Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal thumb morphology (HP:0001172)help
Grandparent Node:
expand
Triangular shaped phalanges of the hand (HP:0009774)help
Parent Node:
expand
Abnormality of thumb phalanx (HP:0009602)help
..Starting node
..expand
Triphalangeal thumb (HP:0001199)help
Term ID: 1199
Name: Triphalangeal thumb
Synonym: Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb
Definition: A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Comments:
Reference: HP:0001199
Genes and Diseases:
 
       Child Nodes:
........expandBilateral triphalangeal thumbs (HP:0005707) help
........expandNonopposable triphalangeal thumb (HP:0005725) help
........expandOpposable triphalangeal thumb (HP:0005866) help

 Sister Nodes: 
..expandAbnormality of the distal phalanx of the thumb (HP:0009617) help
..expandAbnormality of the proximal phalanx of the thumb (HP:0009618) help
..expandAplasia/Hypoplasia of the phalanges of the thumb (HP:0009658) help
..expandBroad thumb (HP:0011304) help
..expandBullet-shaped thumb phalanx (HP:0009652) help
..expandCurved thumb phalanx (HP:0009653) help
..expandDuplication of thumb phalanx (HP:0009942) help
..expandOsteolytic defect of thumb phalanx (HP:0009654) help
..expandSclerosis of thumb phalanx (HP:0100922) help
..expandTriangular shaped thumb phalanx (HP:0009657) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001199HP:0001199Triphalangeal thumb0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0001199HP:0001199Triphalangeal thumb0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040282 - Frequent5
HP:0001199HP:0001199Triphalangeal thumb0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominantHP:0040283 - Occasional5
HP:0001199HP:0001199Triphalangeal thumb0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0001199HP:0001199Triphalangeal thumb0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0001199HP:0001199Triphalangeal thumb0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0001199HP:0001199Triphalangeal thumb0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0001199HP:0001199Triphalangeal thumb0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001199HP:0001199Triphalangeal thumb0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent2
HP:0001199HP:0001199Triphalangeal thumb0DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 1.3
HP:0001199HP:0001199Triphalangeal thumb0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0001199HP:0001199Triphalangeal thumb0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0001199HP:0001199Triphalangeal thumb0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0001199HP:0001199Triphalangeal thumb0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0001199HP:0001199Triphalangeal thumb0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0001199HP:0001199Triphalangeal thumb0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001199HP:0001199Triphalangeal thumb0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0001199HP:0001199Triphalangeal thumb0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001199HP:0001199Triphalangeal thumb0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0001199HP:0001199Triphalangeal thumb0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0001199HP:0001199Triphalangeal thumb0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0001199HP:0001199Triphalangeal thumb0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0001199HP:0001199Triphalangeal thumb0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0001199HP:0001199Triphalangeal thumb0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0001199HP:0001199Triphalangeal thumb0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0001199HP:0001199Triphalangeal thumb0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0001199HP:0001199Triphalangeal thumb0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0001199HP:0001199Triphalangeal thumb0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040282 - Frequent270
HP:0001199HP:0001199Triphalangeal thumb0GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1HP:0040283 - Occasional270
HP:0001199HP:0001199Triphalangeal thumb0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0001199HP:0001199Triphalangeal thumb0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040282 - Frequent167
HP:0001199HP:0001199Triphalangeal thumb0LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome.106
HP:0001199HP:0001199Triphalangeal thumb0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040281 - Very frequent106
HP:0001199HP:0001199Triphalangeal thumb0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0001199HP:0001199Triphalangeal thumb0LMBR1 CL E G H6432713243ORPHA:93405Syndactyly type 4HP:0040283 - Occasional106
HP:0001199HP:0001199Triphalangeal thumb0LMBR1 CL E G H6432713243OMIM:186200Syndactyly, type IV106
HP:0001199HP:0001199Triphalangeal thumb0LMBR1 CL E G H6432713243OMIM:188740Tibia, hypoplasia or aplasia of, with polydactyly106
HP:0001199HP:0001199Triphalangeal thumb0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0001199HP:0001199Triphalangeal thumb0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001199HP:0001199Triphalangeal thumb0MSX2 CL E G H44887392OMIM:604757Craniosynostosis 2HP:0040283 - Occasional45
HP:0001199HP:0001199Triphalangeal thumb0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0001199HP:0001199Triphalangeal thumb0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001199HP:0001199Triphalangeal thumb0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001199HP:0001199Triphalangeal thumb0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0001199HP:0001199Triphalangeal thumb0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0001199HP:0001199Triphalangeal thumb0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0001199HP:0001199Triphalangeal thumb0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0001199HP:0001199Triphalangeal thumb0RPL11 CL E G H613510301OMIM:612562Diamond-Blackfan anemia 722
HP:0001199HP:0001199Triphalangeal thumb0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0001199HP:0001199Triphalangeal thumb0RPL15 CL E G H613810306OMIM:615550Diamond-Blackfan anemia 12.3
HP:0001199HP:0001199Triphalangeal thumb0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0001199HP:0001199Triphalangeal thumb0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0001199HP:0001199Triphalangeal thumb0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001199HP:0001199Triphalangeal thumb0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0001199HP:0001199Triphalangeal thumb0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0001199HP:0001199Triphalangeal thumb0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0001199HP:0001199Triphalangeal thumb0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0001199HP:0001199Triphalangeal thumb0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 640
HP:0001199HP:0001199Triphalangeal thumb0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0001199HP:0001199Triphalangeal thumb0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0001199HP:0001199Triphalangeal thumb0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0001199HP:0001199Triphalangeal thumb0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0001199HP:0001199Triphalangeal thumb0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0001199HP:0001199Triphalangeal thumb0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001199HP:0001199Triphalangeal thumb0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0001199HP:0001199Triphalangeal thumb0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0001199HP:0001199Triphalangeal thumb0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001199HP:0001199Triphalangeal thumb0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001199HP:0001199Triphalangeal thumb0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0001199HP:0001199Triphalangeal thumb0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0001199HP:0001199Triphalangeal thumb0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent124
HP:0001199HP:0001199Triphalangeal thumb0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0001199HP:0001199Triphalangeal thumb0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0001199HP:0001199Triphalangeal thumb0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001199HP:0001199Triphalangeal thumb0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0001199HP:0001199Triphalangeal thumb0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0001199HP:0001199Triphalangeal thumb0SALL4 CL E G H5716715924ORPHA:2307IVIC syndromeHP:0040282 - Frequent86
HP:0001199HP:0001199Triphalangeal thumb0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0001199HP:0001199Triphalangeal thumb0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040283 - Occasional49
HP:0001199HP:0001199Triphalangeal thumb0SHH CL E G H646910848ORPHA:93405Syndactyly type 4HP:0040283 - Occasional67
HP:0001199HP:0001199Triphalangeal thumb0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0001199HP:0001199Triphalangeal thumb0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0001199HP:0001199Triphalangeal thumb0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0001199HP:0001199Triphalangeal thumb0TBX5 CL E G H691011604ORPHA:392Holt-Oram syndromeHP:0040282 - Frequent123
HP:0001199HP:0001199Triphalangeal thumb0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0001199HP:0001199Triphalangeal thumb0TP63 CL E G H862615979OMIM:605289Split-Hand/foot malformation 4.140
HP:0001199HP:0001199Triphalangeal thumb0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001199HP:0001199Triphalangeal thumb0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0001199HP:0001199Triphalangeal thumb0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0001199HP:0001199Triphalangeal thumb0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0001199HP:0005725Nonopposable triphalangeal thumb1 CL E G H
HP:0001199HP:0005707Bilateral triphalangeal thumbs1ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0001199HP:0005707Bilateral triphalangeal thumbs1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0001199HP:0005707Bilateral triphalangeal thumbs1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0001199HP:0005707Bilateral triphalangeal thumbs1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0001199HP:0005866Opposable triphalangeal thumb1LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial IIHP:0040281 - Very frequent106
HP:0001199HP:0005707Bilateral triphalangeal thumbs1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS


Genes (68) :ADA2 ATP6V1B2 BRCA1 BRCA2 BRIP1 CHN1 DACT1 DLX5 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 GATA1 GLI3 KCNN3 KIF7 LMBR1 MAD2L2 MAFB MSX2 PALB2 PIGB PIGF RAD51 RAD51C RFWD3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL1 SALL4 SF3B4 SHH SLX4 TBC1D24 TBX5 TP63 TSR2 TWIST1 UBE2T XRCC2

Diseases (37) :ORPHA:124 ORPHA:79499 OMIM:124480 ORPHA:79500 ORPHA:84 ORPHA:233 ORPHA:857 OMIM:183600 OMIM:149730 ORPHA:794 ORPHA:36 OMIM:174200 OMIM:618658 OMIM:135750 ORPHA:2378 OMIM:174500 ORPHA:93405 OMIM:186200 OMIM:188740 OMIM:604757 OMIM:618580 OMIM:619356 OMIM:612562 OMIM:615550 OMIM:612561 OMIM:105650 OMIM:107480 ORPHA:959 OMIM:607323 OMIM:147750 ORPHA:2307 OMIM:154400 ORPHA:245 OMIM:220500 ORPHA:392 OMIM:142900 OMIM:605289
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.