726	HP:0000726	Dementia	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0000726	HP:0000726	Dementia	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0000726	HP:0000726	Dementia	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0000726	HP:0000726	Dementia	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.		11
HP:0000726	HP:0000726	Dementia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000726	HP:0000726	Dementia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0000726	HP:0000726	Dementia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0000726	HP:0000726	Dementia	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0000726	HP:0000726	Dementia	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0000726	HP:0000726	Dementia	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0000726	HP:0000726	Dementia	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0000726	HP:0000726	Dementia	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0000726	HP:0000726	Dementia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0000726	HP:0000726	Dementia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000726	HP:0000726	Dementia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0000726	HP:0000726	Dementia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		56
HP:0000726	HP:0000726	Dementia	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0000726	HP:0000726	Dementia	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0000726	HP:0000726	Dementia	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.		1
HP:0000726	HP:0000726	Dementia	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.		6
HP:0000726	HP:0000726	Dementia	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0000726	HP:0000726	Dementia	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000726	HP:0000726	Dementia	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0000726	HP:0000726	Dementia	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0000726	HP:0000726	Dementia	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0000726	HP:0000726	Dementia	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		42
HP:0000726	HP:0000726	Dementia	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0000726	HP:0000726	Dementia	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0000726	HP:0000726	Dementia	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000726	HP:0000726	Dementia	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.		143
HP:0000726	HP:0000726	Dementia	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional		111
HP:0000726	HP:0000726	Dementia	0	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL			193
HP:0000726	HP:0000726	Dementia	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0000726	HP:0000726	Dementia	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0000726	HP:0000726	Dementia	0	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI	.		3
HP:0000726	HP:0000726	Dementia	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0000726	HP:0000726	Dementia	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		51
HP:0000726	HP:0000726	Dementia	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0000726	HP:0000726	Dementia	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.		273
HP:0000726	HP:0000726	Dementia	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0000726	HP:0000726	Dementia	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0000726	HP:0000726	Dementia	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040283 - Occasional		86
HP:0000726	HP:0000726	Dementia	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0000726	HP:0000726	Dementia	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0000726	HP:0000726	Dementia	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional		82
HP:0000726	HP:0000726	Dementia	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		2
HP:0000726	HP:0000726	Dementia	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.		155
HP:0000726	HP:0000726	Dementia	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0000726	HP:0000726	Dementia	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0000726	HP:0000726	Dementia	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0000726	HP:0000726	Dementia	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	HP:0003581 - Adult onset	145
HP:0000726	HP:0000726	Dementia	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		2
HP:0000726	HP:0000726	Dementia	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0000726	HP:0000726	Dementia	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0000726	HP:0000726	Dementia	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0000726	HP:0000726	Dementia	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000726	HP:0000726	Dementia	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0000726	HP:0000726	Dementia	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional		36
HP:0000726	HP:0000726	Dementia	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000726	HP:0000726	Dementia	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent		30
HP:0000726	HP:0000726	Dementia	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0000726	HP:0000726	Dementia	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0000726	HP:0000726	Dementia	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000726	HP:0000726	Dementia	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0000726	HP:0000726	Dementia	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0000726	HP:0000726	Dementia	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0000726	HP:0000726	Dementia	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare
HP:0000726	HP:0000726	Dementia	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0000726	HP:0000726	Dementia	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0000726	HP:0000726	Dementia	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional		30
HP:0000726	HP:0000726	Dementia	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040283 - Occasional		86
HP:0000726	HP:0000726	Dementia	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0000726	HP:0000726	Dementia	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		8
HP:0000726	HP:0000726	Dementia	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0000726	HP:0000726	Dementia	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0000726	HP:0000726	Dementia	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0000726	HP:0000726	Dementia	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0000726	HP:0000726	Dementia	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0000726	HP:0000726	Dementia	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		126
HP:0000726	HP:0000726	Dementia	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.		38
HP:0000726	HP:0000726	Dementia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0000726	HP:0000726	Dementia	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0000726	HP:0000726	Dementia	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0000726	HP:0000726	Dementia	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0000726	HP:0000726	Dementia	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0000726	HP:0000726	Dementia	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	.		34
HP:0000726	HP:0000726	Dementia	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0000726	HP:0000726	Dementia	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		39
HP:0000726	HP:0000726	Dementia	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.		12
HP:0000726	HP:0000726	Dementia	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent		12
HP:0000726	HP:0000726	Dementia	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.		99
HP:0000726	HP:0000726	Dementia	0	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.		3
HP:0000726	HP:0000726	Dementia	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.		3
HP:0000726	HP:0000726	Dementia	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.		2
HP:0000726	HP:0000726	Dementia	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional		2
HP:0000726	HP:0000726	Dementia	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0000726	HP:0000726	Dementia	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		1
HP:0000726	HP:0000726	Dementia	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040284 - Very rare		44
HP:0000726	HP:0000726	Dementia	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		221
HP:0000726	HP:0000726	Dementia	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.		221
HP:0000726	HP:0000726	Dementia	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0000726	HP:0000726	Dementia	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.		140
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040283 - Occasional		140
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		140
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.		140
HP:0000726	HP:0000726	Dementia	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0000726	HP:0000726	Dementia	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	HP:0040283 - Occasional		80
HP:0000726	HP:0000726	Dementia	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040284 - Very rare		80
HP:0000726	HP:0000726	Dementia	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0000726	HP:0000726	Dementia	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0000726	HP:0000726	Dementia	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000726	HP:0000726	Dementia	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.		11
HP:0000726	HP:0000726	Dementia	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0000726	HP:0000726	Dementia	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0000726	HP:0000726	Dementia	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0000726	HP:0000726	Dementia	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.		8
HP:0000726	HP:0000726	Dementia	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0000726	HP:0000726	Dementia	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000726	HP:0000726	Dementia	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0000726	HP:0000726	Dementia	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0000726	HP:0000726	Dementia	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0000726	HP:0000726	Dementia	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0000726	HP:0000726	Dementia	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0000726	HP:0000726	Dementia	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.		27
HP:0000726	HP:0000726	Dementia	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0000726	HP:0000726	Dementia	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.		55
HP:0000726	HP:0000726	Dementia	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0000726	HP:0000726	Dementia	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		23
HP:0000726	HP:0000726	Dementia	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.		9
HP:0000726	HP:0000726	Dementia	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	HP:0040283 - Occasional		28
HP:0000726	HP:0000726	Dementia	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.		55
HP:0000726	HP:0000726	Dementia	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		55
HP:0000726	HP:0000726	Dementia	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0000726	HP:0000726	Dementia	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000726	HP:0000726	Dementia	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.		50
HP:0000726	HP:0000726	Dementia	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional		103
HP:0000726	HP:0000726	Dementia	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0000726	HP:0000726	Dementia	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0000726	HP:0000726	Dementia	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		464
HP:0000726	HP:0000726	Dementia	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000726	HP:0000726	Dementia	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.		5
HP:0000726	HP:0000726	Dementia	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional		5
HP:0000726	HP:0000726	Dementia	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.		1
HP:0000726	HP:0000726	Dementia	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000726	HP:0000726	Dementia	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		133
HP:0000726	HP:0000726	Dementia	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040280 - Obligate		2
HP:0000726	HP:0000726	Dementia	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		138
HP:0000726	HP:0000726	Dementia	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0000726	HP:0000726	Dementia	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0000726	HP:0000726	Dementia	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	HP:0003584 - Late onset	69
HP:0000726	HP:0000726	Dementia	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0000726	HP:0000726	Dementia	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.		69
HP:0000726	HP:0000726	Dementia	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent		69
HP:0000726	HP:0000726	Dementia	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0000726	HP:0000726	Dementia	0	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features	.		69
HP:0000726	HP:0000726	Dementia	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0000726	HP:0000726	Dementia	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0000726	HP:0000726	Dementia	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0000726	HP:0000726	Dementia	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0000726	HP:0000726	Dementia	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0000726	HP:0000726	Dementia	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0000726	HP:0000726	Dementia	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0000726	HP:0000726	Dementia	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		241
HP:0000726	HP:0000726	Dementia	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0000726	HP:0000726	Dementia	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0000726	HP:0000726	Dementia	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0000726	HP:0000726	Dementia	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	HP:0040283 - Occasional		34
HP:0000726	HP:0000726	Dementia	0	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.		10
HP:0000726	HP:0000726	Dementia	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional		10
HP:0000726	HP:0000726	Dementia	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0000726	HP:0000726	Dementia	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0000726	HP:0000726	Dementia	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		125
HP:0000726	HP:0000726	Dementia	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		77
HP:0000726	HP:0000726	Dementia	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0000726	HP:0000726	Dementia	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0000726	HP:0000726	Dementia	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0000726	HP:0000726	Dementia	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0000726	HP:0000726	Dementia	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.		28
HP:0000726	HP:0000726	Dementia	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0000726	HP:0000726	Dementia	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.		65
HP:0000726	HP:0000726	Dementia	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		65
HP:0000726	HP:0000726	Dementia	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0000726	HP:0000726	Dementia	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.		65
HP:0000726	HP:0000726	Dementia	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional		65
HP:0000726	HP:0000726	Dementia	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0000726	HP:0000726	Dementia	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.		35
HP:0000726	HP:0000726	Dementia	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.		2
HP:0000726	HP:0000726	Dementia	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0000726	HP:0000726	Dementia	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0000726	HP:0000726	Dementia	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0000726	HP:0000726	Dementia	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040281 - Very frequent		28
HP:0000726	HP:0000726	Dementia	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.		28
HP:0000726	HP:0000726	Dementia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0000726	HP:0000726	Dementia	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0000726	HP:0000726	Dementia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000726	HP:0000726	Dementia	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0000726	HP:0000726	Dementia	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		9
HP:0000726	HP:0000726	Dementia	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0000726	HP:0000726	Dementia	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000726	HP:0000726	Dementia	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0000726	HP:0000726	Dementia	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000726	HP:0000726	Dementia	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.		7
HP:0000726	HP:0000726	Dementia	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0000726	HP:0000726	Dementia	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0000726	HP:0000726	Dementia	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000726	HP:0000726	Dementia	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0000726	HP:0000726	Dementia	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0000726	HP:0000726	Dementia	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0000726	HP:0000726	Dementia	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0000726	HP:0000726	Dementia	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0000726	HP:0000726	Dementia	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0000726	HP:0000726	Dementia	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0000726	HP:0000726	Dementia	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0000726	HP:0000726	Dementia	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0000726	HP:0000726	Dementia	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		31
HP:0000726	HP:0000726	Dementia	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0000726	HP:0000726	Dementia	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0000726	HP:0000726	Dementia	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0000726	HP:0000726	Dementia	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0000726	HP:0000726	Dementia	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000726	HP:0000726	Dementia	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.		2
HP:0000726	HP:0000726	Dementia	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0000726	HP:0000726	Dementia	0	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0000726	HP:0000726	Dementia	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0000726	HP:0000726	Dementia	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	HP:0003584 - Late onset	113
HP:0000726	HP:0000726	Dementia	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000726	HP:0000726	Dementia	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		138
HP:0000726	HP:0000726	Dementia	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0000726	HP:0000726	Dementia	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0000726	HP:0000726	Dementia	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0000726	HP:0000726	Dementia	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		21
HP:0000726	HP:0000726	Dementia	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0000726	HP:0000726	Dementia	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0000726	HP:0000726	Dementia	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent		63
HP:0000726	HP:0000726	Dementia	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0000726	HP:0000726	Dementia	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000726	HP:0000726	Dementia	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0000726	HP:0000726	Dementia	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0000726	HP:0000726	Dementia	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0000726	HP:0000726	Dementia	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	HP:0040283 - Occasional		130
HP:0000726	HP:0000726	Dementia	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	.		8
HP:0000726	HP:0000726	Dementia	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0000726	HP:0000726	Dementia	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		37
HP:0000726	HP:0000726	Dementia	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent		51
HP:0000726	HP:0000726	Dementia	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0000726	HP:0000726	Dementia	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0000726	HP:0000726	Dementia	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040281 - Very frequent		389
HP:0000726	HP:0000726	Dementia	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.		4
HP:0000726	HP:0000726	Dementia	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0000726	HP:0002145	Frontotemporal dementia	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0000726	HP:0002145	Frontotemporal dementia	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0000726	HP:0002145	Frontotemporal dementia	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0000726	HP:0002145	Frontotemporal dementia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0000726	HP:0002145	Frontotemporal dementia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		56
HP:0000726	HP:0002145	Frontotemporal dementia	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0000726	HP:0002145	Frontotemporal dementia	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0000726	HP:0000727	Frontal lobe dementia	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0000726	HP:0002145	Frontotemporal dementia	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0000726	HP:0002145	Frontotemporal dementia	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		11
HP:0000726	HP:0002145	Frontotemporal dementia	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0000726	HP:0002145	Frontotemporal dementia	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0000726	HP:0002145	Frontotemporal dementia	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0000726	HP:0000727	Frontal lobe dementia	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0000726	HP:0002145	Frontotemporal dementia	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0000726	HP:0002145	Frontotemporal dementia	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.		86
HP:0000726	HP:0000727	Frontal lobe dementia	1	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0000726	HP:0007123	Subcortical dementia	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0000726	HP:0000727	Frontal lobe dementia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0000726	HP:0007123	Subcortical dementia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0000726	HP:0002145	Frontotemporal dementia	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		105
HP:0000726	HP:0002145	Frontotemporal dementia	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0000726	HP:0002145	Frontotemporal dementia	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0000726	HP:0002145	Frontotemporal dementia	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0000726	HP:0002145	Frontotemporal dementia	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		31
HP:0000726	HP:0002145	Frontotemporal dementia	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.		5
HP:0000726	HP:0002145	Frontotemporal dementia	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		5
HP:0000726	HP:0000727	Frontal lobe dementia	1	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		39
HP:0000726	HP:0000727	Frontal lobe dementia	1	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		221
HP:0000726	HP:0002145	Frontotemporal dementia	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0000726	HP:0002145	Frontotemporal dementia	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0000726	HP:0000727	Frontal lobe dementia	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0000726	HP:0002145	Frontotemporal dementia	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0000726	HP:0002145	Frontotemporal dementia	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0000726	HP:0002439	Frontolimbic dementia	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0000726	HP:0007123	Subcortical dementia	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0000726	HP:0000727	Frontal lobe dementia	1	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		23
HP:0000726	HP:0000727	Frontal lobe dementia	1	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		55
HP:0000726	HP:0002145	Frontotemporal dementia	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0000726	HP:0002145	Frontotemporal dementia	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0000726	HP:0000727	Frontal lobe dementia	1	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0000726	HP:0002145	Frontotemporal dementia	1	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent		2
HP:0000726	HP:0000727	Frontal lobe dementia	1	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		138
HP:0000726	HP:0002145	Frontotemporal dementia	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0000726	HP:0002145	Frontotemporal dementia	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0000726	HP:0002145	Frontotemporal dementia	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0000726	HP:0000727	Frontal lobe dementia	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0000726	HP:0002145	Frontotemporal dementia	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0000726	HP:0002145	Frontotemporal dementia	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0000726	HP:0002145	Frontotemporal dementia	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0000726	HP:0000727	Frontal lobe dementia	1	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		65
HP:0000726	HP:0002145	Frontotemporal dementia	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0000726	HP:0002145	Frontotemporal dementia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0000726	HP:0002145	Frontotemporal dementia	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0000726	HP:0002145	Frontotemporal dementia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		62
HP:0000726	HP:0000727	Frontal lobe dementia	1	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		9
HP:0000726	HP:0002145	Frontotemporal dementia	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0000726	HP:0002145	Frontotemporal dementia	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		65
HP:0000726	HP:0002145	Frontotemporal dementia	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0000726	HP:0002145	Frontotemporal dementia	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		20
HP:0000726	HP:0000727	Frontal lobe dementia	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0000726	HP:0002145	Frontotemporal dementia	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0000726	HP:0002145	Frontotemporal dementia	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0000726	HP:0002145	Frontotemporal dementia	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0000726	HP:0002145	Frontotemporal dementia	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0000726	HP:0002145	Frontotemporal dementia	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0000726	HP:0002145	Frontotemporal dementia	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0000726	HP:0000727	Frontal lobe dementia	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0000726	HP:0002145	Frontotemporal dementia	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0000726	HP:0002145	Frontotemporal dementia	1	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	HP:0040283 - Occasional		6
HP:0000726	HP:0000727	Frontal lobe dementia	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0000726	HP:0000727	Frontal lobe dementia	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0000726	HP:0002145	Frontotemporal dementia	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.		20
HP:0000726	HP:0000727	Frontal lobe dementia	1	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		21
HP:0000726	HP:0002145	Frontotemporal dementia	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0000726	HP:0002145	Frontotemporal dementia	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		63
HP:0000726	HP:0002145	Frontotemporal dementia	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0000726	HP:0002145	Frontotemporal dementia	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		63
HP:0000726	HP:0002145	Frontotemporal dementia	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0000726	HP:0000727	Frontal lobe dementia	1	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		8
HP:0000726	HP:0002145	Frontotemporal dementia	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0000726	HP:0030219	Semantic dementia	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0000726	HP:0030219	Semantic dementia	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0000726	HP:0030219	Semantic dementia	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0000726	HP:0030219	Semantic dementia	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0000726	HP:0030219	Semantic dementia	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0000726	HP:0030219	Semantic dementia	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0000726	HP:0030219	Semantic dementia	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31

Genes (192) :AARS1 AARS2 ABCA7 ABCD1 ADA2 ADH1C ALDH18A1 APOE APP APTX ARSA ASAH1 ATN1 ATP13A2 ATP6 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7B ATRX ATXN10 ATXN2 ATXN3 ATXN8OS AUH BRAF C19ORF12 C9ORF72 CCNF CDH23 CERS1 CFAP43 CHCHD10 CHMP2B CISD2 CLN3 CLN6 CLN8 COL4A1 COX1 COX2 COX3 CP CSF1R CST3 CSTB CTSF CUBN CYLD CYP27A1 CYTB DCTN1 DGUOK DLAT DNAJC13 DNAJC5 DNAJC6 DNM1L DNMT1 EIF4G1 EPM2A ERCC4 ERCC8 FAR1 FBXO7 FMR1 FTL FUS GBA1 GBA2 GBE1 GCDH GIGYF2 GLUD2 GM2A GRN HFE HLA-DQB1 HNRNPA1 HNRNPA2B1 HTRA1 HTRA2 HTT IRF6 ITM2B JPH3 KCTD7 LIG3 LMNB1 LRRK2 LYST MAPT MATR3 MBTPS2 MMACHC MPO ND1 ND4 ND5 ND6 NDP NHLRC1 NOS3 NOTCH2NLC NOTCH3 NPC1 NPC2 NR3C1 NR4A2 OPA1 PANK2 PARK7 PDGFB PDGFRB PINK1 PLA2G6 PLAU PNPLA6 PODXL POLG PPP2R2B PRDM8 PRDX1 PRICKLE1 PRKAR1B PRKN PRNP PSAP PSEN1 PSEN2 RAB39B RNF216 ROGDI RRM2B SCARB2 SDHA SDHAF1 SDHB SDHD SERPINI1 SLC13A5 SNCA SNCAIP SNCB SORL1 SPAST SPG11 SPG21 SQSTM1 STARD7 SYNJ1 TARDBP TBK1 TBP TIA1 TIMM8A TMEM106B TOMM40 TP53 TREM2 TREX1 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPM7 TTR TUBA4A TUBB4A TWNK TYMP TYROBP UBQLN2 UCHL1 USP48 USP8 VCP VPS13A VPS13C VPS35 WDR45 WFS1 XPR1 ZFYVE26

Diseases (188) :OMIM:619661 OMIM:615889 ORPHA:1020 OMIM:300100 ORPHA:820 OMIM:168600 ORPHA:447753 ORPHA:447757 OMIM:104310 OMIM:607822 OMIM:606889 ORPHA:100006 ORPHA:324708 ORPHA:324713 ORPHA:324703 OMIM:104300 OMIM:605714 OMIM:208920 ORPHA:309271 OMIM:159950 ORPHA:101 OMIM:125370 ORPHA:513436 OMIM:606693 ORPHA:306674 OMIM:617225 ORPHA:644 OMIM:551500 ORPHA:357074 OMIM:277900 ORPHA:96253 OMIM:603516 OMIM:183090 ORPHA:98756 OMIM:109150 OMIM:250950 OMIM:614298 OMIM:105550 ORPHA:275864 ORPHA:275872 ORPHA:100070 ORPHA:100069 OMIM:619141 OMIM:616230 OMIM:236690 OMIM:615911 OMIM:600795 ORPHA:3463 OMIM:204200 ORPHA:228346 OMIM:204300 ORPHA:1947 OMIM:618564 ORPHA:550 OMIM:540000 OMIM:604290 OMIM:221820 OMIM:105150 OMIM:254800 ORPHA:308 OMIM:615362 OMIM:261100 OMIM:619132 OMIM:213700 ORPHA:178509 OMIM:168605 ORPHA:329314 ORPHA:79244 ORPHA:411602 OMIM:162350 ORPHA:2828 ORPHA:98673 OMIM:604121 OMIM:614116 ORPHA:501 OMIM:254780 OMIM:278760 OMIM:216400 ORPHA:171695 OMIM:300623 ORPHA:93256 OMIM:606159 ORPHA:157846 OMIM:127750 ORPHA:77261 OMIM:231000 ORPHA:320391 OMIM:614409 ORPHA:206583 ORPHA:25 OMIM:272750 OMIM:607485 OMIM:123400 ORPHA:52430 OMIM:615422 OMIM:600142 OMIM:616779 ORPHA:199354 OMIM:143100 ORPHA:248111 OMIM:119500 OMIM:176500 OMIM:117300 OMIM:606438 ORPHA:98934 ORPHA:263516 ORPHA:298 ORPHA:99027 OMIM:607060 ORPHA:167 OMIM:600274 OMIM:172700 ORPHA:240094 OMIM:260540 OMIM:601104 OMIM:606070 ORPHA:600 ORPHA:2273 ORPHA:79282 OMIM:277400 OMIM:310600 ORPHA:2289 OMIM:603472 OMIM:125310 ORPHA:136 OMIM:257220 OMIM:607625 OMIM:607236 OMIM:234200 OMIM:615483 OMIM:615007 OMIM:605909 ORPHA:199351 OMIM:612953 ORPHA:1173 OMIM:203700 OMIM:607459 OMIM:604326 ORPHA:98762 OMIM:616640 ORPHA:412066 OMIM:600072 OMIM:137440 ORPHA:356 OMIM:603218 ORPHA:157941 ORPHA:282166 OMIM:606688 OMIM:613697 OMIM:311510 OMIM:212840 ORPHA:1946 OMIM:226750 ORPHA:3208 OMIM:604218 OMIM:168601 OMIM:605543 OMIM:182601 ORPHA:2822 ORPHA:101001 OMIM:248900 OMIM:616437 OMIM:607876 OMIM:612069 OMIM:616439 OMIM:607136 OMIM:619133 ORPHA:52368 ORPHA:2770 OMIM:618193 OMIM:192315 ORPHA:2596 OMIM:105500 OMIM:105210 OMIM:616208 ORPHA:98805 OMIM:609286 OMIM:221770 OMIM:300857 ORPHA:329478 OMIM:167320 OMIM:200150 OMIM:616840 ORPHA:329284 OMIM:300894 ORPHA:411590 OMIM:616413 ORPHA:100996

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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