Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Abnormality of finger (HP:0001167)help
..Starting node
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Abnormal 5th finger morphology (HP:0004207)help
Term ID: 4207
Name: Abnormal 5th finger morphology
Synonym: Abnormality of the 5th finger; Abnormality of the little finger; Abnormality of the pinkie finger; Abnormality of the pinky finger
Definition: An abnormality affecting one or both 5th fingers.
Comments:
Reference: HP:0004207
Genes and Diseases:
 
       Child Nodes:
........expandPostaxial hand polydactyly (HP:0001162) help
................... HP:0005676 Rudimentary postaxial polydactyly of hands
................... HP:0005696 Postaxial polydactyly type A
................... HP:0006136 Bilateral postaxial polydactyly
........expandAbnormality of the phalanges of the 5th finger (HP:0004213) help
................... HP:0004214 Curved phalanges of the 5th finger
................... HP:0004216 Osteolytic defects of the phalanges of the 5th finger
................... HP:0004218 Symphalangism of the 5th finger
................... HP:0004219 Abnormality of the middle phalanx of the 5th finger
................... HP:0004225 Abnormality of the distal phalanx of the 5th finger
................... HP:0009150 Abnormality of the proximal phalanx of the 5th finger
................... HP:0009374 Broad phalanges of the 5th finger
................... HP:0009375 Bullet-shaped phalanges of the 5th finger
................... HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger
................... HP:0009378 Triangular shaped phalanges of the 5th finger
................... HP:0009985 Duplication of phalanx of 5th finger
................... HP:0100921 Sclerosis of 5th finger phalanx
........expandSubluxation of the proximal interphalangeal joint of the little finger (HP:0004230) 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
........expandAbnormality of the epiphyses of the 5th finger (HP:0009152) help
................... HP:0004224 Abnormality of the epiphysis of the middle phalanx of the 5th finger
................... HP:0009153 Abnormality of the epiphysis of the proximal phalanx of the 5th finger
................... HP:0009198 Abnormality of the epiphysis of the distal phalanx of the 5th finger
................... HP:0009382 Absent epiphyses of the 5th finger
................... HP:0009383 Bracket epiphyses of the 5th finger
................... HP:0009384 Cone-shaped epiphyses of the 5th finger
................... HP:0009385 Enlarged epiphyses of the 5th finger
................... HP:0009386 Fragmentation of the epiphyses of the 5th finger
................... HP:0009387 Irregular epiphyses of the 5th finger
................... HP:0009388 Ivory epiphyses of the 5th finger
................... HP:0009389 Pseudoepiphyses of the 5th finger
................... HP:0009390 Small epiphyses of the 5th finger
................... HP:0009391 Stippling of the epiphyses of the 5th finger
................... HP:0009392 Triangular epiphyses of the 5th finger
........expandDeviation of the 5th finger (HP:0009179) help
................... HP:0004209 Clinodactyly of the 5th finger
................... HP:0009180 Ulnar deviation of the 5th finger
................... HP:0040020 Radial deviation of the 5th finger
........expandJoint contracture of the 5th finger (HP:0009183) help
................... HP:0009184 Contracture of the distal interphalangeal joint of the 5th finger
................... HP:0009185 Contracture of the proximal interphalangeal joint of the 5th finger
................... HP:0009186 Contracture of the metacarpophalangeal joint of the 5th finger
........expandPassive dorsiflexion of the 5th finger more than 90 degrees (HP:0031534) help

 Sister Nodes: 
..expandAbnormal 2nd finger morphology (HP:0004100) help
..expandAbnormal 3rd finger morphology (HP:0004150) help
..expandAbnormal 4th finger morphology (HP:0004188) help
..expandAbnormal finger flexion creases (HP:0006143) help
..expandAbnormal finger phalanx morphology (HP:0005918) help
..expandAbnormal fingertip morphology (HP:0001211) help
..expandAbnormal thumb morphology (HP:0001172) help
..expandAplasia/Hypoplasia of fingers (HP:0006265) help
..expandBroad finger (HP:0001500) help
..expandChilblains (HP:0009710) help
..expandCurved fingers (HP:0004095) help
..expandDeviation of finger (HP:0004097) help
..expandFinger dactylitis (HP:0031090) help
..expandFinger joint hypermobility (HP:0006094) help
..expandFinger swelling (HP:0025131) help
..expandLong fingers (HP:0100807) help
..expandMacrodactyly of finger (HP:0100746) help
..expandMallet finger (HP:0030771) help
..expandSlender finger (HP:0001238) help
..expandSpindle-shaped finger (HP:0031092) help
..expandSplayed fingers (HP:0030029) help
..expandSwan neck-like deformities of the fingers (HP:0006150) help
..expandTrident hand (HP:0004060) 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:0004207HP:0004207Abnormal 5th finger morphology0 CL E G H
HP:0004207HP:0004207Abnormal 5th finger morphology1 CL E G H
HP:0004207HP:0004207Abnormal 5th finger morphology2 CL E G H
HP:0004207HP:0004207Abnormal 5th finger morphology3 CL E G H
HP:0004207HP:0004207Abnormal 5th finger morphology4 CL E G H


Genes (330) :A2ML1 ACVR1 AKT1 AKT3 ALX3 AMER1 AMMECR1 ARID1A ARID1B ARID2 ARL6 ATR ATRIP ATRX B3GLCT B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BCR BHLHA9 BLM BMP2 BMP4 BMPR1B BRAF BRAT1 BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C12ORF57 C8ORF37 CANT1 CC2D2A CCDC8 CCND2 CCNQ CD96 CDC45 CDC6 CDKL5 CDT1 CENPE CENPJ CEP120 CEP152 CEP290 CEP55 CEP57 CHD7 CHRNA7 CHST3 CITED2 CKAP2L CLIP2 COL11A1 COL2A1 CREBBP CRKL CSPP1 CUL4B CUL7 DACT1 DDX59 DEAF1 DHCR7 DONSON DPAGT1 DPF2 DVL1 DVL3 DYM DYNC2H1 DYNC2LI1 EBP EFNB1 EIF4A3 ELN EMG1 EP300 ERCC4 ESCO2 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGD1 FGF10 FGFR2 FGFR3 FLII FLNA FLNB FOXG1 FZD2 GABBR2 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF5 GJA1 GJA5 GLI2 GLI3 GMNN GPC3 GPC4 GTF2I GTF2IRD1 H19 HDAC4 HDAC8 HIC1 HMGA2 HOXA11 HOXA13 HOXD13 HYLS1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT80 IGF1 IGF2 IHH INPP5E IQSEC2 JAG1 KAT6B KCNAB2 KCNJ2 KDM1A KDM6A KIF7 KLF13 KMT2A KMT2D KPTN KRAS L1CAM LBR LEMD3 LIFR LIG4 LIMK1 LMBR1 LMX1B LZTFL1 LZTR1 MAD2L2 MAPK1 MASP1 MBD5 MBTPS2 MECOM MECP2 MEGF8 MEIS2 MKKS MKS1 MLXIPL MYCN NAA10 NEK1 NIPBL NKX2-5 NKX2-6 NOG NPHP1 NRAS NSUN2 NTNG1 NXN OBSL1 OFD1 ORC1 ORC4 ORC6 PAFAH1B1 PALB2 PCNT PDE6D PIEZO2 PIGH PIGL PIGN PIGS PIK3R2 PITX1 PLAA PLK4 PLXND1 PNPLA6 PORCN PPP2R1A PQBP1 PRDM16 PTEN PTH1R PTPN11 PUF60 RAB18 RAB23 RAD21 RAD51 RAD51C RAF1 RAI1 RAP1A RAP1B RASA2 RB1 RBBP8 RBM8A RERE REV3L RFC2 RFWD3 RIT1 RNF216 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RRAS RUNX2 SALL1 SATB2 SC5D SDCCAG8 SEMA3E SETBP1 SETD5 SH3PXD2B SHANK3 SHH SHOX SIM1 SKI SLC26A2 SLC2A10 SLX4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMOC1 SNRPB SOS1 SOS2 SOX11 SPECC1L SRCAP STXBP1 SUFU TBC1D24 TBL2 TBX1 TBX15 TBX3 TBX4 TCTN2 TCTN3 TFAP2A TFAP2B TGDS TGFBR1 TMCO1 TMEM107 TMEM216 TMEM231 TMEM67 TP63 TRAIP TRAPPC9 TRIM32 TRIP13 TRPS1 TRPV4 TTC21B TTC8 TWIST1 UBE2T UBE3A UBE3B UBR1 VPS13B WDPCP WDR19 WDR34 WDR35 WDR60 WNT5A WNT7A XRCC2 XRCC4 XYLT1 YWHAE ZC4H2 ZDHHC15 ZDHHC9 ZFPM2 ZNF141

Diseases (274) :83473 615937 136760 110 564 209900 615981 3329 2098 617406 216360 1454 612284 615938 211750 474 611134 143095 93296 2919 174300 818 270400 93271 617088 952 225500 193530 101200 304120 200700 164200 610829 380 36 175700 146510 174200 373 312870 2438 176305 2189 236680 615630 611263 213300 200990 215140 3332 174500 85284 308205 65759 2473 236700 249000 2751 263520 2750 615665 186550 521426 305600 616362 201000 611560 611561 46059 607330 269150 1106 206920 3138 181450 616654 613885 2753 609192 213980 608091 603194 2752 607361 217085 613610 228930 300799 615226 648 337 135100 744 300373 300990 251056 808 210600 847 709 261540 904 568 2712 261330 157801 609432 210900 93396 617877 112600 607932 93384 93388 616849 115150 618056 84 1052 1777 1425 2616 140952 300707 1308 2554 3095 613823 236500 138 199318 612001 3303 3255 228520 180849 85293 273750 857 819 617604 86309 608093 3107 223800 35173 1520 304110 268305 194050 1270 211180 3103 915 305400 149730 794 101400 272460 1606 187500 3250 113100 2710 186100 672 180860 1001 199 300882 531 94063 71289 605432 140000 93406 186000 1515 73272 112500 3047 170390 616728 2322 147920 300867 319182 605130 615637 2466 601559 99812 235 161200 257920 228402 778 600987 122470 1507 612921 224690 217385 2637 210720 376 618010 280000 2059 618143 1275 570 1173 309500 156400 508488 615583 614222 1587 606744 3320 274000 2636 616651 1452 251019 137834 48652 606232 240 171829 93307 3342 610759 1393 117650 1519 2044 136140 79500 260660 261279 113620 46627 169100 616145 1388 69085 1071 352530 77258 2635 238446 244450 243800 193 3454 300577 1465 135900 271700 180700 190685 63442 615072 257850 93409 164280 251255 268310 119600 156510 615298 184460
 

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