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
Syndactyly (HP:0001159)help
Term ID: 1159
Name: Syndactyly
Synonym: Webbed fingers or toes
Definition: Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Comments:
Reference: HP:0001159
Genes and Diseases:
 
       Child Nodes:
........expandToe syndactyly (HP:0001770) help
................... HP:0001459 1-3 toe syndactyly
................... HP:0004691 2-3 toe syndactyly
................... HP:0004692 4-5 toe syndactyly
................... HP:0009779 3-4 toe syndactyly
................... HP:0010621 Cutaneous syndactyly of toes
................... HP:0010711 1-2 toe syndactyly
................... HP:0010712 1-4 toe syndactyly
................... HP:0010713 1-5 toe syndactyly
................... HP:0010714 2-4 toe syndactyly
................... HP:0010715 2-5 toe syndactyly
................... HP:0010716 3-5 toe syndactyly
................... HP:0010717 Osseous syndactyly of toes
........expandFinger syndactyly (HP:0006101) help
................... HP:0001233 2-3 finger syndactyly
................... HP:0006097 3-4 finger syndactyly
................... HP:0010492 Osseous finger syndactyly
................... HP:0010554 Cutaneous finger syndactyly
................... HP:0010692 2-5 finger syndactyly
................... HP:0010704 1-2 finger syndactyly
................... HP:0010705 4-5 finger syndactyly
................... HP:0010706 1-3 finger syndactyly
................... HP:0010707 1-4 finger syndactyly
................... HP:0010708 1-5 finger syndactyly
................... HP:0010709 2-4 finger syndactyly
................... HP:0010710 3-5 finger syndactyly
........expandCutaneous syndactyly (HP:0012725) help
................... HP:0010554 Cutaneous finger syndactyly
................... HP:0010621 Cutaneous syndactyly of toes

 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
..expandPolydactyly (HP:0010442) help
..expandShort digit (HP:0011927) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001159HP:0001159Syndactyly0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0001159HP:0001159Syndactyly0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0001159HP:0001159Syndactyly0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001159HP:0001159Syndactyly0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0001159HP:0001159Syndactyly0BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0001159HP:0001159Syndactyly0BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM13186970603650
HP:0001159HP:0001159Syndactyly0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001159HP:0001159Syndactyly0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM113115161058604610
HP:0001159HP:0001159Syndactyly0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0001159HP:0001159Syndactyly0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0001159HP:0001159Syndactyly0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0001159HP:0001159Syndactyly0CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0001159HP:0001159Syndactyly0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0001159HP:0001159Syndactyly0CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11615517198608183
HP:0001159HP:0001159Syndactyly0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0001159HP:0001159Syndactyly0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001159HP:0001159Syndactyly0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0001159HP:0001159Syndactyly0DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM119492910605185
HP:0001159HP:0001159Syndactyly0DSP CL E G H1832609638Epidermolysis bullosa, lethal acantholytic609638C1864826OMIM130921793052125647
HP:0001159HP:0001159Syndactyly0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001159HP:0001159Syndactyly0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0001159HP:0001159Syndactyly0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0001159HP:0001159Syndactyly0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0001159HP:0001159Syndactyly0FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0001159HP:0001159Syndactyly0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0001159HP:0001159Syndactyly0H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM138494713103280
HP:0001159HP:0001159Syndactyly0HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM12405101142958
HP:0001159HP:0001159Syndactyly0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0001159HP:0001159Syndactyly0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM176429669614068
HP:0001159HP:0001159Syndactyly0IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM176429669614068
HP:0001159HP:0001159Syndactyly0IFT81 CL E G H28981617895SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY617895CN842245OMIM1106014313605489
HP:0001159HP:0001159Syndactyly0IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM111675466147470
HP:0001159HP:0001159Syndactyly0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0001159HP:0001159Syndactyly0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0001159HP:0001159Syndactyly0LMBR1 CL E G H64327135750Mirror image polydactyly135750C1851100OMIM11124013243605522
HP:0001159HP:0001159Syndactyly0LMBR1 CL E G H64327174500Polydactyly, preaxial II174500C1868114OMIM11124013243605522
HP:0001159HP:0001159Syndactyly0LMNA CL E G H4000610140Heart-hand syndrome, Slovenian type610140C1857829OMIM157411526636150330
HP:0001159HP:0001159Syndactyly0LRP4 CL E G H4038212780Syndactyly Cenani Lenz type212780C1859309OMIM1343756696604270
HP:0001159HP:0001159Syndactyly0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001159HP:0001159Syndactyly0MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0001159HP:0001159Syndactyly0MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM1601947108604896
HP:0001159HP:0001159Syndactyly0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0001159HP:0001159Syndactyly0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001159HP:0001159Syndactyly0NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM112414777881190198
HP:0001159HP:0001159Syndactyly0OFD1 CL E G H84812754ORPHA11625102567300170
HP:0001159HP:0001159Syndactyly0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0001159HP:0001159Syndactyly0PDE6D CL E G H51472754ORPHA11398788602676
HP:0001159HP:0001159Syndactyly0PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11398788602676
HP:0001159HP:0001159Syndactyly0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0001159HP:0001159Syndactyly0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0001159HP:0001159Syndactyly0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0001159HP:0001159Syndactyly0RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM116222496605706
HP:0001159HP:0001159Syndactyly0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0001159HP:0001159Syndactyly0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0001159HP:0001159Syndactyly0SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
HP:0001159HP:0001159Syndactyly0TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0001159HP:0001159Syndactyly0TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0001159HP:0001159Syndactyly0TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0001159HP:0001159Syndactyly0TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112828215979603273
HP:0001159HP:0001159Syndactyly0TP63 CL E G H8626605289Split-hand/foot malformation 4605289C1854442OMIM112828215979603273
HP:0001159HP:0001159Syndactyly0VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0001159HP:0001159Syndactyly0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001159HP:0001159Syndactyly0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0001159HP:0001159Syndactyly0WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0001159HP:0001159Syndactyly0WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM11321862615462
HP:0001159HP:0001159Syndactyly0YY1AP1 CL E G H5524979094ORPHA154830935607860
HP:0001159HP:0001159Syndactyly0YY1AP1 CL E G H55249602531Grange syndrome602531C1865267OMIM154830935607860
HP:0001159HP:0001159Syndactyly0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0001159HP:0001159Syndactyly1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0001159HP:0001159Syndactyly1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0001159HP:0001159Syndactyly1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001159HP:0001159Syndactyly1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0001159HP:0001159Syndactyly1BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0001159HP:0001159Syndactyly1BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM13186970603650
HP:0001159HP:0001159Syndactyly1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001159HP:0001159Syndactyly1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM113115161058604610
HP:0001159HP:0001159Syndactyly1CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0001159HP:0001159Syndactyly1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0001159HP:0001159Syndactyly1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0001159HP:0001159Syndactyly1CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0001159HP:0001159Syndactyly1CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0001159HP:0001159Syndactyly1CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11615517198608183
HP:0001159HP:0001159Syndactyly1CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0001159HP:0001159Syndactyly1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001159HP:0001159Syndactyly1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0001159HP:0001159Syndactyly1DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM119492910605185
HP:0001159HP:0001159Syndactyly1DSP CL E G H1832609638Epidermolysis bullosa, lethal acantholytic609638C1864826OMIM130921793052125647
HP:0001159HP:0001159Syndactyly1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001159HP:0001159Syndactyly1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0001159HP:0001159Syndactyly1FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0001159HP:0001159Syndactyly1FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0001159HP:0001159Syndactyly1FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0001159HP:0001159Syndactyly1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0001159HP:0001159Syndactyly1H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM138494713103280
HP:0001159HP:0001159Syndactyly1HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM12405101142958
HP:0001159HP:0001159Syndactyly1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0001159HP:0001159Syndactyly1IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM176429669614068
HP:0001159HP:0001159Syndactyly1IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM176429669614068
HP:0001159HP:0001159Syndactyly1IFT81 CL E G H28981617895SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY617895CN842245OMIM1106014313605489
HP:0001159HP:0001159Syndactyly1IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM111675466147470
HP:0001159HP:0001159Syndactyly1KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0001159HP:0001159Syndactyly1KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0001159HP:0001159Syndactyly1LMBR1 CL E G H64327135750Mirror image polydactyly135750C1851100OMIM11124013243605522
HP:0001159HP:0001159Syndactyly1LMBR1 CL E G H64327174500Polydactyly, preaxial II174500C1868114OMIM11124013243605522
HP:0001159HP:0001159Syndactyly1LMNA CL E G H4000610140Heart-hand syndrome, Slovenian type610140C1857829OMIM157411526636150330
HP:0001159HP:0001159Syndactyly1LRP4 CL E G H4038212780Syndactyly Cenani Lenz type212780C1859309OMIM1343756696604270
HP:0001159HP:0001159Syndactyly1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001159HP:0001159Syndactyly1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0001159HP:0001159Syndactyly1MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM1601947108604896
HP:0001159HP:0001159Syndactyly1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0001159HP:0001159Syndactyly1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001159HP:0001159Syndactyly1NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM112414777881190198
HP:0001159HP:0001159Syndactyly1OFD1 CL E G H84812754ORPHA11625102567300170
HP:0001159HP:0001159Syndactyly1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0001159HP:0001159Syndactyly1PDE6D CL E G H51472754ORPHA11398788602676
HP:0001159HP:0001159Syndactyly1PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11398788602676
HP:0001159HP:0001159Syndactyly1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0001159HP:0001159Syndactyly1PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0001159HP:0001159Syndactyly1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0001159HP:0001159Syndactyly1RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM116222496605706
HP:0001159HP:0001159Syndactyly1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0001159HP:0001159Syndactyly1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0001159HP:0001159Syndactyly1SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
HP:0001159HP:0001159Syndactyly1TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0001159HP:0001159Syndactyly1TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0001159HP:0001159Syndactyly1TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0001159HP:0001159Syndactyly1TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112828215979603273
HP:0001159HP:0001159Syndactyly1TP63 CL E G H8626605289Split-hand/foot malformation 4605289C1854442OMIM112828215979603273
HP:0001159HP:0001159Syndactyly1VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0001159HP:0001159Syndactyly1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001159HP:0001159Syndactyly1WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0001159HP:0001159Syndactyly1WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0001159HP:0001159Syndactyly1WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM11321862615462
HP:0001159HP:0001159Syndactyly1YY1AP1 CL E G H5524979094ORPHA154830935607860
HP:0001159HP:0001159Syndactyly1YY1AP1 CL E G H55249602531Grange syndrome602531C1865267OMIM154830935607860
HP:0001159HP:0001159Syndactyly1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0001159HP:0001159Syndactyly2ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0001159HP:0001159Syndactyly2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0001159HP:0001159Syndactyly2B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001159HP:0001159Syndactyly2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0001159HP:0001159Syndactyly2BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0001159HP:0001159Syndactyly2BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM13186970603650
HP:0001159HP:0001159Syndactyly2BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001159HP:0001159Syndactyly2BLM CL E G H641210900Bloom syndrome210900C0005859OMIM113115161058604610
HP:0001159HP:0001159Syndactyly2CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0001159HP:0001159Syndactyly2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0001159HP:0001159Syndactyly2CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0001159HP:0001159Syndactyly2CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0001159HP:0001159Syndactyly2CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0001159HP:0001159Syndactyly2CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11615517198608183
HP:0001159HP:0001159Syndactyly2CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0001159HP:0001159Syndactyly2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001159HP:0001159Syndactyly2DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0001159HP:0001159Syndactyly2DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM119492910605185
HP:0001159HP:0001159Syndactyly2DSP CL E G H1832609638Epidermolysis bullosa, lethal acantholytic609638C1864826OMIM130921793052125647
HP:0001159HP:0001159Syndactyly2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001159HP:0001159Syndactyly2ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0001159HP:0001159Syndactyly2FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0001159HP:0001159Syndactyly2FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0001159HP:0001159Syndactyly2FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0001159HP:0001159Syndactyly2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0001159HP:0001159Syndactyly2H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM138494713103280
HP:0001159HP:0001159Syndactyly2HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM12405101142958
HP:0001159HP:0001159Syndactyly2ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0001159HP:0001159Syndactyly2IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM176429669614068
HP:0001159HP:0001159Syndactyly2IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM176429669614068
HP:0001159HP:0001159Syndactyly2IFT81 CL E G H28981617895SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY617895CN842245OMIM1106014313605489
HP:0001159HP:0001159Syndactyly2IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM111675466147470
HP:0001159HP:0001159Syndactyly2KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0001159HP:0001159Syndactyly2KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0001159HP:0001159Syndactyly2LMBR1 CL E G H64327135750Mirror image polydactyly135750C1851100OMIM11124013243605522
HP:0001159HP:0001159Syndactyly2LMBR1 CL E G H64327174500Polydactyly, preaxial II174500C1868114OMIM11124013243605522
HP:0001159HP:0001159Syndactyly2LMNA CL E G H4000610140Heart-hand syndrome, Slovenian type610140C1857829OMIM157411526636150330
HP:0001159HP:0001159Syndactyly2LRP4 CL E G H4038212780Syndactyly Cenani Lenz type212780C1859309OMIM1343756696604270
HP:0001159HP:0001159Syndactyly2MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001159HP:0001159Syndactyly2MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0001159HP:0001159Syndactyly2MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM1601947108604896
HP:0001159HP:0001159Syndactyly2MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0001159HP:0001159Syndactyly2NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001159HP:0001159Syndactyly2NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM112414777881190198
HP:0001159HP:0001159Syndactyly2OFD1 CL E G H84812754ORPHA11625102567300170
HP:0001159HP:0001159Syndactyly2OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0001159HP:0001159Syndactyly2PDE6D CL E G H51472754ORPHA11398788602676
HP:0001159HP:0001159Syndactyly2PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11398788602676
HP:0001159HP:0001159Syndactyly2PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0001159HP:0001159Syndactyly2PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0001159HP:0001159Syndactyly2PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0001159HP:0001159Syndactyly2RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM116222496605706
HP:0001159HP:0001159Syndactyly2ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0001159HP:0001159Syndactyly2SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0001159HP:0001159Syndactyly2SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
HP:0001159HP:0001159Syndactyly2TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0001159HP:0001159Syndactyly2TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0001159HP:0001159Syndactyly2TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0001159HP:0001159Syndactyly2TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112828215979603273
HP:0001159HP:0001159Syndactyly2TP63 CL E G H8626605289Split-hand/foot malformation 4605289C1854442OMIM112828215979603273
HP:0001159HP:0001159Syndactyly2VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0001159HP:0001159Syndactyly2WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001159HP:0001159Syndactyly2WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0001159HP:0001159Syndactyly2WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0001159HP:0001159Syndactyly2WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM11321862615462
HP:0001159HP:0001159Syndactyly2YY1AP1 CL E G H5524979094ORPHA154830935607860
HP:0001159HP:0001159Syndactyly2YY1AP1 CL E G H55249602531Grange syndrome602531C1865267OMIM154830935607860
HP:0001159HP:0001159Syndactyly2ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0001159HP:0001159Syndactyly3ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0001159HP:0001159Syndactyly3ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0001159HP:0001159Syndactyly3B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001159HP:0001159Syndactyly3BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0001159HP:0001159Syndactyly3BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM154217969600374
HP:0001159HP:0001159Syndactyly3BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM13186970603650
HP:0001159HP:0001159Syndactyly3BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001159HP:0001159Syndactyly3BLM CL E G H641210900Bloom syndrome210900C0005859OMIM113115161058604610
HP:0001159HP:0001159Syndactyly3CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0001159HP:0001159Syndactyly3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0001159HP:0001159Syndactyly3CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0001159HP:0001159Syndactyly3CDH3 CL E G H1001225280EEM syndrome225280C1857041OMIM1312441762114021
HP:0001159HP:0001159Syndactyly3CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0001159HP:0001159Syndactyly3CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11615517198608183
HP:0001159HP:0001159Syndactyly3CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0001159HP:0001159Syndactyly3CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001159HP:0001159Syndactyly3DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0001159HP:0001159Syndactyly3DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM119492910605185
HP:0001159HP:0001159Syndactyly3DSP CL E G H1832609638Epidermolysis bullosa, lethal acantholytic609638C1864826OMIM130921793052125647
HP:0001159HP:0001159Syndactyly3EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001159HP:0001159Syndactyly3ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0001159HP:0001159Syndactyly3FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0001159HP:0001159Syndactyly3FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0001159HP:0001159Syndactyly3FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0001159HP:0001159Syndactyly3FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0001159HP:0001159Syndactyly3H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM138494713103280
HP:0001159HP:0001159Syndactyly3HOXA11 CL E G H3207605432Radioulnar synostosis with amegakaryocytic thrombocytopenia605432C1854273OMIM12405101142958
HP:0001159HP:0001159Syndactyly3ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0001159HP:0001159Syndactyly3IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM176429669614068
HP:0001159HP:0001159Syndactyly3IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM176429669614068
HP:0001159HP:0001159Syndactyly3IFT81 CL E G H28981617895SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY617895CN842245OMIM1106014313605489
HP:0001159HP:0001159Syndactyly3IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM111675466147470
HP:0001159HP:0001159Syndactyly3KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0001159HP:0001159Syndactyly3KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0001159HP:0001159Syndactyly3LMBR1 CL E G H64327135750Mirror image polydactyly135750C1851100OMIM11124013243605522
HP:0001159HP:0001159Syndactyly3LMBR1 CL E G H64327174500Polydactyly, preaxial II174500C1868114OMIM11124013243605522
HP:0001159HP:0001159Syndactyly3LMNA CL E G H4000610140Heart-hand syndrome, Slovenian type610140C1857829OMIM157411526636150330
HP:0001159HP:0001159Syndactyly3LRP4 CL E G H4038212780Syndactyly Cenani Lenz type212780C1859309OMIM1343756696604270
HP:0001159HP:0001159Syndactyly3MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001159HP:0001159Syndactyly3MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0001159HP:0001159Syndactyly3MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM1601947108604896
HP:0001159HP:0001159Syndactyly3MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0001159HP:0001159Syndactyly3NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001159HP:0001159Syndactyly3NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM112414777881190198
HP:0001159HP:0001159Syndactyly3OFD1 CL E G H84812754ORPHA11625102567300170
HP:0001159HP:0001159Syndactyly3OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0001159HP:0001159Syndactyly3PDE6D CL E G H51472754ORPHA11398788602676
HP:0001159HP:0001159Syndactyly3PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11398788602676
HP:0001159HP:0001159Syndactyly3PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0001159HP:0001159Syndactyly3PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0001159HP:0001159Syndactyly3PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0001159HP:0001159Syndactyly3RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM116222496605706
HP:0001159HP:0001159Syndactyly3ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0001159HP:0001159Syndactyly3SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0001159HP:0001159Syndactyly3SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
HP:0001159HP:0001159Syndactyly3TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0001159HP:0001159Syndactyly3TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0001159HP:0001159Syndactyly3TP63 CL E G H8626603543Limb-mammary syndrome603543C1863753OMIM112828215979603273
HP:0001159HP:0001159Syndactyly3TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112828215979603273
HP:0001159HP:0001159Syndactyly3TP63 CL E G H8626605289Split-hand/foot malformation 4605289C1854442OMIM112828215979603273
HP:0001159HP:0001159Syndactyly3VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0001159HP:0001159Syndactyly3WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001159HP:0001159Syndactyly3WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0001159HP:0001159Syndactyly3WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0001159HP:0001159Syndactyly3WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM11321862615462
HP:0001159HP:0001159Syndactyly3YY1AP1 CL E G H5524979094ORPHA154830935607860
HP:0001159HP:0001159Syndactyly3YY1AP1 CL E G H55249602531Grange syndrome602531C1865267OMIM154830935607860
HP:0001159HP:0001159Syndactyly3ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001159HP:0001159Syndactyly0C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM0626929615626
HP:0001159HP:0001159Syndactyly0CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM0691921713607465
HP:0001159HP:0001159Syndactyly0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0001159HP:0001159Syndactyly0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM01074153373602700
HP:0001159HP:0001159Syndactyly0FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM03731723109612411
HP:0001159HP:0001159Syndactyly0GLI3 CL E G H2737174200Postaxial polydactyly174200C0220697OMIM02445374319165240
HP:0001159HP:0001159Syndactyly0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM064824868605837
HP:0001159HP:0001159Syndactyly0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03116109601491
HP:0001159HP:0001159Syndactyly0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM064014361606195
HP:0001159HP:0001159Syndactyly0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM0204536814605283
HP:0001159HP:0001159Syndactyly0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM0323317114603856
HP:0001159HP:0001159Syndactyly0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0001159HP:0001159Syndactyly0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0001159HP:0001159Syndactyly0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM023147675602117
HP:0001159HP:0001159Syndactyly0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03431190610922
HP:0001159HP:0001159Syndactyly0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031130089600161
HP:0001159HP:0001159Syndactyly0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032233235611215
HP:0001159HP:0001159Syndactyly0RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM0131499811606462
HP:0001159HP:0001159Syndactyly0SBF1 CL E G H6305615284Charcot-Marie-Tooth disease, type 4B3615284C3695063OMIM01430310542603560
HP:0001159HP:0001159Syndactyly0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM023520662608744
HP:0001159HP:0001159Syndactyly0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031333020609837
HP:0001159HP:0001159Syndactyly0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM031433067605436
HP:0001159HP:0001159Syndactyly0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM02538511164182279
HP:0001159HP:0001159Syndactyly0TBX5 CL E G H6910142900Holt-Oram syndrome142900C0265264OMIM013231511604601620
HP:0001159HP:0001159Syndactyly0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0001159HP:0001159Syndactyly0TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM01915037234614949
HP:0001159HP:0001159Syndactyly1C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM0626929615626
HP:0001159HP:0001159Syndactyly1CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM0691921713607465
HP:0001159HP:0001159Syndactyly1CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0001159HP:0001159Syndactyly1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM01074153373602700
HP:0001159HP:0001159Syndactyly1FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM03731723109612411
HP:0001159HP:0001159Syndactyly1GLI3 CL E G H2737174200Postaxial polydactyly174200C0220697OMIM02445374319165240
HP:0001159HP:0001159Syndactyly1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM064824868605837
HP:0001159HP:0001159Syndactyly1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03116109601491
HP:0001159HP:0001159Syndactyly1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM064014361606195
HP:0001159HP:0001159Syndactyly1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM0204536814605283
HP:0001159HP:0001159Syndactyly1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM0323317114603856
HP:0001159HP:0001159Syndactyly1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0001159HP:0001159Syndactyly1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0001159HP:0001159Syndactyly1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM023147675602117
HP:0001159HP:0001159Syndactyly1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03431190610922
HP:0001159HP:0001159Syndactyly1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031130089600161
HP:0001159HP:0001159Syndactyly1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032233235611215
HP:0001159HP:0001159Syndactyly1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM0131499811606462
HP:0001159HP:0001159Syndactyly1SBF1 CL E G H6305615284Charcot-Marie-Tooth disease, type 4B3615284C3695063OMIM01430310542603560
HP:0001159HP:0001159Syndactyly1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM023520662608744
HP:0001159HP:0001159Syndactyly1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031333020609837
HP:0001159HP:0001159Syndactyly1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM031433067605436
HP:0001159HP:0001159Syndactyly1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM02538511164182279
HP:0001159HP:0001159Syndactyly1TBX5 CL E G H6910142900Holt-Oram syndrome142900C0265264OMIM013231511604601620
HP:0001159HP:0001159Syndactyly1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0001159HP:0001159Syndactyly1TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM01915037234614949
HP:0001159HP:0001159Syndactyly2C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM0626929615626
HP:0001159HP:0001159Syndactyly2CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM0691921713607465
HP:0001159HP:0001159Syndactyly2CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0001159HP:0001159Syndactyly2EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM01074153373602700
HP:0001159HP:0001159Syndactyly2FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM03731723109612411
HP:0001159HP:0001159Syndactyly2GLI3 CL E G H2737174200Postaxial polydactyly174200C0220697OMIM02445374319165240
HP:0001159HP:0001159Syndactyly2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM064824868605837
HP:0001159HP:0001159Syndactyly2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03116109601491
HP:0001159HP:0001159Syndactyly2IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM064014361606195
HP:0001159HP:0001159Syndactyly2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM0204536814605283
HP:0001159HP:0001159Syndactyly2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM0323317114603856
HP:0001159HP:0001159Syndactyly2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0001159HP:0001159Syndactyly2NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0001159HP:0001159Syndactyly2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM023147675602117
HP:0001159HP:0001159Syndactyly2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03431190610922
HP:0001159HP:0001159Syndactyly2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031130089600161
HP:0001159HP:0001159Syndactyly2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032233235611215
HP:0001159HP:0001159Syndactyly2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM0131499811606462
HP:0001159HP:0001159Syndactyly2SBF1 CL E G H6305615284Charcot-Marie-Tooth disease, type 4B3615284C3695063OMIM01430310542603560
HP:0001159HP:0001159Syndactyly2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM023520662608744
HP:0001159HP:0001159Syndactyly2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031333020609837
HP:0001159HP:0001159Syndactyly2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM031433067605436
HP:0001159HP:0001159Syndactyly2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM02538511164182279
HP:0001159HP:0001159Syndactyly2TBX5 CL E G H6910142900Holt-Oram syndrome142900C0265264OMIM013231511604601620
HP:0001159HP:0001159Syndactyly2TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0001159HP:0001159Syndactyly2TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM01915037234614949
HP:0001159HP:0001159Syndactyly3C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM0626929615626
HP:0001159HP:0001159Syndactyly3CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM0691921713607465
HP:0001159HP:0001159Syndactyly3CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM011859425801614571
HP:0001159HP:0001159Syndactyly3EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM01074153373602700
HP:0001159HP:0001159Syndactyly3FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM03731723109612411
HP:0001159HP:0001159Syndactyly3GLI3 CL E G H2737174200Postaxial polydactyly174200C0220697OMIM02445374319165240
HP:0001159HP:0001159Syndactyly3HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM064824868605837
HP:0001159HP:0001159Syndactyly3IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03116109601491
HP:0001159HP:0001159Syndactyly3IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM064014361606195
HP:0001159HP:0001159Syndactyly3MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM0204536814605283
HP:0001159HP:0001159Syndactyly3MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM0323317114603856
HP:0001159HP:0001159Syndactyly3MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0001159HP:0001159Syndactyly3NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0001159HP:0001159Syndactyly3NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM023147675602117
HP:0001159HP:0001159Syndactyly3NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03431190610922
HP:0001159HP:0001159Syndactyly3PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031130089600161
HP:0001159HP:0001159Syndactyly3PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032233235611215
HP:0001159HP:0001159Syndactyly3RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM0131499811606462
HP:0001159HP:0001159Syndactyly3SBF1 CL E G H6305615284Charcot-Marie-Tooth disease, type 4B3615284C3695063OMIM01430310542603560
HP:0001159HP:0001159Syndactyly3SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM023520662608744
HP:0001159HP:0001159Syndactyly3SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031333020609837
HP:0001159HP:0001159Syndactyly3SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM031433067605436
HP:0001159HP:0001159Syndactyly3SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM02538511164182279
HP:0001159HP:0001159Syndactyly3TBX5 CL E G H6910142900Holt-Oram syndrome142900C0265264OMIM013231511604601620
HP:0001159HP:0001159Syndactyly3TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0001159HP:0001159Syndactyly3TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM01915037234614949


Genes (289) :ABCC9 ADAMTS3 AKT1 ANKRD11 APC ARCN1 ARHGAP31 ARL6 ARL6IP6 ASXL1 ATP6V1B2 B3GLCT BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BCR BHLHA9 BLM BMP2 BMP4 BMPR1B BRCA1 BRCA2 BRIP1 BTRC C15ORF41 C8ORF37 CACNA1C CACNA1G CCBE1 CCDC22 CCNQ CD96 CDAN1 CDC45 CDH1 CDH3 CEP120 CEP290 CEP55 CHRNG CHSY1 CKAP2L CLCF1 COL4A3BP CPLANE1 CREBBP CRKL CTNND1 CTNND2 CUL4B DACT1 DCHS1 DDX11 DEAF1 DHCR7 DHODH DLL3 DLL4 DLX5 DLX6 DOCK6 DSP DVL1 DVL3 DYNC2H1 DYNC2LI1 EBP EED EFNB1 EOGT EP300 EPS15L1 ERCC4 ERF ESCO2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FERMT1 FGD1 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FLI1 FLII FLNA FLNB FRAS1 FREM2 FZD2 GDF5 GJA1 GJB6 GLI3 GNE GPC3 GPC4 GRIP1 H19 HDAC4 HDAC8 HERC2 HES7 HOXA11 HOXD13 ICK IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT80 IFT81 IGF2 IKBKG IL11RA IPW IQSEC2 IRF6 IRX5 KCNJ2 KCNJ8 KCTD1 KIAA0753 KIAA1109 KIF1BP KIF7 KMT2A LEMD3 LFNG LIG4 LMBR1 LMNA LRP4 LZTFL1 MAD2L2 MAGEL2 MAP3K20 MAPK1 MCTP2 MECOM MED12 MEF2C MEGF8 MEIS2 MESP2 MKKS MKRN3 MKRN3-AS1 MKS1 MYCN MYH8 NAA10 NBAS NDN NECTIN1 NECTIN4 NEDD4L NEK1 NEK9 NIPBL NOG NOTCH1 NPAP1 NPHP1 NSD1 NSUN2 NXN OFD1 ORC1 OTUD6B PALB2 PAX3 PDE6D PHGDH PIEZO2 PIGY PIK3CA PITX1 PLXND1 PNPLA6 PORCN PRKD1 PTDSS1 PTEN PWAR1 PWRN1 RAB23 RAD21 RAD51 RAD51C RAI1 RB1 RBBP8 RBM10 RBM8A RBPJ REV3L RFWD3 RIPK4 RIPPLY2 ROR2 RPL10 SALL1 SALL4 SBF1 SC5D SDCCAG8 SEM1 SEMA5A SETD5 SF3B4 SHANK3 SHH SIK3 SIN3A SLC12A6 SLC25A24 SLX4 SMAD4 SMARCAD1 SMC1A SMC3 SMO SMOC1 SNORD115-1 SNORD116-1 SNRPN SOST SOX5 SPECC1L SUZ12 TBC1D24 TBR1 TBX15 TBX22 TBX5 TCTN3 TFAP2B TGFBR2 TMEM216 TMEM231 TMEM94 TP63 TRIM32 TRIO TTC21B TTC8 TWIST1 TWIST2 TXNL4A UBE2T UBE3A VAC14 VPS13B WASHC5 WDPCP WDR19 WDR34 WDR35 WDR60 WNT10B WNT5A WNT7A XRCC2 YY1AP1 ZSWIM6

Diseases (302) :148050 605039 261540 209900 615982 615983 309800 210900 615631 601005 618087 300963 224120 225280 265000 605282 2754 614615 180849 263750 616589 609638 613684 268300 616006 305400 615465 3472 300244 174200 180860 176270 605432 612651 614099 617866 617895 611174 135750 174500 610140 212780 305450 605231 236700 249000 614800 616028 311200 615665 602501 617364 151050 614701 263650 113000 607323 615284 612289 601707 142900 610168 614970 603543 129400 605289 220210 613610 614091 615503 79094 602531 603671 1517 2136 744 2332 3258 100300 974 110 1556 124480 709 568 261330 157801 607539 3329 125 139471 607932 84 2440 7 140952 300707 211750 1308 1997 119580 1897 474 2990 272440 3255 277170 281 85293 857 819 818 246 2311 3107 3447 1520 304110 2343 3103 608180 2908 915 93258 101600 93259 93260 87 794 168624 101400 216340 2308 311300 304120 1263 503 2052 3250 93404 2710 189 380 672 146510 373 617667 1001 199 300882 71289 93409 887 610713 186000 1515 464 217377 1300 170390 617822 66629 166024 200990 235 3332 2378 93405 616890 228384 65759 600987 2473 3253 2751 64754 140908 184460 1507 2750 505237 256520 376 60040 570 2377 2092 305600 2658 201000 1587 311900 3320 274000 1234 93383 435938 959 46059 607330 1788 154400 94065 613406 610759 1553 1106 206920 1519 79500 1617 260660 921 392 2753 258860 46627 618316 978 69085 1071 103285 1896 604292 617746 200110 920 238446 193 225300 228930 617164 2712 300166 609432 112600 235510 617063 236500 610313 616351 601390 613398 270400 300960 615546 149730 612961 123150 101200 1540 219000 164200 257850 186100 175700 174700 3166 269921 312870 93406 186300 614188 119500 181270 1306 186200 3152 614305 614976 164280 158300 225060 613573 617201 122470 611377 186500 224690 896 148820 114300 616809 276280 186550 251255 614814 107480 606232 618162 218000 139210 129200 269500 313892 106260 617061 608572 1338 217085 614378 1596
 

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