Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Gait disturbance (HP:0001288)help
..Starting node
..expand
Gait imbalance (HP:0002141)help
Term ID: 2141
Name: Gait imbalance
Synonym: Abnormality of balance; Abnormality of equilibrium; Imbalanced walk
Definition:
Comments:
Reference: HP:0002141
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
..expandFalls (HP:0002527) help
..expandFreezing of gait (HP:0031825) help
..expandGait apraxia (HP:0010521) help
..expandGait ataxia (HP:0002066) 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:0002141HP:0002141Gait imbalance0ALS2 CL E G H57679247604ORPHA1644443606352
HP:0002141HP:0002141Gait imbalance0ALS2 CL E G H57679247604ORPHA1524443606352
HP:0002141HP:0002141Gait imbalance0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0002141HP:0002141Gait imbalance0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0002141HP:0002141Gait imbalance0ATXN10 CL E G H2581498761ORPHA19910549611150
HP:0002141HP:0002141Gait imbalance0ATXN10 CL E G H2581498761ORPHA110110549611150
HP:0002141HP:0002141Gait imbalance0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0002141HP:0002141Gait imbalance0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0002141HP:0002141Gait imbalance0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0002141HP:0002141Gait imbalance0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0002141HP:0002141Gait imbalance0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM12171919603277
HP:0002141HP:0002141Gait imbalance0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM11901919603277
HP:0002141HP:0002141Gait imbalance0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0002141HP:0002141Gait imbalance0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0002141HP:0002141Gait imbalance0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0002141HP:0002141Gait imbalance0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0002141HP:0002141Gait imbalance0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0002141HP:0002141Gait imbalance0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0002141HP:0002141Gait imbalance0ERLIN2 CL E G H11160247604ORPHA11381356611605
HP:0002141HP:0002141Gait imbalance0ERLIN2 CL E G H11160247604ORPHA11471356611605
HP:0002141HP:0002141Gait imbalance0FXN CL E G H239595ORPHA11313951606829
HP:0002141HP:0002141Gait imbalance0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0002141HP:0002141Gait imbalance0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0002141HP:0002141Gait imbalance0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0002141HP:0002141Gait imbalance0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0002141HP:0002141Gait imbalance0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0002141HP:0002141Gait imbalance0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0002141HP:0002141Gait imbalance0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14656893157140
HP:0002141HP:0002141Gait imbalance0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14886893157140
HP:0002141HP:0002141Gait imbalance0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0002141HP:0002141Gait imbalance0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0002141HP:0002141Gait imbalance0PIK3R5 CL E G H2353364753ORPHA14830035611317
HP:0002141HP:0002141Gait imbalance0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11759970600404
HP:0002141HP:0002141Gait imbalance0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11749970600404
HP:0002141HP:0002141Gait imbalance0SETX CL E G H2306464753ORPHA1941445608465
HP:0002141HP:0002141Gait imbalance0SETX CL E G H2306464753ORPHA11087445608465
HP:0002141HP:0002141Gait imbalance0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116211586605842
HP:0002141HP:0002141Gait imbalance0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116111586605842
HP:0002141HP:0002141Gait imbalance0TTBK2 CL E G H14605798767ORPHA121019141611695
HP:0002141HP:0002141Gait imbalance0TTBK2 CL E G H14605798767ORPHA120719141611695
HP:0002141HP:0002141Gait imbalance0VCP CL E G H7415435387ORPHA139512666601023
HP:0002141HP:0002141Gait imbalance0VCP CL E G H7415435387ORPHA135612666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002141HP:0002141Gait imbalance0ATXN1 CL E G H631098755ORPHA07810548601556
HP:0002141HP:0002141Gait imbalance0ATXN1 CL E G H631098755ORPHA07610548601556
HP:0002141HP:0002141Gait imbalance0PMP22 CL E G H5376101081ORPHA03909118601097
HP:0002141HP:0002141Gait imbalance0PMP22 CL E G H5376101081ORPHA04199118601097
HP:0002141HP:0002141Gait imbalance0RNASEH1 CL E G H246243329336ORPHA09518466604123
HP:0002141HP:0002141Gait imbalance0RNASEH1 CL E G H246243329336ORPHA08618466604123
HP:0002141HP:0002141Gait imbalance0RRM2B CL E G H50484329336ORPHA026117296604712
HP:0002141HP:0002141Gait imbalance0RRM2B CL E G H50484329336ORPHA027217296604712
HP:0002141HP:0002141Gait imbalance0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM032111535313650
HP:0002141HP:0002141Gait imbalance0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM030211535313650


Genes (26) :ALS2 ATP5F1D ATXN1 ATXN10 BAZ1B BBS1 CHD4 CLIP2 ELN ERLIN2 FXN GTF2I GTF2IRD1 LIMK1 MAPT MLXIPL PIK3R5 PMP22 RFC2 RNASEH1 RRM2B SETX TAF1 TBL2 TTBK2 VCP

Diseases (16) :247604 618120 98755 98761 904 209900 617159 194050 95 601104 64753 101081 329336 300966 98767 435387
 

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