Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebellum morphology (HP:0001317)help
Grandparent Node:
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Abnormality of coordination (HP:0011443)help
Parent Node:
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Ataxia (HP:0001251)help
..Starting node
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Limb ataxia (HP:0002070)help
Term ID: 2070
Name: Limb ataxia
Synonym: Appendicular ataxia
Definition: A kind of ataxia that affects movements of the extremities.
Comments:
Reference: HP:0002070
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandDysdiadochokinesis (HP:0002075) help
..expandDysmetria (HP:0001310) help
..expandDyssynergia (HP:0010867) help
..expandEpisodic ataxia (HP:0002131) help
..expandGait ataxia (HP:0002066) help
..expandNonprogressive cerebellar ataxia (HP:0002470) help
..expandProgressive cerebellar ataxia (HP:0002073) help
..expandSpastic ataxia (HP:0002497) help
..expandTruncal ataxia (HP:0002078) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002070HP:0002070Limb ataxia0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1122061300371
HP:0002070HP:0002070Limb ataxia0AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0002070HP:0002070Limb ataxia0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0002070HP:0002070Limb ataxia0ANO10 CL E G H55129284289ORPHA124025519613726
HP:0002070HP:0002070Limb ataxia0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0002070HP:0002070Limb ataxia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0002070HP:0002070Limb ataxia0ATN1 CL E G H1822101ORPHA11133033607462
HP:0002070HP:0002070Limb ataxia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002070HP:0002070Limb ataxia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0002070HP:0002070Limb ataxia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002070HP:0002070Limb ataxia0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002070HP:0002070Limb ataxia0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0002070HP:0002070Limb ataxia0ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0002070HP:0002070Limb ataxia0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0002070HP:0002070Limb ataxia0CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002070HP:0002070Limb ataxia0COQ2 CL E G H27235227510ORPHA120525223609825
HP:0002070HP:0002070Limb ataxia0CSTB CL E G H1476308ORPHA12452482601145
HP:0002070HP:0002070Limb ataxia0EEF2 CL E G H1938101112ORPHA12043214130610
HP:0002070HP:0002070Limb ataxia0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM12043214130610
HP:0002070HP:0002070Limb ataxia0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM124214415605512
HP:0002070HP:0002070Limb ataxia0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM16321308611805
HP:0002070HP:0002070Limb ataxia0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11883596604269
HP:0002070HP:0002070Limb ataxia0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM12103668601513
HP:0002070HP:0002070Limb ataxia0FGF14 CL E G H225998764ORPHA12083671601515
HP:0002070HP:0002070Limb ataxia0FXN CL E G H239595ORPHA11433951606829
HP:0002070HP:0002070Limb ataxia0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11433951606829
HP:0002070HP:0002070Limb ataxia0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17974283304040
HP:0002070HP:0002070Limb ataxia0GRID2 CL E G H2895363432ORPHA11584576602368
HP:0002070HP:0002070Limb ataxia0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM111346180147265
HP:0002070HP:0002070Limb ataxia0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM111346180147265
HP:0002070HP:0002070Limb ataxia0KCNC3 CL E G H374898768ORPHA12166235176264
HP:0002070HP:0002070Limb ataxia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM12166235176264
HP:0002070HP:0002070Limb ataxia0KCND3 CL E G H375298772ORPHA13996239605411
HP:0002070HP:0002070Limb ataxia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM13996239605411
HP:0002070HP:0002070Limb ataxia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002070HP:0002070Limb ataxia0MME CL E G H4311497764ORPHA14227154120520
HP:0002070HP:0002070Limb ataxia0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0002070HP:0002070Limb ataxia0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0002070HP:0002070Limb ataxia0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM117219321605955
HP:0002070HP:0002070Limb ataxia0NOP56 CL E G H10528276198ORPHA14215911614154
HP:0002070HP:0002070Limb ataxia0PDYN CL E G H5173101108ORPHA11678820131340
HP:0002070HP:0002070Limb ataxia0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11678820131340
HP:0002070HP:0002070Limb ataxia0PEX10 CL E G H5192247815ORPHA16548851602859
HP:0002070HP:0002070Limb ataxia0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12217158615698
HP:0002070HP:0002070Limb ataxia0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002070HP:0002070Limb ataxia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0002070HP:0002070Limb ataxia0PRICKLE1 CL E G H144165308ORPHA148817019608500
HP:0002070HP:0002070Limb ataxia0PRKCG CL E G H558298763ORPHA12909402176980
HP:0002070HP:0002070Limb ataxia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002070HP:0002070Limb ataxia0RTN2 CL E G H6253100993ORPHA118410468603183
HP:0002070HP:0002070Limb ataxia0RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002070HP:0002070Limb ataxia0SCARB2 CL E G H950308ORPHA14221665602257
HP:0002070HP:0002070Limb ataxia0SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM144410586600235
HP:0002070HP:0002070Limb ataxia0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM11290445608465
HP:0002070HP:0002070Limb ataxia0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM122924624608005
HP:0002070HP:0002070Limb ataxia0SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002070HP:0002070Limb ataxia0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM171611276604985
HP:0002070HP:0002070Limb ataxia0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM154211280601530
HP:0002070HP:0002070Limb ataxia0STUB1 CL E G H10273412057ORPHA117011427607207
HP:0002070HP:0002070Limb ataxia0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM117011427607207
HP:0002070HP:0002070Limb ataxia0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1459817089608441
HP:0002070HP:0002070Limb ataxia0SYT14 CL E G H255928284271ORPHA19223143610949
HP:0002070HP:0002070Limb ataxia0SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM19223143610949
HP:0002070HP:0002070Limb ataxia0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM15225622617687
HP:0002070HP:0002070Limb ataxia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002070HP:0002070Limb ataxia0TGM6 CL E G H343641276193ORPHA128916255613900
HP:0002070HP:0002070Limb ataxia0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM119225186616101
HP:0002070HP:0002070Limb ataxia0TPP1 CL E G H1200284324ORPHA18492073607998
HP:0002070HP:0002070Limb ataxia0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM18492073607998
HP:0002070HP:0002070Limb ataxia0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM115723230610552
HP:0002070HP:0002070Limb ataxia0VAMP1 CL E G H6843251282ORPHA111812642185880
HP:0002070HP:0002070Limb ataxia0WASHC5 CL E G H9897100989ORPHA152728984610657
HP:0002070HP:0002070Limb ataxia0WWOX CL E G H51741284282ORPHA196712799605131
HP:0002070HP:0002070Limb ataxia0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM196712799605131
HP:0002070HP:0002070Limb ataxia0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM15212828194360
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002070HP:0002070Limb ataxia0CAPN1 CL E G H823488594ORPHA01241476114220
HP:0002070HP:0002070Limb ataxia0CYP7B1 CL E G H9420100986ORPHA03332652603711
HP:0002070HP:0002070Limb ataxia0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02083671601515
HP:0002070HP:0002070Limb ataxia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04215911614154


Genes (64) :ABCD1 AFG3L2 ANO10 APTX ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS BEAN1 CAPN1 CLCN2 COQ2 CSTB CYP7B1 EEF2 ELOVL4 ELOVL5 FAT2 FGF12 FGF14 FXN GJB1 GRID2 ITPR1 KCNC3 KCND3 MAN2B1 MME MSTO1 NKX6-2 NOP56 PDYN PEX10 PLD3 PMPCA POLG PRICKLE1 PRKCG PRNP RTN2 RUBCN SCARB2 SCN1B SETX SIL1 SLC9A1 SPTBN2 SQSTM1 STUB1 SYNE1 SYT14 TBC1D23 TBP TGM6 TMEM240 TPP1 UBA5 VAMP1 WASHC5 WWOX XRCC1

Diseases (76) :300100 101109 610246 284289 613728 208920 101 164400 603516 183090 109150 98760 117210 488594 615651 227510 308 100986 101112 609306 133190 615957 617769 617166 98764 609307 95 229300 1175 363432 606658 117360 98768 605259 98772 607346 248500 497764 617018 617675 617560 276198 614153 101108 610245 247815 617770 213200 258450 98763 137440 100993 404499 617350 606002 248800 616291 600224 617145 412057 615768 610743 284271 614229 617695 607136 276193 607454 284324 609270 617133 251282 100989 284282 614322 617633
 

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