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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Toe walking (HP:0040083)help
Term ID: 40083
Name: Toe walking
Synonym: Toe walking; Toe-walking
Definition:
Comments:
Reference: HP:0040083
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
..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
..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:0040083HP:0040083Toe walking0ARSA CL E G H410309256ORPHA1841713607574
HP:0040083HP:0040083Toe walking0ARSA CL E G H410309256ORPHA1732713607574
HP:0040083HP:0040083Toe walking0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0040083HP:0040083Toe walking0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0040083HP:0040083Toe walking0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM150617208609797
HP:0040083HP:0040083Toe walking0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM144517208609797
HP:0040083HP:0040083Toe walking0CAPN3 CL E G H825267ORPHA111421480114240
HP:0040083HP:0040083Toe walking0CAPN3 CL E G H825267ORPHA110471480114240
HP:0040083HP:0040083Toe walking0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM115029932609855
HP:0040083HP:0040083Toe walking0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM110729932609855
HP:0040083HP:0040083Toe walking0CYP2U1 CL E G H113612320411ORPHA117220582610670
HP:0040083HP:0040083Toe walking0CYP2U1 CL E G H113612320411ORPHA112520582610670
HP:0040083HP:0040083Toe walking0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM117220582610670
HP:0040083HP:0040083Toe walking0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM112520582610670
HP:0040083HP:0040083Toe walking0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0040083HP:0040083Toe walking0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0040083HP:0040083Toe walking0EMD CL E G H201098863ORPHA15793331300384
HP:0040083HP:0040083Toe walking0EMD CL E G H201098863ORPHA15303331300384
HP:0040083HP:0040083Toe walking0ERLIN2 CL E G H11160209951ORPHA11471356611605
HP:0040083HP:0040083Toe walking0ERLIN2 CL E G H11160209951ORPHA11381356611605
HP:0040083HP:0040083Toe walking0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM154573603134797
HP:0040083HP:0040083Toe walking0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM149683603134797
HP:0040083HP:0040083Toe walking0FHL1 CL E G H227398863ORPHA14863702300163
HP:0040083HP:0040083Toe walking0FHL1 CL E G H227398863ORPHA14373702300163
HP:0040083HP:0040083Toe walking0FKRP CL E G H79147370980ORPHA167117997606596
HP:0040083HP:0040083Toe walking0FKRP CL E G H79147370980ORPHA157217997606596
HP:0040083HP:0040083Toe walking0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0040083HP:0040083Toe walking0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0040083HP:0040083Toe walking0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0040083HP:0040083Toe walking0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0040083HP:0040083Toe walking0FKTN CL E G H2218370980ORPHA16793622607440
HP:0040083HP:0040083Toe walking0FKTN CL E G H2218370980ORPHA15993622607440
HP:0040083HP:0040083Toe walking0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17714283304040
HP:0040083HP:0040083Toe walking0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17324283304040
HP:0040083HP:0040083Toe walking0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0040083HP:0040083Toe walking0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0040083HP:0040083Toe walking0ISPD CL E G H729920370980ORPHA154937276614631
HP:0040083HP:0040083Toe walking0ISPD CL E G H729920370980ORPHA154537276614631
HP:0040083HP:0040083Toe walking0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM145615840606834
HP:0040083HP:0040083Toe walking0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM138415840606834
HP:0040083HP:0040083Toe walking0KY CL E G H339855496689ORPHA17926576605739
HP:0040083HP:0040083Toe walking0KY CL E G H339855496689ORPHA17826576605739
HP:0040083HP:0040083Toe walking0LMNA CL E G H400098853ORPHA114866636150330
HP:0040083HP:0040083Toe walking0LMNA CL E G H400098855ORPHA114866636150330
HP:0040083HP:0040083Toe walking0LMNA CL E G H400098853ORPHA113476636150330
HP:0040083HP:0040083Toe walking0LMNA CL E G H400098855ORPHA113476636150330
HP:0040083HP:0040083Toe walking0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0040083HP:0040083Toe walking0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0040083HP:0040083Toe walking0PANK2 CL E G H80025216866ORPHA133115894606157
HP:0040083HP:0040083Toe walking0PANK2 CL E G H80025216866ORPHA126315894606157
HP:0040083HP:0040083Toe walking0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM16828900612123
HP:0040083HP:0040083Toe walking0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM15628900612123
HP:0040083HP:0040083Toe walking0POMT1 CL E G H10585370980ORPHA16869202607423
HP:0040083HP:0040083Toe walking0POMT1 CL E G H10585370980ORPHA16099202607423
HP:0040083HP:0040083Toe walking0PSAP CL E G H5660309256ORPHA15029498176801
HP:0040083HP:0040083Toe walking0PSAP CL E G H5660309256ORPHA13909498176801
HP:0040083HP:0040083Toe walking0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0040083HP:0040083Toe walking0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0040083HP:0040083Toe walking0SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0040083HP:0040083Toe walking0SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0040083HP:0040083Toe walking0SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0040083HP:0040083Toe walking0SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0040083HP:0040083Toe walking0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM110511842608439
HP:0040083HP:0040083Toe walking0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM19911842608439
HP:0040083HP:0040083Toe walking0TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0040083HP:0040083Toe walking0TMEM43 CL E G H7918898853ORPHA158528472612048
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040083HP:0040083Toe walking0AGRN CL E G H37579098914ORPHA01579329103320
HP:0040083HP:0040083Toe walking0AGRN CL E G H37579098914ORPHA01309329103320
HP:0040083HP:0040083Toe walking0ALDH18A1 CL E G H5832447760ORPHA03929722138250
HP:0040083HP:0040083Toe walking0ALDH18A1 CL E G H5832447760ORPHA03469722138250
HP:0040083HP:0040083Toe walking0ATL1 CL E G H51062100984ORPHA035611231606439
HP:0040083HP:0040083Toe walking0ATL1 CL E G H51062100984ORPHA031011231606439
HP:0040083HP:0040083Toe walking0CHAT CL E G H110398914ORPHA06521912118490
HP:0040083HP:0040083Toe walking0CHAT CL E G H110398914ORPHA05111912118490
HP:0040083HP:0040083Toe walking0COL13A1 CL E G H130598914ORPHA02942190120350
HP:0040083HP:0040083Toe walking0COL13A1 CL E G H130598914ORPHA01792190120350
HP:0040083HP:0040083Toe walking0DMD CL E G H175698895ORPHA063952928300377
HP:0040083HP:0040083Toe walking0DMD CL E G H175698895ORPHA056012928300377
HP:0040083HP:0040083Toe walking0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA05274801600890
HP:0040083HP:0040083Toe walking0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA04774801600890
HP:0040083HP:0040083Toe walking0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02424803143450
HP:0040083HP:0040083Toe walking0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02134803143450
HP:0040083HP:0040083Toe walking0MYO9A CL E G H464998914ORPHA01687608604875
HP:0040083HP:0040083Toe walking0MYO9A CL E G H464998914ORPHA01647608604875
HP:0040083HP:0040083Toe walking0MYPN CL E G H84665171881ORPHA0103323246608517
HP:0040083HP:0040083Toe walking0MYPN CL E G H84665171881ORPHA088723246608517
HP:0040083HP:0040083Toe walking0SLC18A3 CL E G H657298914ORPHA016510936600336
HP:0040083HP:0040083Toe walking0SLC18A3 CL E G H657298914ORPHA010210936600336
HP:0040083HP:0040083Toe walking0SLC25A1 CL E G H657698914ORPHA049810979190315
HP:0040083HP:0040083Toe walking0SLC25A1 CL E G H657698914ORPHA047010979190315
HP:0040083HP:0040083Toe walking0SLC5A7 CL E G H6048298914ORPHA031514025608761
HP:0040083HP:0040083Toe walking0SLC5A7 CL E G H6048298914ORPHA025914025608761
HP:0040083HP:0040083Toe walking0SNAP25 CL E G H661698914ORPHA014811132600322
HP:0040083HP:0040083Toe walking0SNAP25 CL E G H661698914ORPHA012711132600322
HP:0040083HP:0040083Toe walking0SYT2 CL E G H12783398914ORPHA012311510600104
HP:0040083HP:0040083Toe walking0SYT2 CL E G H12783398914ORPHA07911510600104
HP:0040083HP:0040083Toe walking0TPM2 CL E G H7169171881ORPHA024212011190990
HP:0040083HP:0040083Toe walking0TPM2 CL E G H7169171881ORPHA023412011190990
HP:0040083HP:0040083Toe walking0TPM3 CL E G H7170171881ORPHA028312012191030
HP:0040083HP:0040083Toe walking0TPM3 CL E G H7170171881ORPHA026112012191030
HP:0040083HP:0040083Toe walking0VAMP1 CL E G H684398914ORPHA09912642185880
HP:0040083HP:0040083Toe walking0VAMP1 CL E G H684398914ORPHA08312642185880


Genes (48) :AGRN ALDH18A1 ARSA ATL1 B4GALNT1 BICD2 CAPN3 CHAT COASY COL13A1 CRPPA CYP2U1 DMD DYSF EMD ERLIN2 FBN1 FHL1 FKRP FKTN GJB1 HADHA HADHB INPP5K ISPD KMT2B KY LMNA LRSAM1 MYO9A MYPN PANK2 PNPLA8 POMT1 PSAP SGCA SLC18A3 SLC25A1 SLC5A7 SNAP25 SYNE1 SYNE2 SYT2 TLK2 TMEM43 TPM2 TPM3 VAMP1

Diseases (31) :98914 447760 309256 100984 609195 615290 267 615643 370980 320411 615030 98895 254130 98863 209951 614185 606612 607155 302800 746 617404 617284 496689 98855 98853 614436 171881 216866 251950 62 618050
 

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