Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Gait disturbance (HP:0001288)help
..Starting node
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Falls (HP:0002527)help
Term ID: 2527
Name: Falls
Synonym: Falls
Definition:
Comments:
Reference: HP:0002527
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad-based gait (HP:0002136) help
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandCock-walk gait (HP:0031848) help
..expandDifficulty walking (HP:0002355) help
..expandDifficulty walking backward (HP:0031847) help
..expandFreezing of gait (HP:0031825) help
..expandGait apraxia (HP:0010521) help
..expandGait ataxia (HP:0002066) help
..expandGait imbalance (HP:0002141) help
..expandHobby horse gait (HP:0031856) help
..expandImpaired tandem gait (HP:0031629) help
..expandInability to walk (HP:0002540) help
..expandobsolete Toe walking (HP:0040083) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandTip-toe gait (HP:0030051) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) 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:0002527HP:0002527Falls0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0002527HP:0002527Falls0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0002527HP:0002527Falls0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002527HP:0002527Falls0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002527HP:0002527Falls0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent449
HP:0002527HP:0002527Falls0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0002527HP:0002527Falls0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent227
HP:0002527HP:0002527Falls0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent
HP:0002527HP:0002527Falls0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040281 - Very frequent4
HP:0002527HP:0002527Falls0DMD CL E G H17562928ORPHA:98895Becker muscular dystrophyHP:0040282 - Frequent1496
HP:0002527HP:0002527Falls0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent72
HP:0002527HP:0002527Falls0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040281 - Very frequent76
HP:0002527HP:0002527Falls0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0002527HP:0002527Falls0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040282 - Frequent18
HP:0002527HP:0002527Falls0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent57
HP:0002527HP:0002527Falls0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040283 - Occasional121
HP:0002527HP:0002527Falls0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002527HP:0002527Falls0LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 14.62
HP:0002527HP:0002527Falls0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent61
HP:0002527HP:0002527Falls0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040281 - Very frequent140
HP:0002527HP:0002527Falls0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040282 - Frequent140
HP:0002527HP:0002527Falls0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0002527HP:0002527Falls0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040283 - Occasional140
HP:0002527HP:0002527Falls0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0002527HP:0002527Falls0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0002527HP:0002527Falls0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0002527HP:0002527Falls0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0002527HP:0002527Falls0NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical.1
HP:0002527HP:0002527Falls0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002527HP:0002527Falls0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0002527HP:0002527Falls0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002527HP:0002527Falls0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0002527HP:0002527Falls0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0002527HP:0002527Falls0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002527HP:0002527Falls0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0002527HP:0002527Falls0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0002527HP:0002527Falls0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent1053
HP:0002527HP:0002527Falls0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0002527HP:0002527Falls0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0002527HP:0002527Falls0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002527HP:0002527Falls0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002527HP:0002527Falls0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040284 - Very rare7128
HP:0002527HP:0002527Falls0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130


Genes (39) :ACBD5 ALDH18A1 ATP13A2 ATP6AP2 CACNA1A CERS1 CHD2 CUX2 DAB1 DMD DNM1 FA2H FAR1 FXN GABRB3 GAN GNB2 LRAT MAPK10 MAPT MYH7 NDUFS8 NKX2-1 NOL3 OGDH ORAI1 PDE2A POPDC3 PRKAR1B PTS RAPSN SACS SCN1A SDHB SET SLC25A21 SPTBN1 TTN VPS13A

Diseases (36) :OMIM:618863 ORPHA:447753 OMIM:617225 OMIM:300423 ORPHA:2382 OMIM:616230 ORPHA:363710 ORPHA:98895 ORPHA:329308 ORPHA:95 ORPHA:643 OMIM:619503 OMIM:613341 ORPHA:240071 ORPHA:240085 ORPHA:240112 ORPHA:240094 OMIM:601104 OMIM:608358 OMIM:618222 ORPHA:209905 OMIM:614937 OMIM:203740 OMIM:615883 OMIM:619150 OMIM:618848 ORPHA:412066 ORPHA:13 OMIM:616326 OMIM:270550 OMIM:619224 OMIM:618106 OMIM:618811 OMIM:619475 ORPHA:178464 ORPHA:2388
 

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