Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lower limb (HP:0002814)help
Parent Node:
expand
Abnormality of the foot (HP:0001760)help
..Starting node
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Pes planus (HP:0001763)help
Term ID: 1763
Name: Pes planus
Synonym: Dropped arches; Fallen arches; Flat feet; Flat foot
Definition: A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Comments:
Reference: HP:0001763
Genes and Diseases:
 
       Child Nodes:

 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 cavus (HP:0001761) 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:0001763HP:0001763Pes planus0AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1440303602981
HP:0001763HP:0001763Pes planus0ALG14 CL E G H199857353327ORPHA165228287612866
HP:0001763HP:0001763Pes planus0ALG2 CL E G H85365353327ORPHA1515323159607905
HP:0001763HP:0001763Pes planus0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0001763HP:0001763Pes planus0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0001763HP:0001763Pes planus0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0001763HP:0001763Pes planus0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0001763HP:0001763Pes planus0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0001763HP:0001763Pes planus0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0001763HP:0001763Pes planus0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0001763HP:0001763Pes planus0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0001763HP:0001763Pes planus0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0001763HP:0001763Pes planus0B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0001763HP:0001763Pes planus0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0001763HP:0001763Pes planus0B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0001763HP:0001763Pes planus0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0001763HP:0001763Pes planus0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0001763HP:0001763Pes planus0BCR CL E G H613261330ORPHA122111014151410
HP:0001763HP:0001763Pes planus0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0001763HP:0001763Pes planus0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM11834317342300553
HP:0001763HP:0001763Pes planus0C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0001763HP:0001763Pes planus0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0001763HP:0001763Pes planus0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0001763HP:0001763Pes planus0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12716315559615903
HP:0001763HP:0001763Pes planus0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0001763HP:0001763Pes planus0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0001763HP:0001763Pes planus0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0001763HP:0001763Pes planus0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM15237942198120160
HP:0001763HP:0001763Pes planus0COL1A2 CL E G H1278225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form225320C1857034OMIM15237942198120160
HP:0001763HP:0001763Pes planus0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM15707312200120140
HP:0001763HP:0001763Pes planus0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0001763HP:0001763Pes planus0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001763HP:0001763Pes planus0CRKL CL E G H1399261330ORPHA1163762363602007
HP:0001763HP:0001763Pes planus0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137562364604237
HP:0001763HP:0001763Pes planus0CTSC CL E G H1075245010Haim-Munk syndrome245010C1855627OMIM1961402528602365
HP:0001763HP:0001763Pes planus0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0001763HP:0001763Pes planus0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA185017748607861
HP:0001763HP:0001763Pes planus0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0001763HP:0001763Pes planus0DPAGT1 CL E G H1798353327ORPHA1421572995191350
HP:0001763HP:0001763Pes planus0DPM3 CL E G H54344263494ORPHA12413007605951
HP:0001763HP:0001763Pes planus0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0001763HP:0001763Pes planus0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001763HP:0001763Pes planus0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0001763HP:0001763Pes planus0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM1272142843603134797
HP:0001763HP:0001763Pes planus0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0001763HP:0001763Pes planus0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0001763HP:0001763Pes planus0FKBP14 CL E G H55033300179ORPHA168618625614505
HP:0001763HP:0001763Pes planus0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM168618625614505
HP:0001763HP:0001763Pes planus0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0001763HP:0001763Pes planus0FLII CL E G H2314819ORPHA121533750600362
HP:0001763HP:0001763Pes planus0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0001763HP:0001763Pes planus0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11225203755603381
HP:0001763HP:0001763Pes planus0FMR1 CL E G H2332908ORPHA1812813775309550
HP:0001763HP:0001763Pes planus0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0001763HP:0001763Pes planus0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0001763HP:0001763Pes planus0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM1804354137605379
HP:0001763HP:0001763Pes planus0GDF5 CL E G H8200615298Symphalangism, proximal, 1b615298C3809104OMIM159984220601146
HP:0001763HP:0001763Pes planus0GDF6 CL E G H392255617898MULTIPLE SYNOSTOSES SYNDROME 4617898CN842246OMIM1211654221601147
HP:0001763HP:0001763Pes planus0GFPT1 CL E G H2673353327ORPHA1502924241138292
HP:0001763HP:0001763Pes planus0GMPPB CL E G H29925353327ORPHA14915122932615320
HP:0001763HP:0001763Pes planus0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12774588602717
HP:0001763HP:0001763Pes planus0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM1201184593604473
HP:0001763HP:0001763Pes planus0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0001763HP:0001763Pes planus0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0001763HP:0001763Pes planus0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0001763HP:0001763Pes planus0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0001763HP:0001763Pes planus0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0001763HP:0001763Pes planus0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0001763HP:0001763Pes planus0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0001763HP:0001763Pes planus0IQSEC2 CL E G H23096217377ORPHA15753929059300522
HP:0001763HP:0001763Pes planus0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0001763HP:0001763Pes planus0LAS1L CL E G H818873459ORPHA1417225726300964
HP:0001763HP:0001763Pes planus0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0001763HP:0001763Pes planus0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0001763HP:0001763Pes planus0LMNA CL E G H400079474ORPHA157411526636150330
HP:0001763HP:0001763Pes planus0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953046654602575
HP:0001763HP:0001763Pes planus0MAPK1 CL E G H5594261330ORPHA131126871176948
HP:0001763HP:0001763Pes planus0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0001763HP:0001763Pes planus0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM1271487166120360
HP:0001763HP:0001763Pes planus0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0001763HP:0001763Pes planus0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0001763HP:0001763Pes planus0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0001763HP:0001763Pes planus0PEX6 CL E G H5190616617Heimler syndrome 2616617C4225267OMIM11093758859601498
HP:0001763HP:0001763Pes planus0PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM11620820672300560
HP:0001763HP:0001763Pes planus0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0001763HP:0001763Pes planus0PROKR2 CL E G H128674244200Kallmann syndrome 3244200C2930927OMIM1839815836607123
HP:0001763HP:0001763Pes planus0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM168326162617220
HP:0001763HP:0001763Pes planus0RAB33B CL E G H83452615222Smith-McCort dysplasia 2615222C3714896OMIM1711116075605950
HP:0001763HP:0001763Pes planus0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM171259788602298
HP:0001763HP:0001763Pes planus0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0001763HP:0001763Pes planus0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM11164049834607642
HP:0001763HP:0001763Pes planus0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0001763HP:0001763Pes planus0RIN2 CL E G H54453217335ORPHA1415518750610222
HP:0001763HP:0001763Pes planus0RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM1415518750610222
HP:0001763HP:0001763Pes planus0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0001763HP:0001763Pes planus0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0001763HP:0001763Pes planus0RYR1 CL E G H6261597ORPHA1688309410483180901
HP:0001763HP:0001763Pes planus0RYR1 CL E G H6261117000117000117000OMIM1688309410483180901
HP:0001763HP:0001763Pes planus0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA18818210524602218
HP:0001763HP:0001763Pes planus0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0001763HP:0001763Pes planus0SBF1 CL E G H6305615284Charcot-Marie-Tooth disease, type 4B3615284C3695063OMIM11430310542603560
HP:0001763HP:0001763Pes planus0SCO2 CL E G H9997521411ORPHA13727510604604272
HP:0001763HP:0001763Pes planus0SEC23A CL E G H1048450814ORPHA144810701610511
HP:0001763HP:0001763Pes planus0SEC23A CL E G H10484607812Craniolenticulosutural dysplasia607812C1843042OMIM144810701610511
HP:0001763HP:0001763Pes planus0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM14916724624608005
HP:0001763HP:0001763Pes planus0SKI CL E G H64972462ORPHA12450210896164780
HP:0001763HP:0001763Pes planus0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0001763HP:0001763Pes planus0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18825710923300095
HP:0001763HP:0001763Pes planus0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0001763HP:0001763Pes planus0SMAD3 CL E G H4088284984ORPHA1955926769603109
HP:0001763HP:0001763Pes planus0SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM134625356616086
HP:0001763HP:0001763Pes planus0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0001763HP:0001763Pes planus0TBX4 CL E G H9496147891Ischiopatellar dysplasia147891C1840061OMIM15913511603601719
HP:0001763HP:0001763Pes planus0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0001763HP:0001763Pes planus0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0001763HP:0001763Pes planus0TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM14334111768190220
HP:0001763HP:0001763Pes planus0TGFBR1 CL E G H704660030ORPHA17954111772190181
HP:0001763HP:0001763Pes planus0TGFBR2 CL E G H704860030ORPHA114857211773190182
HP:0001763HP:0001763Pes planus0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0001763HP:0001763Pes planus0TNXB CL E G H7148285Impossible syndromeORPHA13824411976600985
HP:0001763HP:0001763Pes planus0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114222112340604386
HP:0001763HP:0001763Pes planus0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM18253918083605427
HP:0001763HP:0001763Pes planus0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM12619312472312180
HP:0001763HP:0001763Pes planus0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM165912513191342
HP:0001763HP:0001763Pes planus0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM12837412698192977
HP:0001763HP:0001763Pes planus0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0001763HP:0001763Pes planus0XYLT2 CL E G H6413285194ORPHA1135715517608125
HP:0001763HP:0001763Pes planus0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0001763HP:0001763Pes planus0ZDHHC9 CL E G H51114300799Mental retardation, X-linked, syndromic, Raymond type300799C3275406OMIM11423918475300646
HP:0001763HP:0001763Pes planus0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001763HP:0001763Pes planus0ACTA2 CL E G H5991387ORPHA083290130102620
HP:0001763HP:0001763Pes planus0AGA CL E G H17593ORPHA038239318613228
HP:0001763HP:0001763Pes planus0AHCY CL E G H19188618ORPHA01594343180960
HP:0001763HP:0001763Pes planus0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM0515323159607905
HP:0001763HP:0001763Pes planus0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913466211300836
HP:0001763HP:0001763Pes planus0AP4B1 CL E G H10717280763ORPHA021140572607245
HP:0001763HP:0001763Pes planus0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM021140572607245
HP:0001763HP:0001763Pes planus0AP4E1 CL E G H23431280763ORPHA018178573607244
HP:0001763HP:0001763Pes planus0AP4M1 CL E G H9179280763ORPHA015150574602296
HP:0001763HP:0001763Pes planus0AP4S1 CL E G H11154280763ORPHA0859575607243
HP:0001763HP:0001763Pes planus0ATP6V1B2 CL E G H52679499ORPHA0493854606939
HP:0001763HP:0001763Pes planus0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0001763HP:0001763Pes planus0ATP7A CL E G H538198ORPHA0357607869300011
HP:0001763HP:0001763Pes planus0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM04023217978615291
HP:0001763HP:0001763Pes planus0BGN CL E G H633300989Meester-loeys syndrome300989C4310811OMIM092261044301870
HP:0001763HP:0001763Pes planus0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0001763HP:0001763Pes planus0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0001763HP:0001763Pes planus0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0001763HP:0001763Pes planus0BSCL2 CL E G H26580100998ORPHA05026315832606158
HP:0001763HP:0001763Pes planus0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM05026315832606158
HP:0001763HP:0001763Pes planus0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA016626821616031
HP:0001763HP:0001763Pes planus0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM02025229298613529
HP:0001763HP:0001763Pes planus0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0884126620626608892
HP:0001763HP:0001763Pes planus0COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0001763HP:0001763Pes planus0COL2A1 CL E G H128093315ORPHA05707312200120140
HP:0001763HP:0001763Pes planus0COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0001763HP:0001763Pes planus0COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0001763HP:0001763Pes planus0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0001763HP:0001763Pes planus0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411232701120470
HP:0001763HP:0001763Pes planus0DMD CL E G H175698895ORPHA0397037602928300377
HP:0001763HP:0001763Pes planus0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05243072602748
HP:0001763HP:0001763Pes planus0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM03712421317607461
HP:0001763HP:0001763Pes planus0ELN CL E G H200691387ORPHA01275233327130160
HP:0001763HP:0001763Pes planus0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0001763HP:0001763Pes planus0FANCA CL E G H217584ORPHA068917063582607139
HP:0001763HP:0001763Pes planus0FANCB CL E G H218784ORPHA0213523583300515
HP:0001763HP:0001763Pes planus0FANCC CL E G H217684ORPHA0658823584613899
HP:0001763HP:0001763Pes planus0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0001763HP:0001763Pes planus0FANCE CL E G H217884ORPHA0172013586613976
HP:0001763HP:0001763Pes planus0FANCF CL E G H218884ORPHA0162023587613897
HP:0001763HP:0001763Pes planus0FANCG CL E G H218984ORPHA0923253588602956
HP:0001763HP:0001763Pes planus0FANCI CL E G H5521584ORPHA04552125568611360
HP:0001763HP:0001763Pes planus0FANCL CL E G H5512084ORPHA02417620748608111
HP:0001763HP:0001763Pes planus0FANCM CL E G H5769784ORPHA05369723168609644
HP:0001763HP:0001763Pes planus0FBN1 CL E G H220091387ORPHA0272142843603134797
HP:0001763HP:0001763Pes planus0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA034122788613301
HP:0001763HP:0001763Pes planus0FGD1 CL E G H2245915ORPHA0512763663300546
HP:0001763HP:0001763Pes planus0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05823673603725
HP:0001763HP:0001763Pes planus0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041543686600483
HP:0001763HP:0001763Pes planus0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653883688136350
HP:0001763HP:0001763Pes planus0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM02293705608296
HP:0001763HP:0001763Pes planus0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07413762604808
HP:0001763HP:0001763Pes planus0FN1 CL E G H233593315ORPHA0261283778135600
HP:0001763HP:0001763Pes planus0FOXE3 CL E G H230191387ORPHA031863808601094
HP:0001763HP:0001763Pes planus0GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM0414162600287
HP:0001763HP:0001763Pes planus0GATA4 CL E G H2626251071ORPHA01713414173600576
HP:0001763HP:0001763Pes planus0GORAB CL E G H923442078ORPHA01610825676607983
HP:0001763HP:0001763Pes planus0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027464877601802
HP:0001763HP:0001763Pes planus0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08335201604846
HP:0001763HP:0001763Pes planus0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0144917616606807
HP:0001763HP:0001763Pes planus0KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0001763HP:0001763Pes planus0KIF22 CL E G H383593360ORPHA042726391603213
HP:0001763HP:0001763Pes planus0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039784510604161
HP:0001763HP:0001763Pes planus0LOX CL E G H401591387ORPHA09676664153455
HP:0001763HP:0001763Pes planus0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM09426758604357
HP:0001763HP:0001763Pes planus0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0001763HP:0001763Pes planus0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM04606891605789
HP:0001763HP:0001763Pes planus0MAT2A CL E G H414491387ORPHA02846904601468
HP:0001763HP:0001763Pes planus0METTL23 CL E G H124512615942Mental retardation, autosomal recessive 44615942C4014745OMIM054026988615262
HP:0001763HP:0001763Pes planus0MFAP5 CL E G H807691387ORPHA038229673601103
HP:0001763HP:0001763Pes planus0MYH11 CL E G H462991387ORPHA06919907569160745
HP:0001763HP:0001763Pes planus0MYH7 CL E G H4625324604ORPHA0100224407577160760
HP:0001763HP:0001763Pes planus0MYH7 CL E G H4625437572ORPHA0100224407577160760
HP:0001763HP:0001763Pes planus0MYLK CL E G H463891387ORPHA0438927590600922
HP:0001763HP:0001763Pes planus0MYPN CL E G H84665171881ORPHA04666423246608517
HP:0001763HP:0001763Pes planus0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0910429843608137
HP:0001763HP:0001763Pes planus0PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0001763HP:0001763Pes planus0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM03232926270613629
HP:0001763HP:0001763Pes planus0PRDM5 CL E G H1110790354ORPHA0131319349614161
HP:0001763HP:0001763Pes planus0PRKG1 CL E G H559291387ORPHA062739414176894
HP:0001763HP:0001763Pes planus0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0213418455607002
HP:0001763HP:0001763Pes planus0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0839815836607123
HP:0001763HP:0001763Pes planus0PUF60 CL E G H22827508488ORPHA03212917042604819
HP:0001763HP:0001763Pes planus0PYCR1 CL E G H58312078ORPHA0411449721179035
HP:0001763HP:0001763Pes planus0RAD51 CL E G H588884ORPHA016369817179617
HP:0001763HP:0001763Pes planus0RAD51C CL E G H588984ORPHA013111309820602774
HP:0001763HP:0001763Pes planus0RFWD3 CL E G H5515984ORPHA024925539614151
HP:0001763HP:0001763Pes planus0SELENON CL E G H57190324604ORPHA06335415999606210
HP:0001763HP:0001763Pes planus0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA0318210723603961
HP:0001763HP:0001763Pes planus0SLC29A3 CL E G H55315168569ORPHA02619023096612373
HP:0001763HP:0001763Pes planus0SLX4 CL E G H8446484ORPHA07281823845613278
HP:0001763HP:0001763Pes planus0SMAD3 CL E G H408891387ORPHA0955926769603109
HP:0001763HP:0001763Pes planus0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM0955926769603109
HP:0001763HP:0001763Pes planus0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015119211190602229
HP:0001763HP:0001763Pes planus0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM02914611201604975
HP:0001763HP:0001763Pes planus0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA0113315533607984
HP:0001763HP:0001763Pes planus0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA0377911528162332
HP:0001763HP:0001763Pes planus0TBX4 CL E G H9496261279ORPHA05913511603601719
HP:0001763HP:0001763Pes planus0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0001763HP:0001763Pes planus0TGFB2 CL E G H704291387ORPHA04334111768190220
HP:0001763HP:0001763Pes planus0TGFB3 CL E G H704391387ORPHA03425311769190230
HP:0001763HP:0001763Pes planus0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM03425311769190230
HP:0001763HP:0001763Pes planus0TGFBR1 CL E G H704691387ORPHA07954111772190181
HP:0001763HP:0001763Pes planus0TGFBR2 CL E G H704891387ORPHA014857211773190182
HP:0001763HP:0001763Pes planus0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM053318188614123
HP:0001763HP:0001763Pes planus0TPM2 CL E G H7169171881ORPHA04019912011190990
HP:0001763HP:0001763Pes planus0TPM3 CL E G H7170171881ORPHA02822512012191030
HP:0001763HP:0001763Pes planus0TTN CL E G H7273324604ORPHA03461438512403188840
HP:0001763HP:0001763Pes planus0UBE2T CL E G H2908984ORPHA071825009610538
HP:0001763HP:0001763Pes planus0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA0189113831606417
HP:0001763HP:0001763Pes planus0XRCC2 CL E G H751684ORPHA02335812829600375
HP:0001763HP:0001763Pes planus0XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM02316715516608124
HP:0001763HP:0001763Pes planus0ZNF469 CL E G H8462790354ORPHA06964123216612078


Genes (203) :ACTA2 AEBP1 AGA AHCY ALG14 ALG2 ALMS1 AMMECR1 ANOS1 AP4B1 AP4E1 AP4M1 AP4S1 ATP6V0A2 ATP6V1B2 ATP6V1E1 ATP7A ATR ATRX B3GALT6 B3GAT3 B4GALT7 BAZ1B BCR BGN BPTF BRCA1 BRCA2 BRIP1 BRWD3 BSCL2 C12ORF57 C12orf57 CANT1 CCDC141 CEP152 CHCHD10 CHD7 CHST3 CLIP2 COL1A1 COL1A2 COL2A1 COL5A1 COL5A2 CREBBP CRKL CRLF1 CTSC CUL4B CUL7 DACT1 DCC DEAF1 DMD DPAGT1 DPM3 DUSP6 DYM ELN EP300 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXO11 FEZF1 FGD1 FGF17 FGF8 FGFR1 FIBP FKBP14 FLI1 FLII FLNA FLNB FLRT3 FMR1 FN1 FOXE3 FOXG1 GAN GARS GATA4 GDF5 GDF6 GFPT1 GMPPB GORAB GRIN2D GRM1 GTF2I GTF2IRD1 HDAC8 HERC1 HESX1 HNRNPH2 HS6ST1 HSPG2 IL17RD IQSEC2 KCNH1 KIF22 KISS1R LAS1L LIMK1 LMNA LMX1B LOX MAB21L2 MAD2L2 MAPK1 MAPRE2 MAT2A METTL23 MFAP5 MGAT2 MMP2 MYH11 MYH7 MYLK MYPN NONO NSD1 NSMF PACS1 PALB2 PEX6 PHF8 PIEZO2 PLOD1 PRDM5 PRKG1 PROK2 PROKR2 PUF60 PYCR1 PYROXD1 RAB33B RAB7A RAD51 RAD51C RAI1 RFC2 RFWD3 RIN2 RPS6KA3 RYR1 SALL1 SALL4 SBF1 SCO2 SEC23A SELENON SEMA3A SIL1 SKI SLC16A2 SLC29A3 SLC39A13 SLX4 SMAD3 SOX10 SOX5 SPRTN SPRY4 TACR3 TBL2 TBX4 TCF4 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TMCO1 TNXB TPM2 TPM3 TRPS1 TRPV4 TTN UBE2A UBE2T UCHL1 VLDLR VPS13B WDR11 XRCC2 XYLT1 XYLT2 ZDHHC9 ZNF148 ZNF469

Diseases (150) :91387 618000 93 88618 353327 616228 203800 300990 478 280763 614066 2834 219200 278250 79499 3473 617402 198 304150 210600 309580 75496 271640 245600 130070 904 261330 300989 617755 84 300659 100998 600794 1777 218340 251450 613823 615048 143095 287 617821 225320 93315 184250 130000 180849 272430 245010 300354 273750 857 819 98895 263494 223800 2462 616914 154700 618089 915 617107 300179 614557 2308 309350 272460 908 300624 613454 256850 251071 615298 617898 2078 617162 614831 3459 617011 300986 800 255800 217377 93360 309585 79474 161200 615877 616734 615942 212066 259600 324604 437572 171881 300967 117550 615009 616617 300263 617146 225400 90354 244200 508488 617258 615222 600882 182290 217335 613075 303600 192 597 117000 607323 615284 521411 50814 607812 248800 182212 300523 168569 612350 284984 613795 616803 616200 261279 147891 2896 610954 1328 614816 615582 60030 610168 213980 285 190350 600175 300860 615491 224050 216550 615777 85194 605822 300799 617260
 

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