Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Grandparent Node:
expand
Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)help
Parent Node:
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Abnormality of finger (HP:0001167)help
Parent Node:
expand
Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
..Starting node
..expand
Aplasia/Hypoplasia of fingers (HP:0006265)help
Term ID: 6265
Name: Aplasia/Hypoplasia of fingers
Synonym: Absent/small fingers; Absent/underdeveloped fingers
Definition: Small/hypoplastic or absent/aplastic fingers.
Comments:
Reference: HP:0006265
Genes and Diseases:
 
       Child Nodes:
........expandProportionate shortening of all digits (HP:0006165) help
........expandAplasia/Hypoplasia of the 5th finger (HP:0006262) help
................... HP:0006209 Partial-complete absence of 5th phalanges
................... HP:0009237 Short 5th finger
................... HP:0009238 Aplasia of the 5th finger
........expandAplasia/Hypoplasia of the 2nd finger (HP:0006264) help
................... HP:0009535 Aplasia of the 2nd finger
................... HP:0009536 Short 2nd finger
........expandAplasia/Hypoplasia of the 4th finger (HP:0009272) help
................... HP:0009280 Short 4th finger
................... HP:0009281 Aplasia of the 4th finger
........expandAplasia/Hypoplasia of the 3rd finger (HP:0009318) help
................... HP:0009460 Aplasia of the 3rd finger
................... HP:0009461 Short 3rd finger
........expandAplasia of the fingers (HP:0009380) help
................... HP:0001180 Hand oligodactyly
................... HP:0009238 Aplasia of the 5th finger
................... HP:0009281 Aplasia of the 4th finger
................... HP:0009460 Aplasia of the 3rd finger
................... HP:0009535 Aplasia of the 2nd finger
................... HP:0009776 Adactyly
................... HP:0009777 Absent thumb
................... HP:0009881 Aplasia of the distal phalanges of the hand
................... HP:0010239 Aplasia of the middle phalanx of the hand
................... HP:0010242 Aplasia of the proximal phalanges of the hand
........expandShort finger (HP:0009381) help
................... HP:0005819 Short middle phalanx of finger
................... HP:0009237 Short 5th finger
................... HP:0009280 Short 4th finger
................... HP:0009461 Short 3rd finger
................... HP:0009536 Short 2nd finger
................... HP:0009778 Short thumb
................... HP:0009882 Short distal phalanx of finger
................... HP:0010241 Short proximal phalanx of finger
........expandAplasia/Hypoplasia of the thumb (HP:0009601) help
................... HP:0009659 Partial absence of thumb
................... HP:0009777 Absent thumb
................... HP:0009778 Short thumb
........expandSmall finger (HP:0030033) help

 Sister Nodes: 
..expandAbsent hand (HP:0004050) help
..expandAplasia/Hypoplasia involving the carpal bones (HP:0006502) help
..expandAplasia/Hypoplasia involving the metacarpal bones (HP:0005914) help
..expandShort palm (HP:0004279) help
..expandSmall hand (HP:0200055) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCA CL E G H217584ORPHA068917063582607139
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCB CL E G H218784ORPHA0213523583300515
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCC CL E G H217684ORPHA0658823584613899
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCE CL E G H217884ORPHA0172013586613976
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCF CL E G H218884ORPHA0162023587613897
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCG CL E G H218984ORPHA0923253588602956
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCI CL E G H5521584ORPHA04552125568611360
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCL CL E G H5512084ORPHA02417620748608111
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0FANCM CL E G H5769784ORPHA05369723168609644
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0RAD51 CL E G H588884ORPHA016369817179617
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0RAD51C CL E G H588984ORPHA013111309820602774
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0RFWD3 CL E G H5515984ORPHA024925539614151
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0SLX4 CL E G H8446484ORPHA07281823845613278
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0UBE2T CL E G H2908984ORPHA071825009610538
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers0XRCC2 CL E G H751684ORPHA02335812829600375
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1ERCC4 CL E G H207284ORPHA0723483436133520
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCA CL E G H217584ORPHA068917063582607139
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCB CL E G H218784ORPHA0213523583300515
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCC CL E G H217684ORPHA0658823584613899
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCD2 CL E G H217784ORPHA0644293585613984
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCE CL E G H217884ORPHA0172013586613976
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCF CL E G H218884ORPHA0162023587613897
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCG CL E G H218984ORPHA0923253588602956
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCI CL E G H5521584ORPHA04552125568611360
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCL CL E G H5512084ORPHA02417620748608111
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1FANCM CL E G H5769784ORPHA05369723168609644
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1RAD51 CL E G H588884ORPHA016369817179617
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1RAD51C CL E G H588984ORPHA013111309820602774
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1RFWD3 CL E G H5515984ORPHA024925539614151
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1SLX4 CL E G H8446484ORPHA07281823845613278
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1UBE2T CL E G H2908984ORPHA071825009610538
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers1XRCC2 CL E G H751684ORPHA02335812829600375
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2ERCC4 CL E G H207284ORPHA0723483436133520
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCA CL E G H217584ORPHA068917063582607139
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCB CL E G H218784ORPHA0213523583300515
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCC CL E G H217684ORPHA0658823584613899
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCD2 CL E G H217784ORPHA0644293585613984
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCE CL E G H217884ORPHA0172013586613976
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCF CL E G H218884ORPHA0162023587613897
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCG CL E G H218984ORPHA0923253588602956
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCI CL E G H5521584ORPHA04552125568611360
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCL CL E G H5512084ORPHA02417620748608111
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2FANCM CL E G H5769784ORPHA05369723168609644
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2RAD51 CL E G H588884ORPHA016369817179617
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2RAD51C CL E G H588984ORPHA013111309820602774
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2RFWD3 CL E G H5515984ORPHA024925539614151
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2SLX4 CL E G H8446484ORPHA07281823845613278
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2UBE2T CL E G H2908984ORPHA071825009610538
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers2XRCC2 CL E G H751684ORPHA02335812829600375
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3ERCC4 CL E G H207284ORPHA0723483436133520
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCA CL E G H217584ORPHA068917063582607139
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCB CL E G H218784ORPHA0213523583300515
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCC CL E G H217684ORPHA0658823584613899
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCD2 CL E G H217784ORPHA0644293585613984
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCE CL E G H217884ORPHA0172013586613976
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCF CL E G H218884ORPHA0162023587613897
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCG CL E G H218984ORPHA0923253588602956
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCI CL E G H5521584ORPHA04552125568611360
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCL CL E G H5512084ORPHA02417620748608111
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3FANCM CL E G H5769784ORPHA05369723168609644
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3RAD51 CL E G H588884ORPHA016369817179617
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3RAD51C CL E G H588984ORPHA013111309820602774
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3RFWD3 CL E G H5515984ORPHA024925539614151
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3SLX4 CL E G H8446484ORPHA07281823845613278
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3UBE2T CL E G H2908984ORPHA071825009610538
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers3XRCC2 CL E G H751684ORPHA02335812829600375
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4ERCC4 CL E G H207284ORPHA0723483436133520
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCA CL E G H217584ORPHA068917063582607139
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCB CL E G H218784ORPHA0213523583300515
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCC CL E G H217684ORPHA0658823584613899
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCD2 CL E G H217784ORPHA0644293585613984
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCE CL E G H217884ORPHA0172013586613976
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCF CL E G H218884ORPHA0162023587613897
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCG CL E G H218984ORPHA0923253588602956
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCI CL E G H5521584ORPHA04552125568611360
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCL CL E G H5512084ORPHA02417620748608111
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4FANCM CL E G H5769784ORPHA05369723168609644
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4RAD51 CL E G H588884ORPHA016369817179617
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4RAD51C CL E G H588984ORPHA013111309820602774
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4RFWD3 CL E G H5515984ORPHA024925539614151
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4SLX4 CL E G H8446484ORPHA07281823845613278
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4UBE2T CL E G H2908984ORPHA071825009610538
HP:0006265HP:0006265Aplasia/Hypoplasia of fingers4XRCC2 CL E G H751684ORPHA02335812829600375


Genes (228) :ABCA12 ABCC9 ACAN ACVR1 ADAMTS10 ALOX12B ALOXE3 APC ARHGAP31 ARID1A ARID1B ARID2 ARSE ATP6V1B2 BCOR BCR BHLHA9 BMP2 BMP4 BMPR1B BRCA1 BRCA2 BRIP1 CANT1 CCDC22 CHD7 CHN1 CHRNA1 CHRND CHRNG CHST11 CHST3 CLCN7 COG4 COL10A1 COL25A1 COL2A1 COMP CPLX1 CRIPT CRKL CTBP1 CTSK CUL7 CWC27 DHCR7 DHODH DLL4 DOCK6 DOLK DPF2 DVL1 DVL3 DYNC2LI1 EDA EDA2R EIF2AK3 EIF4A3 EOGT ERCC4 ESCO2 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGD1 FGF10 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FLNB FRAS1 FZD2 GATA1 GDF5 GGCX GJA1 GLI1 GMNN GNAS GPC3 GPC4 GPX4 H19 HDAC8 HESX1 HOXA13 HOXD13 IFT122 IFT43 IFT52 IFT57 IGF2 IHH INTU IRX5 JAG1 KCNH1 KCNJ8 KDM1A KDM5C KDM6A KMT2A KMT2D LETM1 LIG4 LMBR1 LMNA LMNB2 LRP4 LTBP2 MAD2L2 MAFB MAP3K7 MAPK1 MASP1 MCTP2 MEGF8 MEIS2 MGP MIR17HG MTOR NEK1 NELFA NFIX NIPBL NOG NOTCH1 NOTCH2 NSD2 NSUN2 NXN OBSL1 OFD1 PALB2 PCNT PCYT1A PHF6 PIGN PIGO PIGS PIGV PIGY PLXND1 POC1A PORCN PSMD12 PTCH1 PTCH2 PTHLH PUF60 RAD21 RAD51 RAD51C RAP1A RAP1B RB1 RBBP8 RBPJ RECQL4 REV3L RFWD3 RIPK4 RMRP ROR2 RPL11 RPL26 RPL5 RPS19 RPS6KA3 RSPO2 RUNX2 SALL4 SEMA3E SETBP1 SETD5 SF3B4 SHH SIN3A SLC25A24 SLC26A2 SLX4 SMAD4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMOC1 SON SOX11 STAMBP SUFU TBC1D24 TBL1XR1 TBX3 TBX5 TCTN3 TFAP2A TFAP2B TP63 TRPS1 TRPV4 UBE2T VAC14 WDR19 WDR35 WHCR WNT10B WNT5A WNT7A XRCC2 ZBTB16 ZBTB20 ZDHHC15 ZMPSTE24

Diseases (248) :84 242500 612813 242100 609432 609441 2098 233 253290 3103 93258 87 216340 219000 103580 250220 182230 607778 112500 235 3332 2378 614305 186570 300209 608940 280633 570 305600 1587 1225 218600 607095 245 154400 628 222600 139210 602342 258860 1896 190351 156530 228930 1517 435804 165800 3449 3258 974 1465 302950 79499 2712 261330 157801 112600 607932 93388 93384 616849 605724 609054 300963 214800 618167 143095 53 618150 156500 85166 271700 177170 194190 615789 763 273750 250410 270400 263750 91131 616331 289 181 268305 615272 269000 268300 227650 300514 227645 227646 600901 609053 614083 305400 602849 3472 90650 90652 2484 309350 311300 304120 503 968 201250 615072 113100 277450 186100 616835 373 312870 2438 140000 93406 93387 186300 1515 218330 617102 617927 611174 118450 611816 135500 616728 300534 2322 147920 300867 605130 280 90153 610140 616540 257920 1596 614976 600987 85202 245150 614326 616638 2751 602535 122470 140908 611377 184460 955 1507 612921 610832 210720 2059 614080 618143 239300 614813 617516 615583 613390 614814 221016 266280 268400 617784 1234 263650 93383 113000 612562 614900 612561 105650 192 618022 607323 2307 147750 798 269150 1788 94065 613406 2095 2963 612289 256050 613951 616938 610759 1106 206920 500150 615866 614261 79500 220500 3138 142900 392 113620 77258 85169 606835 616435 614378 614091 225300 2879 276820 612447 259050 300577 90154 135900 93396 180700 226980 149730 101600 1826 190685 63442 164200 180860 93409 186000 617926 301900 614749 616809 109400 508488 251255 268310 119600 156510 959 46627 135100 251450 93328 164745 199
 

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