Human Phenotype Ontology 
Grandparent Node:
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Mental deterioration (HP:0001268)help
Parent Node:
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Dementia (HP:0000726)help
..Starting node
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Frontotemporal dementia (HP:0002145)help
Term ID: 2145
Name: Frontotemporal dementia
Synonym:
Definition: A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.
Comments:
Reference: HP:0002145
Genes and Diseases:
 
       Child Nodes:
........expandSemantic dementia (HP:0030219) help

 Sister Nodes: 
..expandFrontal lobe dementia (HP:0000727) help
..expandFrontolimbic dementia (HP:0002439) help
..expandSubcortical dementia (HP:0007123) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228100070ORPHA116528337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228100070ORPHA116128337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116528337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116128337614260
HP:0002145HP:0002145Frontotemporal dementia0CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0002145HP:0002145Frontotemporal dementia0CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0002145HP:0002145Frontotemporal dementia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM123015559615903
HP:0002145HP:0002145Frontotemporal dementia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM120515559615903
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978100070ORPHA113024537609512
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978100070ORPHA111024537609512
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0002145HP:0002145Frontotemporal dementia0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM16932711601143
HP:0002145HP:0002145Frontotemporal dementia0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM15652711601143
HP:0002145HP:0002145Frontotemporal dementia0FUS CL E G H2521275872ORPHA13394010137070
HP:0002145HP:0002145Frontotemporal dementia0FUS CL E G H2521275872ORPHA13234010137070
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896100070ORPHA13584601138945
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896275864ORPHA13584601138945
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896100070ORPHA13024601138945
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896275864ORPHA13024601138945
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM13584601138945
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM13024601138945
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA1 CL E G H317852430ORPHA1605031164017
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA1 CL E G H317852430ORPHA1595031164017
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA2B1 CL E G H318152430ORPHA11555033600124
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA2B1 CL E G H318152430ORPHA11265033600124
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11555033600124
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11265033600124
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137275864ORPHA14886893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137100070ORPHA14886893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137275864ORPHA14656893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137100070ORPHA14656893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM14886893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM14656893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0002145HP:0002145Frontotemporal dementia0PLA2G6 CL E G H8398199351ORPHA15139039603604
HP:0002145HP:0002145Frontotemporal dementia0PLA2G6 CL E G H8398199351ORPHA14319039603604
HP:0002145HP:0002145Frontotemporal dementia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15139039603604
HP:0002145HP:0002145Frontotemporal dementia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM14319039603604
HP:0002145HP:0002145Frontotemporal dementia0PRKAR1B CL E G H5575412066ORPHA11619390176911
HP:0002145HP:0002145Frontotemporal dementia0PRKAR1B CL E G H5575412066ORPHA11449390176911
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663100070ORPHA14319508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663275864ORPHA14319508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663100070ORPHA14089508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663275864ORPHA14089508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM14319508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM14089508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14319508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14089508104311
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878275872ORPHA147311280601530
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878275864ORPHA147311280601530
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878275864ORPHA138311280601530
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878275872ORPHA138311280601530
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM147311280601530
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM138311280601530
HP:0002145HP:0002145Frontotemporal dementia0TARDBP CL E G H23435275872ORPHA122511571605078
HP:0002145HP:0002145Frontotemporal dementia0TARDBP CL E G H23435275872ORPHA121411571605078
HP:0002145HP:0002145Frontotemporal dementia0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM122511571605078
HP:0002145HP:0002145Frontotemporal dementia0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM121411571605078
HP:0002145HP:0002145Frontotemporal dementia0TBK1 CL E G H29110275872ORPHA126911584604834
HP:0002145HP:0002145Frontotemporal dementia0TBK1 CL E G H29110275872ORPHA120611584604834
HP:0002145HP:0002145Frontotemporal dementia0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM126911584604834
HP:0002145HP:0002145Frontotemporal dementia0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM120611584604834
HP:0002145HP:0002145Frontotemporal dementia0TMEM106B CL E G H54664100070ORPHA17422407613413
HP:0002145HP:0002145Frontotemporal dementia0TMEM106B CL E G H54664275864ORPHA17422407613413
HP:0002145HP:0002145Frontotemporal dementia0TMEM106B CL E G H54664100070ORPHA16222407613413
HP:0002145HP:0002145Frontotemporal dementia0TMEM106B CL E G H54664275864ORPHA16222407613413
HP:0002145HP:0002145Frontotemporal dementia0TREM2 CL E G H54209100070ORPHA19417761605086
HP:0002145HP:0002145Frontotemporal dementia0TREM2 CL E G H54209275864ORPHA19417761605086
HP:0002145HP:0002145Frontotemporal dementia0TREM2 CL E G H54209100070ORPHA16417761605086
HP:0002145HP:0002145Frontotemporal dementia0TREM2 CL E G H54209275864ORPHA16417761605086
HP:0002145HP:0002145Frontotemporal dementia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM121712509300264
HP:0002145HP:0002145Frontotemporal dementia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM120012509300264
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H741552430ORPHA139512666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415275864ORPHA139512666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415275872ORPHA139512666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415100070ORPHA139512666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H741552430ORPHA135612666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415275864ORPHA135612666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415275872ORPHA135612666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415100070ORPHA135612666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228100070ORPHA116528337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228100070ORPHA116128337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116528337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116128337614260
HP:0002145HP:0030219Semantic dementia1CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0002145HP:0030219Semantic dementia1CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0002145HP:0030219Semantic dementia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM123015559615903
HP:0002145HP:0030219Semantic dementia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM120515559615903
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978100070ORPHA113024537609512
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978100070ORPHA111024537609512
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0002145HP:0030219Semantic dementia1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM16932711601143
HP:0002145HP:0030219Semantic dementia1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM15652711601143
HP:0002145HP:0030219Semantic dementia1FUS CL E G H2521275872ORPHA13394010137070
HP:0002145HP:0030219Semantic dementia1FUS CL E G H2521275872ORPHA13234010137070
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896100070ORPHA13584601138945
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896275864ORPHA13584601138945
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896100070ORPHA13024601138945
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896275864ORPHA13024601138945
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM13584601138945
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM13024601138945
HP:0002145HP:0030219Semantic dementia1HNRNPA1 CL E G H317852430ORPHA1605031164017
HP:0002145HP:0030219Semantic dementia1HNRNPA1 CL E G H317852430ORPHA1595031164017
HP:0002145HP:0030219Semantic dementia1HNRNPA2B1 CL E G H318152430ORPHA11555033600124
HP:0002145HP:0030219Semantic dementia1HNRNPA2B1 CL E G H318152430ORPHA11265033600124
HP:0002145HP:0030219Semantic dementia1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11555033600124
HP:0002145HP:0030219Semantic dementia1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11265033600124
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137100070ORPHA14886893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137275864ORPHA14886893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137100070ORPHA14656893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137275864ORPHA14656893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM14886893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM14656893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0002145HP:0030219Semantic dementia1PLA2G6 CL E G H8398199351ORPHA15139039603604
HP:0002145HP:0030219Semantic dementia1PLA2G6 CL E G H8398199351ORPHA14319039603604
HP:0002145HP:0030219Semantic dementia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15139039603604
HP:0002145HP:0030219Semantic dementia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM14319039603604
HP:0002145HP:0030219Semantic dementia1PRKAR1B CL E G H5575412066ORPHA11619390176911
HP:0002145HP:0030219Semantic dementia1PRKAR1B CL E G H5575412066ORPHA11449390176911
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663100070ORPHA14319508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663275864ORPHA14319508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663275864ORPHA14089508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663100070ORPHA14089508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM14319508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM14089508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14319508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14089508104311
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878275864ORPHA147311280601530
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878275872ORPHA147311280601530
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878275864ORPHA138311280601530
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878275872ORPHA138311280601530
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM147311280601530
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM138311280601530
HP:0002145HP:0030219Semantic dementia1TARDBP CL E G H23435275872ORPHA122511571605078
HP:0002145HP:0030219Semantic dementia1TARDBP CL E G H23435275872ORPHA121411571605078
HP:0002145HP:0030219Semantic dementia1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM122511571605078
HP:0002145HP:0030219Semantic dementia1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM121411571605078
HP:0002145HP:0030219Semantic dementia1TBK1 CL E G H29110275872ORPHA126911584604834
HP:0002145HP:0030219Semantic dementia1TBK1 CL E G H29110275872ORPHA120611584604834
HP:0002145HP:0030219Semantic dementia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM126911584604834
HP:0002145HP:0030219Semantic dementia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM120611584604834
HP:0002145HP:0030219Semantic dementia1TMEM106B CL E G H54664100070ORPHA17422407613413
HP:0002145HP:0030219Semantic dementia1TMEM106B CL E G H54664275864ORPHA17422407613413
HP:0002145HP:0030219Semantic dementia1TMEM106B CL E G H54664100070ORPHA16222407613413
HP:0002145HP:0030219Semantic dementia1TMEM106B CL E G H54664275864ORPHA16222407613413
HP:0002145HP:0030219Semantic dementia1TREM2 CL E G H54209100070ORPHA19417761605086
HP:0002145HP:0030219Semantic dementia1TREM2 CL E G H54209275864ORPHA19417761605086
HP:0002145HP:0030219Semantic dementia1TREM2 CL E G H54209100070ORPHA16417761605086
HP:0002145HP:0030219Semantic dementia1TREM2 CL E G H54209275864ORPHA16417761605086
HP:0002145HP:0030219Semantic dementia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM121712509300264
HP:0002145HP:0030219Semantic dementia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM120012509300264
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415275864ORPHA139512666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415275872ORPHA139512666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415100070ORPHA139512666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H741552430ORPHA139512666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415275872ORPHA135612666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415100070ORPHA135612666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H741552430ORPHA135612666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415275864ORPHA135612666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM013024537609512
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM011024537609512
HP:0002145HP:0002145Frontotemporal dementia0TUBA4A CL E G H7277616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia616208C4015512OMIM06812407191110
HP:0002145HP:0002145Frontotemporal dementia0TUBA4A CL E G H7277616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia616208C4015512OMIM06512407191110
HP:0002145HP:0002145Frontotemporal dementia0ZFYVE26 CL E G H23503100996ORPHA0145720761612012
HP:0002145HP:0002145Frontotemporal dementia0ZFYVE26 CL E G H23503100996ORPHA0126420761612012
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM013024537609512
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM011024537609512
HP:0002145HP:0030219Semantic dementia1TUBA4A CL E G H7277616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia616208C4015512OMIM06812407191110
HP:0002145HP:0030219Semantic dementia1TUBA4A CL E G H7277616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia616208C4015512OMIM06512407191110
HP:0002145HP:0030219Semantic dementia1ZFYVE26 CL E G H23503100996ORPHA0145720761612012
HP:0002145HP:0030219Semantic dementia1ZFYVE26 CL E G H23503100996ORPHA0126420761612012


Genes (27) :ABCA7 APP C9ORF72 C9orf72 CHCHD10 CHMP2B DCTN1 FUS GRN HNRNPA1 HNRNPA2B1 MAPT PLA2G6 PRKAR1B PSEN1 PSEN2 SORL1 SQSTM1 TARDBP TBK1 TMEM106B TOMM40 TREM2 TUBA4A UBQLN2 VCP ZFYVE26

Diseases (24) :275864 275872 100070 105550 615911 614696 600795 168605 607485 52430 615422 600274 172700 199351 612953 412066 616437 612069 616439 616208 300857 167320 100996 1020
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.