Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
expand
Abnormal digit morphology (HP:0011297)help
..Starting node
..expand
Polydactyly (HP:0010442)help
Term ID: 10442
Name: Polydactyly
Synonym: More than five fingers or toes on hands or feet
Definition: A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Comments:
Reference: HP:0010442
Genes and Diseases:
 
       Child Nodes:
........expandHand polydactyly (HP:0001161) help
................... HP:0001162 Postaxial hand polydactyly
................... HP:0001177 Preaxial hand polydactyly
................... HP:0006159 Mesoaxial hand polydactyly
................... HP:0010441 Ectopic accessory finger-like appendage
................... HP:0010690 Mirror image hand polydactyly
........expandFoot polydactyly (HP:0001829) help
................... HP:0001830 Postaxial foot polydactyly
................... HP:0001841 Preaxial foot polydactyly
................... HP:0010112 Mesoaxial foot polydactyly
................... HP:0010440 Ectopic accesory toe-like appendage
................... HP:0010691 Mirror image foot polydactyly
........expandMirror image polydactyly (HP:0010689) help
................... HP:0010690 Mirror image hand polydactyly
................... HP:0010691 Mirror image foot polydactyly
........expandPreaxial polydactyly (HP:0100258) help
................... HP:0001177 Preaxial hand polydactyly
................... HP:0001841 Preaxial foot polydactyly
........expandPostaxial polydactyly (HP:0100259) help
................... HP:0001162 Postaxial hand polydactyly
................... HP:0001830 Postaxial foot polydactyly
........expandMesoaxial polydactyly (HP:0100260) help
................... HP:0006159 Mesoaxial hand polydactyly
................... HP:0010112 Mesoaxial foot polydactyly

 Sister Nodes: 
..expandAbnormality of finger (HP:0001167) help
..expandAbnormality of toe (HP:0001780) help
..expandBroad phalanx (HP:0006009) help
..expandClinodactyly (HP:0030084) help
..expandClubbing (HP:0001217) help
..expandMacrodactyly (HP:0004099) help
..expandOligodactyly (HP:0012165) help
..expandShort digit (HP:0011927) help
..expandSyndactyly (HP:0001159) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010442HP:0010442Polydactyly0ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1217913210608845
HP:0010442HP:0010442Polydactyly0BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM110931726291610148
HP:0010442HP:0010442Polydactyly0BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM16123726648610683
HP:0010442HP:0010442Polydactyly0BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0010442HP:0010442Polydactyly0BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14417518758607590
HP:0010442HP:0010442Polydactyly0BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0010442HP:0010442Polydactyly0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0010442HP:0010442Polydactyly0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0010442HP:0010442Polydactyly0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0010442HP:0010442Polydactyly0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0010442HP:0010442Polydactyly0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0010442HP:0010442Polydactyly0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0010442HP:0010442Polydactyly0FBLN1 CL E G H2192608180Synpolydactyly 2608180C1842422OMIM151003600135820
HP:0010442HP:0010442Polydactyly0GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM159984220601146
HP:0010442HP:0010442Polydactyly0HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0010442HP:0010442Polydactyly0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0010442HP:0010442Polydactyly0IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM145218626615870
HP:0010442HP:0010442Polydactyly0IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0010442HP:0010442Polydactyly0LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM1281726518600024
HP:0010442HP:0010442Polydactyly0LMBR1 CL E G H64327186200Syndactyly, type IV186200C1861355OMIM11124013243605522
HP:0010442HP:0010442Polydactyly0LMBR1 CL E G H64327188740Tibia, hypoplasia or aplasia of, with polydactyly188740C1861099OMIM11124013243605522
HP:0010442HP:0010442Polydactyly0MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0010442HP:0010442Polydactyly0MKS1 CL E G H54903615990Bardet-Biedl syndrome 13615990C2673873OMIM1523347121609883
HP:0010442HP:0010442Polydactyly0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0010442HP:0010442Polydactyly0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0010442HP:0010442Polydactyly0PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0010442HP:0010442Polydactyly0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0010442HP:0010442Polydactyly0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0010442HP:0010442Polydactyly0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0010442HP:0010442Polydactyly0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM1129524519613847
HP:0010442HP:0010442Polydactyly0TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM1810925018613277
HP:0010442HP:0010442Polydactyly0TMEM231 CL E G H79583615397Meckel syndrome, type 11615397C3809352OMIM11915037234614949
HP:0010442HP:0010442Polydactyly0TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM11632716380602290
HP:0010442HP:0010442Polydactyly0TTC21B CL E G H79809613819Asphyxiating thoracic dystrophy 4613819C3151185OMIM16333425660612014
HP:0010442HP:0010442Polydactyly0TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0010442HP:0010442Polydactyly0WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0010442HP:0010442Polydactyly0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0010442HP:0010442Polydactyly1ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1217913210608845
HP:0010442HP:0010442Polydactyly1BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM110931726291610148
HP:0010442HP:0010442Polydactyly1BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM16123726648610683
HP:0010442HP:0010442Polydactyly1BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0010442HP:0010442Polydactyly1BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14417518758607590
HP:0010442HP:0010442Polydactyly1BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0010442HP:0010442Polydactyly1BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0010442HP:0010442Polydactyly1CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0010442HP:0010442Polydactyly1CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0010442HP:0010442Polydactyly1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0010442HP:0010442Polydactyly1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0010442HP:0010442Polydactyly1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0010442HP:0010442Polydactyly1FBLN1 CL E G H2192608180Synpolydactyly 2608180C1842422OMIM151003600135820
HP:0010442HP:0010442Polydactyly1GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM159984220601146
HP:0010442HP:0010442Polydactyly1HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0010442HP:0010442Polydactyly1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0010442HP:0010442Polydactyly1IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM145218626615870
HP:0010442HP:0010442Polydactyly1IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0010442HP:0010442Polydactyly1LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM1281726518600024
HP:0010442HP:0010442Polydactyly1LMBR1 CL E G H64327186200Syndactyly, type IV186200C1861355OMIM11124013243605522
HP:0010442HP:0010442Polydactyly1LMBR1 CL E G H64327188740Tibia, hypoplasia or aplasia of, with polydactyly188740C1861099OMIM11124013243605522
HP:0010442HP:0010442Polydactyly1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0010442HP:0010442Polydactyly1MKS1 CL E G H54903615990Bardet-Biedl syndrome 13615990C2673873OMIM1523347121609883
HP:0010442HP:0010442Polydactyly1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0010442HP:0010442Polydactyly1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0010442HP:0010442Polydactyly1PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0010442HP:0010442Polydactyly1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0010442HP:0010442Polydactyly1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0010442HP:0010442Polydactyly1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0010442HP:0010442Polydactyly1TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM1129524519613847
HP:0010442HP:0010442Polydactyly1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM1810925018613277
HP:0010442HP:0010442Polydactyly1TMEM231 CL E G H79583615397Meckel syndrome, type 11615397C3809352OMIM11915037234614949
HP:0010442HP:0010442Polydactyly1TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM11632716380602290
HP:0010442HP:0010442Polydactyly1TTC21B CL E G H79809613819Asphyxiating thoracic dystrophy 4613819C3151185OMIM16333425660612014
HP:0010442HP:0010442Polydactyly1TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0010442HP:0010442Polydactyly1WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0010442HP:0010442Polydactyly1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0010442HP:0010442Polydactyly2ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1217913210608845
HP:0010442HP:0010442Polydactyly2BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM110931726291610148
HP:0010442HP:0010442Polydactyly2BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM16123726648610683
HP:0010442HP:0010442Polydactyly2BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0010442HP:0010442Polydactyly2BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14417518758607590
HP:0010442HP:0010442Polydactyly2BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0010442HP:0010442Polydactyly2BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0010442HP:0010442Polydactyly2CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0010442HP:0010442Polydactyly2CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0010442HP:0010442Polydactyly2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0010442HP:0010442Polydactyly2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0010442HP:0010442Polydactyly2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0010442HP:0010442Polydactyly2FBLN1 CL E G H2192608180Synpolydactyly 2608180C1842422OMIM151003600135820
HP:0010442HP:0010442Polydactyly2GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM159984220601146
HP:0010442HP:0010442Polydactyly2HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0010442HP:0010442Polydactyly2ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0010442HP:0010442Polydactyly2IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM145218626615870
HP:0010442HP:0010442Polydactyly2IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0010442HP:0010442Polydactyly2LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM1281726518600024
HP:0010442HP:0010442Polydactyly2LMBR1 CL E G H64327186200Syndactyly, type IV186200C1861355OMIM11124013243605522
HP:0010442HP:0010442Polydactyly2LMBR1 CL E G H64327188740Tibia, hypoplasia or aplasia of, with polydactyly188740C1861099OMIM11124013243605522
HP:0010442HP:0010442Polydactyly2MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0010442HP:0010442Polydactyly2MKS1 CL E G H54903615990Bardet-Biedl syndrome 13615990C2673873OMIM1523347121609883
HP:0010442HP:0010442Polydactyly2OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0010442HP:0010442Polydactyly2PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0010442HP:0010442Polydactyly2PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0010442HP:0010442Polydactyly2PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0010442HP:0010442Polydactyly2PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0010442HP:0010442Polydactyly2SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0010442HP:0010442Polydactyly2TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM1129524519613847
HP:0010442HP:0010442Polydactyly2TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM1810925018613277
HP:0010442HP:0010442Polydactyly2TMEM231 CL E G H79583615397Meckel syndrome, type 11615397C3809352OMIM11915037234614949
HP:0010442HP:0010442Polydactyly2TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM11632716380602290
HP:0010442HP:0010442Polydactyly2TTC21B CL E G H79809613819Asphyxiating thoracic dystrophy 4613819C3151185OMIM16333425660612014
HP:0010442HP:0010442Polydactyly2TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0010442HP:0010442Polydactyly2WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0010442HP:0010442Polydactyly2ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0010442HP:0010442Polydactyly3ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1217913210608845
HP:0010442HP:0010442Polydactyly3BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM110931726291610148
HP:0010442HP:0010442Polydactyly3BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM16123726648610683
HP:0010442HP:0010442Polydactyly3BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0010442HP:0010442Polydactyly3BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14417518758607590
HP:0010442HP:0010442Polydactyly3BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0010442HP:0010442Polydactyly3BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0010442HP:0010442Polydactyly3CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0010442HP:0010442Polydactyly3CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0010442HP:0010442Polydactyly3CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0010442HP:0010442Polydactyly3EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0010442HP:0010442Polydactyly3EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0010442HP:0010442Polydactyly3FBLN1 CL E G H2192608180Synpolydactyly 2608180C1842422OMIM151003600135820
HP:0010442HP:0010442Polydactyly3GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM159984220601146
HP:0010442HP:0010442Polydactyly3HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0010442HP:0010442Polydactyly3ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0010442HP:0010442Polydactyly3IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM145218626615870
HP:0010442HP:0010442Polydactyly3IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0010442HP:0010442Polydactyly3LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM1281726518600024
HP:0010442HP:0010442Polydactyly3LMBR1 CL E G H64327186200Syndactyly, type IV186200C1861355OMIM11124013243605522
HP:0010442HP:0010442Polydactyly3LMBR1 CL E G H64327188740Tibia, hypoplasia or aplasia of, with polydactyly188740C1861099OMIM11124013243605522
HP:0010442HP:0010442Polydactyly3MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0010442HP:0010442Polydactyly3MKS1 CL E G H54903615990Bardet-Biedl syndrome 13615990C2673873OMIM1523347121609883
HP:0010442HP:0010442Polydactyly3OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0010442HP:0010442Polydactyly3PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0010442HP:0010442Polydactyly3PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0010442HP:0010442Polydactyly3PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0010442HP:0010442Polydactyly3PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0010442HP:0010442Polydactyly3SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0010442HP:0010442Polydactyly3TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM1129524519613847
HP:0010442HP:0010442Polydactyly3TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM1810925018613277
HP:0010442HP:0010442Polydactyly3TMEM231 CL E G H79583615397Meckel syndrome, type 11615397C3809352OMIM11915037234614949
HP:0010442HP:0010442Polydactyly3TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM11632716380602290
HP:0010442HP:0010442Polydactyly3TTC21B CL E G H79809613819Asphyxiating thoracic dystrophy 4613819C3151185OMIM16333425660612014
HP:0010442HP:0010442Polydactyly3TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0010442HP:0010442Polydactyly3WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0010442HP:0010442Polydactyly3ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0010442HP:0010442Polydactyly4ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1217913210608845
HP:0010442HP:0010442Polydactyly4BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM110931726291610148
HP:0010442HP:0010442Polydactyly4BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM16123726648610683
HP:0010442HP:0010442Polydactyly4BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0010442HP:0010442Polydactyly4BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14417518758607590
HP:0010442HP:0010442Polydactyly4BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0010442HP:0010442Polydactyly4BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0010442HP:0010442Polydactyly4CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0010442HP:0010442Polydactyly4CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0010442HP:0010442Polydactyly4CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0010442HP:0010442Polydactyly4EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0010442HP:0010442Polydactyly4EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0010442HP:0010442Polydactyly4FBLN1 CL E G H2192608180Synpolydactyly 2608180C1842422OMIM151003600135820
HP:0010442HP:0010442Polydactyly4GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM159984220601146
HP:0010442HP:0010442Polydactyly4HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0010442HP:0010442Polydactyly4ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0010442HP:0010442Polydactyly4IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM145218626615870
HP:0010442HP:0010442Polydactyly4IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0010442HP:0010442Polydactyly4LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM1281726518600024
HP:0010442HP:0010442Polydactyly4LMBR1 CL E G H64327186200Syndactyly, type IV186200C1861355OMIM11124013243605522
HP:0010442HP:0010442Polydactyly4LMBR1 CL E G H64327188740Tibia, hypoplasia or aplasia of, with polydactyly188740C1861099OMIM11124013243605522
HP:0010442HP:0010442Polydactyly4MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0010442HP:0010442Polydactyly4MKS1 CL E G H54903615990Bardet-Biedl syndrome 13615990C2673873OMIM1523347121609883
HP:0010442HP:0010442Polydactyly4OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0010442HP:0010442Polydactyly4PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0010442HP:0010442Polydactyly4PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0010442HP:0010442Polydactyly4PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0010442HP:0010442Polydactyly4PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0010442HP:0010442Polydactyly4SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0010442HP:0010442Polydactyly4TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM1129524519613847
HP:0010442HP:0010442Polydactyly4TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM1810925018613277
HP:0010442HP:0010442Polydactyly4TMEM231 CL E G H79583615397Meckel syndrome, type 11615397C3809352OMIM11915037234614949
HP:0010442HP:0010442Polydactyly4TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM11632716380602290
HP:0010442HP:0010442Polydactyly4TTC21B CL E G H79809613819Asphyxiating thoracic dystrophy 4613819C3151185OMIM16333425660612014
HP:0010442HP:0010442Polydactyly4TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0010442HP:0010442Polydactyly4WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0010442HP:0010442Polydactyly4ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0010442HP:0010442Polydactyly5ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1217913210608845
HP:0010442HP:0010442Polydactyly5BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM110931726291610148
HP:0010442HP:0010442Polydactyly5BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM16123726648610683
HP:0010442HP:0010442Polydactyly5BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0010442HP:0010442Polydactyly5BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14417518758607590
HP:0010442HP:0010442Polydactyly5BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0010442HP:0010442Polydactyly5BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0010442HP:0010442Polydactyly5CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0010442HP:0010442Polydactyly5CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0010442HP:0010442Polydactyly5CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0010442HP:0010442Polydactyly5EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0010442HP:0010442Polydactyly5EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0010442HP:0010442Polydactyly5FBLN1 CL E G H2192608180Synpolydactyly 2608180C1842422OMIM151003600135820
HP:0010442HP:0010442Polydactyly5GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM159984220601146
HP:0010442HP:0010442Polydactyly5HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0010442HP:0010442Polydactyly5ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0010442HP:0010442Polydactyly5IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM145218626615870
HP:0010442HP:0010442Polydactyly5IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0010442HP:0010442Polydactyly5LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM1281726518600024
HP:0010442HP:0010442Polydactyly5LMBR1 CL E G H64327186200Syndactyly, type IV186200C1861355OMIM11124013243605522
HP:0010442HP:0010442Polydactyly5LMBR1 CL E G H64327188740Tibia, hypoplasia or aplasia of, with polydactyly188740C1861099OMIM11124013243605522
HP:0010442HP:0010442Polydactyly5MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0010442HP:0010442Polydactyly5MKS1 CL E G H54903615990Bardet-Biedl syndrome 13615990C2673873OMIM1523347121609883
HP:0010442HP:0010442Polydactyly5OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0010442HP:0010442Polydactyly5PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0010442HP:0010442Polydactyly5PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0010442HP:0010442Polydactyly5PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0010442HP:0010442Polydactyly5PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0010442HP:0010442Polydactyly5SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0010442HP:0010442Polydactyly5TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM1129524519613847
HP:0010442HP:0010442Polydactyly5TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM1810925018613277
HP:0010442HP:0010442Polydactyly5TMEM231 CL E G H79583615397Meckel syndrome, type 11615397C3809352OMIM11915037234614949
HP:0010442HP:0010442Polydactyly5TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM11632716380602290
HP:0010442HP:0010442Polydactyly5TTC21B CL E G H79809613819Asphyxiating thoracic dystrophy 4613819C3151185OMIM16333425660612014
HP:0010442HP:0010442Polydactyly5TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0010442HP:0010442Polydactyly5WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0010442HP:0010442Polydactyly5ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0010442HP:0010442Polydactyly6ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1217913210608845
HP:0010442HP:0010442Polydactyly6BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM110931726291610148
HP:0010442HP:0010442Polydactyly6BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM16123726648610683
HP:0010442HP:0010442Polydactyly6BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0010442HP:0010442Polydactyly6BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14417518758607590
HP:0010442HP:0010442Polydactyly6BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0010442HP:0010442Polydactyly6BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0010442HP:0010442Polydactyly6CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0010442HP:0010442Polydactyly6CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0010442HP:0010442Polydactyly6CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0010442HP:0010442Polydactyly6EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0010442HP:0010442Polydactyly6EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0010442HP:0010442Polydactyly6FBLN1 CL E G H2192608180Synpolydactyly 2608180C1842422OMIM151003600135820
HP:0010442HP:0010442Polydactyly6GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM159984220601146
HP:0010442HP:0010442Polydactyly6HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0010442HP:0010442Polydactyly6ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0010442HP:0010442Polydactyly6IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM145218626615870
HP:0010442HP:0010442Polydactyly6IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0010442HP:0010442Polydactyly6LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM1281726518600024
HP:0010442HP:0010442Polydactyly6LMBR1 CL E G H64327186200Syndactyly, type IV186200C1861355OMIM11124013243605522
HP:0010442HP:0010442Polydactyly6LMBR1 CL E G H64327188740Tibia, hypoplasia or aplasia of, with polydactyly188740C1861099OMIM11124013243605522
HP:0010442HP:0010442Polydactyly6MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0010442HP:0010442Polydactyly6MKS1 CL E G H54903615990Bardet-Biedl syndrome 13615990C2673873OMIM1523347121609883
HP:0010442HP:0010442Polydactyly6OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0010442HP:0010442Polydactyly6PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0010442HP:0010442Polydactyly6PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0010442HP:0010442Polydactyly6PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0010442HP:0010442Polydactyly6PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0010442HP:0010442Polydactyly6SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0010442HP:0010442Polydactyly6TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM1129524519613847
HP:0010442HP:0010442Polydactyly6TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM1810925018613277
HP:0010442HP:0010442Polydactyly6TMEM231 CL E G H79583615397Meckel syndrome, type 11615397C3809352OMIM11915037234614949
HP:0010442HP:0010442Polydactyly6TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM11632716380602290
HP:0010442HP:0010442Polydactyly6TTC21B CL E G H79809613819Asphyxiating thoracic dystrophy 4613819C3151185OMIM16333425660612014
HP:0010442HP:0010442Polydactyly6TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0010442HP:0010442Polydactyly6WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0010442HP:0010442Polydactyly6ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010442HP:0010442Polydactyly0BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM03186970603650
HP:0010442HP:0010442Polydactyly0CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0924529182614848
HP:0010442HP:0010442Polydactyly0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0010442HP:0010442Polydactyly0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM0912373133300205
HP:0010442HP:0010442Polydactyly0GLI2 CL E G H273695494ORPHA0883724318165230
HP:0010442HP:0010442Polydactyly0HESX1 CL E G H882095494ORPHA027464877601802
HP:0010442HP:0010442Polydactyly0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0010442HP:0010442Polydactyly0KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0010442HP:0010442Polydactyly0LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0010442HP:0010442Polydactyly0OTX2 CL E G H501595494ORPHA078988522600037
HP:0010442HP:0010442Polydactyly0POU1F1 CL E G H544995494ORPHA046729210173110
HP:0010442HP:0010442Polydactyly0PROP1 CL E G H562695494ORPHA0421509455601538
HP:0010442HP:0010442Polydactyly0TCTEX1D2 CL E G H255758617405Short-rib thoracic dysplasia 17 with or without polydactyly617405C4479416OMIM0628482617353
HP:0010442HP:0010442Polydactyly0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0010442HP:0010442Polydactyly0TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM096726944614459
HP:0010442HP:0010442Polydactyly0TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM01616717861607380
HP:0010442HP:0010442Polydactyly0WDR19 CL E G H57728614377Nephronophthisis 13614377C3280612OMIM04529418340608151
HP:0010442HP:0010442Polydactyly1BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM03186970603650
HP:0010442HP:0010442Polydactyly1CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0924529182614848
HP:0010442HP:0010442Polydactyly1CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0010442HP:0010442Polydactyly1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM0912373133300205
HP:0010442HP:0010442Polydactyly1GLI2 CL E G H273695494ORPHA0883724318165230
HP:0010442HP:0010442Polydactyly1HESX1 CL E G H882095494ORPHA027464877601802
HP:0010442HP:0010442Polydactyly1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0010442HP:0010442Polydactyly1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0010442HP:0010442Polydactyly1LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0010442HP:0010442Polydactyly1OTX2 CL E G H501595494ORPHA078988522600037
HP:0010442HP:0010442Polydactyly1POU1F1 CL E G H544995494ORPHA046729210173110
HP:0010442HP:0010442Polydactyly1PROP1 CL E G H562695494ORPHA0421509455601538
HP:0010442HP:0010442Polydactyly1TCTEX1D2 CL E G H255758617405Short-rib thoracic dysplasia 17 with or without polydactyly617405C4479416OMIM0628482617353
HP:0010442HP:0010442Polydactyly1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0010442HP:0010442Polydactyly1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM096726944614459
HP:0010442HP:0010442Polydactyly1TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM01616717861607380
HP:0010442HP:0010442Polydactyly1WDR19 CL E G H57728614377Nephronophthisis 13614377C3280612OMIM04529418340608151
HP:0010442HP:0010442Polydactyly2BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM03186970603650
HP:0010442HP:0010442Polydactyly2CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0924529182614848
HP:0010442HP:0010442Polydactyly2CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0010442HP:0010442Polydactyly2EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM0912373133300205
HP:0010442HP:0010442Polydactyly2GLI2 CL E G H273695494ORPHA0883724318165230
HP:0010442HP:0010442Polydactyly2HESX1 CL E G H882095494ORPHA027464877601802
HP:0010442HP:0010442Polydactyly2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0010442HP:0010442Polydactyly2KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0010442HP:0010442Polydactyly2LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0010442HP:0010442Polydactyly2OTX2 CL E G H501595494ORPHA078988522600037
HP:0010442HP:0010442Polydactyly2POU1F1 CL E G H544995494ORPHA046729210173110
HP:0010442HP:0010442Polydactyly2PROP1 CL E G H562695494ORPHA0421509455601538
HP:0010442HP:0010442Polydactyly2TCTEX1D2 CL E G H255758617405Short-rib thoracic dysplasia 17 with or without polydactyly617405C4479416OMIM0628482617353
HP:0010442HP:0010442Polydactyly2TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0010442HP:0010442Polydactyly2TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM096726944614459
HP:0010442HP:0010442Polydactyly2TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM01616717861607380
HP:0010442HP:0010442Polydactyly2WDR19 CL E G H57728614377Nephronophthisis 13614377C3280612OMIM04529418340608151
HP:0010442HP:0010442Polydactyly3BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM03186970603650
HP:0010442HP:0010442Polydactyly3CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0924529182614848
HP:0010442HP:0010442Polydactyly3CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0010442HP:0010442Polydactyly3EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM0912373133300205
HP:0010442HP:0010442Polydactyly3GLI2 CL E G H273695494ORPHA0883724318165230
HP:0010442HP:0010442Polydactyly3HESX1 CL E G H882095494ORPHA027464877601802
HP:0010442HP:0010442Polydactyly3INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0010442HP:0010442Polydactyly3KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0010442HP:0010442Polydactyly3LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0010442HP:0010442Polydactyly3OTX2 CL E G H501595494ORPHA078988522600037
HP:0010442HP:0010442Polydactyly3POU1F1 CL E G H544995494ORPHA046729210173110
HP:0010442HP:0010442Polydactyly3PROP1 CL E G H562695494ORPHA0421509455601538
HP:0010442HP:0010442Polydactyly3TCTEX1D2 CL E G H255758617405Short-rib thoracic dysplasia 17 with or without polydactyly617405C4479416OMIM0628482617353
HP:0010442HP:0010442Polydactyly3TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0010442HP:0010442Polydactyly3TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM096726944614459
HP:0010442HP:0010442Polydactyly3TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM01616717861607380
HP:0010442HP:0010442Polydactyly3WDR19 CL E G H57728614377Nephronophthisis 13614377C3280612OMIM04529418340608151
HP:0010442HP:0010442Polydactyly4BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM03186970603650
HP:0010442HP:0010442Polydactyly4CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0924529182614848
HP:0010442HP:0010442Polydactyly4CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0010442HP:0010442Polydactyly4EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM0912373133300205
HP:0010442HP:0010442Polydactyly4GLI2 CL E G H273695494ORPHA0883724318165230
HP:0010442HP:0010442Polydactyly4HESX1 CL E G H882095494ORPHA027464877601802
HP:0010442HP:0010442Polydactyly4INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0010442HP:0010442Polydactyly4KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0010442HP:0010442Polydactyly4LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0010442HP:0010442Polydactyly4OTX2 CL E G H501595494ORPHA078988522600037
HP:0010442HP:0010442Polydactyly4POU1F1 CL E G H544995494ORPHA046729210173110
HP:0010442HP:0010442Polydactyly4PROP1 CL E G H562695494ORPHA0421509455601538
HP:0010442HP:0010442Polydactyly4TCTEX1D2 CL E G H255758617405Short-rib thoracic dysplasia 17 with or without polydactyly617405C4479416OMIM0628482617353
HP:0010442HP:0010442Polydactyly4TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0010442HP:0010442Polydactyly4TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM096726944614459
HP:0010442HP:0010442Polydactyly4TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM01616717861607380
HP:0010442HP:0010442Polydactyly4WDR19 CL E G H57728614377Nephronophthisis 13614377C3280612OMIM04529418340608151
HP:0010442HP:0010442Polydactyly5BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM03186970603650
HP:0010442HP:0010442Polydactyly5CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0924529182614848
HP:0010442HP:0010442Polydactyly5CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0010442HP:0010442Polydactyly5EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM0912373133300205
HP:0010442HP:0010442Polydactyly5GLI2 CL E G H273695494ORPHA0883724318165230
HP:0010442HP:0010442Polydactyly5HESX1 CL E G H882095494ORPHA027464877601802
HP:0010442HP:0010442Polydactyly5INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0010442HP:0010442Polydactyly5KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0010442HP:0010442Polydactyly5LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0010442HP:0010442Polydactyly5OTX2 CL E G H501595494ORPHA078988522600037
HP:0010442HP:0010442Polydactyly5POU1F1 CL E G H544995494ORPHA046729210173110
HP:0010442HP:0010442Polydactyly5PROP1 CL E G H562695494ORPHA0421509455601538
HP:0010442HP:0010442Polydactyly5TCTEX1D2 CL E G H255758617405Short-rib thoracic dysplasia 17 with or without polydactyly617405C4479416OMIM0628482617353
HP:0010442HP:0010442Polydactyly5TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0010442HP:0010442Polydactyly5TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM096726944614459
HP:0010442HP:0010442Polydactyly5TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM01616717861607380
HP:0010442HP:0010442Polydactyly5WDR19 CL E G H57728614377Nephronophthisis 13614377C3280612OMIM04529418340608151
HP:0010442HP:0010442Polydactyly6BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM03186970603650
HP:0010442HP:0010442Polydactyly6CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0924529182614848
HP:0010442HP:0010442Polydactyly6CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0010442HP:0010442Polydactyly6EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM0912373133300205
HP:0010442HP:0010442Polydactyly6GLI2 CL E G H273695494ORPHA0883724318165230
HP:0010442HP:0010442Polydactyly6HESX1 CL E G H882095494ORPHA027464877601802
HP:0010442HP:0010442Polydactyly6INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0010442HP:0010442Polydactyly6KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0010442HP:0010442Polydactyly6LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0010442HP:0010442Polydactyly6OTX2 CL E G H501595494ORPHA078988522600037
HP:0010442HP:0010442Polydactyly6POU1F1 CL E G H544995494ORPHA046729210173110
HP:0010442HP:0010442Polydactyly6PROP1 CL E G H562695494ORPHA0421509455601538
HP:0010442HP:0010442Polydactyly6TCTEX1D2 CL E G H255758617405Short-rib thoracic dysplasia 17 with or without polydactyly617405C4479416OMIM0628482617353
HP:0010442HP:0010442Polydactyly6TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0010442HP:0010442Polydactyly6TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM096726944614459
HP:0010442HP:0010442Polydactyly6TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM01616717861607380
HP:0010442HP:0010442Polydactyly6WDR19 CL E G H57728614377Nephronophthisis 13614377C3280612OMIM04529418340608151


Genes (205) :ABCA12 ACOX1 AHI1 AKT3 ALX3 ARL13B ARL3 ARL6 ARMC9 ARVCF B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BHLHA9 BLM BMP4 BMPR1B C2CD3 C8ORF37 CC2D2A CCDC22 CCND2 CD96 CDC45 CDCA7 CEP104 CEP120 CEP164 CEP290 CEP41 CEP55 CHD7 CHN1 CHST11 COG6 COL25A1 COL2A1 COLEC10 COMT CPLANE1 CPLX1 CRB2 CREBBP CSPP1 CTBP1 CTU2 DACT1 DDX59 DEAF1 DHCR7 DYNC2H1 DYNC2LI1 EBP EFNB1 EFTUD2 EP300 EVC EVC2 FANCB FBLN1 FGF10 FGFR2 FGFR3 FGFRL1 FLI1 FLII FLNA GABRD GATA6 GDF5 GDF6 GJA1 GJB6 GLI1 GLI2 GLI3 GP1BB GPC3 GPC4 HESX1 HIRA HNRNPK HOXA13 HOXD13 HYLS1 ICK IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 INPP5E INTU IQCE IQSEC2 JMJD1C KCNAB2 KIAA0556 KIAA0586 KIAA0753 KIF7 LBR LETM1 LHX4 LMBR1 LZTFL1 MAFB MBTPS2 MEGF8 MKKS MKS1 NEK1 NEK9 NELFA NKX2-5 NKX2-6 NPHP1 NPHP3 NSD2 OFD1 OTX2 PDE6D PHF8 PIBF1 PIK3CA PIK3R2 PITX1 PLAA PNPLA6 PORCN POU1F1 PRDM16 PROP1 PTCH1 PTCH2 PTEN RAB23 RAI1 RBM10 RERE RPGRIP1 RPGRIP1L RREB1 SALL1 SALL4 SC5D SDCCAG8 SEC24C SEMA3E SETBP1 SH2B1 SHH SKI SMO SMOC1 SUFU TBX1 TBX3 TCTEX1D2 TCTN1 TCTN2 TCTN3 TFAP2A TFAP2B TGFBR1 TGFBR2 TMCO1 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRAF3IP1 TRIM32 TTC21B TTC8 TWIST1 UFD1 UQCC2 USP9X WASHC5 WDPCP WDR19 WDR34 WDR35 WDR60 WHCR WNT7A ZIC3 ZNF141 ZNF423 ZSWIM6

Diseases (230) :600151 615987 615989 615982 615983 615984 615986 607539 616910 614845 614464 614615 180849 302960 300960 608180 113100 95494 182230 612651 615996 617119 617926 616490 169400 186200 188740 605231 615990 311200 602501 77301 109400 617405 614815 610168 614465 603194 615397 616629 615988 613819 615985 614377 614091 603671 457 2971 220493 475 567 614175 209900 125 210900 615948 614500 2318 612284 7 1308 617063 616300 214800 618167 614576 248340 2754 277170 219730 397715 618142 819 613091 289 35173 1520 314390 149730 2308 90652 1606 217095 613094 189 618123 615849 174200 174700 312870 616580 614099 617866 617102 617927 617895 617925 617642 616546 614120 93405 2378 135750 615994 614976 249000 64754 220497 2750 300804 60040 276280 603387 119800 617527 2377 2092 305600 65285 311900 607323 261197 1553 258860 614970 614424 615824 300968 615633 615503 83473 615937 136760 110 564 615981 3329 139471 607932 2098 617406 216360 1454 615938 211750 474 611134 233 93296 194190 857 2919 174300 818 270400 93271 617088 79113 610536 952 225500 193530 101200 1540 304120 200700 2710 610829 380 36 175700 146510 373 2438 176305 887 186000 2189 236680 615630 611263 213300 200990 215140 280 3332 174500 85284 308205 65759 2473 236700 2751 263520 267010 615665 85287 521426 201000 611560 611561 107480 959 2307 46059 607330 269150 601707 1106 206920 3138 181450 616654 613885 2753 1297 113620 46627 609192 213980 608091 2752 607361 217085 613610 228930 615226 1827 672 101400
 

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