Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
expand
Gait disturbance (HP:0001288)help
..Starting node
..expand
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
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandTip-toe gait (HP:0030051) help
..expandToe walking (HP:0040083) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002527HP:0002527Falls0CHD2 CL E G H11062382ORPHA113261917602119
HP:0002527HP:0002527Falls0CHD2 CL E G H11062382ORPHA111631917602119
HP:0002527HP:0002527Falls0CUX2 CL E G H233162382ORPHA16819347610648
HP:0002527HP:0002527Falls0CUX2 CL E G H233162382ORPHA17519347610648
HP:0002527HP:0002527Falls0DAB1 CL E G H1600363710ORPHA1812661603448
HP:0002527HP:0002527Falls0DAB1 CL E G H1600363710ORPHA1802661603448
HP:0002527HP:0002527Falls0DMD CL E G H175698895ORPHA163952928300377
HP:0002527HP:0002527Falls0DMD CL E G H175698895ORPHA156012928300377
HP:0002527HP:0002527Falls0DNM1 CL E G H17592382ORPHA15062972602377
HP:0002527HP:0002527Falls0DNM1 CL E G H17592382ORPHA14592972602377
HP:0002527HP:0002527Falls0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM123852961600112
HP:0002527HP:0002527Falls0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM120232961600112
HP:0002527HP:0002527Falls0FXN CL E G H239595ORPHA11313951606829
HP:0002527HP:0002527Falls0GABRB3 CL E G H25622382ORPHA16454083137192
HP:0002527HP:0002527Falls0GABRB3 CL E G H25622382ORPHA16914083137192
HP:0002527HP:0002527Falls0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM12056685604863
HP:0002527HP:0002527Falls0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM11826685604863
HP:0002527HP:0002527Falls0MAPK10 CL E G H56022382ORPHA1646872602897
HP:0002527HP:0002527Falls0MAPK10 CL E G H56022382ORPHA1616872602897
HP:0002527HP:0002527Falls0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14886893157140
HP:0002527HP:0002527Falls0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14656893157140
HP:0002527HP:0002527Falls0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1427869605235
HP:0002527HP:0002527Falls0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1417869605235
HP:0002527HP:0002527Falls0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0002527HP:0002527Falls0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0002527HP:0002527Falls0PRKAR1B CL E G H5575412066ORPHA11449390176911
HP:0002527HP:0002527Falls0PRKAR1B CL E G H5575412066ORPHA11619390176911
HP:0002527HP:0002527Falls0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1208810519604490
HP:0002527HP:0002527Falls0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1191410519604490
HP:0002527HP:0002527Falls0SCN1A CL E G H63232382ORPHA1271310585182389
HP:0002527HP:0002527Falls0SCN1A CL E G H63232382ORPHA1307610585182389
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002527HP:0002527Falls0ALDH18A1 CL E G H5832447753ORPHA03929722138250
HP:0002527HP:0002527Falls0ALDH18A1 CL E G H5832447753ORPHA03469722138250
HP:0002527HP:0002527Falls0GAN CL E G H8139643ORPHA05334137605379
HP:0002527HP:0002527Falls0GAN CL E G H8139643ORPHA05944137605379
HP:0002527HP:0002527Falls0PTS CL E G H580513Brain malformationC0266449ORPHA01859689612719
HP:0002527HP:0002527Falls0PTS CL E G H580513Brain malformationC0266449ORPHA01649689612719
HP:0002527HP:0002527Falls0TTN CL E G H7273178464ORPHA01798412403188840
HP:0002527HP:0002527Falls0TTN CL E G H7273178464ORPHA01902812403188840


Genes (20) :ALDH18A1 CHD2 CUX2 DAB1 DMD DNM1 DYNC1H1 FXN GABRB3 GAN LRAT MAPK10 MAPT NOL3 ORAI1 PRKAR1B PTS SACS SCN1A TTN

Diseases (15) :447753 2382 363710 98895 614228 95 643 613341 601104 614937 615883 412066 13 270550 178464
 

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