Human Phenotype Ontology 
Grandparent Node:
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Cognitive impairment (HP:0100543)help
Parent Node:
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Mental deterioration (HP:0001268)help
..Starting node
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Dementia (HP:0000726)help
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:
........expandFrontal lobe dementia (HP:0000727) help
........expandFrontotemporal dementia (HP:0002145) help
................... HP:0030219 Semantic dementia
........expandFrontolimbic dementia (HP:0002439) help
........expandSubcortical dementia (HP:0007123) help

 Sister Nodes: 
..expandMotor deterioration (HP:0002333) help
..expandProgressive neurologic deterioration (HP:0002344) help
..expandPsychomotor deterioration (HP:0002361) help
..expandSocial and occupational deterioration (HP:0007086) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000726HP:0000726Dementia0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000726HP:0000726Dementia0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0000726HP:0000726Dementia0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0000726HP:0000726Dementia0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0000726HP:0000726Dementia0ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040282 - Frequent22
HP:0000726HP:0000726Dementia0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0000726HP:0000726Dementia0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0000726HP:0000726Dementia0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0000726HP:0000726Dementia0APOE CL E G H348613OMIM:104310Alzheimer disease 2.39
HP:0000726HP:0000726Dementia0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0000726HP:0000726Dementia0APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0000726HP:0000726Dementia0APP CL E G H351620ORPHA:100006ABeta amyloidosis, Dutch typeHP:0040281 - Very frequent74
HP:0000726HP:0000726Dementia0APP CL E G H351620ORPHA:324708ABeta amyloidosis, Iowa typeHP:0040281 - Very frequent74
HP:0000726HP:0000726Dementia0APP CL E G H351620ORPHA:324713ABeta amyloidosis, Italian typeHP:0040282 - Frequent74
HP:0000726HP:0000726Dementia0APP CL E G H351620ORPHA:324703ABetaL34V amyloidosisHP:0040281 - Very frequent74
HP:0000726HP:0000726Dementia0APP CL E G H351620OMIM:104300Alzheimer disease.74
HP:0000726HP:0000726Dementia0APP CL E G H351620OMIM:605714Cerebral amyloid angiopathy, APP-related.74
HP:0000726HP:0000726Dementia0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0000726HP:0000726Dementia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0000726HP:0000726Dementia0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0000726HP:0000726Dementia0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0000726HP:0000726Dementia0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0000726HP:0000726Dementia0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0000726HP:0000726Dementia0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040284 - Very rare100
HP:0000726HP:0000726Dementia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0000726HP:0000726Dementia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0000726HP:0000726Dementia0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0000726HP:0000726Dementia0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0000726HP:0000726Dementia0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0000726HP:0000726Dementia0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000726HP:0000726Dementia0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000726HP:0000726Dementia0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000726HP:0000726Dementia0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0000726HP:0000726Dementia0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0000726HP:0000726Dementia0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0000726HP:0000726Dementia0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0000726HP:0000726Dementia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0000726HP:0000726Dementia0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0000726HP:0000726Dementia0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0000726HP:0000726Dementia0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0000726HP:0000726Dementia0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0000726HP:0000726Dementia0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0000726HP:0000726Dementia0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000726HP:0000726Dementia0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0000726HP:0000726Dementia0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementia56
HP:0000726HP:0000726Dementia0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0000726HP:0000726Dementia0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasia56
HP:0000726HP:0000726Dementia0C9ORF72 CL E G H20322828337ORPHA:100069Semantic dementiaHP:0040282 - Frequent56
HP:0000726HP:0000726Dementia0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0000726HP:0000726Dementia0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0000726HP:0000726Dementia0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 8.1
HP:0000726HP:0000726Dementia0CFAP43 CL E G H8021726684OMIM:236690Hydrocephalus, normal pressure, 1.6
HP:0000726HP:0000726Dementia0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 211
HP:0000726HP:0000726Dementia0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0000726HP:0000726Dementia0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementia42
HP:0000726HP:0000726Dementia0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0000726HP:0000726Dementia0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasia42
HP:0000726HP:0000726Dementia0CHMP2B CL E G H2597824537ORPHA:100069Semantic dementiaHP:0040282 - Frequent42
HP:0000726HP:0000726Dementia0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0000726HP:0000726Dementia0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0000726HP:0000726Dementia0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000726HP:0000726Dementia0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0000726HP:0000726Dementia0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0000726HP:0000726Dementia0COL4A1 CL E G H12822202OMIM:618564MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL193
HP:0000726HP:0000726Dementia0COX1 CL E G H45127419ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0COX2 CL E G H45137421ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0COX3 CL E G H45147422ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0000726HP:0000726Dementia0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids149
HP:0000726HP:0000726Dementia0CST3 CL E G H14712475OMIM:105150Amyloidosis VI.3
HP:0000726HP:0000726Dementia0CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0000726HP:0000726Dementia0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040283 - Occasional51
HP:0000726HP:0000726Dementia0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0000726HP:0000726Dementia0CUBN CL E G H80292548OMIM:261100Megaloblastic anemia 1.273
HP:0000726HP:0000726Dementia0CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0000726HP:0000726Dementia0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0000726HP:0000726Dementia0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040283 - Occasional86
HP:0000726HP:0000726Dementia0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0000726HP:0000726Dementia0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040283 - Occasional57
HP:0000726HP:0000726Dementia0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040283 - Occasional82
HP:0000726HP:0000726Dementia0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040284 - Very rare2
HP:0000726HP:0000726Dementia0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0000726HP:0000726Dementia0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0000726HP:0000726Dementia0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0000726HP:0000726Dementia0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0000726HP:0000726Dementia0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE.HP:0003581 - Adult onset145
HP:0000726HP:0000726Dementia0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040284 - Very rare2
HP:0000726HP:0000726Dementia0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0000726HP:0000726Dementia0EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora.83
HP:0000726HP:0000726Dementia0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group FHP:0040283 - Occasional158
HP:0000726HP:0000726Dementia0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000726HP:0000726Dementia0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0000726HP:0000726Dementia0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040283 - Occasional36
HP:0000726HP:0000726Dementia0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0000726HP:0000726Dementia0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040281 - Very frequent30
HP:0000726HP:0000726Dementia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0000726HP:0000726Dementia0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0000726HP:0000726Dementia0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0000726HP:0000726Dementia0GBA1 CL E G H26294177OMIM:127750Dementia, lewy body.
HP:0000726HP:0000726Dementia0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040282 - Frequent
HP:0000726HP:0000726Dementia0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0000726HP:0000726Dementia0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040284 - Very rare
HP:0000726HP:0000726Dementia0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0000726HP:0000726Dementia0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0000726HP:0000726Dementia0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessiveHP:0040283 - Occasional30
HP:0000726HP:0000726Dementia0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body diseaseHP:0040283 - Occasional86
HP:0000726HP:0000726Dementia0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0000726HP:0000726Dementia0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040284 - Very rare8
HP:0000726HP:0000726Dementia0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0000726HP:0000726Dementia0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0000726HP:0000726Dementia0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementia126
HP:0000726HP:0000726Dementia0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions126
HP:0000726HP:0000726Dementia0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasia126
HP:0000726HP:0000726Dementia0GRN CL E G H28964601ORPHA:100069Semantic dementiaHP:0040282 - Frequent126
HP:0000726HP:0000726Dementia0HFE CL E G H30774886OMIM:104300Alzheimer disease.38
HP:0000726HP:0000726Dementia0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0000726HP:0000726Dementia0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0000726HP:0000726Dementia0HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 25
HP:0000726HP:0000726Dementia0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0000726HP:0000726Dementia0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0000726HP:0000726Dementia0HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2.34
HP:0000726HP:0000726Dementia0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000726HP:0000726Dementia0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0000726HP:0000726Dementia0HTT CL E G H30644851OMIM:143100Huntington disease.12
HP:0000726HP:0000726Dementia0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0000726HP:0000726Dementia0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0000726HP:0000726Dementia0ITM2B CL E G H94456174OMIM:176500Cerebral amyloid angiopathy, itm2b-related, 1.3
HP:0000726HP:0000726Dementia0ITM2B CL E G H94456174OMIM:117300Dementia, familial danish.3
HP:0000726HP:0000726Dementia0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0000726HP:0000726Dementia0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0000726HP:0000726Dementia0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0000726HP:0000726Dementia0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040284 - Very rare1
HP:0000726HP:0000726Dementia0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040284 - Very rare44
HP:0000726HP:0000726Dementia0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040284 - Very rare221
HP:0000726HP:0000726Dementia0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0000726HP:0000726Dementia0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0000726HP:0000726Dementia0LYST CL E G H11301968ORPHA:167Ch├ędiak-Higashi syndromeHP:0040283 - Occasional239
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementia140
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia140
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893OMIM:172700Pick disease of brain140
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasia140
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040283 - Occasional140
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893ORPHA:100069Semantic dementiaHP:0040282 - Frequent140
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical.140
HP:0000726HP:0000726Dementia0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0000726HP:0000726Dementia0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21HP:0040283 - Occasional80
HP:0000726HP:0000726Dementia0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040284 - Very rare80
HP:0000726HP:0000726Dementia0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0000726HP:0000726Dementia0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040284 - Very rare101
HP:0000726HP:0000726Dementia0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0000726HP:0000726Dementia0MPO CL E G H43537218OMIM:104300Alzheimer disease.11
HP:0000726HP:0000726Dementia0ND1 CL E G H45357455ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0ND4 CL E G H45387459ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0ND5 CL E G H45407461ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0ND6 CL E G H45417462ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0000726HP:0000726Dementia0NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0000726HP:0000726Dementia0NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora.77
HP:0000726HP:0000726Dementia0NOS3 CL E G H48467876OMIM:104300Alzheimer disease.8
HP:0000726HP:0000726Dementia0NOTCH2NLC CL E G H10099671753924ORPHA:2289Neuronal intranuclear inclusion diseaseHP:0040282 - Frequent
HP:0000726HP:0000726Dementia0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000726HP:0000726Dementia0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0000726HP:0000726Dementia0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0000726HP:0000726Dementia0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1.258
HP:0000726HP:0000726Dementia0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0000726HP:0000726Dementia0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0000726HP:0000726Dementia0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0000726HP:0000726Dementia0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0000726HP:0000726Dementia0PANK2 CL E G H8002515894OMIM:607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration.55
HP:0000726HP:0000726Dementia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0000726HP:0000726Dementia0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0000726HP:0000726Dementia0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0000726HP:0000726Dementia0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 4HP:0040283 - Occasional28
HP:0000726HP:0000726Dementia0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0000726HP:0000726Dementia0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0000726HP:0000726Dementia0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0000726HP:0000726Dementia0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0000726HP:0000726Dementia0PLAU CL E G H53289052OMIM:104300Alzheimer disease.50
HP:0000726HP:0000726Dementia0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional103
HP:0000726HP:0000726Dementia0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0000726HP:0000726Dementia0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0000726HP:0000726Dementia0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040284 - Very rare464
HP:0000726HP:0000726Dementia0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0000726HP:0000726Dementia0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0000726HP:0000726Dementia0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0000726HP:0000726Dementia0PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 10.1
HP:0000726HP:0000726Dementia0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0000726HP:0000726Dementia0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040283 - Occasional133
HP:0000726HP:0000726Dementia0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040280 - Obligate2
HP:0000726HP:0000726Dementia0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0000726HP:0000726Dementia0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0000726HP:0000726Dementia0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0000726HP:0000726Dementia0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.HP:0003584 - Late onset69
HP:0000726HP:0000726Dementia0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040282 - Frequent69
HP:0000726HP:0000726Dementia0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0000726HP:0000726Dementia0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040282 - Frequent69
HP:0000726HP:0000726Dementia0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0000726HP:0000726Dementia0PRNP CL E G H56219449OMIM:606688Spongiform encephalopathy with neuropsychiatric features.69
HP:0000726HP:0000726Dementia0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0000726HP:0000726Dementia0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0000726HP:0000726Dementia0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementia241
HP:0000726HP:0000726Dementia0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent241
HP:0000726HP:0000726Dementia0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia241
HP:0000726HP:0000726Dementia0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain241
HP:0000726HP:0000726Dementia0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasia241
HP:0000726HP:0000726Dementia0PSEN1 CL E G H56639508ORPHA:100069Semantic dementiaHP:0040282 - Frequent241
HP:0000726HP:0000726Dementia0PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459
HP:0000726HP:0000726Dementia0PSEN2 CL E G H56649509OMIM:613697Cardiomyopathy, dilated, 1V59
HP:0000726HP:0000726Dementia0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent59
HP:0000726HP:0000726Dementia0RAB39B CL E G H11644216499OMIM:311510Waisman syndromeHP:0040283 - Occasional34
HP:0000726HP:0000726Dementia0RNF216 CL E G H5447621698OMIM:212840Cerebellar ataxia and hypogonadotropic hypogonadism.10
HP:0000726HP:0000726Dementia0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional10
HP:0000726HP:0000726Dementia0ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent57
HP:0000726HP:0000726Dementia0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0000726HP:0000726Dementia0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040284 - Very rare125
HP:0000726HP:0000726Dementia0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040283 - Occasional77
HP:0000726HP:0000726Dementia0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare304
HP:0000726HP:0000726Dementia0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare16
HP:0000726HP:0000726Dementia0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare237
HP:0000726HP:0000726Dementia0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare129
HP:0000726HP:0000726Dementia0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0000726HP:0000726Dementia0SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent73
HP:0000726HP:0000726Dementia0SNCA CL E G H662211138OMIM:127750Dementia, lewy body.65
HP:0000726HP:0000726Dementia0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040284 - Very rare65
HP:0000726HP:0000726Dementia0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0000726HP:0000726Dementia0SNCA CL E G H662211138OMIM:605543Parkinson disease 4.65
HP:0000726HP:0000726Dementia0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040283 - Occasional65
HP:0000726HP:0000726Dementia0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0000726HP:0000726Dementia0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0000726HP:0000726Dementia0SNCB CL E G H662011140OMIM:127750Dementia, lewy body.2
HP:0000726HP:0000726Dementia0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0000726HP:0000726Dementia0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0000726HP:0000726Dementia0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0000726HP:0000726Dementia0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040281 - Very frequent28
HP:0000726HP:0000726Dementia0SPG21 CL E G H5132420373OMIM:248900Mast syndrome.28
HP:0000726HP:0000726Dementia0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementia62
HP:0000726HP:0000726Dementia0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 362
HP:0000726HP:0000726Dementia0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron disease62
HP:0000726HP:0000726Dementia0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0000726HP:0000726Dementia0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0000726HP:0000726Dementia0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia65
HP:0000726HP:0000726Dementia0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron disease65
HP:0000726HP:0000726Dementia0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 420
HP:0000726HP:0000726Dementia0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron disease20
HP:0000726HP:0000726Dementia0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0000726HP:0000726Dementia0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0000726HP:0000726Dementia0TIA1 CL E G H707211802OMIM:619133AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS265
HP:0000726HP:0000726Dementia0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0000726HP:0000726Dementia0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementia
HP:0000726HP:0000726Dementia0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasia
HP:0000726HP:0000726Dementia0TMEM106B CL E G H5466422407ORPHA:100069Semantic dementiaHP:0040282 - Frequent
HP:0000726HP:0000726Dementia0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0000726HP:0000726Dementia0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementia31
HP:0000726HP:0000726Dementia0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent31
HP:0000726HP:0000726Dementia0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola disease31
HP:0000726HP:0000726Dementia0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0000726HP:0000726Dementia0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasia31
HP:0000726HP:0000726Dementia0TREM2 CL E G H5420917761ORPHA:100069Semantic dementiaHP:0040282 - Frequent31
HP:0000726HP:0000726Dementia0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0000726HP:0000726Dementia0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040284 - Very rare
HP:0000726HP:0000726Dementia0TRNF CL E G H45587481ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRNH CL E G H45647487ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRNQ CL E G H45727495ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0000726HP:0000726Dementia0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRNW CL E G H45787501ORPHA:550MELASHP:0040281 - Very frequent
HP:0000726HP:0000726Dementia0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000726HP:0000726Dementia0TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.2
HP:0000726HP:0000726Dementia0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0000726HP:0000726Dementia0TUBA4A CL E G H727712407OMIM:616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia6
HP:0000726HP:0000726Dementia0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040283 - Occasional66
HP:0000726HP:0000726Dementia0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.HP:0003584 - Late onset113
HP:0000726HP:0000726Dementia0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0000726HP:0000726Dementia0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040284 - Very rare138
HP:0000726HP:0000726Dementia0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola disease22
HP:0000726HP:0000726Dementia0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy22
HP:0000726HP:0000726Dementia0UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia20
HP:0000726HP:0000726Dementia0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0000726HP:0000726Dementia0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0000726HP:0000726Dementia0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0000726HP:0000726Dementia0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0000726HP:0000726Dementia0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementia63
HP:0000726HP:0000726Dementia0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron disease63
HP:0000726HP:0000726Dementia0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0000726HP:0000726Dementia0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia63
HP:0000726HP:0000726Dementia0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasia63
HP:0000726HP:0000726Dementia0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSISHP:0040283 - Occasional130
HP:0000726HP:0000726Dementia0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset.8
HP:0000726HP:0000726Dementia0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0000726HP:0000726Dementia0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040284 - Very rare37
HP:0000726HP:0000726Dementia0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0000726HP:0000726Dementia0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0000726HP:0000726Dementia0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0000726HP:0000726Dementia0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040281 - Very frequent389
HP:0000726HP:0000726Dementia0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 6.4
HP:0000726HP:0000726Dementia0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040283 - Occasional189
HP:0000726HP:0002145Frontotemporal dementia1ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0000726HP:0002145Frontotemporal dementia1APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer disease74
HP:0000726HP:0002145Frontotemporal dementia1C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0000726HP:0002145Frontotemporal dementia1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0000726HP:0002145Frontotemporal dementia1C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent56
HP:0000726HP:0002145Frontotemporal dementia1C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent56
HP:0000726HP:0002145Frontotemporal dementia1CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0000726HP:0000727Frontal lobe dementia1CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0000726HP:0002145Frontotemporal dementia1CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0000726HP:0002145Frontotemporal dementia1CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent11
HP:0000726HP:0002145Frontotemporal dementia1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0000726HP:0002145Frontotemporal dementia1CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0000726HP:0002145Frontotemporal dementia1CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent42
HP:0000726HP:0000727Frontal lobe dementia1CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0000726HP:0002145Frontotemporal dementia1CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0000726HP:0002145Frontotemporal dementia1DCTN1 CL E G H16392711OMIM:168605Perry syndrome.86
HP:0000726HP:0000727Frontal lobe dementia1DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare6
HP:0000726HP:0007123Subcortical dementia1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0000726HP:0000727Frontal lobe dementia1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040284 - Very rare33
HP:0000726HP:0007123Subcortical dementia1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040284 - Very rare33
HP:0000726HP:0002145Frontotemporal dementia1FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent105
HP:0000726HP:0002145Frontotemporal dementia1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0000726HP:0002145Frontotemporal dementia1GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0000726HP:0002145Frontotemporal dementia1GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent126
HP:0000726HP:0002145Frontotemporal dementia1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040282 - Frequent31
HP:0000726HP:0002145Frontotemporal dementia1HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2.5
HP:0000726HP:0002145Frontotemporal dementia1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040282 - Frequent5
HP:0000726HP:0000727Frontal lobe dementia1HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare39
HP:0000726HP:0000727Frontal lobe dementia1LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare221
HP:0000726HP:0002145Frontotemporal dementia1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0000726HP:0002145Frontotemporal dementia1MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0000726HP:0000727Frontal lobe dementia1MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0000726HP:0002145Frontotemporal dementia1MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0000726HP:0002145Frontotemporal dementia1MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent140
HP:0000726HP:0002439Frontolimbic dementia1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0000726HP:0007123Subcortical dementia1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0000726HP:0000727Frontal lobe dementia1PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare23
HP:0000726HP:0000727Frontal lobe dementia1PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare55
HP:0000726HP:0002145Frontotemporal dementia1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0000726HP:0002145Frontotemporal dementia1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0000726HP:0000727Frontal lobe dementia1PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare6
HP:0000726HP:0002145Frontotemporal dementia1PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040281 - Very frequent2
HP:0000726HP:0000727Frontal lobe dementia1PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare138
HP:0000726HP:0002145Frontotemporal dementia1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0000726HP:0002145Frontotemporal dementia1PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer disease241
HP:0000726HP:0002145Frontotemporal dementia1PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0000726HP:0000727Frontal lobe dementia1PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0000726HP:0002145Frontotemporal dementia1PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0000726HP:0002145Frontotemporal dementia1PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent241
HP:0000726HP:0002145Frontotemporal dementia1PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer disease59
HP:0000726HP:0000727Frontal lobe dementia1SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare65
HP:0000726HP:0002145Frontotemporal dementia1SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0000726HP:0002145Frontotemporal dementia1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0000726HP:0002145Frontotemporal dementia1SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0000726HP:0002145Frontotemporal dementia1SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent62
HP:0000726HP:0000727Frontal lobe dementia1SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare9
HP:0000726HP:0002145Frontotemporal dementia1TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0000726HP:0002145Frontotemporal dementia1TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent65
HP:0000726HP:0002145Frontotemporal dementia1TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0000726HP:0002145Frontotemporal dementia1TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent20
HP:0000726HP:0000727Frontal lobe dementia1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0000726HP:0002145Frontotemporal dementia1TIA1 CL E G H707211802OMIM:619133AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS265
HP:0000726HP:0002145Frontotemporal dementia1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0000726HP:0002145Frontotemporal dementia1TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent
HP:0000726HP:0002145Frontotemporal dementia1TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer disease
HP:0000726HP:0002145Frontotemporal dementia1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0000726HP:0002145Frontotemporal dementia1TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer disease31
HP:0000726HP:0000727Frontal lobe dementia1TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent31
HP:0000726HP:0002145Frontotemporal dementia1TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent31
HP:0000726HP:0002145Frontotemporal dementia1TUBA4A CL E G H727712407OMIM:616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementiaHP:0040283 - Occasional6
HP:0000726HP:0000727Frontal lobe dementia1TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent22
HP:0000726HP:0000727Frontal lobe dementia1TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0000726HP:0002145Frontotemporal dementia1UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia.20
HP:0000726HP:0000727Frontal lobe dementia1UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare21
HP:0000726HP:0002145Frontotemporal dementia1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0000726HP:0002145Frontotemporal dementia1VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent63
HP:0000726HP:0002145Frontotemporal dementia1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0000726HP:0002145Frontotemporal dementia1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040282 - Frequent63
HP:0000726HP:0002145Frontotemporal dementia1VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent63
HP:0000726HP:0000727Frontal lobe dementia1VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare8
HP:0000726HP:0002145Frontotemporal dementia1ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040283 - Occasional189
HP:0000726HP:0030219Semantic dementia2ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0000726HP:0030219Semantic dementia2APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional74
HP:0000726HP:0030219Semantic dementia2PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional241
HP:0000726HP:0030219Semantic dementia2PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional59
HP:0000726HP:0030219Semantic dementia2SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0000726HP:0030219Semantic dementia2TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional
HP:0000726HP:0030219Semantic dementia2TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional31


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.