Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the upper limb (HP:0002817)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the extremities (HP:0045060)help
Parent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)help
..Starting node
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Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
Term ID: 5927
Name: Aplasia/hypoplasia involving bones of the hand
Synonym: Absent/small hand bones; Absent/underdeveloped hand bones; Hypoplasia/absence of hand bones
Definition: Absence (due to failure to form) or underdevelopment of the bones of the hand.
Comments:
Reference: HP:0005927
Genes and Diseases:
 
       Child Nodes:
........expandAbsent hand (HP:0004050) help
........expandShort palm (HP:0004279) help
........expandAplasia/Hypoplasia involving the metacarpal bones (HP:0005914) help
................... HP:0010026 Aplasia/Hypoplasia of the 1st metacarpal
................... HP:0010036 Aplasia/Hypoplasia of the 2nd metacarpal
................... HP:0010039 Aplasia/Hypoplasia of the 3rd metacarpal
................... HP:0010042 Aplasia/Hypoplasia of the 4th metacarpal
................... HP:0010045 Aplasia/Hypoplasia of the 5th metacarpal
................... HP:0010048 Aplasia of metacarpal bones
................... HP:0010049 Short metacarpal
........expandAplasia/Hypoplasia of fingers (HP:0006265) help
................... HP:0006165 Proportionate shortening of all digits
................... HP:0006262 Aplasia/Hypoplasia of the 5th finger
................... HP:0006264 Aplasia/Hypoplasia of the 2nd finger
................... HP:0009272 Aplasia/Hypoplasia of the 4th finger
................... HP:0009318 Aplasia/Hypoplasia of the 3rd finger
................... HP:0009380 Aplasia of the fingers
................... HP:0009381 Short finger
................... HP:0009601 Aplasia/Hypoplasia of the thumb
................... HP:0030033 Small finger
........expandAplasia/Hypoplasia involving the carpal bones (HP:0006502) help
................... HP:0001498 Carpal bone hypoplasia
................... HP:0004231 Carpal bone aplasia
........expandSmall hand (HP:0200055) help

 Sister Nodes: 
..expandAmelia involving the upper limbs (HP:0009812) help
..expandAplasia involving bones of the upper limbs (HP:0009823) help
..expandAplasia/hypoplasia involving forearm bones (HP:0006503) help
..expandAplasia/hypoplasia of the humerus (HP:0006507) help
..expandUpper limb peromelia (HP:0009814) help
..expandUpper limb phocomelia (HP:0009813) help
..expandUpper limb undergrowth (HP:0009824) 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:0005927HP:0005927Aplasia/hypoplasia involving bones of the hand0 CL E G H
HP:0005927HP:0005927Aplasia/hypoplasia involving bones of the hand1 CL E G H
HP:0005927HP:0005927Aplasia/hypoplasia involving bones of the hand2 CL E G H
HP:0005927HP:0005927Aplasia/hypoplasia involving bones of the hand3 CL E G H
HP:0005927HP:0005927Aplasia/hypoplasia involving bones of the hand4 CL E G H
HP:0005927HP:0005927Aplasia/hypoplasia involving bones of the hand5 CL E G H


Genes (358) :ABCA12 ABCC9 ACAN ACVR1 ADAMTS10 ADAMTSL2 ADNP ALDH18A1 ALOX12B ALOXE3 ANTXR2 APC ARHGAP31 ARID1A ARID1B ARID2 ARSE ATP6V1B2 ATP7A B3GALT6 B3GLCT BCOR BCR BGN BHLHA9 BMP2 BMP4 BMPR1B BPTF BRCA1 BRCA2 BRIP1 BTRC CANT1 CCBE1 CCDC22 CD96 CDK10 CDKL5 CENPE CHD7 CHN1 CHRNA1 CHRND CHRNG CHST11 CHST3 CHSY1 CLCN7 COG1 COG4 COL10A1 COL11A1 COL11A2 COL25A1 COL2A1 COL3A1 COL9A2 COL9A3 COMP CPLX1 CRIPT CRKL CRLF1 CTBP1 CTNND2 CTSK CUL4B CUL7 CWC27 DCHS1 DDR2 DHCR7 DHODH DLL4 DLX5 DLX6 DOCK6 DOLK DONSON DPF2 DPM1 DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2LI1 EDA EDA2R EIF2AK3 EIF4A3 EOGT EPS15L1 ERCC4 ESCO2 EVC EVC2 EXT1 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBXO11 FERMT1 FGD1 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FLNB FMR1 FRAS1 FZD2 GABBR2 GATA1 GDF5 GGCX GJA1 GLI1 GLI3 GMNN GNAS GNAS-AS1 GNPTAB GPC3 GPC4 GPX4 H19 HDAC4 HDAC6 HDAC8 HERC2 HESX1 HHAT HOXA13 HOXD13 HPGD HTT IFT122 IFT43 IFT52 IFT57 IFT80 IGF1R IGF2 IHH IKBKG IMPAD1 INPP5K INPPL1 INTU IPW IRX5 JAG1 KAT6B KCNH1 KCNJ2 KCNJ8 KDM1A KDM5C KDM6A KIF1BP KIF22 KMT2A KMT2D KRAS LAS1L LBR LETM1 LIG4 LMBR1 LMNA LMNB2 LONP1 LRP4 LTBP2 LTBP3 MAD2L2 MAFB MAGEL2 MAP3K7 MAPK1 MAPRE2 MASP1 MBD5 MCTP2 MEGF8 MEIS2 MGP MIR17HG MKRN3 MKRN3-AS1 MTOR NANS NDN NEK1 NELFA NFIX NGLY1 NHS NIPBL NOG NOTCH1 NOTCH2 NPAP1 NPR2 NSD2 NSUN2 NXN OBSL1 OFD1 ORC1 P3H1 PALB2 PCNT PCYT1A PDE3A PDE4D PEX7 PHF6 PHYH PIGL PIGN PIGO PIGS PIGV PIGY PIK3R1 PLXND1 POC1A PORCN PPM1D PRKAR1A PRMT7 PSMD12 PTCH1 PTCH2 PTDSS1 PTH1R PTHLH PUF60 PUM1 PWAR1 PWRN1 RAB33B RAB3GAP2 RAD21 RAD51 RAD51C RAI1 RAP1A RAP1B RB1 RBBP8 RBM8A RBPJ RECQL4 REV3L RFWD3 RIPK4 RMRP RNU4ATAC ROR2 RPL11 RPL26 RPL5 RPS19 RPS6KA3 RSPO2 RSPRY1 RUNX2 SALL4 SEM1 SEMA3E SEMA5A SETBP1 SETD5 SF3B4 SHH SHOX SHROOM4 SIL1 SIM1 SIN3A SLC25A24 SLC26A2 SLC39A13 SLC6A17 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMOC1 SNIP1 SNORD115-1 SNORD116-1 SNRPN SON SOX11 SRY STAMBP STX16 SUFU TBC1D24 TBCE TBL1XR1 TBX3 TBX5 TCF4 TCTN3 TFAP2A TFAP2B TP63 TRIP11 TRPS1 TRPV4 TUBB3 TWIST2 UBE2T USP9X VAC14 VPS13B WDR19 WDR34 WDR35 WDR60 WDR81 WHCR WNT10B WNT5A WNT7A WRN XRCC2 XYLT1 YY1AP1 ZBTB16 ZBTB20 ZDHHC15 ZMPSTE24

Diseases (436) :231050 615873 2176 974 198 93359 261540 261330 300106 157801 609441 2098 617755 84 2440 1425 235510 617694 300672 616051 611209 85172 228520 215150 166011 85166 2500 600204 750 93308 272430 281 85293 300354 608799 3107 180700 614563 93271 952 193530 102370 969 614185 618089 915 305400 3237 93258 166250 93260 93259 53271 90652 90650 261483 93328 617903 190685 200700 257850 312870 93317 1001 163966 3459 199 300882 176270 2796 617435 73273 270450 63446 607778 112500 464 559 258480 85201 170390 85279 2322 609460 3339 309585 235 931 200500 79474 615547 3238 616734 228402 156200 1596 615273 224690 85167 3474 280633 3163 570 614813 617450 101800 2658 79106 617931 212720 182290 268400 175 250250 2636 268310 300434 171829 94065 613406 93307 616269 2588 3051 300590 610759 614501 617140 93324 241410 244460 2323 602342 3138 2896 605289 93299 190351 181405 300570 300968 610185 228930 276820 902 79094 300577 242500 612813 601162 242100 271640 609432 93384 211750 233 253290 263463 143095 605282 618150 1856 609162 271700 600969 132400 177170 250410 271665 617604 223800 607326 226980 268305 3103 133700 133701 87 216340 304120 108720 150250 219000 228900 103580 603233 612462 612463 576 252500 252600 250220 182230 1422 93387 113300 617102 611263 614078 603546 3332 2378 1458 600373 614305 617137 610442 627 186570 602875 300209 610915 608940 1276 112410 280651 950 614613 773 305600 617157 50945 613382 615222 1587 274000 1225 218600 607095 250460 210710 616651 93383 303600 192 616723 607323 147750 245 154400 248800 628 56304 222600 226900 612350 139210 601358 258860 1896 184260 77258 190350 156530 184252 200110 216550 615777 1517 435804 165800 135100 3449 3258 1465 302950 79499 2712 93396 617877 112600 607932 93388 616849 605724 609054 251450 300963 214800 618167 53 156500 194190 615789 763 273750 601390 270400 263750 91131 616331 289 181 615272 269000 268300 227650 300514 227645 227646 600901 609053 614083 615546 2908 602849 3472 2484 309350 311300 503 164745 968 63442 201250 615072 113100 277450 186100 672 146510 616835 79443 79444 373 2438 140000 93409 93406 186300 1515 218330 617927 611174 118450 611816 135500 616728 300534 147920 300867 605130 169400 280 90153 610140 616540 257920 614976 600987 85202 245150 614326 616638 2751 602535 122470 140908 611377 185800 184460 955 1507 612921 610832 210720 2059 614080 618143 239300 617516 109400 615583 613390 614814 221016 266280 617784 1234 263650 113000 612562 614900 612561 105650 618022 119600 156510 2307 798 269150 1788 127300 2963 2095 612289 256050 613951 616938 1106 206920 500150 615866 1772 614261 79500 220500 142900 392 113620 85169 606835 616435 614378 614091 225300 2879 617247 612447 259050 90154 135900 149730 101600 1826 164200 180860 186000 617926 301900 614749 616809 508488 251255 959 46627
 

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