Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Parent Node:
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Abnormal hand morphology (HP:0005922)help
Parent Node:
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Aplasia/Hypoplasia of fingers (HP:0006265)help
Parent Node:
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Short digit (HP:0011927)help
..Starting node
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Short finger (HP:0009381)help
Term ID: 9381
Name: Short finger
Synonym: Hypoplastic digits; Hypoplastic fingers; Hypoplastic/small fingers; Short finger; Stubby finger; Stubby fingers
Definition: Abnormally short finger associated with developmental hypoplasia.
Comments:
Reference: HP:0009381
Genes and Diseases:
 
       Child Nodes:
........expandShort middle phalanx of finger (HP:0005819) help
................... HP:0004220 Short middle phalanx of the 5th finger
................... HP:0006110 Shortening of all middle phalanges of the fingers
................... HP:0009295 Short middle phalanx of the 4th finger
................... HP:0009439 Short middle phalanx of the 3rd finger
................... HP:0009577 Short middle phalanx of the 2nd finger
................... HP:0009638 Short proximal phalanx of thumb
........expandShort 5th finger (HP:0009237) help
................... HP:0004220 Short middle phalanx of the 5th finger
................... HP:0004227 Short distal phalanx of the 5th finger
................... HP:0009226 Short proximal phalanx of the 5th finger
........expandShort 4th finger (HP:0009280) help
................... HP:0009290 Short distal phalanx of the 4th finger
................... HP:0009295 Short middle phalanx of the 4th finger
................... HP:0009301 Short proximal phalanx of the 4th finger
........expandShort 3rd finger (HP:0009461) help
................... HP:0004180 Short distal phalanx of the 3rd finger
................... HP:0009439 Short middle phalanx of the 3rd finger
................... HP:0009459 Short proximal phalanx of the 3rd finger
........expandShort 2nd finger (HP:0009536) help
................... HP:0009566 Short distal phalanx of the 2nd finger
................... HP:0009577 Short middle phalanx of the 2nd finger
................... HP:0009597 Short proximal phalanx of the 2nd finger
........expandShort thumb (HP:0009778) help
................... HP:0005726 Thumbs hypoplastic with bulbous tips
................... HP:0009660 Short phalanx of the thumb
........expandShort distal phalanx of finger (HP:0009882) help
................... HP:0004180 Short distal phalanx of the 3rd finger
................... HP:0004227 Short distal phalanx of the 5th finger
................... HP:0006118 Shortening of all distal phalanges of the fingers
................... HP:0009290 Short distal phalanx of the 4th finger
................... HP:0009566 Short distal phalanx of the 2nd finger
................... HP:0009650 Short distal phalanx of the thumb
........expandShort proximal phalanx of finger (HP:0010241) help
................... HP:0006144 Shortening of all proximal phalanges of the fingers
................... HP:0009226 Short proximal phalanx of the 5th finger
................... HP:0009301 Short proximal phalanx of the 4th finger
................... HP:0009459 Short proximal phalanx of the 3rd finger
................... HP:0009597 Short proximal phalanx of the 2nd finger

 Sister Nodes: 
..expandBrachydactyly (HP:0001156) help
..expandShort toe (HP:0001831) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009381HP:0009381Short finger0ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM113629414637607800
HP:0009381HP:0009381Short finger0BMPR1B CL E G H658609441Acromesomelic dysplasia, Demirhan type609441C4225404OMIM1241951077603248
HP:0009381HP:0009381Short finger0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM1362361955100690
HP:0009381HP:0009381Short finger0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM1262531965100720
HP:0009381HP:0009381Short finger0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM1351601967100730
HP:0009381HP:0009381Short finger0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0009381HP:0009381Short finger0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0009381HP:0009381Short finger0GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0009381HP:0009381Short finger0HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0009381HP:0009381Short finger0LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM1343756696604270
HP:0009381HP:0009381Short finger0NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0009381HP:0009381Short finger0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0009381HP:0009381Short finger0PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM1201438754123695
HP:0009381HP:0009381Short finger0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0009381HP:0009381Short finger0RMRP CL E G H6023607095Anauxetic dysplasia 1607095CN029084OMIM112341110031157660
HP:0009381HP:0009381Short finger0SLC26A2 CL E G H1836628ORPHA15531810994606718
HP:0009381HP:0009381Short finger0SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM15531810994606718
HP:0009381HP:0009381Short finger0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0009381HP:0009381Short finger0TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0009381HP:0009381Short finger0TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM114222112340604386
HP:0009381HP:0009381Short finger0TRPV4 CL E G H59341156530Metatrophic dysplasia156530C0265281OMIM18253918083605427
HP:0009381HP:0009381Short finger1ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM113629414637607800
HP:0009381HP:0009381Short finger1BMPR1B CL E G H658609441Acromesomelic dysplasia, Demirhan type609441C4225404OMIM1241951077603248
HP:0009381HP:0009381Short finger1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM1362361955100690
HP:0009381HP:0009381Short finger1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM1262531965100720
HP:0009381HP:0009381Short finger1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM1351601967100730
HP:0009381HP:0009381Short finger1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0009381HP:0009381Short finger1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0009381HP:0009381Short finger1GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0009381HP:0009381Short finger1HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0009381HP:0009381Short finger1LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM1343756696604270
HP:0009381HP:0009381Short finger1NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0009381HP:0009381Short finger1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0009381HP:0009381Short finger1PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM1201438754123695
HP:0009381HP:0009381Short finger1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0009381HP:0009381Short finger1RMRP CL E G H6023607095Anauxetic dysplasia 1607095CN029084OMIM112341110031157660
HP:0009381HP:0009381Short finger1SLC26A2 CL E G H1836628ORPHA15531810994606718
HP:0009381HP:0009381Short finger1SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM15531810994606718
HP:0009381HP:0009381Short finger1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0009381HP:0009381Short finger1TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0009381HP:0009381Short finger1TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM114222112340604386
HP:0009381HP:0009381Short finger1TRPV4 CL E G H59341156530Metatrophic dysplasia156530C0265281OMIM18253918083605427
HP:0009381HP:0009381Short finger2ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM113629414637607800
HP:0009381HP:0009381Short finger2BMPR1B CL E G H658609441Acromesomelic dysplasia, Demirhan type609441C4225404OMIM1241951077603248
HP:0009381HP:0009381Short finger2CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM1362361955100690
HP:0009381HP:0009381Short finger2CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM1262531965100720
HP:0009381HP:0009381Short finger2CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM1351601967100730
HP:0009381HP:0009381Short finger2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0009381HP:0009381Short finger2GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0009381HP:0009381Short finger2GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0009381HP:0009381Short finger2HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0009381HP:0009381Short finger2LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM1343756696604270
HP:0009381HP:0009381Short finger2NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0009381HP:0009381Short finger2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0009381HP:0009381Short finger2PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM1201438754123695
HP:0009381HP:0009381Short finger2PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0009381HP:0009381Short finger2RMRP CL E G H6023607095Anauxetic dysplasia 1607095CN029084OMIM112341110031157660
HP:0009381HP:0009381Short finger2SLC26A2 CL E G H1836628ORPHA15531810994606718
HP:0009381HP:0009381Short finger2SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM15531810994606718
HP:0009381HP:0009381Short finger2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0009381HP:0009381Short finger2TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0009381HP:0009381Short finger2TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM114222112340604386
HP:0009381HP:0009381Short finger2TRPV4 CL E G H59341156530Metatrophic dysplasia156530C0265281OMIM18253918083605427
HP:0009381HP:0009381Short finger3ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM113629414637607800
HP:0009381HP:0009381Short finger3BMPR1B CL E G H658609441Acromesomelic dysplasia, Demirhan type609441C4225404OMIM1241951077603248
HP:0009381HP:0009381Short finger3CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM1362361955100690
HP:0009381HP:0009381Short finger3CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM1262531965100720
HP:0009381HP:0009381Short finger3CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM1351601967100730
HP:0009381HP:0009381Short finger3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0009381HP:0009381Short finger3GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0009381HP:0009381Short finger3GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0009381HP:0009381Short finger3HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0009381HP:0009381Short finger3LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM1343756696604270
HP:0009381HP:0009381Short finger3NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0009381HP:0009381Short finger3OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0009381HP:0009381Short finger3PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM1201438754123695
HP:0009381HP:0009381Short finger3PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0009381HP:0009381Short finger3RMRP CL E G H6023607095Anauxetic dysplasia 1607095CN029084OMIM112341110031157660
HP:0009381HP:0009381Short finger3SLC26A2 CL E G H1836628ORPHA15531810994606718
HP:0009381HP:0009381Short finger3SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM15531810994606718
HP:0009381HP:0009381Short finger3SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0009381HP:0009381Short finger3TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0009381HP:0009381Short finger3TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM114222112340604386
HP:0009381HP:0009381Short finger3TRPV4 CL E G H59341156530Metatrophic dysplasia156530C0265281OMIM18253918083605427
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009381HP:0009381Short finger0ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0009381HP:0009381Short finger0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM064156430603741
HP:0009381HP:0009381Short finger0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM02213813743607206
HP:0009381HP:0009381Short finger0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM02516129529608628
HP:0009381HP:0009381Short finger1ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0009381HP:0009381Short finger1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM064156430603741
HP:0009381HP:0009381Short finger1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM02213813743607206
HP:0009381HP:0009381Short finger1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM02516129529608628
HP:0009381HP:0009381Short finger2ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0009381HP:0009381Short finger2ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM064156430603741
HP:0009381HP:0009381Short finger2ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM02213813743607206
HP:0009381HP:0009381Short finger2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM02516129529608628
HP:0009381HP:0009381Short finger3ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0009381HP:0009381Short finger3ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM064156430603741
HP:0009381HP:0009381Short finger3ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM02213813743607206
HP:0009381HP:0009381Short finger3TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM02516129529608628


Genes (191) :ABCA12 ABCC9 ACAN ACVR1 ADAMTS10 ALOX12B ALOXE3 APC ARHGAP31 ARID1A ARID1B ARID2 ARSE ATP6V1B2 BCOR BCR BHLHA9 BMP2 BMP4 BMPR1B BRCA2 BRIP1 CANT1 CCDC22 CHD7 CHRNA1 CHRND CHRNG CHST11 CHST3 CLCN7 COG4 COL10A1 COL2A1 COMP CPLX1 CRIPT CRKL CTBP1 CTSK CUL7 CWC27 DHCR7 DHODH DLL4 DOCK6 DPF2 DVL1 DVL3 DYNC2LI1 EDA EDA2R EIF2AK3 EIF4A3 EOGT ESCO2 EVC EVC2 FANCA FANCC FANCD2 FANCE FANCI FBN1 FGD1 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FLNB 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 LMNA LMNB2 LRP4 LTBP2 MAP3K7 MAPK1 MASP1 MCTP2 MEIS2 MGP MIR17HG MTOR NELFA NFIX NIPBL NOG NOTCH1 NOTCH2 NSD2 NXN OBSL1 OFD1 PALB2 PCNT PCYT1A PHF6 PIGN PIGO PIGS PIGV PIGY POC1A PORCN PSMD12 PTCH1 PTCH2 PTHLH PUF60 RAD21 RAD51C RAP1A RAP1B RBBP8 RBPJ RECQL4 RMRP ROR2 RPL11 RPL5 RPS19 RPS6KA3 RUNX2 SALL4 SEMA3E SETBP1 SETD5 SIN3A SLC25A24 SLC26A2 SLX4 SMAD4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SOX11 STAMBP SUFU TBC1D24 TBL1XR1 TBX3 TCTN3 TFAP2A TFAP2B TRPS1 TRPV4 UBE2T VAC14 WDR19 WDR35 WHCR WNT5A ZBTB20 ZDHHC15 ZMPSTE24

Diseases (202) :242500 612813 242100 609441 253290 216340 103580 250220 182230 614305 186570 300209 608940 305600 607095 628 222600 139210 602342 258860 190351 156530 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 616331 289 181 268305 269000 227650 227645 227646 600901 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 607778 112500 611174 118450 611816 135500 616728 300534 2322 147920 300867 605130 280 90153 616540 257920 1596 600987 85202 245150 614326 616638 602535 140908 611377 184460 955 1507 612921 610832 210720 2059 614080 618143 239300 614813 617516 615583 613390 614814 221016 268400 93383 113000 612562 612561 105650 192 607323 2307 798 269150 94065 613406 2095 2963 612289 256050 613951 616938 610759 615866 614261 79500 220500 3138 113620 77258 85169 606835 616435 614378 614091 259050 300577 90154 135900 93396 180700 226980 101600 1826 190685 63442 164200 180860 93409 186000 617926 301900 614749 616809 109400 508488 251255 268310 119600 156510 959 46627 135100 251450 609053 93328 164745 199 147750
 

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