Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of coordination (HP:0011443)help
Parent Node:
expand
Functional motor deficit (HP:0004302)help
Parent Node:
expand
Incoordination (HP:0002311)help
..Starting node
..expand
Frequent falls (HP:0002359)help
Term ID: 2359
Name: Frequent falls
Synonym: Frequent falls
Definition:
Comments:
Reference: HP:0002359
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClumsiness (HP:0002312) help
..expandPoor coordination (HP:0002370) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002359HP:0002359Frequent falls0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0002359HP:0002359Frequent falls0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM110428287612866
HP:0002359HP:0002359Frequent falls0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM144682607560
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309256ORPHA1953713607574
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309271ORPHA1953713607574
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309263ORPHA1953713607574
HP:0002359HP:0002359Frequent falls0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0002359HP:0002359Frequent falls0ATP2B3 CL E G H492314978ORPHA1301816300014
HP:0002359HP:0002359Frequent falls0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0002359HP:0002359Frequent falls0C19orf12 CL E G H83636289560ORPHA127625443614297
HP:0002359HP:0002359Frequent falls0COL12A1 CL E G H130375840ORPHA119442188120320
HP:0002359HP:0002359Frequent falls0COL6A1 CL E G H129175840ORPHA114702211120220
HP:0002359HP:0002359Frequent falls0COL6A2 CL E G H129275840ORPHA116442212120240
HP:0002359HP:0002359Frequent falls0COL6A3 CL E G H129375840ORPHA124142213120250
HP:0002359HP:0002359Frequent falls0COQ2 CL E G H27235227510ORPHA120525223609825
HP:0002359HP:0002359Frequent falls0COQ2 CL E G H2723598933ORPHA120525223609825
HP:0002359HP:0002359Frequent falls0CWF19L1 CL E G H55280453521ORPHA16625613616120
HP:0002359HP:0002359Frequent falls0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1822661603448
HP:0002359HP:0002359Frequent falls0DNAJC13 CL E G H23317411602ORPHA116530343614334
HP:0002359HP:0002359Frequent falls0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM129742961600112
HP:0002359HP:0002359Frequent falls0EIF4G1 CL E G H1981411602ORPHA1943296600495
HP:0002359HP:0002359Frequent falls0FA2H CL E G H79152171629ORPHA131221197611026
HP:0002359HP:0002359Frequent falls0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0002359HP:0002359Frequent falls0FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147370980ORPHA178717997606596
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002359HP:0002359Frequent falls0FKTN CL E G H2218370980ORPHA17833622607440
HP:0002359HP:0002359Frequent falls0GBA CL E G H2629411602ORPHA14177606463
HP:0002359HP:0002359Frequent falls0GIGYF2 CL E G H26058411602ORPHA125511960612003
HP:0002359HP:0002359Frequent falls0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17974283304040
HP:0002359HP:0002359Frequent falls0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13814326138491
HP:0002359HP:0002359Frequent falls0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM198215465603930
HP:0002359HP:0002359Frequent falls0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12164593604473
HP:0002359HP:0002359Frequent falls0HINT1 CL E G H3094324442ORPHA11304912601314
HP:0002359HP:0002359Frequent falls0ISPD CL E G H729920370980ORPHA164737276614631
HP:0002359HP:0002359Frequent falls0KIF1C CL E G H10749397946ORPHA13666317603060
HP:0002359HP:0002359Frequent falls0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13666317603060
HP:0002359HP:0002359Frequent falls0LRRK2 CL E G H120892411602ORPHA1222618618609007
HP:0002359HP:0002359Frequent falls0MFN2 CL E G H992799947ORPHA1106316877608507
HP:0002359HP:0002359Frequent falls0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0002359HP:0002359Frequent falls0MTPAP CL E G H55149254343ORPHA119925532613669
HP:0002359HP:0002359Frequent falls0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0002359HP:0002359Frequent falls0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM14657737162230
HP:0002359HP:0002359Frequent falls0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1437869605235
HP:0002359HP:0002359Frequent falls0PANK2 CL E G H80025216866ORPHA137115894606157
HP:0002359HP:0002359Frequent falls0PDE10A CL E G H10846494526ORPHA11618772610652
HP:0002359HP:0002359Frequent falls0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0002359HP:0002359Frequent falls0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0002359HP:0002359Frequent falls0PLEC CL E G H5339254361ORPHA141529069601282
HP:0002359HP:0002359Frequent falls0PMP2 CL E G H5375618279618279618279OMIM1969117170715
HP:0002359HP:0002359Frequent falls0POMT1 CL E G H10585370980ORPHA17379202607423
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309263ORPHA15989498176801
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309256ORPHA15989498176801
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309271ORPHA15989498176801
HP:0002359HP:0002359Frequent falls0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0002359HP:0002359Frequent falls0RNU12 CL E G H267010512260ORPHA111193800
HP:0002359HP:0002359Frequent falls0SCO2 CL E G H9997521411ORPHA151410604604272
HP:0002359HP:0002359Frequent falls0SCYL1 CL E G H57410466794ORPHA17314372607982
HP:0002359HP:0002359Frequent falls0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM17314372607982
HP:0002359HP:0002359Frequent falls0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA153710805600119
HP:0002359HP:0002359Frequent falls0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA148410809608896
HP:0002359HP:0002359Frequent falls0SLC25A1 CL E G H6576618197MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC618197OMIM150510979190315
HP:0002359HP:0002359Frequent falls0SNCA CL E G H6622411602ORPHA117711138163890
HP:0002359HP:0002359Frequent falls0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0002359HP:0002359Frequent falls0VCP CL E G H7415329478ORPHA147312666601023
HP:0002359HP:0002359Frequent falls0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0002359HP:0002359Frequent falls0VPS35 CL E G H55737411602ORPHA118413487601501
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002359HP:0002359Frequent falls0ADAR CL E G H103225154ORPHA0818225146920
HP:0002359HP:0002359Frequent falls0ALG14 CL E G H199857353327ORPHA010428287612866
HP:0002359HP:0002359Frequent falls0ALG2 CL E G H85365353327ORPHA026223159607905
HP:0002359HP:0002359Frequent falls0ATL1 CL E G H51062100984ORPHA040811231606439
HP:0002359HP:0002359Frequent falls0COLQ CL E G H829298915ORPHA04652226603033
HP:0002359HP:0002359Frequent falls0DPAGT1 CL E G H1798353327ORPHA02582995191350
HP:0002359HP:0002359Frequent falls0FKRP CL E G H7914734515ORPHA078717997606596
HP:0002359HP:0002359Frequent falls0GFPT1 CL E G H2673353327ORPHA04534241138292
HP:0002359HP:0002359Frequent falls0GMPPB CL E G H29925353327ORPHA027322932615320
HP:0002359HP:0002359Frequent falls0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA06304801600890
HP:0002359HP:0002359Frequent falls0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02634803143450
HP:0002359HP:0002359Frequent falls0LAMB2 CL E G H391398915ORPHA06776487150325
HP:0002359HP:0002359Frequent falls0MRE11 CL E G H4361251347ORPHA017297230600814
HP:0002359HP:0002359Frequent falls0MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0002359HP:0002359Frequent falls0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0002359HP:0002359Frequent falls0MYPN CL E G H84665171881ORPHA0126323246608517
HP:0002359HP:0002359Frequent falls0NUP62 CL E G H23636225154ORPHA0978066605815
HP:0002359HP:0002359Frequent falls0PANK2 CL E G H80025216873ORPHA037115894606157
HP:0002359HP:0002359Frequent falls0POLG CL E G H5428254892ORPHA019179179174763
HP:0002359HP:0002359Frequent falls0POLG2 CL E G H11232254892ORPHA02409180604983
HP:0002359HP:0002359Frequent falls0PRNP CL E G H5621157941ORPHA01649449176640
HP:0002359HP:0002359Frequent falls0RRM2B CL E G H50484254892ORPHA029317296604712
HP:0002359HP:0002359Frequent falls0SDHA CL E G H63893208ORPHA0218610680600857
HP:0002359HP:0002359Frequent falls0SDHAF1 CL E G H6440963208ORPHA06033867612848
HP:0002359HP:0002359Frequent falls0SDHB CL E G H63903208ORPHA0109910681185470
HP:0002359HP:0002359Frequent falls0SDHD CL E G H63923208ORPHA060710683602690
HP:0002359HP:0002359Frequent falls0SLC25A4 CL E G H291254892ORPHA027810990103220
HP:0002359HP:0002359Frequent falls0TAF1 CL E G H687253351ORPHA034511535313650
HP:0002359HP:0002359Frequent falls0TPM2 CL E G H7169171881ORPHA028012011190990
HP:0002359HP:0002359Frequent falls0TPM3 CL E G H7170171881ORPHA030012012191030
HP:0002359HP:0002359Frequent falls0TWNK CL E G H56652254892ORPHA03081160606075


Genes (87) :ACTA1 ADAR ALG14 ALG2 ARHGEF2 ARSA ASAH1 ATL1 ATP2B3 ATP6 B4GALNT1 C19ORF12 C19orf12 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 CRPPA CWF19L1 DAB1 DNAJC13 DPAGT1 DYNC1H1 EIF4G1 FA2H FHL1 FIG4 FKRP FKTN GBA GFPT1 GIGYF2 GJB1 GLRA1 GMPPB GPHN GRM1 HADHA HADHB HINT1 ISPD KIF1C LAMB2 LRRK2 MFN2 MRE11 MTPAP MYPN NEB NEFH NOL3 NUP62 PANK2 PDE10A PIK3R5 PLEC PMP2 POLG POLG2 POMT1 PRNP PSAP PYROXD1 RNU12 RRM2B SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SGCA SGCG SLC25A1 SLC25A4 SNCA STIM1 TAF1 TPM2 TPM3 TRNE TWNK VCP VPS13D VPS35

Diseases (66) :161800 225154 353327 616227 617523 309271 309263 309256 159950 100984 314978 609195 289560 75840 98915 98933 227510 370980 453521 615945 411602 614228 171629 300718 611228 34515 606612 607155 1175 149400 617691 746 324442 397946 611302 99947 251347 604391 254343 171881 256030 616924 614937 216873 216866 494526 616921 615217 254361 618279 254892 157941 617258 512260 521411 466794 616719 3208 62 353 618197 160565 53351 2596 329478 607317
 

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