Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lower limb (HP:0002814)help
Parent Node:
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Abnormality of the foot (HP:0001760)help
..Starting node
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Pes cavus (HP:0001761)help
Term ID: 1761
Name: Pes cavus
Synonym: High-arched foot
Definition: The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Comments:
Reference: HP:0001761
Genes and Diseases:
 
       Child Nodes:
........expandProgressive pes cavus (HP:0008075) help

 Sister Nodes: 
..expandAbnormal foot bone ossification (HP:0010675) help
..expandAbnormal metatarsal morphology (HP:0001832) help
..expandAbnormality of dorsoventral patterning of the limbs (HP:0100270) help
..expandAbnormality of the Achilles tendon (HP:0005109) help
..expandAbnormality of the plantar skin of foot (HP:0100872) help
..expandAbnormality of the tarsal bones (HP:0001850) help
..expandAbnormality of toe (HP:0001780) help
..expandAnkylosis of feet small joints (HP:0008090) help
..expandAplasia/Hypoplasia involving bones of the feet (HP:0006494) help
..expandAutoamputation of foot (HP:0001868) help
..expandBroad foot (HP:0001769) help
..expandContractures involving the joints of the feet (HP:0008366) help
..expandDuplication involving bones of the feet (HP:0009136) help
..expandEquinovarus deformity (HP:0008110) help
..expandFoot asymmetry (HP:0010507) help
..expandFoot osteomyelitis (HP:0001886) help
..expandLong foot (HP:0001833) help
..expandMedial deviation of the foot (HP:0008082) help
..expandMedial rotation of the medial malleolus (HP:0008132) help
..expandNarrow foot (HP:0001786) help
..expandOsteolysis involving bones of the feet (HP:0009134) help
..expandPes planus (HP:0001763) help
..expandPes valgus (HP:0008081) help
..expandPodagra (HP:0001854) help
..expandPositional foot deformity (HP:0005656) help
..expandSplit foot (HP:0001839) help
..expandStructural foot deformity (HP:0010219) help
..expandSynostosis involving bones of the feet (HP:0009140) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001761HP:0001761Pes cavus0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM12120601065
HP:0001761HP:0001761Pes cavus0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12116115868613599
HP:0001761HP:0001761Pes cavus0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0001761HP:0001761Pes cavus0AIFM1 CL E G H9131101078ORPHA1333438768300169
HP:0001761HP:0001761Pes cavus0ALDH18A1 CL E G H5832447753ORPHA1332529722138250
HP:0001761HP:0001761Pes cavus0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1332529722138250
HP:0001761HP:0001761Pes cavus0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173347443606352
HP:0001761HP:0001761Pes cavus0ANO10 CL E G H55129284289ORPHA11915325519613726
HP:0001761HP:0001761Pes cavus0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM11915325519613726
HP:0001761HP:0001761Pes cavus0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM11913466211300836
HP:0001761HP:0001761Pes cavus0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14617915984606350
HP:0001761HP:0001761Pes cavus0ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM18522011231606439
HP:0001761HP:0001761Pes cavus0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18522011231606439
HP:0001761HP:0001761Pes cavus0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122407801182350
HP:0001761HP:0001761Pes cavus0ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM1357607869300011
HP:0001761HP:0001761Pes cavus0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001761HP:0001761Pes cavus0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM113974117601873
HP:0001761HP:0001761Pes cavus0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM168449939603883
HP:0001761HP:0001761Pes cavus0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM15026315832606158
HP:0001761HP:0001761Pes cavus0C19orf12 CL E G H83636320370ORPHA13820625443614297
HP:0001761HP:0001761Pes cavus0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM13820625443614297
HP:0001761HP:0001761Pes cavus0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM13820625443614297
HP:0001761HP:0001761Pes cavus0CAPN1 CL E G H823488594ORPHA118421476114220
HP:0001761HP:0001761Pes cavus0CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM1502851529601253
HP:0001761HP:0001761Pes cavus0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12716315559615903
HP:0001761HP:0001761Pes cavus0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0001761HP:0001761Pes cavus0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM14330616812606980
HP:0001761HP:0001761Pes cavus0COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM11272277602072
HP:0001761HP:0001761Pes cavus0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM112472498604927
HP:0001761HP:0001761Pes cavus0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0001761HP:0001761Pes cavus0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0001761HP:0001761Pes cavus0CYP7B1 CL E G H9420100986ORPHA1631992652603711
HP:0001761HP:0001761Pes cavus0DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM112524891615820
HP:0001761HP:0001761Pes cavus0DDHD1 CL E G H80821101008ORPHA11312819714614603
HP:0001761HP:0001761Pes cavus0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM11312819714614603
HP:0001761HP:0001761Pes cavus0DNAJC6 CL E G H9829391411ORPHA1148315469608375
HP:0001761HP:0001761Pes cavus0DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM1525062974602378
HP:0001761HP:0001761Pes cavus0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM17714532961600112
HP:0001761HP:0001761Pes cavus0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241973239129010
HP:0001761HP:0001761Pes cavus0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM1151031356611605
HP:0001761HP:0001761Pes cavus0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0001761HP:0001761Pes cavus0FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM1231423602604580
HP:0001761HP:0001761Pes cavus0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0001761HP:0001761Pes cavus0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM13041519125611104
HP:0001761HP:0001761Pes cavus0FGF14 CL E G H225998764ORPHA1101633671601515
HP:0001761HP:0001761Pes cavus0FLRT1 CL E G H23769320406ORPHA11693760604806
HP:0001761HP:0001761Pes cavus0FXN CL E G H239595ORPHA1661013951606829
HP:0001761HP:0001761Pes cavus0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM1661013951606829
HP:0001761HP:0001761Pes cavus0GAN CL E G H8139643ORPHA1804354137605379
HP:0001761HP:0001761Pes cavus0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM1804354137605379
HP:0001761HP:0001761Pes cavus0GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM1414162600287
HP:0001761HP:0001761Pes cavus0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0001761HP:0001761Pes cavus0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12319418986609471
HP:0001761HP:0001761Pes cavus0GCH1 CL E G H264398808ORPHA12522084193600225
HP:0001761HP:0001761Pes cavus0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12522084193600225
HP:0001761HP:0001761Pes cavus0GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM110335115968606598
HP:0001761HP:0001761Pes cavus0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM110335115968606598
HP:0001761HP:0001761Pes cavus0GJB1 CL E G H2705101075ORPHA14996684283304040
HP:0001761HP:0001761Pes cavus0GJB1 CL E G H27051175CDK4 linked melanomaORPHA14996684283304040
HP:0001761HP:0001761Pes cavus0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM14996684283304040
HP:0001761HP:0001761Pes cavus0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14103854284121011
HP:0001761HP:0001761Pes cavus0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
HP:0001761HP:0001761Pes cavus0GJC2 CL E G H57165320401ORPHA15713317494608803
HP:0001761HP:0001761Pes cavus0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM15713317494608803
HP:0001761HP:0001761Pes cavus0GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM1510620731610863
HP:0001761HP:0001761Pes cavus0HARS CL E G H3035488333ORPHA1134816142810
HP:0001761HP:0001761Pes cavus0HARS CL E G H3035616625Charcot-Marie-Tooth disease, axonal, type 2w616625C4225265OMIM1134816142810
HP:0001761HP:0001761Pes cavus0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0001761HP:0001761Pes cavus0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM11013055213601860
HP:0001761HP:0001761Pes cavus0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM1482265246602195
HP:0001761HP:0001761Pes cavus0HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM11012330171608014
HP:0001761HP:0001761Pes cavus0IBA57 CL E G H200205468661ORPHA12311327302615316
HP:0001761HP:0001761Pes cavus0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0001761HP:0001761Pes cavus0IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0001761HP:0001761Pes cavus0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0001761HP:0001761Pes cavus0IFRD1 CL E G H347598771ORPHA13415456603502
HP:0001761HP:0001761Pes cavus0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM17362523791610982
HP:0001761HP:0001761Pes cavus0IQSEC2 CL E G H23096217377ORPHA15753929059300522
HP:0001761HP:0001761Pes cavus0KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM1256215601421
HP:0001761HP:0001761Pes cavus0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM11353216636605995
HP:0001761HP:0001761Pes cavus0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM1692496323602821
HP:0001761HP:0001761Pes cavus0KLC2 CL E G H64837320406ORPHA132520716611729
HP:0001761HP:0001761Pes cavus0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM132520716611729
HP:0001761HP:0001761Pes cavus0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0001761HP:0001761Pes cavus0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM11035356501309060
HP:0001761HP:0001761Pes cavus0LAS1L CL E G H818873459ORPHA1417225726300964
HP:0001761HP:0001761Pes cavus0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0001761HP:0001761Pes cavus0LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM11920216841603795
HP:0001761HP:0001761Pes cavus0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM157411526636150330
HP:0001761HP:0001761Pes cavus0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM11644225135610933
HP:0001761HP:0001761Pes cavus0MAFB CL E G H9935166300Multicentric osteolysis nephropathy166300C2674705OMIM1251056408608968
HP:0001761HP:0001761Pes cavus0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM1105014426990300005
HP:0001761HP:0001761Pes cavus0MFN2 CL E G H992799947ORPHA123168016877608507
HP:0001761HP:0001761Pes cavus0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM123168016877608507
HP:0001761HP:0001761Pes cavus0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM123168016877608507
HP:0001761HP:0001761Pes cavus0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123168016877608507
HP:0001761HP:0001761Pes cavus0MME CL E G H4311497764ORPHA128917154120520
HP:0001761HP:0001761Pes cavus0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM128917154120520
HP:0001761HP:0001761Pes cavus0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM1271487166120360
HP:0001761HP:0001761Pes cavus0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM11826723573616661
HP:0001761HP:0001761Pes cavus0MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM12464447225159440
HP:0001761HP:0001761Pes cavus0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM12464447225159440
HP:0001761HP:0001761Pes cavus0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM12464447225159440
HP:0001761HP:0001761Pes cavus0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM12464447225159440
HP:0001761HP:0001761Pes cavus0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM12464447225159440
HP:0001761HP:0001761Pes cavus0MSTO1 CL E G H55154502423ORPHA183529678617619
HP:0001761HP:0001761Pes cavus0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0001761HP:0001761Pes cavus0MYH7 CL E G H4625437572ORPHA1100224407577160760
HP:0001761HP:0001761Pes cavus0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM1100224407577160760
HP:0001761HP:0001761Pes cavus0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM1251057737162230
HP:0001761HP:0001761Pes cavus0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM1443767739162280
HP:0001761HP:0001761Pes cavus0NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM1443767739162280
HP:0001761HP:0001761Pes cavus0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM1443767739162280
HP:0001761HP:0001761Pes cavus0NIPA1 CL E G H123606100988ORPHA11748317043608145
HP:0001761HP:0001761Pes cavus0NIPA1 CL E G H123606600363Spastic paraplegia 6600363C1838192OMIM11748317043608145
HP:0001761HP:0001761Pes cavus0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM11408729176740
HP:0001761HP:0001761Pes cavus0PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM142088811300906
HP:0001761HP:0001761Pes cavus0PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM1142809719600414
HP:0001761HP:0001761Pes cavus0PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM1531878860601757
HP:0001761HP:0001761Pes cavus0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM1531878860601757
HP:0001761HP:0001761Pes cavus0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM1371278940602026
HP:0001761HP:0001761Pes cavus0PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM11256329105611101
HP:0001761HP:0001761Pes cavus0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13523009086300401
HP:0001761HP:0001761Pes cavus0PMP2 CL E G H5375618279618279618279OMIM13419117170715
HP:0001761HP:0001761Pes cavus0PMP22 CL E G H5376101081ORPHA11653379118601097
HP:0001761HP:0001761Pes cavus0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM11653379118601097
HP:0001761HP:0001761Pes cavus0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM11653379118601097
HP:0001761HP:0001761Pes cavus0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM11653379118601097
HP:0001761HP:0001761Pes cavus0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM11653379118601097
HP:0001761HP:0001761Pes cavus0PODXL CL E G H5420391411ORPHA112599171602632
HP:0001761HP:0001761Pes cavus0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0001761HP:0001761Pes cavus0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM130011969179174763
HP:0001761HP:0001761Pes cavus0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0001761HP:0001761Pes cavus0PRPS1 CL E G H563199014ORPHA1322599462311850
HP:0001761HP:0001761Pes cavus0PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM1322599462311850
HP:0001761HP:0001761Pes cavus0PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM16269913797605725
HP:0001761HP:0001761Pes cavus0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM16269913797605725
HP:0001761HP:0001761Pes cavus0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM168326162617220
HP:0001761HP:0001761Pes cavus0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0001761HP:0001761Pes cavus0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM171259788602298
HP:0001761HP:0001761Pes cavus0REEP1 CL E G H65055101011ORPHA16122725786609139
HP:0001761HP:0001761Pes cavus0REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM16122725786609139
HP:0001761HP:0001761Pes cavus0REEP2 CL E G H51308401849ORPHA153517975609347
HP:0001761HP:0001761Pes cavus0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0001761HP:0001761Pes cavus0RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM1511310468603183
HP:0001761HP:0001761Pes cavus0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0001761HP:0001761Pes cavus0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1264119110519604490
HP:0001761HP:0001761Pes cavus0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM1297172135607697
HP:0001761HP:0001761Pes cavus0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM1216651445608465
HP:0001761HP:0001761Pes cavus0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1102109229427608206
HP:0001761HP:0001761Pes cavus0SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM1191258157601978
HP:0001761HP:0001761Pes cavus0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM11717425198610826
HP:0001761HP:0001761Pes cavus0SLC33A1 CL E G H9197612539Spastic paraplegia 42, autosomal dominant612539C2675528OMIM176095603690
HP:0001761HP:0001761Pes cavus0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM12016914025608761
HP:0001761HP:0001761Pes cavus0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0001761HP:0001761Pes cavus0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM115119211190602229
HP:0001761HP:0001761Pes cavus0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0001761HP:0001761Pes cavus0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0001761HP:0001761Pes cavus0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM111146011237602783
HP:0001761HP:0001761Pes cavus0SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM11220811277605712
HP:0001761HP:0001761Pes cavus0SYNJ1 CL E G H8867391411ORPHA12745211503604297
HP:0001761HP:0001761Pes cavus0SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM133911510600104
HP:0001761HP:0001761Pes cavus0TDP1 CL E G H5577594124ORPHA1313718884607198
HP:0001761HP:0001761Pes cavus0TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM1313718884607198
HP:0001761HP:0001761Pes cavus0TH CL E G H7054101150ORPHA17734511782191290
HP:0001761HP:0001761Pes cavus0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
HP:0001761HP:0001761Pes cavus0TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM1816915974614141
HP:0001761HP:0001761Pes cavus0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM18253918083605427
HP:0001761HP:0001761Pes cavus0TTPA CL E G H727496ORPHA13014312404600415
HP:0001761HP:0001761Pes cavus0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM165912513191342
HP:0001761HP:0001761Pes cavus0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0001761HP:0001761Pes cavus0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM166412642185880
HP:0001761HP:0001761Pes cavus0VCP CL E G H7415435387ORPHA16526012666601023
HP:0001761HP:0001761Pes cavus0VCP CL E G H7415616687Charcot-Marie-Tooth disease, axonal, type 2y616687C4225244OMIM16526012666601023
HP:0001761HP:0001761Pes cavus0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM11165061908605978
HP:0001761HP:0001761Pes cavus0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM11910323595608877
HP:0001761HP:0001761Pes cavus0WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM12026828984610657
HP:0001761HP:0001761Pes cavus0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0001761HP:0001761Pes cavus0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0001761HP:0001761Pes cavus0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0001761HP:0001761Pes cavus1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM12120601065
HP:0001761HP:0001761Pes cavus1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12116115868613599
HP:0001761HP:0001761Pes cavus1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0001761HP:0001761Pes cavus1AIFM1 CL E G H9131101078ORPHA1333438768300169
HP:0001761HP:0001761Pes cavus1ALDH18A1 CL E G H5832447753ORPHA1332529722138250
HP:0001761HP:0001761Pes cavus1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1332529722138250
HP:0001761HP:0001761Pes cavus1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173347443606352
HP:0001761HP:0001761Pes cavus1ANO10 CL E G H55129284289ORPHA11915325519613726
HP:0001761HP:0001761Pes cavus1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM11915325519613726
HP:0001761HP:0001761Pes cavus1ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM11913466211300836
HP:0001761HP:0001761Pes cavus1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14617915984606350
HP:0001761HP:0001761Pes cavus1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM18522011231606439
HP:0001761HP:0001761Pes cavus1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18522011231606439
HP:0001761HP:0001761Pes cavus1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122407801182350
HP:0001761HP:0001761Pes cavus1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM1357607869300011
HP:0001761HP:0001761Pes cavus1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001761HP:0001761Pes cavus1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM113974117601873
HP:0001761HP:0001761Pes cavus1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM168449939603883
HP:0001761HP:0001761Pes cavus1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM15026315832606158
HP:0001761HP:0001761Pes cavus1C19orf12 CL E G H83636320370ORPHA13820625443614297
HP:0001761HP:0001761Pes cavus1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM13820625443614297
HP:0001761HP:0001761Pes cavus1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM13820625443614297
HP:0001761HP:0001761Pes cavus1CAPN1 CL E G H823488594ORPHA118421476114220
HP:0001761HP:0001761Pes cavus1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM1502851529601253
HP:0001761HP:0001761Pes cavus1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12716315559615903
HP:0001761HP:0001761Pes cavus1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0001761HP:0001761Pes cavus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM14330616812606980
HP:0001761HP:0001761Pes cavus1COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM11272277602072
HP:0001761HP:0001761Pes cavus1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM112472498604927
HP:0001761HP:0001761Pes cavus1CUL4B CL E G H845085293ORPHA1402472555300304
HP:0001761HP:0001761Pes cavus1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0001761HP:0001761Pes cavus1CYP7B1 CL E G H9420100986ORPHA1631992652603711
HP:0001761HP:0001761Pes cavus1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM112524891615820
HP:0001761HP:0001761Pes cavus1DDHD1 CL E G H80821101008ORPHA11312819714614603
HP:0001761HP:0001761Pes cavus1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM11312819714614603
HP:0001761HP:0001761Pes cavus1DNAJC6 CL E G H9829391411ORPHA1148315469608375
HP:0001761HP:0001761Pes cavus1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM1525062974602378
HP:0001761HP:0001761Pes cavus1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM17714532961600112
HP:0001761HP:0001761Pes cavus1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241973239129010
HP:0001761HP:0001761Pes cavus1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM1151031356611605
HP:0001761HP:0001761Pes cavus1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0001761HP:0001761Pes cavus1FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM1231423602604580
HP:0001761HP:0001761Pes cavus1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0001761HP:0001761Pes cavus1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM13041519125611104
HP:0001761HP:0001761Pes cavus1FGF14 CL E G H225998764ORPHA1101633671601515
HP:0001761HP:0001761Pes cavus1FLRT1 CL E G H23769320406ORPHA11693760604806
HP:0001761HP:0001761Pes cavus1FXN CL E G H239595ORPHA1661013951606829
HP:0001761HP:0001761Pes cavus1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM1661013951606829
HP:0001761HP:0001761Pes cavus1GAN CL E G H8139643ORPHA1804354137605379
HP:0001761HP:0001761Pes cavus1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM1804354137605379
HP:0001761HP:0001761Pes cavus1GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM1414162600287
HP:0001761HP:0001761Pes cavus1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0001761HP:0001761Pes cavus1GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12319418986609471
HP:0001761HP:0001761Pes cavus1GCH1 CL E G H264398808ORPHA12522084193600225
HP:0001761HP:0001761Pes cavus1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12522084193600225
HP:0001761HP:0001761Pes cavus1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM110335115968606598
HP:0001761HP:0001761Pes cavus1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM110335115968606598
HP:0001761HP:0001761Pes cavus1GJB1 CL E G H2705101075ORPHA14996684283304040
HP:0001761HP:0001761Pes cavus1GJB1 CL E G H27051175CDK4 linked melanomaORPHA14996684283304040
HP:0001761HP:0001761Pes cavus1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM14996684283304040
HP:0001761HP:0001761Pes cavus1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14103854284121011
HP:0001761HP:0001761Pes cavus1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
HP:0001761HP:0001761Pes cavus1GJC2 CL E G H57165320401ORPHA15713317494608803
HP:0001761HP:0001761Pes cavus1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM15713317494608803
HP:0001761HP:0001761Pes cavus1GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM1510620731610863
HP:0001761HP:0001761Pes cavus1HARS CL E G H3035488333ORPHA1134816142810
HP:0001761HP:0001761Pes cavus1HARS CL E G H3035616625Charcot-Marie-Tooth disease, axonal, type 2w616625C4225265OMIM1134816142810
HP:0001761HP:0001761Pes cavus1HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0001761HP:0001761Pes cavus1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM11013055213601860
HP:0001761HP:0001761Pes cavus1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM1482265246602195
HP:0001761HP:0001761Pes cavus1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM11012330171608014
HP:0001761HP:0001761Pes cavus1IBA57 CL E G H200205468661ORPHA12311327302615316
HP:0001761HP:0001761Pes cavus1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0001761HP:0001761Pes cavus1IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0001761HP:0001761Pes cavus1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0001761HP:0001761Pes cavus1IFRD1 CL E G H347598771ORPHA13415456603502
HP:0001761HP:0001761Pes cavus1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM17362523791610982
HP:0001761HP:0001761Pes cavus1IQSEC2 CL E G H23096217377ORPHA15753929059300522
HP:0001761HP:0001761Pes cavus1KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM1256215601421
HP:0001761HP:0001761Pes cavus1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM11353216636605995
HP:0001761HP:0001761Pes cavus1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM1692496323602821
HP:0001761HP:0001761Pes cavus1KLC2 CL E G H64837320406ORPHA132520716611729
HP:0001761HP:0001761Pes cavus1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM132520716611729
HP:0001761HP:0001761Pes cavus1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0001761HP:0001761Pes cavus1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM11035356501309060
HP:0001761HP:0001761Pes cavus1LAS1L CL E G H818873459ORPHA1417225726300964
HP:0001761HP:0001761Pes cavus1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0001761HP:0001761Pes cavus1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM11920216841603795
HP:0001761HP:0001761Pes cavus1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM157411526636150330
HP:0001761HP:0001761Pes cavus1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM11644225135610933
HP:0001761HP:0001761Pes cavus1MAFB CL E G H9935166300Multicentric osteolysis nephropathy166300C2674705OMIM1251056408608968
HP:0001761HP:0001761Pes cavus1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM1105014426990300005
HP:0001761HP:0001761Pes cavus1MFN2 CL E G H992799947ORPHA123168016877608507
HP:0001761HP:0001761Pes cavus1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM123168016877608507
HP:0001761HP:0001761Pes cavus1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM123168016877608507
HP:0001761HP:0001761Pes cavus1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123168016877608507
HP:0001761HP:0001761Pes cavus1MME CL E G H4311497764ORPHA128917154120520
HP:0001761HP:0001761Pes cavus1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM128917154120520
HP:0001761HP:0001761Pes cavus1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM1271487166120360
HP:0001761HP:0001761Pes cavus1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM11826723573616661
HP:0001761HP:0001761Pes cavus1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM12464447225159440
HP:0001761HP:0001761Pes cavus1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM12464447225159440
HP:0001761HP:0001761Pes cavus1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM12464447225159440
HP:0001761HP:0001761Pes cavus1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM12464447225159440
HP:0001761HP:0001761Pes cavus1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM12464447225159440
HP:0001761HP:0001761Pes cavus1MSTO1 CL E G H55154502423ORPHA183529678617619
HP:0001761HP:0001761Pes cavus1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0001761HP:0001761Pes cavus1MYH7 CL E G H4625437572ORPHA1100224407577160760
HP:0001761HP:0001761Pes cavus1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM1100224407577160760
HP:0001761HP:0001761Pes cavus1NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM1251057737162230
HP:0001761HP:0001761Pes cavus1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM1443767739162280
HP:0001761HP:0001761Pes cavus1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM1443767739162280
HP:0001761HP:0001761Pes cavus1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM1443767739162280
HP:0001761HP:0001761Pes cavus1NIPA1 CL E G H123606100988ORPHA11748317043608145
HP:0001761HP:0001761Pes cavus1NIPA1 CL E G H123606600363Spastic paraplegia 6600363C1838192OMIM11748317043608145
HP:0001761HP:0001761Pes cavus1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM11408729176740
HP:0001761HP:0001761Pes cavus1PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM142088811300906
HP:0001761HP:0001761Pes cavus1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM1142809719600414
HP:0001761HP:0001761Pes cavus1PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM1531878860601757
HP:0001761HP:0001761Pes cavus1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM1531878860601757
HP:0001761HP:0001761Pes cavus1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM1371278940602026
HP:0001761HP:0001761Pes cavus1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM11256329105611101
HP:0001761HP:0001761Pes cavus1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13523009086300401
HP:0001761HP:0001761Pes cavus1PMP2 CL E G H5375618279618279618279OMIM13419117170715
HP:0001761HP:0001761Pes cavus1PMP22 CL E G H5376101081ORPHA11653379118601097
HP:0001761HP:0001761Pes cavus1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM11653379118601097
HP:0001761HP:0001761Pes cavus1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM11653379118601097
HP:0001761HP:0001761Pes cavus1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM11653379118601097
HP:0001761HP:0001761Pes cavus1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM11653379118601097
HP:0001761HP:0001761Pes cavus1PODXL CL E G H5420391411ORPHA112599171602632
HP:0001761HP:0001761Pes cavus1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0001761HP:0001761Pes cavus1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM130011969179174763
HP:0001761HP:0001761Pes cavus1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0001761HP:0001761Pes cavus1PRPS1 CL E G H563199014ORPHA1322599462311850
HP:0001761HP:0001761Pes cavus1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM1322599462311850
HP:0001761HP:0001761Pes cavus1PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM16269913797605725
HP:0001761HP:0001761Pes cavus1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM16269913797605725
HP:0001761HP:0001761Pes cavus1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM168326162617220
HP:0001761HP:0001761Pes cavus1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0001761HP:0001761Pes cavus1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM171259788602298
HP:0001761HP:0001761Pes cavus1REEP1 CL E G H65055101011ORPHA16122725786609139
HP:0001761HP:0001761Pes cavus1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM16122725786609139
HP:0001761HP:0001761Pes cavus1REEP2 CL E G H51308401849ORPHA153517975609347
HP:0001761HP:0001761Pes cavus1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0001761HP:0001761Pes cavus1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM1511310468603183
HP:0001761HP:0001761Pes cavus1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0001761HP:0001761Pes cavus1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1264119110519604490
HP:0001761HP:0001761Pes cavus1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM1297172135607697
HP:0001761HP:0001761Pes cavus1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM1216651445608465
HP:0001761HP:0001761Pes cavus1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1102109229427608206
HP:0001761HP:0001761Pes cavus1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM1191258157601978
HP:0001761HP:0001761Pes cavus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM11717425198610826
HP:0001761HP:0001761Pes cavus1SLC33A1 CL E G H9197612539Spastic paraplegia 42, autosomal dominant612539C2675528OMIM176095603690
HP:0001761HP:0001761Pes cavus1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM12016914025608761
HP:0001761HP:0001761Pes cavus1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0001761HP:0001761Pes cavus1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM115119211190602229
HP:0001761HP:0001761Pes cavus1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0001761HP:0001761Pes cavus1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0001761HP:0001761Pes cavus1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM111146011237602783
HP:0001761HP:0001761Pes cavus1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM11220811277605712
HP:0001761HP:0001761Pes cavus1SYNJ1 CL E G H8867391411ORPHA12745211503604297
HP:0001761HP:0001761Pes cavus1SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM133911510600104
HP:0001761HP:0001761Pes cavus1TDP1 CL E G H5577594124ORPHA1313718884607198
HP:0001761HP:0001761Pes cavus1TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM1313718884607198
HP:0001761HP:0001761Pes cavus1TH CL E G H7054101150ORPHA17734511782191290
HP:0001761HP:0001761Pes cavus1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
HP:0001761HP:0001761Pes cavus1TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM1816915974614141
HP:0001761HP:0001761Pes cavus1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM18253918083605427
HP:0001761HP:0001761Pes cavus1TTPA CL E G H727496ORPHA13014312404600415
HP:0001761HP:0001761Pes cavus1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM165912513191342
HP:0001761HP:0001761Pes cavus1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0001761HP:0001761Pes cavus1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM166412642185880
HP:0001761HP:0001761Pes cavus1VCP CL E G H7415435387ORPHA16526012666601023
HP:0001761HP:0001761Pes cavus1VCP CL E G H7415616687Charcot-Marie-Tooth disease, axonal, type 2y616687C4225244OMIM16526012666601023
HP:0001761HP:0001761Pes cavus1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM11165061908605978
HP:0001761HP:0001761Pes cavus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM11910323595608877
HP:0001761HP:0001761Pes cavus1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM12026828984610657
HP:0001761HP:0001761Pes cavus1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0001761HP:0001761Pes cavus1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0001761HP:0001761Pes cavus1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001761HP:0001761Pes cavus0AAAS CL E G H8086869ORPHA0799913666605378
HP:0001761HP:0001761Pes cavus0ACTA1 CL E G H58171439ORPHA0217272129102610
HP:0001761HP:0001761Pes cavus0AGRN CL E G H37579098914ORPHA018942329103320
HP:0001761HP:0001761Pes cavus0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913466211300836
HP:0001761HP:0001761Pes cavus0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM04436530213610513
HP:0001761HP:0001761Pes cavus0ATP1A3 CL E G H4781171ORPHA0122407801182350
HP:0001761HP:0001761Pes cavus0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0001761HP:0001761Pes cavus0B4GALNT1 CL E G H2583101006ORPHA013974117601873
HP:0001761HP:0001761Pes cavus0BIN1 CL E G H274169186ORPHA0173151052601248
HP:0001761HP:0001761Pes cavus0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM0173151052601248
HP:0001761HP:0001761Pes cavus0BSCL2 CL E G H26580139536ORPHA05026315832606158
HP:0001761HP:0001761Pes cavus0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM05026315832606158
HP:0001761HP:0001761Pes cavus0CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM018421476114220
HP:0001761HP:0001761Pes cavus0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA016626821616031
HP:0001761HP:0001761Pes cavus0CHAT CL E G H110398914ORPHA0773741912118490
HP:0001761HP:0001761Pes cavus0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0884126620626608892
HP:0001761HP:0001761Pes cavus0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM037629932609855
HP:0001761HP:0001761Pes cavus0COL13A1 CL E G H130598914ORPHA03682190120350
HP:0001761HP:0001761Pes cavus0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM03682190120350
HP:0001761HP:0001761Pes cavus0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM0631992652603711
HP:0001761HP:0001761Pes cavus0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411232701120470
HP:0001761HP:0001761Pes cavus0DHH CL E G H50846168563ORPHA018612865605423
HP:0001761HP:0001761Pes cavus0DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM051505228604139
HP:0001761HP:0001761Pes cavus0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05243072602748
HP:0001761HP:0001761Pes cavus0EED CL E G H87263447ORPHA09493188605984
HP:0001761HP:0001761Pes cavus0ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM0592633437133530
HP:0001761HP:0001761Pes cavus0EZH2 CL E G H21463447ORPHA0422353527601573
HP:0001761HP:0001761Pes cavus0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM0519528844608533
HP:0001761HP:0001761Pes cavus0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA034122788613301
HP:0001761HP:0001761Pes cavus0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM0101633671601515
HP:0001761HP:0001761Pes cavus0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05823673603725
HP:0001761HP:0001761Pes cavus0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041543686600483
HP:0001761HP:0001761Pes cavus0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653883688136350
HP:0001761HP:0001761Pes cavus0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07413762604808
HP:0001761HP:0001761Pes cavus0GARS CL E G H2617139536ORPHA0414162600287
HP:0001761HP:0001761Pes cavus0GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM0414162600287
HP:0001761HP:0001761Pes cavus0GBA2 CL E G H57704352641ORPHA02319418986609471
HP:0001761HP:0001761Pes cavus0GBA2 CL E G H57704320391ORPHA02319418986609471
HP:0001761HP:0001761Pes cavus0GMPPA CL E G H29926869ORPHA0127422923615495
HP:0001761HP:0001761Pes cavus0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM02694651189964
HP:0001761HP:0001761Pes cavus0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA0713024801600890
HP:0001761HP:0001761Pes cavus0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA0671484803143450
HP:0001761HP:0001761Pes cavus0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027464877601802
HP:0001761HP:0001761Pes cavus0HINT1 CL E G H3094324442ORPHA015824912601314
HP:0001761HP:0001761Pes cavus0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08335201604846
HP:0001761HP:0001761Pes cavus0HSPD1 CL E G H3329100994ORPHA061285261118190
HP:0001761HP:0001761Pes cavus0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0144917616606807
HP:0001761HP:0001761Pes cavus0KBTBD13 CL E G H390594171439ORPHA01126037227613727
HP:0001761HP:0001761Pes cavus0KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0001761HP:0001761Pes cavus0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039784510604161
HP:0001761HP:0001761Pes cavus0KLHL41 CL E G H10324171439ORPHA099816905607701
HP:0001761HP:0001761Pes cavus0LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM0281726518600024
HP:0001761HP:0001761Pes cavus0MRE11 CL E G H4361251347ORPHA05711047230600814
HP:0001761HP:0001761Pes cavus0MYO9A CL E G H464998914ORPHA06957608604875
HP:0001761HP:0001761Pes cavus0MYPN CL E G H84665171439ORPHA04666423246608517
HP:0001761HP:0001761Pes cavus0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM04666423246608517
HP:0001761HP:0001761Pes cavus0NEB CL E G H4703171439ORPHA032130107720161650
HP:0001761HP:0001761Pes cavus0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA014248816400606416
HP:0001761HP:0001761Pes cavus0NSD1 CL E G H643243447ORPHA052589614234606681
HP:0001761HP:0001761Pes cavus0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0910429843608137
HP:0001761HP:0001761Pes cavus0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM0726025994610916
HP:0001761HP:0001761Pes cavus0OPA3 CL E G H8020767036ORPHA0153188142606580
HP:0001761HP:0001761Pes cavus0PEX10 CL E G H5192247815ORPHA0323478851602859
HP:0001761HP:0001761Pes cavus0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM0323478851602859
HP:0001761HP:0001761Pes cavus0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM0182089717170993
HP:0001761HP:0001761Pes cavus0PEX7 CL E G H5191773ORPHA0531878860601757
HP:0001761HP:0001761Pes cavus0PHYH CL E G H5264773ORPHA0371278940602026
HP:0001761HP:0001761Pes cavus0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0001761HP:0001761Pes cavus0PMP22 CL E G H5376640ORPHA01653379118601097
HP:0001761HP:0001761Pes cavus0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM089618667613036
HP:0001761HP:0001761Pes cavus0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0213418455607002
HP:0001761HP:0001761Pes cavus0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0839815836607123
HP:0001761HP:0001761Pes cavus0REEP1 CL E G H65055139536ORPHA06122725786609139
HP:0001761HP:0001761Pes cavus0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM06122725786609139
HP:0001761HP:0001761Pes cavus0REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM053517975609347
HP:0001761HP:0001761Pes cavus0RYR1 CL E G H6261169186ORPHA0688309410483180901
HP:0001761HP:0001761Pes cavus0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA0318210723603961
HP:0001761HP:0001761Pes cavus0SETX CL E G H23064357043ORPHA0216651445608465
HP:0001761HP:0001761Pes cavus0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0216651445608465
HP:0001761HP:0001761Pes cavus0SIN3A CL E G H2594294065ORPHA01611619353607776
HP:0001761HP:0001761Pes cavus0SLC18A3 CL E G H657298914ORPHA068910936600336
HP:0001761HP:0001761Pes cavus0SLC25A1 CL E G H657698914ORPHA02442910979190315
HP:0001761HP:0001761Pes cavus0SLC5A7 CL E G H6048298914ORPHA02016914025608761
HP:0001761HP:0001761Pes cavus0SNAP25 CL E G H661698914ORPHA076411132600322
HP:0001761HP:0001761Pes cavus0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015119211190602229
HP:0001761HP:0001761Pes cavus0SPART CL E G H23111101000ORPHA0718318514607111
HP:0001761HP:0001761Pes cavus0SPAST CL E G H6683100985ORPHA072757211233604277
HP:0001761HP:0001761Pes cavus0SPEG CL E G H10290169186ORPHA01319816901615950
HP:0001761HP:0001761Pes cavus0SPG11 CL E G H80208616668Charcot-Marie-Tooth disease, axonal type 2X616668C4225253OMIM0293106511226610844
HP:0001761HP:0001761Pes cavus0SPG7 CL E G H668799013ORPHA011146011237602783
HP:0001761HP:0001761Pes cavus0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA0113315533607984
HP:0001761HP:0001761Pes cavus0SUZ12 CL E G H235123447ORPHA037217101606245
HP:0001761HP:0001761Pes cavus0SYT2 CL E G H12783398914ORPHA033911510600104
HP:0001761HP:0001761Pes cavus0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA0377911528162332
HP:0001761HP:0001761Pes cavus0TPM2 CL E G H7169171439ORPHA04019912011190990
HP:0001761HP:0001761Pes cavus0TPM3 CL E G H7170171439ORPHA02822512012191030
HP:0001761HP:0001761Pes cavus0TRAPPC11 CL E G H60684869ORPHA01735125751614138
HP:0001761HP:0001761Pes cavus0TTN CL E G H7273169186ORPHA03461438512403188840
HP:0001761HP:0001761Pes cavus0TWNK CL E G H56652616138Perrault syndrome 5616138C4015307OMIM0831941160606075
HP:0001761HP:0001761Pes cavus0VAMP1 CL E G H684398914ORPHA066412642185880
HP:0001761HP:0001761Pes cavus0VAMP1 CL E G H6843251282ORPHA066412642185880
HP:0001761HP:0001761Pes cavus0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA0189113831606417
HP:0001761HP:0001761Pes cavus0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM0153712831194363
HP:0001761HP:0001761Pes cavus0ZFYVE26 CL E G H23503100996ORPHA04570020761612012
HP:0001761HP:0001761Pes cavus1AAAS CL E G H8086869ORPHA0799913666605378
HP:0001761HP:0001761Pes cavus1ACTA1 CL E G H58171439ORPHA0217272129102610
HP:0001761HP:0001761Pes cavus1AGRN CL E G H37579098914ORPHA018942329103320
HP:0001761HP:0001761Pes cavus1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913466211300836
HP:0001761HP:0001761Pes cavus1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM04436530213610513
HP:0001761HP:0001761Pes cavus1ATP1A3 CL E G H4781171ORPHA0122407801182350
HP:0001761HP:0001761Pes cavus1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0001761HP:0001761Pes cavus1B4GALNT1 CL E G H2583101006ORPHA013974117601873
HP:0001761HP:0001761Pes cavus1BIN1 CL E G H274169186ORPHA0173151052601248
HP:0001761HP:0001761Pes cavus1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM0173151052601248
HP:0001761HP:0001761Pes cavus1BSCL2 CL E G H26580139536ORPHA05026315832606158
HP:0001761HP:0001761Pes cavus1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM05026315832606158
HP:0001761HP:0001761Pes cavus1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM018421476114220
HP:0001761HP:0001761Pes cavus1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA016626821616031
HP:0001761HP:0001761Pes cavus1CHAT CL E G H110398914ORPHA0773741912118490
HP:0001761HP:0001761Pes cavus1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0884126620626608892
HP:0001761HP:0001761Pes cavus1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM037629932609855
HP:0001761HP:0001761Pes cavus1COL13A1 CL E G H130598914ORPHA03682190120350
HP:0001761HP:0001761Pes cavus1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM03682190120350
HP:0001761HP:0001761Pes cavus1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM0631992652603711
HP:0001761HP:0001761Pes cavus1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411232701120470
HP:0001761HP:0001761Pes cavus1DHH CL E G H50846168563ORPHA018612865605423
HP:0001761HP:0001761Pes cavus1DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM051505228604139
HP:0001761HP:0001761Pes cavus1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05243072602748
HP:0001761HP:0001761Pes cavus1EED CL E G H87263447ORPHA09493188605984
HP:0001761HP:0001761Pes cavus1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM0592633437133530
HP:0001761HP:0001761Pes cavus1EZH2 CL E G H21463447ORPHA0422353527601573
HP:0001761HP:0001761Pes cavus1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM0519528844608533
HP:0001761HP:0001761Pes cavus1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA034122788613301
HP:0001761HP:0001761Pes cavus1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM0101633671601515
HP:0001761HP:0001761Pes cavus1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05823673603725
HP:0001761HP:0001761Pes cavus1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041543686600483
HP:0001761HP:0001761Pes cavus1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653883688136350
HP:0001761HP:0001761Pes cavus1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07413762604808
HP:0001761HP:0001761Pes cavus1GARS CL E G H2617139536ORPHA0414162600287
HP:0001761HP:0001761Pes cavus1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM0414162600287
HP:0001761HP:0001761Pes cavus1GBA2 CL E G H57704352641ORPHA02319418986609471
HP:0001761HP:0001761Pes cavus1GBA2 CL E G H57704320391ORPHA02319418986609471
HP:0001761HP:0001761Pes cavus1GMPPA CL E G H29926869ORPHA0127422923615495
HP:0001761HP:0001761Pes cavus1GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM02694651189964
HP:0001761HP:0001761Pes cavus1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA0713024801600890
HP:0001761HP:0001761Pes cavus1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA0671484803143450
HP:0001761HP:0001761Pes cavus1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027464877601802
HP:0001761HP:0001761Pes cavus1HINT1 CL E G H3094324442ORPHA015824912601314
HP:0001761HP:0001761Pes cavus1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08335201604846
HP:0001761HP:0001761Pes cavus1HSPD1 CL E G H3329100994ORPHA061285261118190
HP:0001761HP:0001761Pes cavus1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0144917616606807
HP:0001761HP:0001761Pes cavus1KBTBD13 CL E G H390594171439ORPHA01126037227613727
HP:0001761HP:0001761Pes cavus1KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0001761HP:0001761Pes cavus1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039784510604161
HP:0001761HP:0001761Pes cavus1KLHL41 CL E G H10324171439ORPHA099816905607701
HP:0001761HP:0001761Pes cavus1LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM0281726518600024
HP:0001761HP:0001761Pes cavus1MRE11 CL E G H4361251347ORPHA05711047230600814
HP:0001761HP:0001761Pes cavus1MYO9A CL E G H464998914ORPHA06957608604875
HP:0001761HP:0001761Pes cavus1MYPN CL E G H84665171439ORPHA04666423246608517
HP:0001761HP:0001761Pes cavus1MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM04666423246608517
HP:0001761HP:0001761Pes cavus1NEB CL E G H4703171439ORPHA032130107720161650
HP:0001761HP:0001761Pes cavus1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA014248816400606416
HP:0001761HP:0001761Pes cavus1NSD1 CL E G H643243447ORPHA052589614234606681
HP:0001761HP:0001761Pes cavus1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0910429843608137
HP:0001761HP:0001761Pes cavus1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM0726025994610916
HP:0001761HP:0001761Pes cavus1OPA3 CL E G H8020767036ORPHA0153188142606580
HP:0001761HP:0001761Pes cavus1PEX10 CL E G H5192247815ORPHA0323478851602859
HP:0001761HP:0001761Pes cavus1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM0323478851602859
HP:0001761HP:0001761Pes cavus1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM0182089717170993
HP:0001761HP:0001761Pes cavus1PEX7 CL E G H5191773ORPHA0531878860601757
HP:0001761HP:0001761Pes cavus1PHYH CL E G H5264773ORPHA0371278940602026
HP:0001761HP:0001761Pes cavus1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0001761HP:0001761Pes cavus1PMP22 CL E G H5376640ORPHA01653379118601097
HP:0001761HP:0001761Pes cavus1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM089618667613036
HP:0001761HP:0001761Pes cavus1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0213418455607002
HP:0001761HP:0001761Pes cavus1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0839815836607123
HP:0001761HP:0001761Pes cavus1REEP1 CL E G H65055139536ORPHA06122725786609139
HP:0001761HP:0001761Pes cavus1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM06122725786609139
HP:0001761HP:0001761Pes cavus1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM053517975609347
HP:0001761HP:0001761Pes cavus1RYR1 CL E G H6261169186ORPHA0688309410483180901
HP:0001761HP:0001761Pes cavus1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA0318210723603961
HP:0001761HP:0001761Pes cavus1SETX CL E G H23064357043ORPHA0216651445608465
HP:0001761HP:0001761Pes cavus1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0216651445608465
HP:0001761HP:0001761Pes cavus1SIN3A CL E G H2594294065ORPHA01611619353607776
HP:0001761HP:0001761Pes cavus1SLC18A3 CL E G H657298914ORPHA068910936600336
HP:0001761HP:0001761Pes cavus1SLC25A1 CL E G H657698914ORPHA02442910979190315
HP:0001761HP:0001761Pes cavus1SLC5A7 CL E G H6048298914ORPHA02016914025608761
HP:0001761HP:0001761Pes cavus1SNAP25 CL E G H661698914ORPHA076411132600322
HP:0001761HP:0001761Pes cavus1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015119211190602229
HP:0001761HP:0001761Pes cavus1SPART CL E G H23111101000ORPHA0718318514607111
HP:0001761HP:0001761Pes cavus1SPAST CL E G H6683100985ORPHA072757211233604277
HP:0001761HP:0001761Pes cavus1SPEG CL E G H10290169186ORPHA01319816901615950
HP:0001761HP:0001761Pes cavus1SPG11 CL E G H80208616668Charcot-Marie-Tooth disease, axonal type 2X616668C4225253OMIM0293106511226610844
HP:0001761HP:0001761Pes cavus1SPG7 CL E G H668799013ORPHA011146011237602783
HP:0001761HP:0001761Pes cavus1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA0113315533607984
HP:0001761HP:0001761Pes cavus1SUZ12 CL E G H235123447ORPHA037217101606245
HP:0001761HP:0001761Pes cavus1SYT2 CL E G H12783398914ORPHA033911510600104
HP:0001761HP:0001761Pes cavus1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA0377911528162332
HP:0001761HP:0001761Pes cavus1TPM2 CL E G H7169171439ORPHA04019912011190990
HP:0001761HP:0001761Pes cavus1TPM3 CL E G H7170171439ORPHA02822512012191030
HP:0001761HP:0001761Pes cavus1TRAPPC11 CL E G H60684869ORPHA01735125751614138
HP:0001761HP:0001761Pes cavus1TTN CL E G H7273169186ORPHA03461438512403188840
HP:0001761HP:0001761Pes cavus1TWNK CL E G H56652616138Perrault syndrome 5616138C4015307OMIM0831941160606075
HP:0001761HP:0001761Pes cavus1VAMP1 CL E G H684398914ORPHA066412642185880
HP:0001761HP:0001761Pes cavus1VAMP1 CL E G H6843251282ORPHA066412642185880
HP:0001761HP:0001761Pes cavus1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA0189113831606417
HP:0001761HP:0001761Pes cavus1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM0153712831194363
HP:0001761HP:0001761Pes cavus1ZFYVE26 CL E G H23503100996ORPHA04570020761612012


Genes (209) :AAAS AARS ABHD12 ACTA1 AGRN AIFM1 ALDH18A1 ALS2 ANO10 ANOS1 APTX ATL1 ATP13A2 ATP1A3 ATP6V1B2 ATP7A B3GLCT B4GALNT1 BAG3 BIN1 BSCL2 C19ORF12 C19orf12 CAPN1 CAV3 CCDC141 CHAT CHCHD10 CHD7 CHMP1A COASY COL13A1 COQ8A COX6A1 CPT1C CTDP1 CUL4B CYP7B1 DCAF8 DCC DDHD1 DHH DNAJB2 DNAJC6 DNM2 DUSP6 DYNC1H1 EED EGR2 ERCC5 ERLIN2 EZH2 FBLN5 FBN1 FBXO38 FEZF1 FGD4 FGF14 FGF17 FGF8 FGFR1 FHL1 FLRT1 FLRT3 FXN GAN GARS GBA GBA2 GCH1 GDAP1 GJB1 GJB2 GJC2 GMPPA GNB4 GTF2E2 HADHA HADHB HARS HDAC8 HESX1 HINT1 HS6ST1 HSD17B4 HSPB1 HSPB8 HSPD1 IBA57 IDS IDUA IFIH1 IFRD1 IL17RD INF2 IQSEC2 KARS KBTBD13 KCNH1 KIF1B KIF5A KISS1R KLC2 KLHL41 L1CAM LAMP2 LAS1L LBR LITAF LMNA LRSAM1 MAFB MECP2 MFN2 MME MMP2 MORC2 MPZ MRE11 MSTO1 MYH7 MYO9A MYPN NEB NEFH NEFL NIPA1 NLRP3 NSD1 NSMF NSUN2 OPA3 PCNA PDK3 PEX10 PEX2 PEX5 PEX7 PHYH PIGN PLEKHG5 PLP1 PMP2 PMP22 PMPCA PODXL POLG PQBP1 PROK2 PROKR2 PRPS1 PRX PYROXD1 RAB11B RAB7A REEP1 REEP2 RET RTN2 RUSC2 RYR1 SACS SBF2 SEMA3A SETX SH3TC2 SIGMAR1 SIN3A SLC18A3 SLC25A1 SLC25A46 SLC33A1 SLC5A7 SLC6A8 SNAP25 SOX10 SPART SPAST SPEG SPG11 SPG7 SPRY4 SPTLC1 SUZ12 SYNJ1 SYT2 TACR3 TDP1 TH TPM2 TPM3 TRAPPC11 TRIM2 TRPV4 TTN TTPA TWNK UCHL1 USP9X VAMP1 VCP VPS13A VPS13D WASHC5 WDR11 WDR73 XRCC4 ZBTB20 ZFYVE26

Diseases (233) :869 613287 612674 171439 161800 98914 101078 447753 601162 607225 284289 613728 478 308700 208920 613708 182600 617225 1171 601338 3473 300489 261540 101006 609195 612954 169186 255200 139536 600794 270685 320370 614298 615043 488594 616907 614321 615048 614961 615643 616720 612016 616039 604168 85293 300354 100986 270800 610100 101008 609340 168563 614881 391411 606482 614228 3447 145900 278780 611225 277590 608895 154700 615575 609311 98764 609307 320406 95 229300 643 256850 601472 231005 320391 352641 614409 98808 128230 607706 608340 101075 1175 302800 602540 148210 320401 613206 615185 616943 746 488333 616625 3459 324442 233400 606595 608673 100994 468661 309900 607016 182250 98771 614455 217377 613641 118210 604187 609541 303350 300257 309585 169400 601098 605588 614436 166300 300055 99947 617087 609260 601152 497764 617018 259600 616688 607677 607736 118200 180800 251347 502423 617675 437572 160500 617336 616924 607684 607734 617882 100988 600363 575 611091 67036 615919 300905 247815 614871 614867 616716 773 614879 266500 280633 615376 312920 618279 640 101081 118300 118220 213200 157640 258450 309500 99014 311070 614895 617258 617807 600882 101011 614751 610250 401849 615625 162300 604805 617773 270550 604563 357043 602433 606002 601596 605726 94065 616505 612539 158580 300352 609136 101000 275900 100985 616668 604360 99013 607259 162400 616040 94124 607250 101150 609284 615490 606071 96 616138 615491 300968 251282 108600 435387 616687 200150 607317 603563 251300 616541 259050 100996 270700 447757 513436 488650 444099 300280 100993 171863 100989
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.