Human Phenotype Ontology 
Grandparent Node:
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Abnormality of nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of higher mental function (HP:0011446)help
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Cognitive impairment (HP:0100543)help
Term ID: 100543
Name: Cognitive impairment
Synonym: Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment; Mental impairment
Definition: Abnormality in the process of thought including the ability to process information.
Comments:
Reference: HP:0100543
Genes and Diseases:

 HPO-Disease-Gene Association for HP:0100543 and all of its descedant HPO terms  

InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameConceptIDSourceHGMD variantsClinVar variants
HP:0100543HP:0100543Cognitive impairment0AASS10157238700HyperlysinemiaC0268553OMIM1315
HP:0100543HP:0100543Cognitive impairment0ADAMTSL4545071885Distal myopathyC0751336ORPHA2084
HP:0100543HP:0100543Cognitive impairment0AKT1207201Cowden syndromeORPHA954
HP:0100543HP:0100543Cognitive impairment0ALG127908779324ALG12-CDGORPHA1368
HP:0100543HP:0100543Cognitive impairment0ALG28536579326ALG2-CDGORPHA446
HP:0100543HP:0100543Cognitive impairment0ALG97979679328ALG9-CDGORPHA493
HP:0100543HP:0100543Cognitive impairment0APTX54840208920Adult onset ataxia with oculomotor apraxiaC1859598OMIM4061
HP:0100543HP:0100543Cognitive impairment0ATR545808Baker Vinters syndromeORPHA15168
HP:0100543HP:0100543Cognitive impairment0ATRIP84126808Baker Vinters syndromeORPHA21
HP:0100543HP:0100543Cognitive impairment0ATXN16310164400Spinocerebellar ataxia 1C0752120OMIM719
HP:0100543HP:0100543Cognitive impairment0AUH5492509503-Methylglutaconic aciduriaC0342727OMIM1149
HP:0100543HP:0100543Cognitive impairment0B3GALNT2148789588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA1343
HP:0100543HP:0100543Cognitive impairment0BBIP192482615995Bardet-Biedl syndrome 18C3806174OMIM11
HP:0100543HP:0100543Cognitive impairment0BBS1079738615987Bardet-Biedl syndrome 10C1859568OMIM100118
HP:0100543HP:0100543Cognitive impairment0BBS12166379615989Bardet-Biedl syndrome 12C1859570OMIM6071
HP:0100543HP:0100543Cognitive impairment0BBS5129880615983Bardet-Biedl syndrome 5C3892039OMIM3025
HP:0100543HP:0100543Cognitive impairment0CCDC78124093614807Myopathy, centronuclear, 4C3553709OMIM225
HP:0100543HP:0100543Cognitive impairment0CENPE1062808Baker Vinters syndromeORPHA420
HP:0100543HP:0100543Cognitive impairment0CENPJ55835808Baker Vinters syndromeORPHA7161
HP:0100543HP:0100543Cognitive impairment0CEP15222995808Baker Vinters syndromeORPHA17146
HP:0100543HP:0100543Cognitive impairment0CHL1107521620Cryptogenic Organizing PneumoniaORPHA119
HP:0100543HP:0100543Cognitive impairment0CLCF1235291545Corsello Opitz syndromeORPHA46
HP:0100543HP:0100543Cognitive impairment0CLMP798272301Congenital short bowel syndromeORPHA137
HP:0100543HP:0100543Cognitive impairment0CNTN41523301620Cryptogenic Organizing PneumoniaORPHA1653
HP:0100543HP:0100543Cognitive impairment0COL3A11281286Imaizumi Kuroki syndromeORPHA617749
HP:0100543HP:0100543Cognitive impairment0COL5A11289286Imaizumi Kuroki syndromeORPHA136660
HP:0100543HP:0100543Cognitive impairment0CRBN511851620Cryptogenic Organizing PneumoniaORPHA419
HP:0100543HP:0100543Cognitive impairment0CRLF192441545Corsello Opitz syndromeORPHA3624
HP:0100543HP:0100543Cognitive impairment0CTDP19150604168Congenital Cataracts, Facial Dysmorphism, and NeuropathyC1858726OMIM117
HP:0100543HP:0100543Cognitive impairment0DDB21643910Blepharoptosis aortic anomalyORPHA1530
HP:0100543HP:0100543Cognitive impairment0DOLK2284591131DK1-CDGORPHA855
HP:0100543HP:0100543Cognitive impairment0DSTYK25778270750Spastic paraplegia 23C0796019OMIM713
HP:0100543HP:0100543Cognitive impairment0ERCC22068910Blepharoptosis aortic anomalyORPHA94106
HP:0100543HP:0100543Cognitive impairment0ERCC32071910Blepharoptosis aortic anomalyORPHA1754
HP:0100543HP:0100543Cognitive impairment0ERCC32071616390Trichothiodystrophy 2, photosensitiveC4225344OMIM1754
HP:0100543HP:0100543Cognitive impairment0ERCC42072910Blepharoptosis aortic anomalyORPHA39158
HP:0100543HP:0100543Cognitive impairment0ERCC52073910Blepharoptosis aortic anomalyORPHA5383
HP:0100543HP:0100543Cognitive impairment0ERF20772343Fitzsimmons-Guilbert syndromeC0795942ORPHA1312
HP:0100543HP:0100543Cognitive impairment0FAS3553437Vogt-Koyanagi-Harada diseaseORPHA13659
HP:0100543HP:0100543Cognitive impairment0FBN122001885Distal myopathyC0751336ORPHA20671361
HP:0100543HP:0100543Cognitive impairment0FGD12245915Bloom syndromeC0005859ORPHA4562
HP:0100543HP:0100543Cognitive impairment0FGFR3226193274Thanatophoric dysplasia type 2ORPHA69145
HP:0100543HP:0100543Cognitive impairment0FKRP79147588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA114157
HP:0100543HP:0100543Cognitive impairment0FKTN2218588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA51184
HP:0100543HP:0100543Cognitive impairment0FLNA23162301Congenital short bowel syndromeORPHA211493
HP:0100543HP:0100543Cognitive impairment0GBE12632263570Polyglucosan body disease, adultC1849722OMIM7086
HP:0100543HP:0100543Cognitive impairment0GDF58200968Brachydactyly long thumb typeC1862169ORPHA5252
HP:0100543HP:0100543Cognitive impairment0GJB22706494Keratoderma hereditarium mutilansORPHA388199
HP:0100543HP:0100543Cognitive impairment0GJC257165608804Leukodystrophy, hypomyelinating, 2C1837355OMIM5337
HP:0100543HP:0100543Cognitive impairment0GLA2717324Slti Salem syndromeORPHA911291
HP:0100543HP:0100543Cognitive impairment0GMPPB29925588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA2934
HP:0100543HP:0100543Cognitive impairment0GNAS2778103580Pseudohypoparathyroidism type 1AC0033806OMIM259101
HP:0100543HP:0100543Cognitive impairment0GNAS2778612462Pseudohypoparathyroidism type 1CC2675910OMIM259101
HP:0100543HP:0100543Cognitive impairment0GNAS2778612463PseudopseudohypoparathyroidismC0033835OMIM259101
HP:0100543HP:0100543Cognitive impairment0GRID22895616204Spinocerebellar ataxia, autosomal recessive 18C4015505OMIM1418
HP:0100543HP:0100543Cognitive impairment0INSR3643508Acroosteolysis dominant typeORPHA179229
HP:0100543HP:0100543Cognitive impairment0ITGA73679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyC2750786OMIM7127
HP:0100543HP:0100543Cognitive impairment0KATNB110300616212Lissencephaly 6, with microcephalyC4015525OMIM1110
HP:0100543HP:0100543Cognitive impairment0KCNT157582615005Epilepsy, nocturnal frontal lobe, 5C3554306OMIM31321
HP:0100543HP:0100543Cognitive impairment0KLLN100144748201Cowden syndromeORPHA81
HP:0100543HP:0100543Cognitive impairment0LAMP23920300257Danon diseaseC0878677OMIM95211
HP:0100543HP:0100543Cognitive impairment0LARGE19215588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA22136
HP:0100543HP:0100543Cognitive impairment0LZTFL154585615994Bardet-Biedl syndrome 17C3714980OMIM34
HP:0100543HP:0100543Cognitive impairment0MAOA41283057Jorgenson Lenz syndromeORPHA1622
HP:0100543HP:0100543Cognitive impairment0MARS292935611390Ataxia, spastic, 3, autosomal recessiveC1969645OMIM525
HP:0100543HP:0100543Cognitive impairment0MPDU1952679323MPDU1-CDGORPHA532
HP:0100543HP:0100543Cognitive impairment0MTFMT123263614947Combined oxidative phosphorylation deficiency 15C3554182OMIM1629
HP:0100543HP:0100543Cognitive impairment0MTO125821614702Combined oxidative phosphorylation deficiency 10C3553529OMIM1339
HP:0100543HP:0100543Cognitive impairment0NAGA4668609242Kanzaki diseaseC1836522OMIM747
HP:0100543HP:0100543Cognitive impairment0NAGS162417237310Hyperammonemia, type IIIC0268543OMIM4536
HP:0100543HP:0100543Cognitive impairment0ND54540551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0NPHP14867609583Joubert syndrome 4C1846790OMIM6985
HP:0100543HP:0100543Cognitive impairment0OCRL4952300555Dent disease 2C1845167OMIM25388
HP:0100543HP:0100543Cognitive impairment0OPA3802072585013-Methylglutaconic aciduria type 3C0574084OMIM15163
HP:0100543HP:0100543Cognitive impairment0PCNT5116808Baker Vinters syndromeORPHA82531
HP:0100543HP:0100543Cognitive impairment0PEX15189912Blepharoptosis myopia ectopia lentisC1862259ORPHA123169
HP:0100543HP:0100543Cognitive impairment0PEX105192912Blepharoptosis myopia ectopia lentisC1862259ORPHA3075
HP:0100543HP:0100543Cognitive impairment0PEX11B8799912Blepharoptosis myopia ectopia lentisC1862259ORPHA54
HP:0100543HP:0100543Cognitive impairment0PEX125193912Blepharoptosis myopia ectopia lentisC1862259ORPHA3465
HP:0100543HP:0100543Cognitive impairment0PEX135194912Blepharoptosis myopia ectopia lentisC1862259ORPHA1066
HP:0100543HP:0100543Cognitive impairment0PEX145195912Blepharoptosis myopia ectopia lentisC1862259ORPHA446
HP:0100543HP:0100543Cognitive impairment0PEX169409912Blepharoptosis myopia ectopia lentisC1862259ORPHA1259
HP:0100543HP:0100543Cognitive impairment0PEX195824912Blepharoptosis myopia ectopia lentisC1862259ORPHA362
HP:0100543HP:0100543Cognitive impairment0PEX25828912Blepharoptosis myopia ectopia lentisC1862259ORPHA1882
HP:0100543HP:0100543Cognitive impairment0PEX2655670912Blepharoptosis myopia ectopia lentisC1862259ORPHA23106
HP:0100543HP:0100543Cognitive impairment0PEX38504912Blepharoptosis myopia ectopia lentisC1862259ORPHA747
HP:0100543HP:0100543Cognitive impairment0PEX55830912Blepharoptosis myopia ectopia lentisC1862259ORPHA1499
HP:0100543HP:0100543Cognitive impairment0PEX65190912Blepharoptosis myopia ectopia lentisC1862259ORPHA10498
HP:0100543HP:0100543Cognitive impairment0PGM35238615816Immunodeficiency 23C4014371OMIM1215
HP:0100543HP:0100543Cognitive impairment0PIK3CA5290201Cowden syndromeORPHA46162
HP:0100543HP:0100543Cognitive impairment0PLK410733808Baker Vinters syndromeORPHA511
HP:0100543HP:0100543Cognitive impairment0POLG5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisC1843851OMIM277464
HP:0100543HP:0100543Cognitive impairment0POMGNT155624588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA73180
HP:0100543HP:0100543Cognitive impairment0POMK84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12C4015184OMIM618
HP:0100543HP:0100543Cognitive impairment0POMT110585588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA83213
HP:0100543HP:0100543Cognitive impairment0POMT229954588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA51221
HP:0100543HP:0100543Cognitive impairment0PORCN648402092EhrlichiosisORPHA11520
HP:0100543HP:0100543Cognitive impairment0PTEN5728201Cowden syndromeORPHA582948
HP:0100543HP:0100543Cognitive impairment0PTPN22261913437Vogt-Koyanagi-Harada diseaseORPHA123
HP:0100543HP:0100543Cognitive impairment0RBBP85932808Baker Vinters syndromeORPHA668
HP:0100543HP:0100543Cognitive impairment0RIN254453217335RIN2 syndromeORPHA343
HP:0100543HP:0100543Cognitive impairment0RNR14549551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0ROBO3642212744Horizontal gaze palsy with progressive scoliosisORPHA3390
HP:0100543HP:0100543Cognitive impairment0SCN8A6334614306Cognitive impairment with or without cerebellar ataxiaC3280415OMIM65357
HP:0100543HP:0100543Cognitive impairment0SDCCAG810806615993Bardet-Biedl syndrome 16C3889474OMIM1861
HP:0100543HP:0100543Cognitive impairment0SDHA6389252011Mitochondrial complex II deficiencyC1855008OMIM44304
HP:0100543HP:0100543Cognitive impairment0SDHAF1644096252011Mitochondrial complex II deficiencyC1855008OMIM616
HP:0100543HP:0100543Cognitive impairment0SDHB6390201Cowden syndromeORPHA254237
HP:0100543HP:0100543Cognitive impairment0SDHC6391201Cowden syndromeORPHA56147
HP:0100543HP:0100543Cognitive impairment0SDHD6392201Cowden syndromeORPHA161129
HP:0100543HP:0100543Cognitive impairment0SDHD6392252011Mitochondrial complex II deficiencyC1855008OMIM161129
HP:0100543HP:0100543Cognitive impairment0SEC23B10483201Cowden syndromeORPHA11160
HP:0100543HP:0100543Cognitive impairment0SLC18A26571352649Brain dopamine-serotonin vesicular transport diseaseORPHA52
HP:0100543HP:0100543Cognitive impairment0SMC1A8243300590Congenital muscular hypertrophy-cerebral syndromeC1802395OMIM67135
HP:0100543HP:0100543Cognitive impairment0SOST50964269500SclerosteosisC0265301OMIM1626
HP:0100543HP:0100543Cognitive impairment0TBL1XR179718270710Fitzsimmons-Guilbert syndromeC0795942OMIM1422
HP:0100543HP:0100543Cognitive impairment0TMEM240339453607454Spinocerebellar ataxia 21C1843891OMIM69
HP:0100543HP:0100543Cognitive impairment0TRAIP10293808Baker Vinters syndromeORPHA22
HP:0100543HP:0100543Cognitive impairment0TRNF4558551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0TRNH4564551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0TRNK4566551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0TRNL14567551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0TRNP4571551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0TRNQ4572551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0TRNS14574551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0TRNS24575551MERRFORPHA
HP:0100543HP:0100543Cognitive impairment0TSC17248607341Focal cortical dysplasia of TaylorC1846385OMIM3261090
HP:0100543HP:0100543Cognitive impairment0TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
HP:0100543HP:0100543Cognitive impairment0TTC1954902615157Mitochondrial complex III deficiency, nuclear type 2C3554605OMIM988
HP:0100543HP:0100543Cognitive impairment0TTC379652222470Trichohepatoenteric syndrome 1CN034858OMIM3729
HP:0100543HP:0100543Cognitive impairment0TTC8123016615985Bardet-Biedl syndrome 8C1859566OMIM1641
HP:0100543HP:0100543Cognitive impairment0TWNK56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisC1843851OMIM74113
HP:0100543HP:0100543Cognitive impairment0UBA173171145Cataract and congenital ichthyosisC1859315ORPHA435
HP:0100543HP:0100543Cognitive impairment0WDR73849422065Galloway-Mowat syndromeORPHA1114
HP:0100543HP:0100543Cognitive impairment0XPA7507910Blepharoptosis aortic anomalyORPHA4834
HP:0100543HP:0100543Cognitive impairment0XPC7508910Blepharoptosis aortic anomalyORPHA9386
HP:0100543HP:0100543Cognitive impairment0XRCC47518616541Short stature, microcephaly, and endocrine dysfunctionC4225288OMIM159
HP:0100543HP:0001268Mental deterioration1ACTB6079107Developmental malformations-deafness-dystonia syndromeORPHA2772
HP:0100543HP:0002354Memory impairment1ADA251816820Bardet-Biedl syndrome 1C2936862ORPHA3122
HP:0100543HP:0001268Mental deterioration1ADA251816182410Idiopathic livedo reticularis with systemic involvementC0282492OMIM3122
HP:0100543HP:0002354Memory impairment1APP351324708ABeta amyloidosis, Iowa typeORPHA10374
HP:0100543HP:0001268Mental deterioration1ARSA410250100Metachromatic leukodystrophyC0023522OMIM217253
HP:0100543HP:0001268Mental deterioration1ATP1A2477104290Alternating hemiplegia of childhood 1C3549447OMIM85239
HP:0100543HP:0001268Mental deterioration1ATP1A3478614820Alternating hemiplegia of childhood 2C3553788OMIM100150
HP:0100543HP:0001268Mental deterioration1BSCL226580615924Encephalopathy, progressive, with or without lipodystrophyC4014700OMIM45105
HP:0100543HP:0002354Memory impairment1C9ORF72203228275864Behavioral variant of frontotemporal dementiaORPHA2256
HP:0100543HP:0002354Memory impairment1C9ORF72203228100070Familial abdominal aortic aneurysm 1C0162871ORPHA2256
HP:0100543HP:0001268Mental deterioration1CHD211062382Lennox-Gastaut syndromeORPHA39227
HP:0100543HP:0001268Mental deterioration1CHD211061942Myoclonic-astastic epilepsyORPHA39227
HP:0100543HP:0002354Memory impairment1CHMP2B25978275864Behavioral variant of frontotemporal dementiaORPHA2142
HP:0100543HP:0002354Memory impairment1CHMP2B25978100070Familial abdominal aortic aneurysm 1C0162871ORPHA2142
HP:0100543HP:0002354Memory impairment1CHMP2B25978600795Frontotemporal Dementia, Chromosome 3-LinkedC1833296OMIM2142
HP:0100543HP:0001268Mental deterioration1CLN82055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variantC1864923OMIM41111
HP:0100543HP:0001268Mental deterioration1CLN820551947Progressive epilepsy-intellectual disability syndrome, Finnish typeORPHA41111
HP:0100543HP:0001268Mental deterioration1COASY80347615643Neurodegeneration with brain iron accumulation 6C3810230OMIM216
HP:0100543HP:0002354Memory impairment1COX14512550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1COX24513550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1COX34514550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1CSF1R1436221820Hereditary diffuse leukoencephalopathy with spheroidsC1857300OMIM77149
HP:0100543HP:0001268Mental deterioration1CSTB1476254800Unverricht-Lundborg syndromeC0751785OMIM1451
HP:0100543HP:0001268Mental deterioration1CTC180169612199Cerebroretinal microangiopathy with calcifications and cystsC2677299OMIM29160
HP:0100543HP:0001268Mental deterioration1CTSD1509610127Ceroid lipofuscinosis neuronal 10C1864669OMIM15159
HP:0100543HP:0001268Mental deterioration1DCAF17800673464Woodhouse-Sakati syndromeORPHA1287
HP:0100543HP:0001268Mental deterioration1DNM117592382Lennox-Gastaut syndromeORPHA1772
HP:0100543HP:0002354Memory impairment1DNMT11786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantC1858804OMIM20145
HP:0100543HP:0002354Memory impairment1DNMT11786614116Hereditary sensory neuropathy type IEC3279885OMIM20145
HP:0100543HP:0002354Memory impairment1ECM11893247100Lipid proteinosisC0023795OMIM5814
HP:0100543HP:0002354Memory impairment1EIF2B11967603896Leukoencephalopathy with vanishing white matterC1858991OMIM942
HP:0100543HP:0002354Memory impairment1EIF2B28892603896Leukoencephalopathy with vanishing white matterC1858991OMIM2624
HP:0100543HP:0002354Memory impairment1EIF2B38891603896Leukoencephalopathy with vanishing white matterC1858991OMIM2032
HP:0100543HP:0002354Memory impairment1EIF2B48890603896Leukoencephalopathy with vanishing white matterC1858991OMIM3238
HP:0100543HP:0002354Memory impairment1EIF2B58893603896Leukoencephalopathy with vanishing white matterC1858991OMIM9548
HP:0100543HP:0001268Mental deterioration1ERCC22068278730Xeroderma pigmentosum, group DC0268138OMIM94106
HP:0100543HP:0001268Mental deterioration1ERCC62074278800DE SANCTIS-CACCHIONE SYNDROMEC0265201OMIM96199
HP:0100543HP:0001268Mental deterioration1FA2H79152612319Spastic paraplegia 35C3668943OMIM4176
HP:0100543HP:0002354Memory impairment1FGF142259609307Spinocerebellar ataxia 27C1836383OMIM947
HP:0100543HP:0002354Memory impairment1FMR12332300623Fragile X tremor/ataxia syndromeC1839780OMIM8130
HP:0100543HP:0002354Memory impairment1FMR1233293256Fragile X-associated tremor/ataxia syndromeORPHA8130
HP:0100543HP:0001268Mental deterioration1GABRB325622382Lennox-Gastaut syndromeORPHA5057
HP:0100543HP:0001268Mental deterioration1GNAS2778219080Cushing's syndromeC1857451OMIM259101
HP:0100543HP:0002354Memory impairment1GRN2896275864Behavioral variant of frontotemporal dementiaORPHA170126
HP:0100543HP:0002354Memory impairment1GRN2896100070Familial abdominal aortic aneurysm 1C0162871ORPHA170126
HP:0100543HP:0002354Memory impairment1GRN2896607485Frontotemporal dementia, ubiquitin-positiveC1843792OMIM170126
HP:0100543HP:0001268Mental deterioration1MAPK1056022382Lennox-Gastaut syndromeORPHA461
HP:0100543HP:0002354Memory impairment1MAPT4137275864Behavioral variant of frontotemporal dementiaORPHA106140
HP:0100543HP:0002354Memory impairment1MAPT4137100070Familial abdominal aortic aneurysm 1C0162871ORPHA106140
HP:0100543HP:0002354Memory impairment1MAPT4137601104Progressive supranuclear ophthalmoplegiaC0038868OMIM106140
HP:0100543HP:0001268Mental deterioration1MFSD8256471610951Ceroid lipofuscinosis neuronal 7C1838571OMIM41120
HP:0100543HP:0001268Mental deterioration1NBN4683647Ameloonychohypohidrotic syndromeC1863006ORPHA69706
HP:0100543HP:0002354Memory impairment1ND14535550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1ND44538550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1ND54540550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1ND64541550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1NOTCH34854136Dextrocardia with unusual facies and microphthalmiaC1857298ORPHA327144
HP:0100543HP:0001268Mental deterioration1NRAS4893249400Neurocutaneous melanosisC0544862OMIM9102
HP:0100543HP:0002354Memory impairment1PAH505379254Classic phenylketonuriaORPHA907641
HP:0100543HP:0001268Mental deterioration1PDE11A50940610475Pigmented nodular adrenocortical disease, primary, 2C1864851OMIM1913
HP:0100543HP:0001268Mental deterioration1PDGFB5155213600Idiopathic basal ganglia calcification 1C0393590OMIM179
HP:0100543HP:0002354Memory impairment1PDGFB5155213600Idiopathic basal ganglia calcification 1C0393590OMIM179
HP:0100543HP:0002354Memory impairment1PDGFRB5159213600Idiopathic basal ganglia calcification 1C0393590OMIM1128
HP:0100543HP:0001268Mental deterioration1PDGFRB5159213600Idiopathic basal ganglia calcification 1C0393590OMIM1128
HP:0100543HP:0001268Mental deterioration1PLA2G68398610217Neurodegeneration with brain iron accumulation 2bC1857747OMIM155133
HP:0100543HP:0001268Mental deterioration1PLA2G68398612953Parkinson disease 14C2751842OMIM155133
HP:0100543HP:0001268Mental deterioration1PRICKLE2166336613832Epilepsy, progressive myoclonic 5CN226157OMIM6107
HP:0100543HP:0001268Mental deterioration1PRKAR1A5573610489Pigmented nodular adrenocortical disease, primary, 1C1864846OMIM174134
HP:0100543HP:0001268Mental deterioration1PRKCG5582605361Spinocerebellar ataxia 14C1854369OMIM4083
HP:0100543HP:0002354Memory impairment1PRKCG5582605361Spinocerebellar ataxia 14C1854369OMIM4083
HP:0100543HP:0002354Memory impairment1PRNP5621137440Gerstmann-Straussler-Scheinker syndromeC0017495OMIM10269
HP:0100543HP:0002354Memory impairment1PRNP5621123400Jakob-Creutzfeldt diseaseC0022336OMIM10269
HP:0100543HP:0001268Mental deterioration1PSAP5660249900Sphingolipid activator protein 1 deficiencyC0268262OMIM2481
HP:0100543HP:0002354Memory impairment1PSEN15663607822Alzheimer disease, type 3C1843013OMIM297241
HP:0100543HP:0002354Memory impairment1PSEN15663275864Behavioral variant of frontotemporal dementiaORPHA297241
HP:0100543HP:0002354Memory impairment1PSEN15663100070Familial abdominal aortic aneurysm 1C0162871ORPHA297241
HP:0100543HP:0001268Mental deterioration1SCN1A63232382Lennox-Gastaut syndromeORPHA14431053
HP:0100543HP:0001268Mental deterioration1SCN1A6323607208Severe myoclonic epilepsy in infancyC0751122OMIM14431053
HP:0100543HP:0002354Memory impairment1SIM16492369873Obesity due to SIM1 deficiencyORPHA4240
HP:0100543HP:0002354Memory impairment1SLC20A26575213600Idiopathic basal ganglia calcification 1C0393590OMIM6270
HP:0100543HP:0001268Mental deterioration1SLC20A26575213600Idiopathic basal ganglia calcification 1C0393590OMIM6270
HP:0100543HP:0001268Mental deterioration1SLC6A165291942Myoclonic-astastic epilepsyORPHA1629
HP:0100543HP:0001268Mental deterioration1SNCA6622168601Parkinson disease 1C1868595OMIM3765
HP:0100543HP:0001268Mental deterioration1SNORD118727676614561Leukoencephalopathy, brain calcifications, and cystsC3281200OMIM356
HP:0100543HP:0002354Memory impairment1SPAST6683182601Spastic paraplegia 4, autosomal dominantC1866855OMIM659208
HP:0100543HP:0001268Mental deterioration1SPG11802082822Hyperinsulinism, focalORPHA251287
HP:0100543HP:0001268Mental deterioration1SPG1180208604360Spastic paraplegia 11, autosomal recessiveC1858479OMIM251287
HP:0100543HP:0002354Memory impairment1SPG76687607259Spastic paraplegia 7C1846564OMIM104171
HP:0100543HP:0002354Memory impairment1SQSTM18878275864Behavioral variant of frontotemporal dementiaORPHA8862
HP:0100543HP:0001268Mental deterioration1TBC1D2457465352582Familial infantile myoclonic epilepsyORPHA47271
HP:0100543HP:0001268Mental deterioration1TIMM8A1678304700Mohr-Tranebjaerg syndromeC0796074OMIM2115
HP:0100543HP:0002354Memory impairment1TREM254209275864Behavioral variant of frontotemporal dementiaORPHA4331
HP:0100543HP:0002354Memory impairment1TREM254209100070Familial abdominal aortic aneurysm 1C0162871ORPHA4331
HP:0100543HP:0002354Memory impairment1TREM2542092770Nasu-Hakola diseaseORPHA4331
HP:0100543HP:0002354Memory impairment1TREM254209221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyC1857316OMIM4331
HP:0100543HP:0001268Mental deterioration1TREX111277247691Retinal vasculopathy and cerebral leukoencephalopathyORPHA6556
HP:0100543HP:0002354Memory impairment1TRNF4558550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1TRNH4564550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0001268Mental deterioration1TRNK45661349Chromosome 9, partial monosomy 9pC2931695ORPHA
HP:0100543HP:0002354Memory impairment1TRNL14567550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1TRNQ4572550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1TRNS14574550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1TRNS24575550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1TRNW4578550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0100543HP:0002354Memory impairment1TYROBP73052770Nasu-Hakola diseaseORPHA1422
HP:0100543HP:0002354Memory impairment1TYROBP7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyC1857316OMIM1422
HP:0100543HP:0002354Memory impairment1VAMP16843108600Ataxia, spastic, 1, autosomal dominantC1970107OMIM42
HP:0100543HP:0002354Memory impairment1VCP7415275864Behavioral variant of frontotemporal dementiaORPHA5263
HP:0100543HP:0002354Memory impairment1VCP7415100070Familial abdominal aortic aneurysm 1C0162871ORPHA5263
HP:0100543HP:0002354Memory impairment1VPS13A232302388Friedreich ataxia congenital glaucomaC1856688ORPHA113130
HP:0100543HP:0001268Mental deterioration1XPA7507278700Xeroderma pigmentosum, type 1C0268135OMIM4834
HP:0100543HP:0002354Memory impairment1XPR19213616413Basal ganglia calcification, idiopathic, 6C4225335OMIM54
HP:0100543HP:0000726Dementia2AARS257505615889Leukoencephalopathy, progressive, with ovarian failureC4014588OMIM26143
HP:0100543HP:0002344Progressive neurologic deterioration2ABCC86833276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyORPHA612245
HP:0100543HP:0000726Dementia2ABCD1215300100AdrenoleukodystrophyC0162309OMIM657135
HP:0100543HP:0000726Dementia2ADA251816820Bardet-Biedl syndrome 1C2936862ORPHA3122
HP:0100543HP:0000726Dementia2AMN81693261100Megaloblastic anemia due to inborn errors of metabolismC1306856OMIM3225
HP:0100543HP:0000726Dementia2APOE348104310Alzheimer disease 2C1863051OMIM6039
HP:0100543HP:0000726Dementia2APOE348606889Alzheimer disease, type 4C1847200OMIM6039
HP:0100543HP:0000726Dementia2APP351100006ABeta amyloidosis, Dutch typeORPHA10374
HP:0100543HP:0000726Dementia2APP351324708ABeta amyloidosis, Iowa typeORPHA10374
HP:0100543HP:0000726Dementia2APP351324713ABeta amyloidosis, Italian typeORPHA10374
HP:0100543HP:0000726Dementia2APP351324703ABetaL34V amyloidosisORPHA10374
HP:0100543HP:0000726Dementia2APP351104300Alzheimer's diseaseC0002395OMIM10374
HP:0100543HP:0000726Dementia2APP351605714Cerebral amyloid angiopathy, APP-relatedC2751536OMIM10374
HP:0100543HP:0000726Dementia2ASAH1427159950Jankovic Rivera syndromeC1834569OMIM5578
HP:0100543HP:0000726Dementia2ASAH14272590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeORPHA5578
HP:0100543HP:0000726Dementia2ATP13A223400606693Parkinson disease 9C1847640OMIM38100
HP:0100543HP:0000726Dementia2ATP64508551500Neuropathy ataxia retinitis pigmentosa syndromeC1838914OMIM
HP:0100543HP:0000726Dementia2ATP7B540277900Wilson diseaseC0019202OMIM878315
HP:0100543HP:0000726Dementia2ATXN1025814603516Spinocerebellar ataxia 10C1963674OMIM49
HP:0100543HP:0000726Dementia2ATXN26311183090Spinocerebellar ataxia 2C0752121OMIM3911
HP:0100543HP:0000726Dementia2ATXN34287109150Azorean diseaseC0024408OMIM314
HP:0100543HP:0000726Dementia2C19ORF1283636614298Neurodegeneration with brain iron accumulation 4C3280371OMIM36114
HP:0100543HP:0000726Dementia2CERS110715616230Epilepsy, progressive myoclonic 8C4015619OMIM11
HP:0100543HP:0002361Psychomotor deterioration2CLN31201204200Juvenile neuronal ceroid lipofuscinosisC0751383OMIM66216
HP:0100543HP:0000726Dementia2CLN31201204200Juvenile neuronal ceroid lipofuscinosisC0751383OMIM66216
HP:0100543HP:0002333Motor deterioration2CLN51203256731Ceroid lipofuscinosis neuronal 5C1850442OMIM43141
HP:0100543HP:0000726Dementia2CLN654982204300Adult neuronal ceroid lipofuscinosisC0022797OMIM80143
HP:0100543HP:0002333Motor deterioration2CLN654982601780Ceroid lipofuscinosis neuronal 6C1866282OMIM80143
HP:0100543HP:0000726Dementia2COX14512540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2COX24513540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2COX34514540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2CP135648818AceruloplasminemiaORPHA51115
HP:0100543HP:0000726Dementia2CP1356604290Deficiency of ferroxidaseC0878682OMIM51115
HP:0100543HP:0000726Dementia2CST31471105150Hereditary cerebral amyloid angiopathy, Icelandic typeC1527338OMIM53
HP:0100543HP:0002344Progressive neurologic deterioration2CTNS1497219800Nephropathic cystinosisC0010690OMIM141178
HP:0100543HP:0000726Dementia2CTSF8722615362Ceroid lipofuscinosis, neuronal, 13C3715049OMIM920
HP:0100543HP:0010534Transient global amnesia2CTSH15122073Narcolepsy-cataplexy syndromeORPHA11
HP:0100543HP:0000726Dementia2CUBN8029261100Megaloblastic anemia due to inborn errors of metabolismC1306856OMIM53273
HP:0100543HP:0000726Dementia2CYP27A11593213700Cholestanol storage diseaseC0238052OMIM103114
HP:0100543HP:0000726Dementia2CYTB4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0007086Social and occupational deterioration2DISC227184181500SchizophreniaC0036341OMIM
HP:0100543HP:0000726Dementia2DNMT11786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantC1858804OMIM20145
HP:0100543HP:0000726Dementia2DNMT11786614116Hereditary sensory neuropathy type IEC3279885OMIM20145
HP:0100543HP:0002344Progressive neurologic deterioration2EPM2A7957254780Lafora diseaseC0751783OMIM7483
HP:0100543HP:0000726Dementia2EPM2A7957254780Lafora diseaseC0751783OMIM7483
HP:0100543HP:0000726Dementia2ERCC81161216400Cockayne syndrome type AC0751039OMIM4155
HP:0100543HP:0000726Dementia2FMR12332300623Fragile X tremor/ataxia syndromeC1839780OMIM8130
HP:0100543HP:0000726Dementia2FMR1233293256Fragile X-associated tremor/ataxia syndromeORPHA8130
HP:0100543HP:0000726Dementia2FTL2512606159NeuroferritinopathyC1853578OMIM6133
HP:0100543HP:0002333Motor deterioration2GALC2581245200Galactosylceramide beta-galactosidase deficiencyC0023521OMIM230160
HP:0100543HP:0002344Progressive neurologic deterioration2GBA2629230900Acute neuronopathic Gaucher's diseaseC0268250OMIM460108
HP:0100543HP:0000726Dementia2GBA262977261Gaucher disease type 3ORPHA460108
HP:0100543HP:0002344Progressive neurologic deterioration2GBA2629608013Gaucher disease, perinatal lethalC1842704OMIM460108
HP:0100543HP:0000726Dementia2GBA2629231000Subacute neuronopathic Gaucher's diseaseC0268251OMIM460108
HP:0100543HP:0002344Progressive neurologic deterioration2GBA2629231000Subacute neuronopathic Gaucher's diseaseC0268251OMIM460108
HP:0100543HP:0002344Progressive neurologic deterioration2GCH12643233910GTP cyclohydrolase I deficiencyC0268467OMIM22986
HP:0100543HP:0000726Dementia2GM2A2760272750Tay-Sachs disease, variant ABC0268275OMIM969
HP:0100543HP:0010534Transient global amnesia2HCRT30602073Narcolepsy-cataplexy syndromeORPHA21
HP:0100543HP:0002344Progressive neurologic deterioration2HEPACAM220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2aC3151355OMIM2382
HP:0100543HP:0000726Dementia2HEXA3073272800Tay-Sachs diseaseC0039373OMIM182152
HP:0100543HP:0002361Psychomotor deterioration2HEXA3073272800Tay-Sachs diseaseC0039373OMIM182152
HP:0100543HP:0002333Motor deterioration2HGSNAT138050252930Mucopolysaccharidosis, MPS-III-CC0086649OMIM6886
HP:0100543HP:0010534Transient global amnesia2HLA-DQB131192073Narcolepsy-cataplexy syndromeORPHA12
HP:0100543HP:0010534Transient global amnesia2HLA-DRB131232073Narcolepsy-cataplexy syndromeORPHA232
HP:0100543HP:0002344Progressive neurologic deterioration2HNF1A6927324575Hyperinsulinism due to HNF1A deficiencyORPHA519161
HP:0100543HP:0002344Progressive neurologic deterioration2HNF4A3172263455Hyperinsulinism due to HNF4A deficiencyORPHA149138
HP:0100543HP:0002344Progressive neurologic deterioration2HSD17B1030283004382-methyl-3-hydroxybutyric aciduriaC1845517OMIM1319
HP:0100543HP:0000726Dementia2HTRA15654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathyC1838577OMIM3334
HP:0100543HP:0000726Dementia2HTT306439946,XX testicular disorder of sex developmentC2936420ORPHA812
HP:0100543HP:0000726Dementia2HTT3064143100Huntington's choreaC0020179OMIM812
HP:0100543HP:0002344Progressive neurologic deterioration2IDUA3425607014Hurler syndromeC0086795OMIM249115
HP:0100543HP:0000726Dementia2IRF63664119500Popliteal pterygium syndromeC0265259OMIM33799
HP:0100543HP:0002344Progressive neurologic deterioration2ITM2B9445176500Dementia familial BritishC1867773OMIM33
HP:0100543HP:0000726Dementia2ITM2B9445176500Dementia familial BritishC1867773OMIM33
HP:0100543HP:0000726Dementia2ITM2B9445117300Dementia, familial DanishC1861735OMIM33
HP:0100543HP:0000726Dementia2JPH357338606438Huntington disease-like 2C1847987OMIM12
HP:0100543HP:0002344Progressive neurologic deterioration2KCNJ113767276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyORPHA175127
HP:0100543HP:0002344Progressive neurologic deterioration2LMNB14001169500Leukodystrophy, adult-onset, autosomal dominantC1868512OMIM3344
HP:0100543HP:0000726Dementia2MAPT4137260540Parkinson-dementia syndromeC1850076OMIM106140
HP:0100543HP:0000726Dementia2MECP24204312750Rett syndromeC0035372OMIM960950
HP:0100543HP:0002333Motor deterioration2MECP24204312750Rett syndromeC0035372OMIM960950
HP:0100543HP:0010534Transient global amnesia2MEN1422197279InsulinomaORPHA710462
HP:0100543HP:0000726Dementia2MMACHC25974277400Methylmalonic acidemia with homocystinuriaC1848561OMIM90101
HP:0100543HP:0010534Transient global amnesia2MOG43402073Narcolepsy-cataplexy syndromeORPHA21
HP:0100543HP:0002344Progressive neurologic deterioration2NAGLU4669252920Mucopolysaccharidosis, MPS-III-BC0086648OMIM16672
HP:0100543HP:0000726Dementia2ND14535540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2ND54540540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2ND64541540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2NDP4693310600Atrophia bulborum hereditariaC0266526OMIM15739
HP:0100543HP:0002344Progressive neurologic deterioration2NHLRC1378884254780Lafora diseaseC0751783OMIM7077
HP:0100543HP:0000726Dementia2NHLRC1378884254780Lafora diseaseC0751783OMIM7077
HP:0100543HP:0000726Dementia2NOTCH34854136Dextrocardia with unusual facies and microphthalmiaC1857298ORPHA327144
HP:0100543HP:0000726Dementia2NPC14864257220Niemann-Pick disease type C1C3179455OMIM445258
HP:0100543HP:0000726Dementia2NPC210577607625Niemann-Pick disease type C2C1843366OMIM2733
HP:0100543HP:0000726Dementia2NR4A24929168600Parkinson disease, late-onsetC3160718OMIM1827
HP:0100543HP:0010534Transient global amnesia2P2RY1150322073Narcolepsy-cataplexy syndromeORPHA32
HP:0100543HP:0000726Dementia2PANK280025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degenerationC1846582OMIM15355
HP:0100543HP:0000726Dementia2PANK280025234200Pigmentary pallidal degenerationC0018523OMIM15355
HP:0100543HP:0000726Dementia2PDGFB5155615483Idiopathic basal ganglia calcification 5C3809645OMIM179
HP:0100543HP:0002344Progressive neurologic deterioration2PDGFRB5159616592Kosaki overgrowth syndromeC4225270OMIM1128
HP:0100543HP:0000726Dementia2PINK165018605909Parkinson disease 6, autosomal recessive early-onsetC1853833OMIM13655
HP:0100543HP:0002361Psychomotor deterioration2PLP15354312080Pelizaeus-Merzbacher diseaseC0205711OMIM31660
HP:0100543HP:0000726Dementia2POLG5428203700Progressive sclerosing poliodystrophyC0205710OMIM277464
HP:0100543HP:0000726Dementia2PPP2R2B5521604326Spinocerebellar ataxia 12C1858501OMIM65
HP:0100543HP:0002361Psychomotor deterioration2PPT15538256730Ceroid lipofuscinosis neuronal 1C1850451OMIM77172
HP:0100543HP:0002549Deficit in phonologic short-term memory2PRNP5621280397Familial Alzheimer-like prion diseaseORPHA10269
HP:0100543HP:0000726Dementia2PRNP5621600072Fatal familial insomniaC0206042OMIM10269
HP:0100543HP:0000726Dementia2PRNP5621137440Gerstmann-Straussler-Scheinker syndromeC0017495OMIM10269
HP:0100543HP:0000726Dementia2PRNP5621603218Huntington disease-like 1C1864112OMIM10269
HP:0100543HP:0000726Dementia2PRNP5621123400Jakob-Creutzfeldt diseaseC0022336OMIM10269
HP:0100543HP:0000726Dementia2PRNP5621606688Spongiform encephalopathy with neuropsychiatric featuresC1847650OMIM10269
HP:0100543HP:0000726Dementia2PSEN15663607822Alzheimer disease, type 3C1843013OMIM297241
HP:0100543HP:0000726Dementia2PSEN25664606889Alzheimer disease, type 4C1847200OMIM5459
HP:0100543HP:0002344Progressive neurologic deterioration2PTS58052616406-pyruvoyl-tetrahydropterin synthase deficiencyC0878676OMIM8819
HP:0100543HP:0002344Progressive neurologic deterioration2QDPR5860261630Dihydropteridine reductase deficiencyC0268465OMIM6143
HP:0100543HP:0002333Motor deterioration2RBM2855131612079Alopecia, neurologic defects, and endocrinopathy syndromeC2677535OMIM11
HP:0100543HP:0000726Dementia2RNF21654476212840Gordon Holmes syndromeC1859305OMIM1210
HP:0100543HP:0000726Dementia2ROGDI796411946Amelo-cerebro-hypohidrotic syndromeORPHA1057
HP:0100543HP:0000726Dementia2ROGDI79641226750Kohlschutter's syndromeC0406740OMIM1057
HP:0100543HP:0002344Progressive neurologic deterioration2RRM2B50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathyC2749861OMIM41125
HP:0100543HP:0000726Dementia2SERPINI15274604218Encephalopathy, familial, with neuroserpin inclusion bodiesC1858680OMIM728
HP:0100543HP:0000726Dementia2SLC2A3651539946,XX testicular disorder of sex developmentC2936420ORPHA31
HP:0100543HP:0000726Dementia2SNCA6622127750Lewy body dementiaC0752347OMIM3765
HP:0100543HP:0000726Dementia2SNCA6622605543Parkinson disease 4C1854182OMIM3765
HP:0100543HP:0000726Dementia2SNCAIP9627168600Parkinson disease, late-onsetC3160718OMIM535
HP:0100543HP:0000726Dementia2SNCB6620127750Lewy body dementiaC0752347OMIM22
HP:0100543HP:0000726Dementia2SPAST6683182601Spastic paraplegia 4, autosomal dominantC1866855OMIM659208
HP:0100543HP:0000726Dementia2SPG2151324248900Mast syndromeC1855346OMIM228
HP:0100543HP:0000726Dementia2TBX189096143100Huntington's choreaC0020179OMIM85
HP:0100543HP:0000726Dementia2TIMM8A1678311150Jensen syndromeC1839564OMIM2115
HP:0100543HP:0002344Progressive neurologic deterioration2TINF226277268130Revesz syndromeC1327916OMIM3460
HP:0100543HP:0010534Transient global amnesia2TNFSF472922073Narcolepsy-cataplexy syndromeORPHA7
HP:0100543HP:0000726Dementia2TREX111277192315Vasculopathy, retinal, with cerebral leukodystrophyC1860518OMIM6556
HP:0100543HP:0007017Progressive forgetfulness2TREX111277192315Vasculopathy, retinal, with cerebral leukodystrophyC1860518OMIM6556
HP:0100543HP:0000726Dementia2TRNC4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TRNF4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TRNK4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TRNL14567540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TRNQ4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TRNS14574540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TRNS24575540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TRNV4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TRNW4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0100543HP:0000726Dementia2TTR7276105210Amyloidogenic transthyretin amyloidosisC2751492OMIM140107
HP:0100543HP:0000726Dementia2TWNK56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3C1836439OMIM74113
HP:0100543HP:0002344Progressive neurologic deterioration2UCP27351276556Hyperinsulinism due to UCP2 deficiencyORPHA1015
HP:0100543HP:0000726Dementia2WDR4511152300894Neurodegeneration with brain iron accumulation 5C3550973OMIM5951
HP:0100543HP:0000726Dementia2WFS17466411590Wolfram-like syndromeORPHA353389
HP:0100543HP:0000726Dementia2XPR19213616413Basal ganglia calcification, idiopathic, 6C4225335OMIM54
HP:0100543HP:0010534Transient global amnesia2ZNF365228912073Narcolepsy-cataplexy syndromeORPHA23
HP:0100543HP:0002145Frontotemporal dementia3C9ORF72203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1C1862937OMIM2256
HP:0100543HP:0002145Frontotemporal dementia3C9ORF72203228275864Behavioral variant of frontotemporal dementiaORPHA2256
HP:0100543HP:0002145Frontotemporal dementia3C9ORF72203228100070Familial abdominal aortic aneurysm 1C0162871ORPHA2256
HP:0100543HP:0000727Frontal lobe dementia3CHCHD10400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2C4014648OMIM1811
HP:0100543HP:0002145Frontotemporal dementia3CHCHD10400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2C4014648OMIM1811
HP:0100543HP:0002145Frontotemporal dementia3CHMP2B25978275864Behavioral variant of frontotemporal dementiaORPHA2142
HP:0100543HP:0002145Frontotemporal dementia3CHMP2B25978100070Familial abdominal aortic aneurysm 1C0162871ORPHA2142
HP:0100543HP:0002145Frontotemporal dementia3CHMP2B25978600795Frontotemporal Dementia, Chromosome 3-LinkedC1833296OMIM2142
HP:0100543HP:0007064Progressive language deterioration3CNTNAP226047610042Cortical dysplasia-focal epilepsy syndromeC1864887OMIM72518
HP:0100543HP:0000727Frontal lobe dementia3CSF1R1436221820Hereditary diffuse leukoencephalopathy with spheroidsC1857300OMIM77149
HP:0100543HP:0007272Progressive psychomotor deterioration3GLB12720230600GM1 gangliosidosis type 2C0268272OMIM213120
HP:0100543HP:0002145Frontotemporal dementia3GRN2896275864Behavioral variant of frontotemporal dementiaORPHA170126
HP:0100543HP:0002145Frontotemporal dementia3GRN2896100070Familial abdominal aortic aneurysm 1C0162871ORPHA170126
HP:0100543HP:0002145Frontotemporal dementia3GRN2896607485Frontotemporal dementia, ubiquitin-positiveC1843792OMIM170126
HP:0100543HP:0007064Progressive language deterioration3GRN2896607485Frontotemporal dementia, ubiquitin-positiveC1843792OMIM170126
HP:0100543HP:0007272Progressive psychomotor deterioration3HEXB3074268800Sandhoff diseaseC0036161OMIM10880
HP:0100543HP:0002145Frontotemporal dementia3HNRNPA2B13181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2C3809468OMIM55
HP:0100543HP:0002145Frontotemporal dementia3MAPT4137275864Behavioral variant of frontotemporal dementiaORPHA106140
HP:0100543HP:0002145Frontotemporal dementia3MAPT4137100070Familial abdominal aortic aneurysm 1C0162871ORPHA106140
HP:0100543HP:0000727Frontal lobe dementia3MAPT4137600274Frontotemporal dementiaC0338451OMIM106140
HP:0100543HP:0002145Frontotemporal dementia3MAPT4137600274Frontotemporal dementiaC0338451OMIM106140
HP:0100543HP:0002145Frontotemporal dementia3MAPT4137172700Pick's diseaseC0236642OMIM106140
HP:0100543HP:0002439Frontolimbic dementia3MAPT4137601104Progressive supranuclear ophthalmoplegiaC0038868OMIM106140
HP:0100543HP:0007123Subcortical dementia3NOTCH34854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyC1272305OMIM327144
HP:0100543HP:0002145Frontotemporal dementia3PSEN15663275864Behavioral variant of frontotemporal dementiaORPHA297241
HP:0100543HP:0002145Frontotemporal dementia3PSEN15663100070Familial abdominal aortic aneurysm 1C0162871ORPHA297241
HP:0100543HP:0000727Frontal lobe dementia3PSEN15663600274Frontotemporal dementiaC0338451OMIM297241
HP:0100543HP:0002145Frontotemporal dementia3PSEN15663600274Frontotemporal dementiaC0338451OMIM297241
HP:0100543HP:0002145Frontotemporal dementia3PSEN15663172700Pick's diseaseC0236642OMIM297241
HP:0100543HP:0002145Frontotemporal dementia3SQSTM18878275864Behavioral variant of frontotemporal dementiaORPHA8862
HP:0100543HP:0002145Frontotemporal dementia3SQSTM18878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3C4225326OMIM8862
HP:0100543HP:0007307Rapid neurologic deterioration3SUMF1285362585Al Gazali Hirschsprung syndromeC1856110ORPHA5180
HP:0100543HP:0007307Rapid neurologic deterioration3SUMF1285362272200Multiple sulfatase deficiencyC0268263OMIM5180
HP:0100543HP:0002145Frontotemporal dementia3TBK129110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4C4225325OMIM11020
HP:0100543HP:0000727Frontal lobe dementia3TBP6908607136Spinocerebellar ataxia 17C1846707OMIM177
HP:0100543HP:0002145Frontotemporal dementia3TREM254209275864Behavioral variant of frontotemporal dementiaORPHA4331
HP:0100543HP:0002145Frontotemporal dementia3TREM254209100070Familial abdominal aortic aneurysm 1C0162871ORPHA4331
HP:0100543HP:0000727Frontal lobe dementia3TREM2542092770Nasu-Hakola diseaseORPHA4331
HP:0100543HP:0000727Frontal lobe dementia3TREM254209221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyC1857316OMIM4331
HP:0100543HP:0000727Frontal lobe dementia3TYROBP73052770Nasu-Hakola diseaseORPHA1422
HP:0100543HP:0000727Frontal lobe dementia3TYROBP7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyC1857316OMIM1422
HP:0100543HP:0002145Frontotemporal dementia3UBQLN229978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementiaC3275459OMIM2320
HP:0100543HP:0002145Frontotemporal dementia3VCP7415275864Behavioral variant of frontotemporal dementiaORPHA5263
HP:0100543HP:0002145Frontotemporal dementia3VCP7415100070Familial abdominal aortic aneurysm 1C0162871ORPHA5263
HP:0100543HP:0002145Frontotemporal dementia3VCP7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementiaC1833662OMIM5263
HP:0100543HP:0030219Semantic dementia4
Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (304) :AARS2 AASS ABCC8 ABCD1 ACTB ADA2 ADAMTSL4 AKT1 ALG12 ALG2 ALG9 AMN APOE APP APTX ARSA ASAH1 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP7B ATR ATRIP ATXN1 ATXN10 ATXN2 ATXN3 AUH B3GALNT2 BBIP1 BBS10 BBS12 BBS5 BSCL2 C19ORF12 C9ORF72 CCDC78 CENPE CENPJ CEP152 CERS1 CHCHD10 CHD2 CHL1 CHMP2B CLCF1 CLMP CLN3 CLN5 CLN6 CLN8 CNTN4 CNTNAP2 COASY COL3A1 COL5A1 COX1 COX2 COX3 CP CRBN CRLF1 CSF1R CST3 CSTB CTC1 CTDP1 CTNS CTSD CTSF CTSH CUBN CYP27A1 CYTB DCAF17 DDB2 DISC2 DNM1 DNMT1 DOLK DSTYK ECM1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EPM2A ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF FA2H FAS FBN1 FGD1 FGF14 FGFR3 FKRP FKTN FLNA FMR1 FTL GABRB3 GALC GBA GBE1 GCH1 GDF5 GJB2 GJC2 GLA GLB1 GM2A GMPPB GNAS GRID2 GRN HCRT HEPACAM HEXA HEXB HGSNAT HLA-DQB1 HLA-DRB1 HNF1A HNF4A HNRNPA2B1 HSD17B10 HTRA1 HTT IDUA INSR IRF6 ITGA7 ITM2B JPH3 KATNB1 KCNJ11 KCNT1 KLLN LAMP2 LARGE1 LMNB1 LZTFL1 MAOA MAPK10 MAPT MARS2 MECP2 MEN1 MFSD8 MMACHC MOG MPDU1 MTFMT MTO1 NAGA NAGLU NAGS NBN ND1 ND4 ND5 ND6 NDP NHLRC1 NOTCH3 NPC1 NPC2 NPHP1 NR4A2 NRAS OCRL OPA3 P2RY11 PAH PANK2 PCNT PDE11A PDGFB PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM3 PIK3CA PINK1 PLA2G6 PLK4 PLP1 POLG POMGNT1 POMK POMT1 POMT2 PORCN PPP2R2B PPT1 PRICKLE2 PRKAR1A PRKCG PRNP PSAP PSEN1 PSEN2 PTEN PTPN22 PTS QDPR RBBP8 RBM28 RIN2 RNF216 RNR1 ROBO3 ROGDI RRM2B SCN1A SCN8A SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SERPINI1 SIM1 SLC18A2 SLC20A2 SLC2A3 SLC6A1 SMC1A SNCA SNCAIP SNCB SNORD118 SOST SPAST SPG11 SPG21 SPG7 SQSTM1 SUMF1 TBC1D24 TBK1 TBL1XR1 TBP TBX18 TIMM8A TINF2 TMEM240 TNFSF4 TRAIP TREM2 TREX1 TRNC TRNF TRNH TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNV TRNW TSC1 TSFM TTC19 TTC37 TTC8 TTR TWNK TYROBP UBA1 UBQLN2 UCP2 VAMP1 VCP VPS13A WDR45 WDR73 WFS1 XPA XPC XPR1 XRCC4 ZNF365

Diseases (264) :238700 1885 201 79324 79326 79328 208920 808 164400 250950 588 615995 615987 615989 615983 614807 1620 1545 2301 286 604168 910 91131 270750 616390 2343 3437 915 93274 263570 968 494 608804 324 103580 612462 612463 616204 508 613204 616212 615005 300257 615994 3057 611390 79323 614947 614702 609242 237310 551 609583 300555 258501 912 615816 607459 616094 2092 217335 2744 614306 615993 252011 352649 300590 269500 270710 607454 607341 610505 615157 222470 615985 1145 2065 616541 79107 820 182410 324708 250100 104290 614820 615924 275864 100070 2382 1942 600795 610003 1947 615643 550 221820 254800 612199 610127 3464 604121 614116 247100 603896 278730 278800 612319 609307 300623 93256 219080 607485 601104 610951 647 136 249400 79254 610475 213600 610217 612953 613832 610489 605361 137440 123400 249900 607822 607208 369873 168601 614561 182601 2822 604360 607259 352582 304700 2770 221770 247691 1349 108600 2388 278700 616413 615889 276575 300100 261100 104310 606889 100006 324713 324703 104300 605714 159950 2590 606693 551500 277900 603516 183090 109150 614298 616230 204200 256731 204300 601780 540000 48818 604290 105150 219800 615362 2073 213700 181500 254780 216400 606159 245200 230900 77261 608013 231000 233910 272750 613925 272800 252930 324575 263455 300438 600142 399 143100 607014 119500 176500 117300 606438 276580 169500 260540 312750 97279 277400 252920 310600 257220 607625 168600 607236 234200 615483 616592 605909 312080 203700 604326 256730 280397 600072 603218 606688 261640 261630 612079 212840 1946 226750 612075 604218 127750 605543 248900 311150 268130 192315 105210 609286 276556 300894 411590 105550 615911 610042 230600 268800 615422 600274 172700 125310 616437 585 272200 616439 607136 300857 167320
 
       Child Nodes:
........expandMental deterioration (HP:0001268) help
................... HP:0000726 Dementia
................... HP:0002333 Motor deterioration
................... HP:0002344 Progressive neurologic deterioration
................... HP:0002361 Psychomotor deterioration
................... HP:0007086 Social and occupational deterioration
........expandMemory impairment (HP:0002354) help
................... HP:0002549 Deficit in phonologic short-term memory
................... HP:0007017 Progressive forgetfulness
................... HP:0010534 Transient global amnesia

 Sister Nodes: 
..expandAgnosia (HP:0010524) help
..expandApraxia (HP:0002186) help
..expandLanguage impairment (HP:0002463) help
..expandNeurological speech impairment (HP:0002167) help
..expandReduced consciousness/confusion (HP:0004372) help
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.