Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Parent Node:
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Syndactyly (HP:0001159)help
..Starting node
..expand
Finger syndactyly (HP:0006101)help
Term ID: 6101
Name: Finger syndactyly
Synonym: Partial syndactyly
Definition: Webbing or fusion of the fingers, 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 in a proximo-distal axis are referred to as "Symphalangism".
Comments:
Reference: HP:0006101
Genes and Diseases:
 
       Child Nodes:
........expand2-3 finger syndactyly (HP:0001233) help
........expand3-4 finger syndactyly (HP:0006097) help
........expandOsseous finger syndactyly (HP:0010492) help
........expandCutaneous finger syndactyly (HP:0010554) help
................... HP:0005650 Cutaneous syndactyly between fingers 2 and 5
................... HP:0006088 1-5 finger complete cutaneous syndactyly
................... HP:0011939 3-4 finger cutaneous syndactyly
........expand2-5 finger syndactyly (HP:0010692) help
........expand1-2 finger syndactyly (HP:0010704) help
........expand4-5 finger syndactyly (HP:0010705) help
........expand1-3 finger syndactyly (HP:0010706) help
........expand1-4 finger syndactyly (HP:0010707) help
........expand1-5 finger syndactyly (HP:0010708) help
........expand2-4 finger syndactyly (HP:0010709) help
........expand3-5 finger syndactyly (HP:0010710) help

 Sister Nodes: 
..expandCutaneous syndactyly (HP:0012725) help
..expandToe syndactyly (HP:0001770) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006101HP:0006101Finger syndactyly0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0006101HP:0006101Finger syndactyly0APC CL E G H3243258Lindstrom syndromeORPHA119517734583611731
HP:0006101HP:0006101Finger syndactyly0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0006101HP:0006101Finger syndactyly0BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0006101HP:0006101Finger syndactyly0BHLHA9 CL E G H727857157801ORPHA14411835126615416
HP:0006101HP:0006101Finger syndactyly0BTRC CL E G H89452440ORPHA16561144603482
HP:0006101HP:0006101Finger syndactyly0CDH1 CL E G H9991997ORPHA126424541748192090
HP:0006101HP:0006101Finger syndactyly0CDH3 CL E G H10011897ORPHA1312441762114021
HP:0006101HP:0006101Finger syndactyly0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0006101HP:0006101Finger syndactyly0CTNND1 CL E G H15001997ORPHA117352515601045
HP:0006101HP:0006101Finger syndactyly0DHODH CL E G H1723246Schisis associationORPHA1201252867126064
HP:0006101HP:0006101Finger syndactyly0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0006101HP:0006101Finger syndactyly0DLX5 CL E G H17492440ORPHA111272918600028
HP:0006101HP:0006101Finger syndactyly0DLX6 CL E G H17502440ORPHA14202919600030
HP:0006101HP:0006101Finger syndactyly0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0006101HP:0006101Finger syndactyly0EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0006101HP:0006101Finger syndactyly0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0006101HP:0006101Finger syndactyly0EPS15L1 CL E G H585132440ORPHA111424634616826
HP:0006101HP:0006101Finger syndactyly0ERF CL E G H20772343ORPHA119753444611888
HP:0006101HP:0006101Finger syndactyly0FERMT1 CL E G H556122908ORPHA18322515889607900
HP:0006101HP:0006101Finger syndactyly0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0006101HP:0006101Finger syndactyly0FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0006101HP:0006101Finger syndactyly0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0006101HP:0006101Finger syndactyly0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly0FGFR2 CL E G H226387ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly0FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly0FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0006101HP:0006101Finger syndactyly0FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0006101HP:0006101Finger syndactyly0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0006101HP:0006101Finger syndactyly0FLNB CL E G H23171263ORPHA11225203755603381
HP:0006101HP:0006101Finger syndactyly0FRAS1 CL E G H801442052ORPHA16167519185607830
HP:0006101HP:0006101Finger syndactyly0FREM2 CL E G H3416402052ORPHA12551025396608945
HP:0006101HP:0006101Finger syndactyly0GJA1 CL E G H269793404ORPHA11091414274121014
HP:0006101HP:0006101Finger syndactyly0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0006101HP:0006101Finger syndactyly0GLI3 CL E G H2737380ORPHA12445374319165240
HP:0006101HP:0006101Finger syndactyly0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0006101HP:0006101Finger syndactyly0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0006101HP:0006101Finger syndactyly0GRIP1 CL E G H234262052ORPHA11815918708604597
HP:0006101HP:0006101Finger syndactyly0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0006101HP:0006101Finger syndactyly0HOXD13 CL E G H3239610713Brachydactyly-syndactyly syndrome610713C1853137OMIM142715136142989
HP:0006101HP:0006101Finger syndactyly0HOXD13 CL E G H3239186000Synpolydactyly 1186000C2699746OMIM142715136142989
HP:0006101HP:0006101Finger syndactyly0IFT122 CL E G H557641515ORPHA12319913556606045
HP:0006101HP:0006101Finger syndactyly0IFT43 CL E G H1127521515ORPHA176429669614068
HP:0006101HP:0006101Finger syndactyly0IFT52 CL E G H510981515ORPHA153415901617094
HP:0006101HP:0006101Finger syndactyly0IRF6 CL E G H36641300ORPHA13422046121607199
HP:0006101HP:0006101Finger syndactyly0KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0006101HP:0006101Finger syndactyly0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0006101HP:0006101Finger syndactyly0LMBR1 CL E G H643273332ORPHA11124013243605522
HP:0006101HP:0006101Finger syndactyly0LMBR1 CL E G H643272378ORPHA11124013243605522
HP:0006101HP:0006101Finger syndactyly0LRP4 CL E G H40383258Lindstrom syndromeORPHA1343756696604270
HP:0006101HP:0006101Finger syndactyly0MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0006101HP:0006101Finger syndactyly0NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0006101HP:0006101Finger syndactyly0NECTIN1 CL E G H58183253Limb dystoniaORPHA1151959706600644
HP:0006101HP:0006101Finger syndactyly0NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA1303117744604588
HP:0006101HP:0006101Finger syndactyly0NOG CL E G H9241140908ORPHA164477866602991
HP:0006101HP:0006101Finger syndactyly0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0006101HP:0006101Finger syndactyly0OFD1 CL E G H84812750ORPHA11625102567300170
HP:0006101HP:0006101Finger syndactyly0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0006101HP:0006101Finger syndactyly0PIK3CA CL E G H529060040ORPHA1573798975171834
HP:0006101HP:0006101Finger syndactyly0PNPLA6 CL E G H109082377ORPHA16137916268603197
HP:0006101HP:0006101Finger syndactyly0PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0006101HP:0006101Finger syndactyly0PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0006101HP:0006101Finger syndactyly0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0006101HP:0006101Finger syndactyly0RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0006101HP:0006101Finger syndactyly0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0006101HP:0006101Finger syndactyly0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0006101HP:0006101Finger syndactyly0RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0006101HP:0006101Finger syndactyly0RPL10 CL E G H6134435938ORPHA1624210298312173
HP:0006101HP:0006101Finger syndactyly0SEM1 CL E G H79792440ORPHA181810845601285
HP:0006101HP:0006101Finger syndactyly0SHH CL E G H64693332ORPHA122121010848600725
HP:0006101HP:0006101Finger syndactyly0SMO CL E G H66081553ORPHA177111119601500
HP:0006101HP:0006101Finger syndactyly0SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0006101HP:0006101Finger syndactyly0SPECC1L CL E G H233841519ORPHA1815629022614140
HP:0006101HP:0006101Finger syndactyly0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0006101HP:0006101Finger syndactyly0TP63 CL E G H86262440ORPHA112828215979603273
HP:0006101HP:0006101Finger syndactyly0TP63 CL E G H8626978ORPHA112828215979603273
HP:0006101HP:0006101Finger syndactyly0TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0006101HP:0006101Finger syndactyly0VPS13B CL E G H157680193ORPHA121316062183607817
HP:0006101HP:0006101Finger syndactyly0WDR19 CL E G H577281515ORPHA14529418340608151
HP:0006101HP:0006101Finger syndactyly0WDR35 CL E G H575391515ORPHA13129229250613602
HP:0006101HP:0006101Finger syndactyly0WNT10B CL E G H74802440ORPHA1203712775601906
HP:0006101HP:0006101Finger syndactyly0WNT10B CL E G H7480225300Split-hand/foot malformation 6225300C2749665OMIM1203712775601906
HP:0006101HP:0006101Finger syndactyly1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0006101HP:0006101Finger syndactyly1APC CL E G H3243258Lindstrom syndromeORPHA119517734583611731
HP:0006101HP:0006101Finger syndactyly1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0006101HP:0006101Finger syndactyly1BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0006101HP:0006101Finger syndactyly1BHLHA9 CL E G H727857157801ORPHA14411835126615416
HP:0006101HP:0006101Finger syndactyly1BTRC CL E G H89452440ORPHA16561144603482
HP:0006101HP:0006101Finger syndactyly1CDH1 CL E G H9991997ORPHA126424541748192090
HP:0006101HP:0006101Finger syndactyly1CDH3 CL E G H10011897ORPHA1312441762114021
HP:0006101HP:0006101Finger syndactyly1CHRNG CL E G H11462990ORPHA1351601967100730
HP:0006101HP:0006101Finger syndactyly1CTNND1 CL E G H15001997ORPHA117352515601045
HP:0006101HP:0006101Finger syndactyly1DHODH CL E G H1723246Schisis associationORPHA1201252867126064
HP:0006101HP:0006101Finger syndactyly1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0006101HP:0006101Finger syndactyly1DLX5 CL E G H17492440ORPHA111272918600028
HP:0006101HP:0006101Finger syndactyly1DLX6 CL E G H17502440ORPHA14202919600030
HP:0006101HP:0006101Finger syndactyly1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0006101HP:0006101Finger syndactyly1EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0006101HP:0006101Finger syndactyly1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0006101HP:0006101Finger syndactyly1EPS15L1 CL E G H585132440ORPHA111424634616826
HP:0006101HP:0006101Finger syndactyly1ERF CL E G H20772343ORPHA119753444611888
HP:0006101HP:0006101Finger syndactyly1FERMT1 CL E G H556122908ORPHA18322515889607900
HP:0006101HP:0006101Finger syndactyly1FGD1 CL E G H2245915ORPHA1512763663300546
HP:0006101HP:0006101Finger syndactyly1FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0006101HP:0006101Finger syndactyly1FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0006101HP:0006101Finger syndactyly1FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly1FGFR2 CL E G H226387ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly1FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly1FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly1FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly1FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0006101HP:0006101Finger syndactyly1FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0006101HP:0006101Finger syndactyly1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0006101HP:0006101Finger syndactyly1FLNB CL E G H23171263ORPHA11225203755603381
HP:0006101HP:0006101Finger syndactyly1FRAS1 CL E G H801442052ORPHA16167519185607830
HP:0006101HP:0006101Finger syndactyly1FREM2 CL E G H3416402052ORPHA12551025396608945
HP:0006101HP:0006101Finger syndactyly1GJA1 CL E G H269793404ORPHA11091414274121014
HP:0006101HP:0006101Finger syndactyly1GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0006101HP:0006101Finger syndactyly1GLI3 CL E G H2737380ORPHA12445374319165240
HP:0006101HP:0006101Finger syndactyly1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0006101HP:0006101Finger syndactyly1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0006101HP:0006101Finger syndactyly1GRIP1 CL E G H234262052ORPHA11815918708604597
HP:0006101HP:0006101Finger syndactyly1HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0006101HP:0006101Finger syndactyly1HOXD13 CL E G H3239610713Brachydactyly-syndactyly syndrome610713C1853137OMIM142715136142989
HP:0006101HP:0006101Finger syndactyly1HOXD13 CL E G H3239186000Synpolydactyly 1186000C2699746OMIM142715136142989
HP:0006101HP:0006101Finger syndactyly1IFT122 CL E G H557641515ORPHA12319913556606045
HP:0006101HP:0006101Finger syndactyly1IFT43 CL E G H1127521515ORPHA176429669614068
HP:0006101HP:0006101Finger syndactyly1IFT52 CL E G H510981515ORPHA153415901617094
HP:0006101HP:0006101Finger syndactyly1IRF6 CL E G H36641300ORPHA13422046121607199
HP:0006101HP:0006101Finger syndactyly1KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0006101HP:0006101Finger syndactyly1KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0006101HP:0006101Finger syndactyly1LMBR1 CL E G H643273332ORPHA11124013243605522
HP:0006101HP:0006101Finger syndactyly1LMBR1 CL E G H643272378ORPHA11124013243605522
HP:0006101HP:0006101Finger syndactyly1LRP4 CL E G H40383258Lindstrom syndromeORPHA1343756696604270
HP:0006101HP:0006101Finger syndactyly1MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0006101HP:0006101Finger syndactyly1NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0006101HP:0006101Finger syndactyly1NECTIN1 CL E G H58183253Limb dystoniaORPHA1151959706600644
HP:0006101HP:0006101Finger syndactyly1NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA1303117744604588
HP:0006101HP:0006101Finger syndactyly1NOG CL E G H9241140908ORPHA164477866602991
HP:0006101HP:0006101Finger syndactyly1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0006101HP:0006101Finger syndactyly1OFD1 CL E G H84812750ORPHA11625102567300170
HP:0006101HP:0006101Finger syndactyly1PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0006101HP:0006101Finger syndactyly1PIK3CA CL E G H529060040ORPHA1573798975171834
HP:0006101HP:0006101Finger syndactyly1PNPLA6 CL E G H109082377ORPHA16137916268603197
HP:0006101HP:0006101Finger syndactyly1PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0006101HP:0006101Finger syndactyly1PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0006101HP:0006101Finger syndactyly1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0006101HP:0006101Finger syndactyly1RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0006101HP:0006101Finger syndactyly1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0006101HP:0006101Finger syndactyly1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0006101HP:0006101Finger syndactyly1RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0006101HP:0006101Finger syndactyly1RPL10 CL E G H6134435938ORPHA1624210298312173
HP:0006101HP:0006101Finger syndactyly1SEM1 CL E G H79792440ORPHA181810845601285
HP:0006101HP:0006101Finger syndactyly1SHH CL E G H64693332ORPHA122121010848600725
HP:0006101HP:0006101Finger syndactyly1SMO CL E G H66081553ORPHA177111119601500
HP:0006101HP:0006101Finger syndactyly1SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0006101HP:0006101Finger syndactyly1SPECC1L CL E G H233841519ORPHA1815629022614140
HP:0006101HP:0006101Finger syndactyly1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0006101HP:0006101Finger syndactyly1TP63 CL E G H86262440ORPHA112828215979603273
HP:0006101HP:0006101Finger syndactyly1TP63 CL E G H8626978ORPHA112828215979603273
HP:0006101HP:0006101Finger syndactyly1TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0006101HP:0006101Finger syndactyly1VPS13B CL E G H157680193ORPHA121316062183607817
HP:0006101HP:0006101Finger syndactyly1WDR19 CL E G H577281515ORPHA14529418340608151
HP:0006101HP:0006101Finger syndactyly1WDR35 CL E G H575391515ORPHA13129229250613602
HP:0006101HP:0006101Finger syndactyly1WNT10B CL E G H74802440ORPHA1203712775601906
HP:0006101HP:0006101Finger syndactyly1WNT10B CL E G H7480225300Split-hand/foot malformation 6225300C2749665OMIM1203712775601906
HP:0006101HP:0006101Finger syndactyly2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0006101HP:0006101Finger syndactyly2APC CL E G H3243258Lindstrom syndromeORPHA119517734583611731
HP:0006101HP:0006101Finger syndactyly2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0006101HP:0006101Finger syndactyly2BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0006101HP:0006101Finger syndactyly2BHLHA9 CL E G H727857157801ORPHA14411835126615416
HP:0006101HP:0006101Finger syndactyly2BTRC CL E G H89452440ORPHA16561144603482
HP:0006101HP:0006101Finger syndactyly2CDH1 CL E G H9991997ORPHA126424541748192090
HP:0006101HP:0006101Finger syndactyly2CDH3 CL E G H10011897ORPHA1312441762114021
HP:0006101HP:0006101Finger syndactyly2CHRNG CL E G H11462990ORPHA1351601967100730
HP:0006101HP:0006101Finger syndactyly2CTNND1 CL E G H15001997ORPHA117352515601045
HP:0006101HP:0006101Finger syndactyly2DHODH CL E G H1723246Schisis associationORPHA1201252867126064
HP:0006101HP:0006101Finger syndactyly2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0006101HP:0006101Finger syndactyly2DLX5 CL E G H17492440ORPHA111272918600028
HP:0006101HP:0006101Finger syndactyly2DLX6 CL E G H17502440ORPHA14202919600030
HP:0006101HP:0006101Finger syndactyly2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0006101HP:0006101Finger syndactyly2EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0006101HP:0006101Finger syndactyly2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0006101HP:0006101Finger syndactyly2EPS15L1 CL E G H585132440ORPHA111424634616826
HP:0006101HP:0006101Finger syndactyly2ERF CL E G H20772343ORPHA119753444611888
HP:0006101HP:0006101Finger syndactyly2FERMT1 CL E G H556122908ORPHA18322515889607900
HP:0006101HP:0006101Finger syndactyly2FGD1 CL E G H2245915ORPHA1512763663300546
HP:0006101HP:0006101Finger syndactyly2FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0006101HP:0006101Finger syndactyly2FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0006101HP:0006101Finger syndactyly2FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly2FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly2FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly2FGFR2 CL E G H226387ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly2FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0006101HP:0006101Finger syndactyly2FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0006101HP:0006101Finger syndactyly2FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0006101HP:0006101Finger syndactyly2FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0006101HP:0006101Finger syndactyly2FLNB CL E G H23171263ORPHA11225203755603381
HP:0006101HP:0006101Finger syndactyly2FRAS1 CL E G H801442052ORPHA16167519185607830
HP:0006101HP:0006101Finger syndactyly2FREM2 CL E G H3416402052ORPHA12551025396608945
HP:0006101HP:0006101Finger syndactyly2GJA1 CL E G H269793404ORPHA11091414274121014
HP:0006101HP:0006101Finger syndactyly2GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0006101HP:0006101Finger syndactyly2GLI3 CL E G H2737380ORPHA12445374319165240
HP:0006101HP:0006101Finger syndactyly2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0006101HP:0006101Finger syndactyly2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0006101HP:0006101Finger syndactyly2GRIP1 CL E G H234262052ORPHA11815918708604597
HP:0006101HP:0006101Finger syndactyly2HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0006101HP:0006101Finger syndactyly2HOXD13 CL E G H3239610713Brachydactyly-syndactyly syndrome610713C1853137OMIM142715136142989
HP:0006101HP:0006101Finger syndactyly2HOXD13 CL E G H3239186000Synpolydactyly 1186000C2699746OMIM142715136142989
HP:0006101HP:0006101Finger syndactyly2IFT122 CL E G H557641515ORPHA12319913556606045
HP:0006101HP:0006101Finger syndactyly2IFT43 CL E G H1127521515ORPHA176429669614068
HP:0006101HP:0006101Finger syndactyly2IFT52 CL E G H510981515ORPHA153415901617094
HP:0006101HP:0006101Finger syndactyly2IRF6 CL E G H36641300ORPHA13422046121607199
HP:0006101HP:0006101Finger syndactyly2KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0006101HP:0006101Finger syndactyly2KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0006101HP:0006101Finger syndactyly2LMBR1 CL E G H643273332ORPHA11124013243605522
HP:0006101HP:0006101Finger syndactyly2LMBR1 CL E G H643272378ORPHA11124013243605522
HP:0006101HP:0006101Finger syndactyly2LRP4 CL E G H40383258Lindstrom syndromeORPHA1343756696604270
HP:0006101HP:0006101Finger syndactyly2MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0006101HP:0006101Finger syndactyly2NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0006101HP:0006101Finger syndactyly2NECTIN1 CL E G H58183253Limb dystoniaORPHA1151959706600644
HP:0006101HP:0006101Finger syndactyly2NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA1303117744604588
HP:0006101HP:0006101Finger syndactyly2NOG CL E G H9241140908ORPHA164477866602991
HP:0006101HP:0006101Finger syndactyly2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0006101HP:0006101Finger syndactyly2OFD1 CL E G H84812750ORPHA11625102567300170
HP:0006101HP:0006101Finger syndactyly2PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0006101HP:0006101Finger syndactyly2PIK3CA CL E G H529060040ORPHA1573798975171834
HP:0006101HP:0006101Finger syndactyly2PNPLA6 CL E G H109082377ORPHA16137916268603197
HP:0006101HP:0006101Finger syndactyly2PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0006101HP:0006101Finger syndactyly2PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0006101HP:0006101Finger syndactyly2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0006101HP:0006101Finger syndactyly2RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0006101HP:0006101Finger syndactyly2RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0006101HP:0006101Finger syndactyly2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0006101HP:0006101Finger syndactyly2RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0006101HP:0006101Finger syndactyly2RPL10 CL E G H6134435938ORPHA1624210298312173
HP:0006101HP:0006101Finger syndactyly2SEM1 CL E G H79792440ORPHA181810845601285
HP:0006101HP:0006101Finger syndactyly2SHH CL E G H64693332ORPHA122121010848600725
HP:0006101HP:0006101Finger syndactyly2SMO CL E G H66081553ORPHA177111119601500
HP:0006101HP:0006101Finger syndactyly2SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0006101HP:0006101Finger syndactyly2SPECC1L CL E G H233841519ORPHA1815629022614140
HP:0006101HP:0006101Finger syndactyly2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0006101HP:0006101Finger syndactyly2TP63 CL E G H8626978ORPHA112828215979603273
HP:0006101HP:0006101Finger syndactyly2TP63 CL E G H86262440ORPHA112828215979603273
HP:0006101HP:0006101Finger syndactyly2TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0006101HP:0006101Finger syndactyly2VPS13B CL E G H157680193ORPHA121316062183607817
HP:0006101HP:0006101Finger syndactyly2WDR19 CL E G H577281515ORPHA14529418340608151
HP:0006101HP:0006101Finger syndactyly2WDR35 CL E G H575391515ORPHA13129229250613602
HP:0006101HP:0006101Finger syndactyly2WNT10B CL E G H74802440ORPHA1203712775601906
HP:0006101HP:0006101Finger syndactyly2WNT10B CL E G H7480225300Split-hand/foot malformation 6225300C2749665OMIM1203712775601906
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006101HP:0006101Finger syndactyly0ABCC9 CL E G H100601517ORPHA04965860601439
HP:0006101HP:0006101Finger syndactyly0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA0438219605011
HP:0006101HP:0006101Finger syndactyly0ARL6 CL E G H84100110ORPHA0217913210608845
HP:0006101HP:0006101Finger syndactyly0ARL6IP6 CL E G H1511881556ORPHA031924048616495
HP:0006101HP:0006101Finger syndactyly0BBIP1 CL E G H92482110ORPHA014328093613605
HP:0006101HP:0006101Finger syndactyly0BBS1 CL E G H582110ORPHA0105309966209901
HP:0006101HP:0006101Finger syndactyly0BBS10 CL E G H79738110ORPHA010931726291610148
HP:0006101HP:0006101Finger syndactyly0BBS12 CL E G H166379110ORPHA06123726648610683
HP:0006101HP:0006101Finger syndactyly0BBS2 CL E G H583110ORPHA096277967606151
HP:0006101HP:0006101Finger syndactyly0BBS4 CL E G H585110ORPHA054217969600374
HP:0006101HP:0006101Finger syndactyly0BBS5 CL E G H129880110ORPHA03186970603650
HP:0006101HP:0006101Finger syndactyly0BBS7 CL E G H55212110ORPHA04417518758607590
HP:0006101HP:0006101Finger syndactyly0BBS9 CL E G H27241110ORPHA05329230000607968
HP:0006101HP:0006101Finger syndactyly0BHLHA9 CL E G H7278573329Lymphoblastic lymphomaORPHA04411835126615416
HP:0006101HP:0006101Finger syndactyly0BLM CL E G H641125ORPHA013115161058604610
HP:0006101HP:0006101Finger syndactyly0BMP4 CL E G H652139471ORPHA048891071112262
HP:0006101HP:0006101Finger syndactyly0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0006101HP:0006101Finger syndactyly0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0006101HP:0006101Finger syndactyly0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0006101HP:0006101Finger syndactyly0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0006101HP:0006101Finger syndactyly0C8orf37 CL E G H157657110ORPHA01711927232614477
HP:0006101HP:0006101Finger syndactyly0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA01330529426612753
HP:0006101HP:0006101Finger syndactyly0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0006101HP:0006101Finger syndactyly0CEP290 CL E G H80184110ORPHA031088429021610142
HP:0006101HP:0006101Finger syndactyly0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA074226877616174
HP:0006101HP:0006101Finger syndactyly0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA0371612516604275
HP:0006101HP:0006101Finger syndactyly0DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0006101HP:0006101Finger syndactyly0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0261262909602768
HP:0006101HP:0006101Finger syndactyly0DVL1 CL E G H18553107ORPHA0192443084601365
HP:0006101HP:0006101Finger syndactyly0DVL3 CL E G H18573107ORPHA015773087601368
HP:0006101HP:0006101Finger syndactyly0EED CL E G H87263447ORPHA09493188605984
HP:0006101HP:0006101Finger syndactyly0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0006101HP:0006101Finger syndactyly0ESCO2 CL E G H1575703103ORPHA03121527230609353
HP:0006101HP:0006101Finger syndactyly0EZH2 CL E G H21463447ORPHA0422353527601573
HP:0006101HP:0006101Finger syndactyly0FANCA CL E G H217584ORPHA068917063582607139
HP:0006101HP:0006101Finger syndactyly0FANCB CL E G H218784ORPHA0213523583300515
HP:0006101HP:0006101Finger syndactyly0FANCC CL E G H217684ORPHA0658823584613899
HP:0006101HP:0006101Finger syndactyly0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0006101HP:0006101Finger syndactyly0FANCE CL E G H217884ORPHA0172013586613976
HP:0006101HP:0006101Finger syndactyly0FANCF CL E G H218884ORPHA0162023587613897
HP:0006101HP:0006101Finger syndactyly0FANCG CL E G H218984ORPHA0923253588602956
HP:0006101HP:0006101Finger syndactyly0FANCI CL E G H5521584ORPHA04552125568611360
HP:0006101HP:0006101Finger syndactyly0FANCL CL E G H5512084ORPHA02417620748608111
HP:0006101HP:0006101Finger syndactyly0FANCM CL E G H5769784ORPHA05369723168609644
HP:0006101HP:0006101Finger syndactyly0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA03731723109612411
HP:0006101HP:0006101Finger syndactyly0FLNB CL E G H2317503ORPHA01225203755603381
HP:0006101HP:0006101Finger syndactyly0FZD2 CL E G H25353107ORPHA07304040600667
HP:0006101HP:0006101Finger syndactyly0GDF5 CL E G H82003250ORPHA059984220601146
HP:0006101HP:0006101Finger syndactyly0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA0341574288604418
HP:0006101HP:0006101Finger syndactyly0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA064515977608059
HP:0006101HP:0006101Finger syndactyly0HOXA11 CL E G H320771289ORPHA02405101142958
HP:0006101HP:0006101Finger syndactyly0HOXD13 CL E G H3239887Biliary atresia intrahepatic non syndromic formORPHA042715136142989
HP:0006101HP:0006101Finger syndactyly0IFT172 CL E G H26160110ORPHA02726930391607386
HP:0006101HP:0006101Finger syndactyly0IFT27 CL E G H11020110ORPHA045218626615870
HP:0006101HP:0006101Finger syndactyly0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0006101HP:0006101Finger syndactyly0KCNJ8 CL E G H37641517ORPHA08876269600935
HP:0006101HP:0006101Finger syndactyly0KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0006101HP:0006101Finger syndactyly0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA071096560602576
HP:0006101HP:0006101Finger syndactyly0LZTFL1 CL E G H54585110ORPHA03406741606568
HP:0006101HP:0006101Finger syndactyly0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0006101HP:0006101Finger syndactyly0MECOM CL E G H212271289ORPHA029493498165215
HP:0006101HP:0006101Finger syndactyly0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0615429659605195
HP:0006101HP:0006101Finger syndactyly0MKKS CL E G H8195110ORPHA0601947108604896
HP:0006101HP:0006101Finger syndactyly0MKKS CL E G H81952473ORPHA0601947108604896
HP:0006101HP:0006101Finger syndactyly0MKS1 CL E G H54903110ORPHA0523347121609883
HP:0006101HP:0006101Finger syndactyly0NEK9 CL E G H9175464754ORPHA034518591609798
HP:0006101HP:0006101Finger syndactyly0NOG CL E G H92413250ORPHA064477866602991
HP:0006101HP:0006101Finger syndactyly0NPHP1 CL E G H4867110ORPHA0794037905607100
HP:0006101HP:0006101Finger syndactyly0NSD1 CL E G H643243447ORPHA052589614234606681
HP:0006101HP:0006101Finger syndactyly0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA0513018008612895
HP:0006101HP:0006101Finger syndactyly0PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0006101HP:0006101Finger syndactyly0PIEZO2 CL E G H63895376ORPHA03232926270613629
HP:0006101HP:0006101Finger syndactyly0PLXND1 CL E G H23129570ORPHA081049107604282
HP:0006101HP:0006101Finger syndactyly0RAD51 CL E G H588884ORPHA016369817179617
HP:0006101HP:0006101Finger syndactyly0RAD51C CL E G H588984ORPHA013111309820602774
HP:0006101HP:0006101Finger syndactyly0RBM8A CL E G H99393320ORPHA0142059905605313
HP:0006101HP:0006101Finger syndactyly0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM0142059905605313
HP:0006101HP:0006101Finger syndactyly0REV3L CL E G H5980570ORPHA091249968602776
HP:0006101HP:0006101Finger syndactyly0RFWD3 CL E G H5515984ORPHA024925539614151
HP:0006101HP:0006101Finger syndactyly0RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA033921390609891
HP:0006101HP:0006101Finger syndactyly0ROR2 CL E G H492093383ORPHA04025810257602337
HP:0006101HP:0006101Finger syndactyly0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA04025810257602337
HP:0006101HP:0006101Finger syndactyly0SALL4 CL E G H57167959ORPHA05714815924607343
HP:0006101HP:0006101Finger syndactyly0SDCCAG8 CL E G H10806110ORPHA01824910671613524
HP:0006101HP:0006101Finger syndactyly0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA0817410736609297
HP:0006101HP:0006101Finger syndactyly0SF3B4 CL E G H102621788ORPHA0385810771605593
HP:0006101HP:0006101Finger syndactyly0SLX4 CL E G H8446484ORPHA07281823845613278
HP:0006101HP:0006101Finger syndactyly0SUZ12 CL E G H235123447ORPHA037217101606245
HP:0006101HP:0006101Finger syndactyly0TBX5 CL E G H6910392Weinstein Kliman Scully syndromeORPHA013231511604601620
HP:0006101HP:0006101Finger syndactyly0TP63 CL E G H86261071ORPHA012828215979603273
HP:0006101HP:0006101Finger syndactyly0TP63 CL E G H86261896Dominant cleft palateORPHA012828215979603273
HP:0006101HP:0006101Finger syndactyly0TRIM32 CL E G H22954110ORPHA01632716380602290
HP:0006101HP:0006101Finger syndactyly0TTC8 CL E G H123016110ORPHA01612820087608132
HP:0006101HP:0006101Finger syndactyly0UBE2T CL E G H2908984ORPHA071825009610538
HP:0006101HP:0006101Finger syndactyly0UBE3A CL E G H7337238446ORPHA020275912496601623
HP:0006101HP:0006101Finger syndactyly0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657
HP:0006101HP:0006101Finger syndactyly0WDPCP CL E G H51057110ORPHA0817628027613580
HP:0006101HP:0006101Finger syndactyly0WNT5A CL E G H74743107ORPHA0115812784164975
HP:0006101HP:0006101Finger syndactyly0WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM0115012786601570
HP:0006101HP:0006101Finger syndactyly0XRCC2 CL E G H751684ORPHA02335812829600375
HP:0006101HP:0006101Finger syndactyly1ABCC9 CL E G H100601517ORPHA04965860601439
HP:0006101HP:0006101Finger syndactyly1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA0438219605011
HP:0006101HP:0006101Finger syndactyly1ARL6 CL E G H84100110ORPHA0217913210608845
HP:0006101HP:0006101Finger syndactyly1ARL6IP6 CL E G H1511881556ORPHA031924048616495
HP:0006101HP:0006101Finger syndactyly1BBIP1 CL E G H92482110ORPHA014328093613605
HP:0006101HP:0006101Finger syndactyly1BBS1 CL E G H582110ORPHA0105309966209901
HP:0006101HP:0006101Finger syndactyly1BBS10 CL E G H79738110ORPHA010931726291610148
HP:0006101HP:0006101Finger syndactyly1BBS12 CL E G H166379110ORPHA06123726648610683
HP:0006101HP:0006101Finger syndactyly1BBS2 CL E G H583110ORPHA096277967606151
HP:0006101HP:0006101Finger syndactyly1BBS4 CL E G H585110ORPHA054217969600374
HP:0006101HP:0006101Finger syndactyly1BBS5 CL E G H129880110ORPHA03186970603650
HP:0006101HP:0006101Finger syndactyly1BBS7 CL E G H55212110ORPHA04417518758607590
HP:0006101HP:0006101Finger syndactyly1BBS9 CL E G H27241110ORPHA05329230000607968
HP:0006101HP:0006101Finger syndactyly1BHLHA9 CL E G H7278573329Lymphoblastic lymphomaORPHA04411835126615416
HP:0006101HP:0006101Finger syndactyly1BLM CL E G H641125ORPHA013115161058604610
HP:0006101HP:0006101Finger syndactyly1BMP4 CL E G H652139471ORPHA048891071112262
HP:0006101HP:0006101Finger syndactyly1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0006101HP:0006101Finger syndactyly1BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0006101HP:0006101Finger syndactyly1BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0006101HP:0006101Finger syndactyly1BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0006101HP:0006101Finger syndactyly1C8orf37 CL E G H157657110ORPHA01711927232614477
HP:0006101HP:0006101Finger syndactyly1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA01330529426612753
HP:0006101HP:0006101Finger syndactyly1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0006101HP:0006101Finger syndactyly1CEP290 CL E G H80184110ORPHA031088429021610142
HP:0006101HP:0006101Finger syndactyly1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA074226877616174
HP:0006101HP:0006101Finger syndactyly1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA0371612516604275
HP:0006101HP:0006101Finger syndactyly1DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0006101HP:0006101Finger syndactyly1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0261262909602768
HP:0006101HP:0006101Finger syndactyly1DVL1 CL E G H18553107ORPHA0192443084601365
HP:0006101HP:0006101Finger syndactyly1DVL3 CL E G H18573107ORPHA015773087601368
HP:0006101HP:0006101Finger syndactyly1EED CL E G H87263447ORPHA09493188605984
HP:0006101HP:0006101Finger syndactyly1ERCC4 CL E G H207284ORPHA0723483436133520
HP:0006101HP:0006101Finger syndactyly1ESCO2 CL E G H1575703103ORPHA03121527230609353
HP:0006101HP:0006101Finger syndactyly1EZH2 CL E G H21463447ORPHA0422353527601573
HP:0006101HP:0006101Finger syndactyly1FANCA CL E G H217584ORPHA068917063582607139
HP:0006101HP:0006101Finger syndactyly1FANCB CL E G H218784ORPHA0213523583300515
HP:0006101HP:0006101Finger syndactyly1FANCC CL E G H217684ORPHA0658823584613899
HP:0006101HP:0006101Finger syndactyly1FANCD2 CL E G H217784ORPHA0644293585613984
HP:0006101HP:0006101Finger syndactyly1FANCE CL E G H217884ORPHA0172013586613976
HP:0006101HP:0006101Finger syndactyly1FANCF CL E G H218884ORPHA0162023587613897
HP:0006101HP:0006101Finger syndactyly1FANCG CL E G H218984ORPHA0923253588602956
HP:0006101HP:0006101Finger syndactyly1FANCI CL E G H5521584ORPHA04552125568611360
HP:0006101HP:0006101Finger syndactyly1FANCL CL E G H5512084ORPHA02417620748608111
HP:0006101HP:0006101Finger syndactyly1FANCM CL E G H5769784ORPHA05369723168609644
HP:0006101HP:0006101Finger syndactyly1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA03731723109612411
HP:0006101HP:0006101Finger syndactyly1FLNB CL E G H2317503ORPHA01225203755603381
HP:0006101HP:0006101Finger syndactyly1FZD2 CL E G H25353107ORPHA07304040600667
HP:0006101HP:0006101Finger syndactyly1GDF5 CL E G H82003250ORPHA059984220601146
HP:0006101HP:0006101Finger syndactyly1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA0341574288604418
HP:0006101HP:0006101Finger syndactyly1HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA064515977608059
HP:0006101HP:0006101Finger syndactyly1HOXA11 CL E G H320771289ORPHA02405101142958
HP:0006101HP:0006101Finger syndactyly1HOXD13 CL E G H3239887Biliary atresia intrahepatic non syndromic formORPHA042715136142989
HP:0006101HP:0006101Finger syndactyly1IFT172 CL E G H26160110ORPHA02726930391607386
HP:0006101HP:0006101Finger syndactyly1IFT27 CL E G H11020110ORPHA045218626615870
HP:0006101HP:0006101Finger syndactyly1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0006101HP:0006101Finger syndactyly1KCNJ8 CL E G H37641517ORPHA08876269600935
HP:0006101HP:0006101Finger syndactyly1KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0006101HP:0006101Finger syndactyly1LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA071096560602576
HP:0006101HP:0006101Finger syndactyly1LZTFL1 CL E G H54585110ORPHA03406741606568
HP:0006101HP:0006101Finger syndactyly1MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0006101HP:0006101Finger syndactyly1MECOM CL E G H212271289ORPHA029493498165215
HP:0006101HP:0006101Finger syndactyly1MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0615429659605195
HP:0006101HP:0006101Finger syndactyly1MKKS CL E G H81952473ORPHA0601947108604896
HP:0006101HP:0006101Finger syndactyly1MKKS CL E G H8195110ORPHA0601947108604896
HP:0006101HP:0006101Finger syndactyly1MKS1 CL E G H54903110ORPHA0523347121609883
HP:0006101HP:0006101Finger syndactyly1NEK9 CL E G H9175464754ORPHA034518591609798
HP:0006101HP:0006101Finger syndactyly1NOG CL E G H92413250ORPHA064477866602991
HP:0006101HP:0006101Finger syndactyly1NPHP1 CL E G H4867110ORPHA0794037905607100
HP:0006101HP:0006101Finger syndactyly1NSD1 CL E G H643243447ORPHA052589614234606681
HP:0006101HP:0006101Finger syndactyly1NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA0513018008612895
HP:0006101HP:0006101Finger syndactyly1PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0006101HP:0006101Finger syndactyly1PIEZO2 CL E G H63895376ORPHA03232926270613629
HP:0006101HP:0006101Finger syndactyly1PLXND1 CL E G H23129570ORPHA081049107604282
HP:0006101HP:0006101Finger syndactyly1RAD51 CL E G H588884ORPHA016369817179617
HP:0006101HP:0006101Finger syndactyly1RAD51C CL E G H588984ORPHA013111309820602774
HP:0006101HP:0006101Finger syndactyly1RBM8A CL E G H99393320ORPHA0142059905605313
HP:0006101HP:0006101Finger syndactyly1RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM0142059905605313
HP:0006101HP:0006101Finger syndactyly1REV3L CL E G H5980570ORPHA091249968602776
HP:0006101HP:0006101Finger syndactyly1RFWD3 CL E G H5515984ORPHA024925539614151
HP:0006101HP:0006101Finger syndactyly1RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA033921390609891
HP:0006101HP:0006101Finger syndactyly1ROR2 CL E G H492093383ORPHA04025810257602337
HP:0006101HP:0006101Finger syndactyly1ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA04025810257602337
HP:0006101HP:0006101Finger syndactyly1SALL4 CL E G H57167959ORPHA05714815924607343
HP:0006101HP:0006101Finger syndactyly1SDCCAG8 CL E G H10806110ORPHA01824910671613524
HP:0006101HP:0006101Finger syndactyly1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA0817410736609297
HP:0006101HP:0006101Finger syndactyly1SF3B4 CL E G H102621788ORPHA0385810771605593
HP:0006101HP:0006101Finger syndactyly1SLX4 CL E G H8446484ORPHA07281823845613278
HP:0006101HP:0006101Finger syndactyly1SUZ12 CL E G H235123447ORPHA037217101606245
HP:0006101HP:0006101Finger syndactyly1TBX5 CL E G H6910392Weinstein Kliman Scully syndromeORPHA013231511604601620
HP:0006101HP:0006101Finger syndactyly1TP63 CL E G H86261071ORPHA012828215979603273
HP:0006101HP:0006101Finger syndactyly1TP63 CL E G H86261896Dominant cleft palateORPHA012828215979603273
HP:0006101HP:0006101Finger syndactyly1TRIM32 CL E G H22954110ORPHA01632716380602290
HP:0006101HP:0006101Finger syndactyly1TTC8 CL E G H123016110ORPHA01612820087608132
HP:0006101HP:0006101Finger syndactyly1UBE2T CL E G H2908984ORPHA071825009610538
HP:0006101HP:0006101Finger syndactyly1UBE3A CL E G H7337238446ORPHA020275912496601623
HP:0006101HP:0006101Finger syndactyly1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657
HP:0006101HP:0006101Finger syndactyly1WDPCP CL E G H51057110ORPHA0817628027613580
HP:0006101HP:0006101Finger syndactyly1WNT5A CL E G H74743107ORPHA0115812784164975
HP:0006101HP:0006101Finger syndactyly1WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM0115012786601570
HP:0006101HP:0006101Finger syndactyly1XRCC2 CL E G H751684ORPHA02335812829600375
HP:0006101HP:0006101Finger syndactyly2ABCC9 CL E G H100601517ORPHA04965860601439
HP:0006101HP:0006101Finger syndactyly2ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA0438219605011
HP:0006101HP:0006101Finger syndactyly2ARL6 CL E G H84100110ORPHA0217913210608845
HP:0006101HP:0006101Finger syndactyly2ARL6IP6 CL E G H1511881556ORPHA031924048616495
HP:0006101HP:0006101Finger syndactyly2BBIP1 CL E G H92482110ORPHA014328093613605
HP:0006101HP:0006101Finger syndactyly2BBS1 CL E G H582110ORPHA0105309966209901
HP:0006101HP:0006101Finger syndactyly2BBS10 CL E G H79738110ORPHA010931726291610148
HP:0006101HP:0006101Finger syndactyly2BBS12 CL E G H166379110ORPHA06123726648610683
HP:0006101HP:0006101Finger syndactyly2BBS2 CL E G H583110ORPHA096277967606151
HP:0006101HP:0006101Finger syndactyly2BBS4 CL E G H585110ORPHA054217969600374
HP:0006101HP:0006101Finger syndactyly2BBS5 CL E G H129880110ORPHA03186970603650
HP:0006101HP:0006101Finger syndactyly2BBS7 CL E G H55212110ORPHA04417518758607590
HP:0006101HP:0006101Finger syndactyly2BBS9 CL E G H27241110ORPHA05329230000607968
HP:0006101HP:0006101Finger syndactyly2BHLHA9 CL E G H7278573329Lymphoblastic lymphomaORPHA04411835126615416
HP:0006101HP:0006101Finger syndactyly2BLM CL E G H641125ORPHA013115161058604610
HP:0006101HP:0006101Finger syndactyly2BMP4 CL E G H652139471ORPHA048891071112262
HP:0006101HP:0006101Finger syndactyly2BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0006101HP:0006101Finger syndactyly2BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0006101HP:0006101Finger syndactyly2BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0006101HP:0006101Finger syndactyly2BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0006101HP:0006101Finger syndactyly2C8orf37 CL E G H157657110ORPHA01711927232614477
HP:0006101HP:0006101Finger syndactyly2CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA01330529426612753
HP:0006101HP:0006101Finger syndactyly2CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0006101HP:0006101Finger syndactyly2CEP290 CL E G H80184110ORPHA031088429021610142
HP:0006101HP:0006101Finger syndactyly2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA074226877616174
HP:0006101HP:0006101Finger syndactyly2CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA0371612516604275
HP:0006101HP:0006101Finger syndactyly2DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0006101HP:0006101Finger syndactyly2DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0261262909602768
HP:0006101HP:0006101Finger syndactyly2DVL1 CL E G H18553107ORPHA0192443084601365
HP:0006101HP:0006101Finger syndactyly2DVL3 CL E G H18573107ORPHA015773087601368
HP:0006101HP:0006101Finger syndactyly2EED CL E G H87263447ORPHA09493188605984
HP:0006101HP:0006101Finger syndactyly2ERCC4 CL E G H207284ORPHA0723483436133520
HP:0006101HP:0006101Finger syndactyly2ESCO2 CL E G H1575703103ORPHA03121527230609353
HP:0006101HP:0006101Finger syndactyly2EZH2 CL E G H21463447ORPHA0422353527601573
HP:0006101HP:0006101Finger syndactyly2FANCA CL E G H217584ORPHA068917063582607139
HP:0006101HP:0006101Finger syndactyly2FANCB CL E G H218784ORPHA0213523583300515
HP:0006101HP:0006101Finger syndactyly2FANCC CL E G H217684ORPHA0658823584613899
HP:0006101HP:0006101Finger syndactyly2FANCD2 CL E G H217784ORPHA0644293585613984
HP:0006101HP:0006101Finger syndactyly2FANCE CL E G H217884ORPHA0172013586613976
HP:0006101HP:0006101Finger syndactyly2FANCF CL E G H218884ORPHA0162023587613897
HP:0006101HP:0006101Finger syndactyly2FANCG CL E G H218984ORPHA0923253588602956
HP:0006101HP:0006101Finger syndactyly2FANCI CL E G H5521584ORPHA04552125568611360
HP:0006101HP:0006101Finger syndactyly2FANCL CL E G H5512084ORPHA02417620748608111
HP:0006101HP:0006101Finger syndactyly2FANCM CL E G H5769784ORPHA05369723168609644
HP:0006101HP:0006101Finger syndactyly2FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA03731723109612411
HP:0006101HP:0006101Finger syndactyly2FLNB CL E G H2317503ORPHA01225203755603381
HP:0006101HP:0006101Finger syndactyly2FZD2 CL E G H25353107ORPHA07304040600667
HP:0006101HP:0006101Finger syndactyly2GDF5 CL E G H82003250ORPHA059984220601146
HP:0006101HP:0006101Finger syndactyly2GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA0341574288604418
HP:0006101HP:0006101Finger syndactyly2HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA064515977608059
HP:0006101HP:0006101Finger syndactyly2HOXA11 CL E G H320771289ORPHA02405101142958
HP:0006101HP:0006101Finger syndactyly2HOXD13 CL E G H3239887Biliary atresia intrahepatic non syndromic formORPHA042715136142989
HP:0006101HP:0006101Finger syndactyly2IFT172 CL E G H26160110ORPHA02726930391607386
HP:0006101HP:0006101Finger syndactyly2IFT27 CL E G H11020110ORPHA045218626615870
HP:0006101HP:0006101Finger syndactyly2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0006101HP:0006101Finger syndactyly2KCNJ8 CL E G H37641517ORPHA08876269600935
HP:0006101HP:0006101Finger syndactyly2KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0006101HP:0006101Finger syndactyly2LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA071096560602576
HP:0006101HP:0006101Finger syndactyly2LZTFL1 CL E G H54585110ORPHA03406741606568
HP:0006101HP:0006101Finger syndactyly2MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0006101HP:0006101Finger syndactyly2MECOM CL E G H212271289ORPHA029493498165215
HP:0006101HP:0006101Finger syndactyly2MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0615429659605195
HP:0006101HP:0006101Finger syndactyly2MKKS CL E G H81952473ORPHA0601947108604896
HP:0006101HP:0006101Finger syndactyly2MKKS CL E G H8195110ORPHA0601947108604896
HP:0006101HP:0006101Finger syndactyly2MKS1 CL E G H54903110ORPHA0523347121609883
HP:0006101HP:0006101Finger syndactyly2NEK9 CL E G H9175464754ORPHA034518591609798
HP:0006101HP:0006101Finger syndactyly2NOG CL E G H92413250ORPHA064477866602991
HP:0006101HP:0006101Finger syndactyly2NPHP1 CL E G H4867110ORPHA0794037905607100
HP:0006101HP:0006101Finger syndactyly2NSD1 CL E G H643243447ORPHA052589614234606681
HP:0006101HP:0006101Finger syndactyly2NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA0513018008612895
HP:0006101HP:0006101Finger syndactyly2PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0006101HP:0006101Finger syndactyly2PIEZO2 CL E G H63895376ORPHA03232926270613629
HP:0006101HP:0006101Finger syndactyly2PLXND1 CL E G H23129570ORPHA081049107604282
HP:0006101HP:0006101Finger syndactyly2RAD51 CL E G H588884ORPHA016369817179617
HP:0006101HP:0006101Finger syndactyly2RAD51C CL E G H588984ORPHA013111309820602774
HP:0006101HP:0006101Finger syndactyly2RBM8A CL E G H99393320ORPHA0142059905605313
HP:0006101HP:0006101Finger syndactyly2RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM0142059905605313
HP:0006101HP:0006101Finger syndactyly2REV3L CL E G H5980570ORPHA091249968602776
HP:0006101HP:0006101Finger syndactyly2RFWD3 CL E G H5515984ORPHA024925539614151
HP:0006101HP:0006101Finger syndactyly2RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA033921390609891
HP:0006101HP:0006101Finger syndactyly2ROR2 CL E G H492093383ORPHA04025810257602337
HP:0006101HP:0006101Finger syndactyly2ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA04025810257602337
HP:0006101HP:0006101Finger syndactyly2SALL4 CL E G H57167959ORPHA05714815924607343
HP:0006101HP:0006101Finger syndactyly2SDCCAG8 CL E G H10806110ORPHA01824910671613524
HP:0006101HP:0006101Finger syndactyly2SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA0817410736609297
HP:0006101HP:0006101Finger syndactyly2SF3B4 CL E G H102621788ORPHA0385810771605593
HP:0006101HP:0006101Finger syndactyly2SLX4 CL E G H8446484ORPHA07281823845613278
HP:0006101HP:0006101Finger syndactyly2SUZ12 CL E G H235123447ORPHA037217101606245
HP:0006101HP:0006101Finger syndactyly2TBX5 CL E G H6910392Weinstein Kliman Scully syndromeORPHA013231511604601620
HP:0006101HP:0006101Finger syndactyly2TP63 CL E G H86261071ORPHA012828215979603273
HP:0006101HP:0006101Finger syndactyly2TP63 CL E G H86261896Dominant cleft palateORPHA012828215979603273
HP:0006101HP:0006101Finger syndactyly2TRIM32 CL E G H22954110ORPHA01632716380602290
HP:0006101HP:0006101Finger syndactyly2TTC8 CL E G H123016110ORPHA01612820087608132
HP:0006101HP:0006101Finger syndactyly2UBE2T CL E G H2908984ORPHA071825009610538
HP:0006101HP:0006101Finger syndactyly2UBE3A CL E G H7337238446ORPHA020275912496601623
HP:0006101HP:0006101Finger syndactyly2WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657
HP:0006101HP:0006101Finger syndactyly2WDPCP CL E G H51057110ORPHA0817628027613580
HP:0006101HP:0006101Finger syndactyly2WNT5A CL E G H74743107ORPHA0115812784164975
HP:0006101HP:0006101Finger syndactyly2WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM0115012786601570
HP:0006101HP:0006101Finger syndactyly2XRCC2 CL E G H751684ORPHA02335812829600375


Genes (172) :ABCC9 ADAMTS3 AKT1 APC ARHGAP31 ARL6 ARL6IP6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BHLHA9 BLM BMP4 BRCA1 BRCA2 BRIP1 BTRC C8ORF37 CCBE1 CCDC22 CDH1 CDH3 CEP290 CHRNG CKAP2L CTNND1 CTNND2 DCHS1 DHCR7 DHODH DLL3 DLL4 DLX5 DLX6 DOCK6 DVL1 DVL3 EED EFNB1 EOGT EPS15L1 ERCC4 ERF ESCO2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FERMT1 FGD1 FGF10 FGFR1 FGFR2 FGFR3 FLI1 FLNB FRAS1 FREM2 FZD2 GDF5 GJA1 GJB6 GLI3 GPC3 GPC4 GRIP1 HDAC4 HES7 HOXA11 HOXD13 IFT122 IFT172 IFT27 IFT43 IFT52 IKBKG IRF6 KCNJ8 KCTD1 KIF1BP KIF7 LEMD3 LFNG LMBR1 LRP4 LZTFL1 MAD2L2 MECOM MEGF8 MESP2 MKKS MKS1 NAA10 NECTIN1 NECTIN4 NEK1 NEK9 NOG NOTCH1 NPHP1 NSD1 NXN OFD1 ORC1 PALB2 PAX3 PHGDH PIEZO2 PIK3CA PITX1 PLXND1 PNPLA6 PORCN PTDSS1 PTEN RAB23 RAD51 RAD51C RB1 RBM8A RBPJ REV3L RFWD3 RIPK4 RIPPLY2 ROR2 RPL10 SALL1 SALL4 SDCCAG8 SEM1 SEMA5A SF3B4 SHH SLX4 SMO SMOC1 SOST SPECC1L SUZ12 TBX5 TCTN3 TP63 TRIM32 TTC8 TWIST1 UBE2T UBE3A VPS13B WASHC5 WDPCP WDR19 WDR35 WNT10B WNT5A WNT7A XRCC2

Diseases (136) :1517 2136 744 3258 974 110 1556 568 157801 3329 125 139471 607932 84 2440 7 1997 1897 2990 3255 281 818 246 2311 3107 3447 1520 2343 3103 2908 915 93258 101600 93260 794 87 93259 2308 503 1263 2052 3250 93404 2710 189 380 373 1001 71289 887 610713 186000 1515 464 1300 66629 166024 200990 3332 2378 65759 2473 3253 2751 64754 140908 1507 2750 256520 376 60040 570 2377 2092 2658 1587 3320 274000 1234 93383 435938 959 1788 1553 1106 1519 392 2753 978 1071 1896 238446 193 225300 228930 609432 235510 601390 615546 149730 101200 219000 164200 257850 186100 175700 174700 312870 93406 186300 119500 1306 93405 186200 3152 614305 614976 225060 613573 611377 186500 224690 896 148820 114300 186550 113000 107480 601707 269500 1338 217085 614378 672 181270 69085
 

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