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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Waddling gait (HP:0002515)help
Term ID: 2515
Name: Waddling gait
Synonym: 'Waddling' gait; Waddling walk
Definition: Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Comments:
Reference: HP:0002515
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
..expandToe walking (HP:0040083) help
..expandUnsteady gait (HP:0002317) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002515HP:0002515Waddling gait0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0002515HP:0002515Waddling gait0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H5897240ORPHA1362129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H582020ORPHA1362129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H5897240ORPHA1325129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H582020ORPHA1325129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0002515HP:0002515Waddling gait0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM119323159607905
HP:0002515HP:0002515Waddling gait0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM124123159607905
HP:0002515HP:0002515Waddling gait0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1671438171760
HP:0002515HP:0002515Waddling gait0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1575438171760
HP:0002515HP:0002515Waddling gait0ANO5 CL E G H203859399096ORPHA178627337608662
HP:0002515HP:0002515Waddling gait0ANO5 CL E G H203859399096ORPHA190027337608662
HP:0002515HP:0002515Waddling gait0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0002515HP:0002515Waddling gait0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0002515HP:0002515Waddling gait0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0002515HP:0002515Waddling gait0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0002515HP:0002515Waddling gait0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0002515HP:0002515Waddling gait0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0002515HP:0002515Waddling gait0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0002515HP:0002515Waddling gait0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0002515HP:0002515Waddling gait0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0002515HP:0002515Waddling gait0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0002515HP:0002515Waddling gait0BICD2 CL E G H23299363454ORPHA144517208609797
HP:0002515HP:0002515Waddling gait0BICD2 CL E G H23299363454ORPHA150617208609797
HP:0002515HP:0002515Waddling gait0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM150617208609797
HP:0002515HP:0002515Waddling gait0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM144517208609797
HP:0002515HP:0002515Waddling gait0BIN1 CL E G H274169186ORPHA14871052601248
HP:0002515HP:0002515Waddling gait0BIN1 CL E G H274169186ORPHA14311052601248
HP:0002515HP:0002515Waddling gait0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0002515HP:0002515Waddling gait0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0002515HP:0002515Waddling gait0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0002515HP:0002515Waddling gait0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0002515HP:0002515Waddling gait0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0002515HP:0002515Waddling gait0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0002515HP:0002515Waddling gait0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0002515HP:0002515Waddling gait0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0002515HP:0002515Waddling gait0CHST3 CL E G H9469263463ORPHA12851971603799
HP:0002515HP:0002515Waddling gait0CHST3 CL E G H9469263463ORPHA13331971603799
HP:0002515HP:0002515Waddling gait0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM12851971603799
HP:0002515HP:0002515Waddling gait0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13331971603799
HP:0002515HP:0002515Waddling gait0COL10A1 CL E G H1300156500Metaphyseal chondrodysplasia, Schmid type156500C0265289OMIM12132185120110
HP:0002515HP:0002515Waddling gait0COL10A1 CL E G H1300156500Metaphyseal chondrodysplasia, Schmid type156500C0265289OMIM12602185120110
HP:0002515HP:0002515Waddling gait0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM115402200120140
HP:0002515HP:0002515Waddling gait0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM112132200120140
HP:0002515HP:0002515Waddling gait0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM115402200120140
HP:0002515HP:0002515Waddling gait0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM112132200120140
HP:0002515HP:0002515Waddling gait0COL9A2 CL E G H1298600204Multiple epiphyseal dysplasia 2600204C1838429OMIM13362218120260
HP:0002515HP:0002515Waddling gait0COL9A2 CL E G H1298600204Multiple epiphyseal dysplasia 2600204C1838429OMIM14792218120260
HP:0002515HP:0002515Waddling gait0COLQ CL E G H829298915ORPHA14182226603033
HP:0002515HP:0002515Waddling gait0COLQ CL E G H829298915ORPHA13642226603033
HP:0002515HP:0002515Waddling gait0COMP CL E G H1311132400Multiple epiphyseal dysplasia 1132400C1838280OMIM13752227600310
HP:0002515HP:0002515Waddling gait0COMP CL E G H1311132400Multiple epiphyseal dysplasia 1132400C1838280OMIM12872227600310
HP:0002515HP:0002515Waddling gait0COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM12872227600310
HP:0002515HP:0002515Waddling gait0COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM13752227600310
HP:0002515HP:0002515Waddling gait0DMD CL E G H175698896ORPHA163952928300377
HP:0002515HP:0002515Waddling gait0DMD CL E G H175698896ORPHA156012928300377
HP:0002515HP:0002515Waddling gait0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0002515HP:0002515Waddling gait0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0002515HP:0002515Waddling gait0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0002515HP:0002515Waddling gait0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0002515HP:0002515Waddling gait0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0002515HP:0002515Waddling gait0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0002515HP:0002515Waddling gait0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0002515HP:0002515Waddling gait0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0002515HP:0002515Waddling gait0DSTYK CL E G H25778101003ORPHA18629043612666
HP:0002515HP:0002515Waddling gait0DSTYK CL E G H25778101003ORPHA17529043612666
HP:0002515HP:0002515Waddling gait0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM119121317607461
HP:0002515HP:0002515Waddling gait0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM122921317607461
HP:0002515HP:0002515Waddling gait0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM119121317607461
HP:0002515HP:0002515Waddling gait0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM122921317607461
HP:0002515HP:0002515Waddling gait0DYNC1H1 CL E G H1778158600Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant158600C1834690OMIM123852961600112
HP:0002515HP:0002515Waddling gait0DYNC1H1 CL E G H1778158600Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant158600C1834690OMIM120232961600112
HP:0002515HP:0002515Waddling gait0EMD CL E G H201098863ORPHA15793331300384
HP:0002515HP:0002515Waddling gait0EMD CL E G H201098863ORPHA15303331300384
HP:0002515HP:0002515Waddling gait0EMD CL E G H2010310300Emery-Dreifuss muscular dystrophy 1, X-linked310300C0751337OMIM15793331300384
HP:0002515HP:0002515Waddling gait0EMD CL E G H2010310300Emery-Dreifuss muscular dystrophy 1, X-linked310300C0751337OMIM15303331300384
HP:0002515HP:0002515Waddling gait0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM159919125611104
HP:0002515HP:0002515Waddling gait0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM153919125611104
HP:0002515HP:0002515Waddling gait0FHL1 CL E G H227398863ORPHA14373702300163
HP:0002515HP:0002515Waddling gait0FHL1 CL E G H227398863ORPHA14863702300163
HP:0002515HP:0002515Waddling gait0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0002515HP:0002515Waddling gait0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0002515HP:0002515Waddling gait0FKRP CL E G H7914734515ORPHA157217997606596
HP:0002515HP:0002515Waddling gait0FKRP CL E G H7914734515ORPHA167117997606596
HP:0002515HP:0002515Waddling gait0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0002515HP:0002515Waddling gait0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0002515HP:0002515Waddling gait0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0002515HP:0002515Waddling gait0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0002515HP:0002515Waddling gait0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM16093778135600
HP:0002515HP:0002515Waddling gait0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM14733778135600
HP:0002515HP:0002515Waddling gait0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14064241138292
HP:0002515HP:0002515Waddling gait0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM13744241138292
HP:0002515HP:0002515Waddling gait0HACD1 CL E G H92002020ORPHA1479639610467
HP:0002515HP:0002515Waddling gait0HACD1 CL E G H92002020ORPHA1859639610467
HP:0002515HP:0002515Waddling gait0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0002515HP:0002515Waddling gait0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0002515HP:0002515Waddling gait0HNRNPA1 CL E G H317852430ORPHA1605031164017
HP:0002515HP:0002515Waddling gait0HNRNPA1 CL E G H317852430ORPHA1595031164017
HP:0002515HP:0002515Waddling gait0HNRNPA2B1 CL E G H318152430ORPHA11265033600124
HP:0002515HP:0002515Waddling gait0HNRNPA2B1 CL E G H318152430ORPHA11555033600124
HP:0002515HP:0002515Waddling gait0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM171818873606951
HP:0002515HP:0002515Waddling gait0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM147618873606951
HP:0002515HP:0002515Waddling gait0ITGA7 CL E G H36792020ORPHA16286143600536
HP:0002515HP:0002515Waddling gait0ITGA7 CL E G H36792020ORPHA15236143600536
HP:0002515HP:0002515Waddling gait0LAMB2 CL E G H391398915ORPHA14706487150325
HP:0002515HP:0002515Waddling gait0LAMB2 CL E G H391398915ORPHA16006487150325
HP:0002515HP:0002515Waddling gait0LMNA CL E G H400098853ORPHA113476636150330
HP:0002515HP:0002515Waddling gait0LMNA CL E G H400098855ORPHA113476636150330
HP:0002515HP:0002515Waddling gait0LMNA CL E G H400098853ORPHA114866636150330
HP:0002515HP:0002515Waddling gait0LMNA CL E G H400098855ORPHA114866636150330
HP:0002515HP:0002515Waddling gait0LRP5 CL E G H40412788ORPHA111276697603506
HP:0002515HP:0002515Waddling gait0LRP5 CL E G H40412788ORPHA18616697603506
HP:0002515HP:0002515Waddling gait0LTBP4 CL E G H842598896ORPHA14056717604710
HP:0002515HP:0002515Waddling gait0LTBP4 CL E G H842598896ORPHA14746717604710
HP:0002515HP:0002515Waddling gait0MAP3K20 CL E G H517762020ORPHA17617797609479
HP:0002515HP:0002515Waddling gait0MAP3K20 CL E G H517762020ORPHA116217797609479
HP:0002515HP:0002515Waddling gait0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0002515HP:0002515Waddling gait0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0002515HP:0002515Waddling gait0MATN3 CL E G H4148156728ORPHA11386909602109
HP:0002515HP:0002515Waddling gait0MATN3 CL E G H4148156728ORPHA11646909602109
HP:0002515HP:0002515Waddling gait0MATN3 CL E G H4148608728Spondyloepimetaphyseal dysplasia Matrilin-3 related608728C1837481OMIM11386909602109
HP:0002515HP:0002515Waddling gait0MATN3 CL E G H4148608728Spondyloepimetaphyseal dysplasia Matrilin-3 related608728C1837481OMIM11646909602109
HP:0002515HP:0002515Waddling gait0MMP13 CL E G H4322250400Metaphyseal chondrodysplasia, Spahr type250400C0432225OMIM11887159600108
HP:0002515HP:0002515Waddling gait0MMP13 CL E G H4322250400Metaphyseal chondrodysplasia, Spahr type250400C0432225OMIM11527159600108
HP:0002515HP:0002515Waddling gait0MMP13 CL E G H4322602111Spondyloepimetaphyseal dysplasia, Missouri type602111C1865832OMIM11887159600108
HP:0002515HP:0002515Waddling gait0MMP13 CL E G H4322602111Spondyloepimetaphyseal dysplasia, Missouri type602111C1865832OMIM11527159600108
HP:0002515HP:0002515Waddling gait0MYH7 CL E G H4625608358Myosin storage myopathy608358C1842160OMIM132927577160760
HP:0002515HP:0002515Waddling gait0MYH7 CL E G H4625608358Myosin storage myopathy608358C1842160OMIM129607577160760
HP:0002515HP:0002515Waddling gait0MYL2 CL E G H46332020ORPHA14067583160781
HP:0002515HP:0002515Waddling gait0MYL2 CL E G H46332020ORPHA13557583160781
HP:0002515HP:0002515Waddling gait0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM124612399604103
HP:0002515HP:0002515Waddling gait0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM126712399604103
HP:0002515HP:0002515Waddling gait0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM188723246608517
HP:0002515HP:0002515Waddling gait0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1103323246608517
HP:0002515HP:0002515Waddling gait0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0002515HP:0002515Waddling gait0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0002515HP:0002515Waddling gait0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM13007737162230
HP:0002515HP:0002515Waddling gait0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM11507737162230
HP:0002515HP:0002515Waddling gait0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM14897739162280
HP:0002515HP:0002515Waddling gait0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM14387739162280
HP:0002515HP:0002515Waddling gait0NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1637866602991
HP:0002515HP:0002515Waddling gait0NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1827866602991
HP:0002515HP:0002515Waddling gait0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM174129105611101
HP:0002515HP:0002515Waddling gait0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM183229105611101
HP:0002515HP:0002515Waddling gait0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM15624488614783
HP:0002515HP:0002515Waddling gait0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM17424488614783
HP:0002515HP:0002515Waddling gait0POMT1 CL E G H1058586812ORPHA16099202607423
HP:0002515HP:0002515Waddling gait0POMT1 CL E G H1058586812ORPHA16869202607423
HP:0002515HP:0002515Waddling gait0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM149530228609557
HP:0002515HP:0002515Waddling gait0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM139530228609557
HP:0002515HP:0002515Waddling gait0PTH1R CL E G H5745156400Metaphyseal chondrodysplasia, Jansen type156400C0265295OMIM11669608168468
HP:0002515HP:0002515Waddling gait0PTH1R CL E G H5745156400Metaphyseal chondrodysplasia, Jansen type156400C0265295OMIM11359608168468
HP:0002515HP:0002515Waddling gait0RYR1 CL E G H6261169186ORPHA1410110483180901
HP:0002515HP:0002515Waddling gait0RYR1 CL E G H6261169186ORPHA1460410483180901
HP:0002515HP:0002515Waddling gait0SELENON CL E G H571902020ORPHA145415999606210
HP:0002515HP:0002515Waddling gait0SELENON CL E G H571902020ORPHA150515999606210
HP:0002515HP:0002515Waddling gait0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0002515HP:0002515Waddling gait0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0002515HP:0002515Waddling gait0SGCB CL E G H6443119ORPHA132710806600900
HP:0002515HP:0002515Waddling gait0SGCB CL E G H6443119ORPHA137410806600900
HP:0002515HP:0002515Waddling gait0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA140910809608896
HP:0002515HP:0002515Waddling gait0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA145210809608896
HP:0002515HP:0002515Waddling gait0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM120020859608735
HP:0002515HP:0002515Waddling gait0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM116720859608735
HP:0002515HP:0002515Waddling gait0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM15631399610299
HP:0002515HP:0002515Waddling gait0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM14831399610299
HP:0002515HP:0002515Waddling gait0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM149111102606622
HP:0002515HP:0002515Waddling gait0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM159211102606622
HP:0002515HP:0002515Waddling gait0SPEG CL E G H10290169186ORPHA163716901615950
HP:0002515HP:0002515Waddling gait0SPEG CL E G H10290169186ORPHA126516901615950
HP:0002515HP:0002515Waddling gait0SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002515HP:0002515Waddling gait0SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002515HP:0002515Waddling gait0SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002515HP:0002515Waddling gait0SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002515HP:0002515Waddling gait0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA112811766190180
HP:0002515HP:0002515Waddling gait0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA17411766190180
HP:0002515HP:0002515Waddling gait0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0002515HP:0002515Waddling gait0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0002515HP:0002515Waddling gait0TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002515HP:0002515Waddling gait0TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002515HP:0002515Waddling gait0TPM2 CL E G H71692020ORPHA124212011190990
HP:0002515HP:0002515Waddling gait0TPM2 CL E G H71692020ORPHA123412011190990
HP:0002515HP:0002515Waddling gait0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM123412011190990
HP:0002515HP:0002515Waddling gait0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM124212011190990
HP:0002515HP:0002515Waddling gait0TPM3 CL E G H71702020ORPHA126112012191030
HP:0002515HP:0002515Waddling gait0TPM3 CL E G H71702020ORPHA128312012191030
HP:0002515HP:0002515Waddling gait0TRAPPC11 CL E G H60684369840ORPHA167325751614138
HP:0002515HP:0002515Waddling gait0TRAPPC11 CL E G H60684369840ORPHA157325751614138
HP:0002515HP:0002515Waddling gait0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002515HP:0002515Waddling gait0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002515HP:0002515Waddling gait0TRIM32 CL E G H229541878Chromosome 1, uniparental disomy 1q12 q21CN035970ORPHA141016380602290
HP:0002515HP:0002515Waddling gait0TRIM32 CL E G H229541878Chromosome 1, uniparental disomy 1q12 q21CN035970ORPHA148216380602290
HP:0002515HP:0002515Waddling gait0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM148216380602290
HP:0002515HP:0002515Waddling gait0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM141016380602290
HP:0002515HP:0002515Waddling gait0TRPV4 CL E G H59341184252Spondylometaphyseal dysplasia, Kozlowski type184252C0265280OMIM170318083605427
HP:0002515HP:0002515Waddling gait0TRPV4 CL E G H59341184252Spondylometaphyseal dysplasia, Kozlowski type184252C0265280OMIM178118083605427
HP:0002515HP:0002515Waddling gait0TTN CL E G H7273169186ORPHA11798412403188840
HP:0002515HP:0002515Waddling gait0TTN CL E G H7273169186ORPHA11902812403188840
HP:0002515HP:0002515Waddling gait0UFSP2 CL E G H55325617974SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE617974CN244923OMIM113825640611482
HP:0002515HP:0002515Waddling gait0UFSP2 CL E G H55325617974SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE617974CN244923OMIM113925640611482
HP:0002515HP:0002515Waddling gait0VCP CL E G H741552430ORPHA139512666601023
HP:0002515HP:0002515Waddling gait0VCP CL E G H741552430ORPHA135612666601023
HP:0002515HP:0002515Waddling gait0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM17912856600013
HP:0002515HP:0002515Waddling gait0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM17212856600013
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H5897244ORPHA0325129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H58171436ORPHA0362129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H58171439ORPHA0362129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H58171436ORPHA0325129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H58171439ORPHA0325129102610
HP:0002515HP:0002515Waddling gait0ACTA1 CL E G H5897244ORPHA0362129102610
HP:0002515HP:0002515Waddling gait0AGRN CL E G H37579098914ORPHA01579329103320
HP:0002515HP:0002515Waddling gait0AGRN CL E G H37579098914ORPHA01309329103320
HP:0002515HP:0002515Waddling gait0ALG14 CL E G H199857353327ORPHA09728287612866
HP:0002515HP:0002515Waddling gait0ALG14 CL E G H199857353327ORPHA07628287612866
HP:0002515HP:0002515Waddling gait0ALG2 CL E G H85365353327ORPHA019323159607905
HP:0002515HP:0002515Waddling gait0ALG2 CL E G H85365353327ORPHA024123159607905
HP:0002515HP:0002515Waddling gait0CFL2 CL E G H1073171436ORPHA01281875601443
HP:0002515HP:0002515Waddling gait0CFL2 CL E G H1073171436ORPHA01391875601443
HP:0002515HP:0002515Waddling gait0CHAT CL E G H110398914ORPHA05111912118490
HP:0002515HP:0002515Waddling gait0CHAT CL E G H110398914ORPHA06521912118490
HP:0002515HP:0002515Waddling gait0COL13A1 CL E G H130598914ORPHA02942190120350
HP:0002515HP:0002515Waddling gait0COL13A1 CL E G H130598914ORPHA01792190120350
HP:0002515HP:0002515Waddling gait0DPAGT1 CL E G H1798353327ORPHA02332995191350
HP:0002515HP:0002515Waddling gait0DPAGT1 CL E G H1798353327ORPHA01992995191350
HP:0002515HP:0002515Waddling gait0GFPT1 CL E G H2673353327ORPHA03744241138292
HP:0002515HP:0002515Waddling gait0GFPT1 CL E G H2673353327ORPHA04064241138292
HP:0002515HP:0002515Waddling gait0GMPPB CL E G H29925353327ORPHA023422932615320
HP:0002515HP:0002515Waddling gait0GMPPB CL E G H29925353327ORPHA020322932615320
HP:0002515HP:0002515Waddling gait0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM07621033610876
HP:0002515HP:0002515Waddling gait0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM09121033610876
HP:0002515HP:0002515Waddling gait0KBTBD13 CL E G H390594171439ORPHA031637227613727
HP:0002515HP:0002515Waddling gait0KBTBD13 CL E G H390594171439ORPHA038837227613727
HP:0002515HP:0002515Waddling gait0KLHL41 CL E G H10324171439ORPHA019916905607701
HP:0002515HP:0002515Waddling gait0KLHL41 CL E G H10324171436ORPHA019916905607701
HP:0002515HP:0002515Waddling gait0KLHL41 CL E G H10324171439ORPHA015716905607701
HP:0002515HP:0002515Waddling gait0KLHL41 CL E G H10324171436ORPHA015716905607701
HP:0002515HP:0002515Waddling gait0LMNA CL E G H4000264ORPHA014866636150330
HP:0002515HP:0002515Waddling gait0LMNA CL E G H4000264ORPHA013476636150330
HP:0002515HP:0002515Waddling gait0LMOD3 CL E G H56203171436ORPHA02406649616112
HP:0002515HP:0002515Waddling gait0LMOD3 CL E G H56203171436ORPHA03086649616112
HP:0002515HP:0002515Waddling gait0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM06477572160740
HP:0002515HP:0002515Waddling gait0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM08017572160740
HP:0002515HP:0002515Waddling gait0MYO9A CL E G H464998914ORPHA01647608604875
HP:0002515HP:0002515Waddling gait0MYO9A CL E G H464998914ORPHA01687608604875
HP:0002515HP:0002515Waddling gait0MYPN CL E G H84665171439ORPHA088723246608517
HP:0002515HP:0002515Waddling gait0MYPN CL E G H84665171439ORPHA0103323246608517
HP:0002515HP:0002515Waddling gait0NEB CL E G H4703171439ORPHA053137720161650
HP:0002515HP:0002515Waddling gait0NEB CL E G H4703171436ORPHA053137720161650
HP:0002515HP:0002515Waddling gait0NEB CL E G H4703171439ORPHA046747720161650
HP:0002515HP:0002515Waddling gait0NEB CL E G H4703171436ORPHA046747720161650
HP:0002515HP:0002515Waddling gait0SELENON CL E G H5719097244ORPHA050515999606210
HP:0002515HP:0002515Waddling gait0SELENON CL E G H5719097244ORPHA045415999606210
HP:0002515HP:0002515Waddling gait0SLC18A3 CL E G H657298914ORPHA016510936600336
HP:0002515HP:0002515Waddling gait0SLC18A3 CL E G H657298914ORPHA010210936600336
HP:0002515HP:0002515Waddling gait0SLC25A1 CL E G H657698914ORPHA047010979190315
HP:0002515HP:0002515Waddling gait0SLC25A1 CL E G H657698914ORPHA049810979190315
HP:0002515HP:0002515Waddling gait0SLC5A7 CL E G H6048298914ORPHA031514025608761
HP:0002515HP:0002515Waddling gait0SLC5A7 CL E G H6048298914ORPHA025914025608761
HP:0002515HP:0002515Waddling gait0SNAP25 CL E G H661698914ORPHA012711132600322
HP:0002515HP:0002515Waddling gait0SNAP25 CL E G H661698914ORPHA014811132600322
HP:0002515HP:0002515Waddling gait0SYT2 CL E G H12783398914ORPHA012311510600104
HP:0002515HP:0002515Waddling gait0SYT2 CL E G H12783398914ORPHA07911510600104
HP:0002515HP:0002515Waddling gait0TPM2 CL E G H7169171439ORPHA023412011190990
HP:0002515HP:0002515Waddling gait0TPM2 CL E G H7169171436ORPHA023412011190990
HP:0002515HP:0002515Waddling gait0TPM2 CL E G H7169171439ORPHA024212011190990
HP:0002515HP:0002515Waddling gait0TPM2 CL E G H7169171436ORPHA024212011190990
HP:0002515HP:0002515Waddling gait0TPM3 CL E G H7170171439ORPHA028312012191030
HP:0002515HP:0002515Waddling gait0TPM3 CL E G H7170171439ORPHA026112012191030
HP:0002515HP:0002515Waddling gait0VAMP1 CL E G H684398914ORPHA08312642185880
HP:0002515HP:0002515Waddling gait0VAMP1 CL E G H684398914ORPHA09912642185880


Genes (100) :ACAN ACTA1 AGRN ALG14 ALG2 ALPL ANO5 AP4B1 AP4E1 AP4M1 AP4S1 BICD2 BIN1 CANT1 CCN6 CFL2 CHAT CHKB CHST3 COL10A1 COL13A1 COL2A1 COL9A2 COLQ COMP DMD DNAJB6 DOK7 DPAGT1 DPM3 DSTYK DYM DYNC1H1 EMD FGD4 FHL1 FKRP FLNC FN1 GFPT1 GMPPB HACD1 HACE1 HNRNPA1 HNRNPA2B1 IFIH1 ITGA7 KBTBD13 KLHL41 LAMB2 LMNA LMOD3 LRP5 LTBP4 MAP3K20 MATN3 MMP13 MYH2 MYH7 MYL2 MYO9A MYOT MYPN NEB NEFH NEFL NOG PLEKHG5 POC1A POMT1 PREPL PTH1R RYR1 SELENON SGCA SGCB SGCG SLC18A3 SLC25A1 SLC39A13 SLC5A7 SLC6A17 SMARCAL1 SNAP25 SPEG SYNE1 SYNE2 SYT2 TGFB1 TMEM43 TPM2 TPM3 TRAPPC11 TRIM32 TRPV4 TTN UFSP2 VAMP1 VCP YY1

Diseases (90) :165800 171439 97240 171436 2020 97244 161800 98914 353327 616228 241510 399096 280763 614066 363454 615290 169186 255200 251450 208230 602541 263463 143095 156500 609162 183900 600204 98915 132400 177170 98896 310200 603511 254300 612937 101003 223800 607326 158600 98863 310300 609311 300695 34515 607155 609524 184255 610542 464282 616756 52430 182250 98855 98853 264 2788 617760 156728 608728 250400 602111 605637 608358 182920 617336 256030 616924 617882 186500 611067 614813 86812 616224 156400 62 119 353 612350 616269 242900 1328 131300 609285 369840 615356 1878 254110 184252 617974 617557
 

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