Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Abnormal emotion/affect behavior (HP:0100851)help
..Starting node
..expand
Diminished motivation (HP:0000745)help
Term ID: 745
Name: Diminished motivation
Synonym: Diminished motivation; Lack of initiative; Lack of motivation; Lacking in initiative; Lacks initiative
Definition: A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.
Comments:
Reference: HP:0000745
Genes and Diseases:
 
       Child Nodes:
........expandApathy (HP:0000741) help
........expandAbulia (HP:0012671) help
........expandAkinetic mutism (HP:0012672) help
........expandInertia (HP:0030216) help

 Sister Nodes: 
..expandAbnormal aggressive, impulsive or violent behavior (HP:0006919) help
..expandConspicuously happy disposition (HP:0100024) help
..expandEmotional blunting (HP:0030213) help
..expandEuphoria (HP:0031844) help
..expandHappy demeanor (HP:0040082) help
..expandIrritability (HP:0000737) help
..expandobsolete Mood changes (HP:0001575) help
..expandobsolete Mood swings (HP:0000720) help
..expandSuicidal ideation (HP:0031589) help
..expandUnhappy demeanor (HP:0031588) 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:0000745HP:0000745Diminished motivation0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0000745HP:0000745Diminished motivation0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiency62
HP:0000745HP:0000745Diminished motivation0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0000745HP:0000745Diminished motivation0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0000745HP:0000745Diminished motivation0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0000745HP:0000745Diminished motivation0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0000745HP:0000745Diminished motivation0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 156
HP:0000745HP:0000745Diminished motivation0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementia56
HP:0000745HP:0000745Diminished motivation0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0000745HP:0000745Diminished motivation0C9ORF72 CL E G H20322828337ORPHA:100069Semantic dementia56
HP:0000745HP:0000745Diminished motivation0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancy449
HP:0000745HP:0000745Diminished motivation0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0000745HP:0000745Diminished motivation0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0000745HP:0000745Diminished motivation0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0000745HP:0000745Diminished motivation0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0000745HP:0000745Diminished motivation0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0000745HP:0000745Diminished motivation0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementia42
HP:0000745HP:0000745Diminished motivation0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0000745HP:0000745Diminished motivation0CHMP2B CL E G H2597824537ORPHA:100069Semantic dementia42
HP:0000745HP:0000745Diminished motivation0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0000745HP:0000745Diminished motivation0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0000745HP:0000745Diminished motivation0CP CL E G H13562295ORPHA:48818Aceruloplasminemia115
HP:0000745HP:0000745Diminished motivation0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0000745HP:0000745Diminished motivation0DCTN1 CL E G H16392711ORPHA:178509Perry syndrome86
HP:0000745HP:0000745Diminished motivation0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutation145
HP:0000745HP:0000745Diminished motivation0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0000745HP:0000745Diminished motivation0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0000745HP:0000745Diminished motivation0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0000745HP:0000745Diminished motivation0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0000745HP:0000745Diminished motivation0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0000745HP:0000745Diminished motivation0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0000745HP:0000745Diminished motivation0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0000745HP:0000745Diminished motivation0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0000745HP:0000745Diminished motivation0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0000745HP:0000745Diminished motivation0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0000745HP:0000745Diminished motivation0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE145
HP:0000745HP:0000745Diminished motivation0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000745HP:0000745Diminished motivation0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0000745HP:0000745Diminished motivation0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0000745HP:0000745Diminished motivation0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0000745HP:0000745Diminished motivation0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0000745HP:0000745Diminished motivation0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0000745HP:0000745Diminished motivation0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0000745HP:0000745Diminished motivation0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0000745HP:0000745Diminished motivation0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0000745HP:0000745Diminished motivation0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0000745HP:0000745Diminished motivation0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0000745HP:0000745Diminished motivation0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0000745HP:0000745Diminished motivation0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0000745HP:0000745Diminished motivation0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0000745HP:0000745Diminished motivation0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0000745HP:0000745Diminished motivation0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0000745HP:0000745Diminished motivation0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0000745HP:0000745Diminished motivation0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0000745HP:0000745Diminished motivation0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0000745HP:0000745Diminished motivation0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0000745HP:0000745Diminished motivation0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0000745HP:0000745Diminished motivation0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0000745HP:0000745Diminished motivation0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0000745HP:0000745Diminished motivation0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0000745HP:0000745Diminished motivation0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0000745HP:0000745Diminished motivation0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0000745HP:0000745Diminished motivation0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0000745HP:0000745Diminished motivation0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant69
HP:0000745HP:0000745Diminished motivation0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementia126
HP:0000745HP:0000745Diminished motivation0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions126
HP:0000745HP:0000745Diminished motivation0GRN CL E G H28964601ORPHA:100069Semantic dementia126
HP:0000745HP:0000745Diminished motivation0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0000745HP:0000745Diminished motivation0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0000745HP:0000745Diminished motivation0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0000745HP:0000745Diminished motivation0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0000745HP:0000745Diminished motivation0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000745HP:0000745Diminished motivation0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0000745HP:0000745Diminished motivation0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0000745HP:0000745Diminished motivation0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 22
HP:0000745HP:0000745Diminished motivation0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0000745HP:0000745Diminished motivation0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0000745HP:0000745Diminished motivation0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementia140
HP:0000745HP:0000745Diminished motivation0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0000745HP:0000745Diminished motivation0MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0000745HP:0000745Diminished motivation0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0000745HP:0000745Diminished motivation0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0000745HP:0000745Diminished motivation0MAPT CL E G H41376893ORPHA:100069Semantic dementia140
HP:0000745HP:0000745Diminished motivation0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0000745HP:0000745Diminished motivation0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0000745HP:0000745Diminished motivation0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0000745HP:0000745Diminished motivation0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0000745HP:0000745Diminished motivation0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0000745HP:0000745Diminished motivation0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0000745HP:0000745Diminished motivation0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy144
HP:0000745HP:0000745Diminished motivation0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0000745HP:0000745Diminished motivation0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0000745HP:0000745Diminished motivation0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 59
HP:0000745HP:0000745Diminished motivation0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0000745HP:0000745Diminished motivation0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0000745HP:0000745Diminished motivation0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0000745HP:0000745Diminished motivation0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0000745HP:0000745Diminished motivation0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filaments2
HP:0000745HP:0000745Diminished motivation0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0000745HP:0000745Diminished motivation0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease69
HP:0000745HP:0000745Diminished motivation0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0000745HP:0000745Diminished motivation0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementia241
HP:0000745HP:0000745Diminished motivation0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0000745HP:0000745Diminished motivation0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0000745HP:0000745Diminished motivation0PSEN1 CL E G H56639508ORPHA:100069Semantic dementia241
HP:0000745HP:0000745Diminished motivation0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0000745HP:0000745Diminished motivation0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0000745HP:0000745Diminished motivation0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0000745HP:0000745Diminished motivation0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0000745HP:0000745Diminished motivation0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0000745HP:0000745Diminished motivation0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0000745HP:0000745Diminished motivation0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0000745HP:0000745Diminished motivation0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0000745HP:0000745Diminished motivation0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0000745HP:0000745Diminished motivation0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0000745HP:0000745Diminished motivation0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000745HP:0000745Diminished motivation0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0000745HP:0000745Diminished motivation0SLC2A3 CL E G H651511007ORPHA:399Huntington disease1
HP:0000745HP:0000745Diminished motivation0SMARCB1 CL E G H659811103ORPHA:99966Atypical teratoid rhabdoid tumor87
HP:0000745HP:0000745Diminished motivation0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0000745HP:0000745Diminished motivation0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0000745HP:0000745Diminished motivation0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson disease65
HP:0000745HP:0000745Diminished motivation0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant208
HP:0000745HP:0000745Diminished motivation0SPG21 CL E G H5132420373OMIM:248900Mast syndrome28
HP:0000745HP:0000745Diminished motivation0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementia62
HP:0000745HP:0000745Diminished motivation0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 362
HP:0000745HP:0000745Diminished motivation0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron disease62
HP:0000745HP:0000745Diminished motivation0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0000745HP:0000745Diminished motivation0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0000745HP:0000745Diminished motivation0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0000745HP:0000745Diminished motivation0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0000745HP:0000745Diminished motivation0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0000745HP:0000745Diminished motivation0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0000745HP:0000745Diminished motivation0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson disease9
HP:0000745HP:0000745Diminished motivation0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia65
HP:0000745HP:0000745Diminished motivation0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron disease65
HP:0000745HP:0000745Diminished motivation0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 420
HP:0000745HP:0000745Diminished motivation0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron disease20
HP:0000745HP:0000745Diminished motivation0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0000745HP:0000745Diminished motivation0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0000745HP:0000745Diminished motivation0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0000745HP:0000745Diminished motivation0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0000745HP:0000745Diminished motivation0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0000745HP:0000745Diminished motivation0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0000745HP:0000745Diminished motivation0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000745HP:0000745Diminished motivation0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0000745HP:0000745Diminished motivation0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementia
HP:0000745HP:0000745Diminished motivation0TMEM106B CL E G H5466422407ORPHA:100069Semantic dementia
HP:0000745HP:0000745Diminished motivation0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000745HP:0000745Diminished motivation0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementia31
HP:0000745HP:0000745Diminished motivation0TREM2 CL E G H5420917761ORPHA:100069Semantic dementia31
HP:0000745HP:0000745Diminished motivation0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations56
HP:0000745HP:0000745Diminished motivation0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson disease21
HP:0000745HP:0000745Diminished motivation0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementia63
HP:0000745HP:0000745Diminished motivation0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron disease63
HP:0000745HP:0000745Diminished motivation0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0000745HP:0000745Diminished motivation0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson disease8
HP:0000745HP:0000745Diminished motivation0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0000745HP:0000745Diminished motivation0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0000745HP:0000745Diminished motivation0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0000745HP:0000745Diminished motivation0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0000745HP:0000745Diminished motivation0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0000745HP:0000741Apathy1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040282 - Frequent91
HP:0000745HP:0000741Apathy1ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0000745HP:0000741Apathy1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0000745HP:0030216Inertia1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0000745HP:0000741Apathy1ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040283 - Occasional9
HP:0000745HP:0000741Apathy1BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040284 - Very rare
HP:0000745HP:0000741Apathy1C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0000745HP:0000741Apathy1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional56
HP:0000745HP:0012671Abulia1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional56
HP:0000745HP:0000741Apathy1C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0000745HP:0012671Abulia1C9ORF72 CL E G H20322828337ORPHA:100069Semantic dementiaHP:0040282 - Frequent56
HP:0000745HP:0000741Apathy1CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040282 - Frequent449
HP:0000745HP:0000741Apathy1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000745HP:0000741Apathy1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0000745HP:0000741Apathy1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000745HP:0000741Apathy1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000745HP:0000741Apathy1CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0000745HP:0012671Abulia1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional42
HP:0000745HP:0000741Apathy1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional42
HP:0000745HP:0000741Apathy1CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0000745HP:0012671Abulia1CHMP2B CL E G H2597824537ORPHA:100069Semantic dementiaHP:0040282 - Frequent42
HP:0000745HP:0000741Apathy1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040283 - Occasional54
HP:0000745HP:0000741Apathy1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0000745HP:0000741Apathy1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0000745HP:0000741Apathy1DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040281 - Very frequent86
HP:0000745HP:0000741Apathy1DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0000745HP:0012672Akinetic mutism1DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040282 - Frequent145
HP:0000745HP:0000741Apathy1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000745HP:0000741Apathy1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0000745HP:0000741Apathy1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000745HP:0000741Apathy1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000745HP:0000741Apathy1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000745HP:0000741Apathy1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0000745HP:0000741Apathy1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000745HP:0000741Apathy1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000745HP:0000741Apathy1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0000745HP:0000741Apathy1DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent6
HP:0000745HP:0000741Apathy1DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE.145
HP:0000745HP:0000741Apathy1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000745HP:0000741Apathy1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0000745HP:0000741Apathy1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0000745HP:0000741Apathy1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000745HP:0000741Apathy1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0000745HP:0000741Apathy1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000745HP:0000741Apathy1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000745HP:0000741Apathy1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0000745HP:0000741Apathy1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000745HP:0030216Inertia1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040281 - Very frequent30
HP:0000745HP:0000741Apathy1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000745HP:0000741Apathy1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0000745HP:0000741Apathy1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000745HP:0000741Apathy1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000745HP:0000741Apathy1FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0000745HP:0000741Apathy1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000745HP:0000741Apathy1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0000745HP:0000741Apathy1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000745HP:0000741Apathy1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000745HP:0000741Apathy1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000745HP:0000741Apathy1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0000745HP:0000741Apathy1GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0000745HP:0000741Apathy1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0000745HP:0000741Apathy1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000745HP:0000741Apathy1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0000745HP:0000741Apathy1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000745HP:0000741Apathy1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000745HP:0000741Apathy1GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0000745HP:0012671Abulia1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional126
HP:0000745HP:0000741Apathy1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional126
HP:0000745HP:0000741Apathy1GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0000745HP:0012671Abulia1GRN CL E G H28964601ORPHA:100069Semantic dementiaHP:0040282 - Frequent126
HP:0000745HP:0000741Apathy1HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040284 - Very rare38
HP:0000745HP:0000741Apathy1HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0000745HP:0000741Apathy1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040282 - Frequent35
HP:0000745HP:0000741Apathy1HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0000745HP:0000741Apathy1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000745HP:0012671Abulia1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000745HP:0012672Akinetic mutism1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000745HP:0000741Apathy1HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent39
HP:0000745HP:0000741Apathy1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0000745HP:0000741Apathy1JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0000745HP:0000741Apathy1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0000745HP:0000741Apathy1LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0000745HP:0012671Abulia1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional140
HP:0000745HP:0000741Apathy1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional140
HP:0000745HP:0000741Apathy1MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0000745HP:0000741Apathy1MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0000745HP:0000741Apathy1MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040283 - Occasional140
HP:0000745HP:0000741Apathy1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040282 - Frequent140
HP:0000745HP:0012671Abulia1MAPT CL E G H41376893ORPHA:100069Semantic dementiaHP:0040282 - Frequent140
HP:0000745HP:0000741Apathy1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0000745HP:0000741Apathy1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000745HP:0000741Apathy1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0000745HP:0000741Apathy1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000745HP:0000741Apathy1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000745HP:0012671Abulia1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0000745HP:0000741Apathy1NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040282 - Frequent144
HP:0000745HP:0030216Inertia1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0000745HP:0000741Apathy1PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent23
HP:0000745HP:0000741Apathy1PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0000745HP:0000741Apathy1PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent55
HP:0000745HP:0000741Apathy1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000745HP:0000741Apathy1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0000745HP:0000741Apathy1PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent6
HP:0000745HP:0030216Inertia1PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0000745HP:0000741Apathy1PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0000745HP:0000741Apathy1PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent138
HP:0000745HP:0000741Apathy1PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0000745HP:0012672Akinetic mutism1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0000745HP:0000741Apathy1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0000745HP:0012671Abulia1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional241
HP:0000745HP:0000741Apathy1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional241
HP:0000745HP:0000741Apathy1PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0000745HP:0000741Apathy1PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0000745HP:0012671Abulia1PSEN1 CL E G H56639508ORPHA:100069Semantic dementiaHP:0040282 - Frequent241
HP:0000745HP:0000741Apathy1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000745HP:0000741Apathy1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0000745HP:0000741Apathy1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000745HP:0000741Apathy1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000745HP:0000741Apathy1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000745HP:0000741Apathy1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0000745HP:0000741Apathy1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000745HP:0000741Apathy1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000745HP:0000741Apathy1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000745HP:0000741Apathy1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0000745HP:0000741Apathy1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000745HP:0000741Apathy1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000745HP:0000741Apathy1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0000745HP:0000741Apathy1SMARCB1 CL E G H659811103ORPHA:99966Atypical teratoid rhabdoid tumorHP:0040281 - Very frequent87
HP:0000745HP:0000741Apathy1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000745HP:0000741Apathy1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0000745HP:0000741Apathy1SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0000745HP:0000741Apathy1SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0000745HP:0012672Akinetic mutism1SPG21 CL E G H5132420373OMIM:248900Mast syndromeHP:0040283 - Occasional28
HP:0000745HP:0000741Apathy1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional62
HP:0000745HP:0012671Abulia1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional62
HP:0000745HP:0000741Apathy1SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0000745HP:0000741Apathy1SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0000745HP:0000741Apathy1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000745HP:0000741Apathy1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000745HP:0000741Apathy1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000745HP:0000741Apathy1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0000745HP:0000741Apathy1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000745HP:0000741Apathy1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000745HP:0000741Apathy1SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent9
HP:0000745HP:0000741Apathy1TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0000745HP:0000741Apathy1TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0000745HP:0000741Apathy1TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0000745HP:0000741Apathy1TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0000745HP:0000741Apathy1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000745HP:0000741Apathy1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0000745HP:0000741Apathy1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000745HP:0000741Apathy1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000745HP:0000741Apathy1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000745HP:0000741Apathy1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0000745HP:0000741Apathy1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000745HP:0000741Apathy1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000745HP:0012671Abulia1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional
HP:0000745HP:0000741Apathy1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional
HP:0000745HP:0012671Abulia1TMEM106B CL E G H5466422407ORPHA:100069Semantic dementiaHP:0040282 - Frequent
HP:0000745HP:0000741Apathy1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0000745HP:0000741Apathy1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional31
HP:0000745HP:0012671Abulia1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional31
HP:0000745HP:0012671Abulia1TREM2 CL E G H5420917761ORPHA:100069Semantic dementiaHP:0040282 - Frequent31
HP:0000745HP:0000741Apathy1TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0000745HP:0000741Apathy1UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent21
HP:0000745HP:0000741Apathy1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional63
HP:0000745HP:0012671Abulia1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional63
HP:0000745HP:0000741Apathy1VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0000745HP:0000741Apathy1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0000745HP:0000741Apathy1VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0000745HP:0000741Apathy1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0000745HP:0000741Apathy1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000745HP:0000741Apathy1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0000745HP:0000741Apathy1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000745HP:0000741Apathy1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34


Genes (83) :ACAT1 ALAD ATP13A2 ATXN1 ATXN10 BMP6 C9ORF72 CACNA1A CDON CHCHD10 CHMP2B COQ2 CP DCTN1 DCX DISP1 DLL1 DNAJC13 DNAJC6 DNMT1 EHMT1 EIF4G1 FGF8 FGFR1 FMR1 FOXH1 FUS GAS1 GBA1 GFAP GIGYF2 GLI2 GM2A GRN HFE HLA-DQB1 HMGCL HTRA1 HTRA2 HTT JPH3 LRRK2 MAPT NODAL NOTCH3 PANK2 PARK7 PDGFB PINK1 PLCH1 PLP1 PODXL PRKAR1B PRKN PRNP PSEN1 PTCH1 SHH SIX3 SLC2A3 SMARCB1 SMC1A SNCA SPAST SPG21 SQSTM1 STAG2 STIL SYNJ1 TARDBP TBK1 TDGF1 TGIF1 TMEM106B TMEM240 TREM2 TREX1 UCHL1 VCP VPS13A VPS13C VPS35 ZIC2

Diseases (59) :ORPHA:134 ORPHA:100924 ORPHA:306674 ORPHA:98755 ORPHA:98761 ORPHA:465508 OMIM:105550 ORPHA:275864 ORPHA:275872 ORPHA:100069 ORPHA:71518 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:600795 ORPHA:227510 ORPHA:98933 ORPHA:48818 OMIM:168605 ORPHA:178509 ORPHA:2148 ORPHA:411602 ORPHA:2828 OMIM:614116 OMIM:610253 ORPHA:96147 ORPHA:93256 OMIM:608013 OMIM:203450 OMIM:272750 OMIM:607485 OMIM:123400 ORPHA:20 OMIM:246450 ORPHA:199354 ORPHA:399 OMIM:606438 OMIM:600274 OMIM:172700 ORPHA:240085 ORPHA:240112 OMIM:601104 OMIM:125310 ORPHA:136 ORPHA:216873 OMIM:615483 OMIM:312080 ORPHA:412066 ORPHA:282166 ORPHA:99966 OMIM:182601 OMIM:248900 OMIM:616437 OMIM:612069 OMIM:616439 OMIM:607454 ORPHA:247691 ORPHA:2388
 

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