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 thumb morphology (HP:0001172)help
Term ID: 1172
Name: Abnormal thumb morphology
Synonym: Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity
Definition: An abnormal structure of the first digit of the hand.
Comments:
Reference: HP:0001172
Genes and Diseases:
 
       Child Nodes:
........expandPreaxial hand polydactyly (HP:0001177) help
........expandAdducted thumb (HP:0001181) help
........expandAbnormality of thumb epiphysis (HP:0009599) help
................... HP:0009662 Abnormality of the epiphysis of the distal phalanx of the thumb
................... HP:0009663 Abnormality of the epiphysis of the proximal phalanx of the thumb
................... HP:0009686 Absent epiphyses of the thumb
................... HP:0009687 Bracket epiphyses of the thumb
................... HP:0009688 Cone-shaped epiphysis of the thumb
................... HP:0009689 Enlarged thumb epiphysis
................... HP:0009690 Fragmentation of thumb epiphysis
................... HP:0009691 Irregular thumb epiphysis
................... HP:0009692 Ivory epiphysis of the thumb
................... HP:0009693 Pseudoepiphysis of the thumb
................... HP:0009694 Small thumb epiphysis
................... HP:0009695 Stippling of thumb epiphysis
................... HP:0009696 Triangular epiphyses of the thumb
........expandFlexion contracture of thumb (HP:0009600) help
................... HP:0009624 Contractures of the carpometacarpal joint of the thumb
................... HP:0009625 Contractures of the metacarpophalangeal joint of the thumb
................... HP:0009626 Contractures of the interphalangeal joint of the thumb
........expandAplasia/Hypoplasia of the thumb (HP:0009601) help
................... HP:0009659 Partial absence of thumb
................... HP:0009777 Absent thumb
................... HP:0009778 Short thumb
........expandAbnormality of thumb phalanx (HP:0009602) help
................... HP:0001199 Triphalangeal thumb
................... HP:0009617 Abnormality of the distal phalanx of the thumb
................... HP:0009618 Abnormality of the proximal phalanx of the thumb
................... HP:0009652 Bullet-shaped thumb phalanx
................... HP:0009653 Curved thumb phalanx
................... HP:0009654 Osteolytic defect of thumb phalanx
................... HP:0009657 Triangular shaped thumb phalanx
................... HP:0009658 Aplasia/Hypoplasia of the phalanges of the thumb
................... HP:0009942 Duplication of thumb phalanx
................... HP:0011304 Broad thumb
................... HP:0100922 Sclerosis of thumb phalanx
........expandDeviation of the thumb (HP:0009603) help
................... HP:0001234 Hitchhiker thumb
................... HP:0009622 Distally placed thumb
................... HP:0009623 Proximal placement of thumb
................... HP:0040021 Radial deviation of the thumb
................... HP:0040023 Clinodactyly of the thumb

 Sister Nodes: 
..expandAbnormal 2nd finger morphology (HP:0004100) help
..expandAbnormal 3rd finger morphology (HP:0004150) help
..expandAbnormal 4th finger morphology (HP:0004188) help
..expandAbnormal 5th finger morphology (HP:0004207) help
..expandAbnormal finger flexion creases (HP:0006143) help
..expandAbnormal finger phalanx morphology (HP:0005918) help
..expandAbnormal fingertip morphology (HP:0001211) 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:
HP:0001172HP:0001172Abnormal thumb morphology0BMPR1B CL E G H6582639ORPHA1241951077603248
HP:0001172HP:0001172Abnormal thumb morphology0FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923253588602956
HP:0001172HP:0001172Abnormal thumb morphology0GDF5 CL E G H82002639ORPHA159984220601146
HP:0001172HP:0001172Abnormal thumb morphology1BMPR1B CL E G H6582639ORPHA1241951077603248
HP:0001172HP:0001172Abnormal thumb morphology1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923253588602956
HP:0001172HP:0001172Abnormal thumb morphology1GDF5 CL E G H82002639ORPHA159984220601146
HP:0001172HP:0001172Abnormal thumb morphology2BMPR1B CL E G H6582639ORPHA1241951077603248
HP:0001172HP:0001172Abnormal thumb morphology2FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923253588602956
HP:0001172HP:0001172Abnormal thumb morphology2GDF5 CL E G H82002639ORPHA159984220601146
HP:0001172HP:0001172Abnormal thumb morphology3BMPR1B CL E G H6582639ORPHA1241951077603248
HP:0001172HP:0001172Abnormal thumb morphology3FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923253588602956
HP:0001172HP:0001172Abnormal thumb morphology3GDF5 CL E G H82002639ORPHA159984220601146
HP:0001172HP:0001172Abnormal thumb morphology4BMPR1B CL E G H6582639ORPHA1241951077603248
HP:0001172HP:0001172Abnormal thumb morphology4FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923253588602956
HP:0001172HP:0001172Abnormal thumb morphology4GDF5 CL E G H82002639ORPHA159984220601146
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001172HP:0001172Abnormal thumb morphology0OPA3 CL E G H8020767036ORPHA0153188142606580
HP:0001172HP:0001172Abnormal thumb morphology0RUNX2 CL E G H8601452ORPHA022018110472600211
HP:0001172HP:0001172Abnormal thumb morphology0SPART CL E G H23111101000ORPHA0718318514607111
HP:0001172HP:0001172Abnormal thumb morphology1OPA3 CL E G H8020767036ORPHA0153188142606580
HP:0001172HP:0001172Abnormal thumb morphology1RUNX2 CL E G H8601452ORPHA022018110472600211
HP:0001172HP:0001172Abnormal thumb morphology1SPART CL E G H23111101000ORPHA0718318514607111
HP:0001172HP:0001172Abnormal thumb morphology2OPA3 CL E G H8020767036ORPHA0153188142606580
HP:0001172HP:0001172Abnormal thumb morphology2RUNX2 CL E G H8601452ORPHA022018110472600211
HP:0001172HP:0001172Abnormal thumb morphology2SPART CL E G H23111101000ORPHA0718318514607111
HP:0001172HP:0001172Abnormal thumb morphology3OPA3 CL E G H8020767036ORPHA0153188142606580
HP:0001172HP:0001172Abnormal thumb morphology3RUNX2 CL E G H8601452ORPHA022018110472600211
HP:0001172HP:0001172Abnormal thumb morphology3SPART CL E G H23111101000ORPHA0718318514607111
HP:0001172HP:0001172Abnormal thumb morphology4OPA3 CL E G H8020767036ORPHA0153188142606580
HP:0001172HP:0001172Abnormal thumb morphology4RUNX2 CL E G H8601452ORPHA022018110472600211
HP:0001172HP:0001172Abnormal thumb morphology4SPART CL E G H23111101000ORPHA0718318514607111


Genes (272) :ACAN ACTA1 ACTB ACTG1 ACVR1 ADAMTS10 ADGRG6 ALDH18A1 ALG13 ALG3 ANKLE2 ANKRD11 AP4M1 APC ATAD1 ATP6V1B2 B3GAT3 B3GLCT B9D1 B9D2 BAZ1B BCOR BHLHA9 BMP2 BMP4 BMPR1B BPTF BRCA1 BRCA2 BRIP1 CANT1 CC2D2A CDC42 CEP290 CEP55 CHD7 CHN1 CHST11 CHST14 CHST3 CHSY1 CLIP2 COG7 COL12A1 COL25A1 COL2A1 COL6A1 COL6A2 COL6A3 CPLANE1 CPLX1 CREBBP CRIPT CRLF1 CRPPA CSPP1 CTBP1 CWF19L1 DACT1 DHCR7 DHODH DSE DVL1 DVL3 DYNC2H1 ECE1 ECEL1 EDN3 EDNRB EED EFTUD2 EIF4A3 ELN EP300 ERCC1 ERCC4 ESCO2 EXOSC2 EXOSC9 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FLNB FRAS1 FZD2 G6PC3 GATA4 GDF5 GDNF GJA1 GJA5 GJA8 GLI3 GNAS GPC3 GPC4 GPKOW GTF2I GTF2IRD1 HDAC8 HOXA13 HOXD13 HYLS1 IFT80 IHH INPPL1 INTU KCNH1 KDM1A KIAA1109 KIF7 KLHL40 KLHL41 KMT2A L1CAM LAGE3 LETM1 LIFR LIG4 LIMK1 LMBR1 LMNB2 LMOD3 LONP1 LRP4 LTBP2 MAD2L2 MAFB MAP3K7 MED12 MEGF8 MEIS2 MGAT2 MGP MIR17HG MKS1 MSX2 MYBPC1 MYH3 NAA10 NALCN NEB NEK1 NEK9 NELFA NIPBL NOG NRTN NSD1 NSD2 NSUN2 NUP107 NXN OFD1 OPA3 OSGEP OTUD6B PAH PALB2 PCNT PHF8 PHGDH PLXND1 PRKD1 PSMD12 PTCH1 PTCH2 PTEN PTRH2 RAB23 RAD21 RAD51 RAD51C RB1 RBM8A RECQL4 RET REV3L RFC2 RFT1 RFWD3 RIPK4 RLIM ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL26 RPL5 RPS19 RSPO2 RUNX2 SALL1 SALL4 SATB2 SEMA3C SEMA3D SEMA3E SETBP1 SETD5 SF3B4 SHH SIN3A SLC26A2 SLC9A6 SLX4 SMC1A SMC3 SMO SMOC1 SNIP1 SON SPART SRCAP STUB1 SUFU SUMF1 SUZ12 TAPT1 TBC1D24 TBL2 TBX5 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM67 TNNI2 TNNT3 TP53RK TP63 TPM2 TPRKB TWIST1 UBA1 UBE2T USP9X VAC14 WDPCP WDR34 WDR35 WDR4 WDR60 WDR73 WHCR WNT5A XRCC2 XYLT1 ZBTB16 ZC4H2 ZIC3

Diseases (275) :2639 614082 67036 1452 101000 171430 616503 616603 219150 324422 601110 616681 612936 618011 564 904 3329 609432 607932 2098 233 618167 601776 608779 75840 277170 194190 272430 614643 857 615539 93271 388 615065 79113 610536 610758 3103 618065 284979 121050 93258 87 93259 101200 219000 2710 380 175700 2570 887 236680 611816 617822 200990 2182 303350 307000 2065 280 601559 235 3332 2378 174500 1146 1147 193700 616266 263520 617022 2750 85287 79351 601815 570 1587 3320 274000 1225 218600 612015 107480 959 2307 245 154400 85278 300243 1553 601707 412057 616897 2753 1297 113620 1896 108120 1145 435804 171866 165800 612813 2995 3449 261250 3258 79499 124480 261540 2712 157801 261295 139471 93388 529962 84 617883 605724 609054 616737 214800 605282 271700 180849 615789 453521 818 270400 263750 180700 616331 616894 613870 3447 617561 268305 613684 615272 269000 617763 277590 227650 300514 314390 227645 227646 600901 609053 614083 3237 612961 101600 794 93260 3472 216340 90650 90652 304120 503 108721 612541 251071 968 201250 612474 672 36 174200 373 312870 199 300882 2438 140000 2746 616728 93405 135750 186200 616540 600373 305450 309520 65759 614976 600987 212066 245150 614326 604757 122470 611377 184460 1507 505237 617452 610832 617364 617516 109 616263 613390 221016 266280 268400 617784 1234 263650 300978 268310 113000 612562 615550 614900 612561 105650 618022 607323 147750 251019 94065 613406 628 56304 222600 613951 300590 610759 1106 614501 500150 2044 585 272200 79500 220500 142900 392 605289 616435 300919 615777 612447 314580 245600 568 93384 616849 149730 311300 150250 174700 79444 79443 113200 607778 112500 617926 616730 135100 251450 1826 93328 164745 63442 113100 186570 2209 210720 109400 201000 798 269150
 

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