Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
expand
Abnormal foot morphology (HP:0001760)help
Parent Node:
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Abnormality of toe (HP:0001780)help
..Starting node
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Abnormality of the phalanges of the toes (HP:0010161)help
Term ID: 10161
Name: Abnormality of the phalanges of the toes
Synonym: Abnormality of the long bones of the toes
Definition:
Comments:
Reference: HP:0010161
Genes and Diseases:
 
       Child Nodes:
........expandShortening of all phalanges of the toes (HP:0005035) help
................... HP:0001857 Short distal phalanx of toe
........expandAbnormality of the phalanges of the hallux (HP:0010057) help
................... HP:0010052 Abnormality of the proximal phalanx of the hallux
................... HP:0010053 Abnormality of the distal phalanx of the hallux
................... HP:0010058 Aplasia/Hypoplasia of the phalanges of the hallux
................... HP:0010059 Broad hallux phalanx
................... HP:0010060 Bullet-shaped hallux phalanx
................... HP:0010061 Curved hallux phalanx
................... HP:0010062 Osteolytic defects of the phalanges of the hallux
................... HP:0010063 Patchy sclerosis of hallux phalanx
................... HP:0010064 Symphalangism affecting the phalanges of the hallux
................... HP:0010065 Triangular shaped phalanges of the hallux
................... HP:0010066 Duplication of phalanx of hallux
........expandAplasia/Hypoplasia of the phalanges of the toes (HP:0010173) help
................... HP:0010058 Aplasia/Hypoplasia of the phalanges of the hallux
................... HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes
................... HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes
................... HP:0010203 Aplasia/hypoplasia of proximal toe phalanx
................... HP:0010347 Aplasia/Hypoplasia of the phalanges of the 2nd toe
................... HP:0010359 Aplasia/Hypoplasia of the phalanges of the 3rd toe
................... HP:0010371 Aplasia/Hypoplasia of the phalanges of the 4th toe
................... HP:0010383 Aplasia/Hypoplasia of the phalanges of the 5th toe
................... HP:0010745 Aplasia of the phalanges of the toes
................... HP:0010746 Hypoplasia of the phalanges of the toes
........expandBroad phalanx of the toes (HP:0010174) help
................... HP:0010059 Broad hallux phalanx
................... HP:0010186 Broad distal phalanx of the toes
................... HP:0010195 Broad middle phalanges of the toes
................... HP:0010204 Broad proximal phalanx of toe
................... HP:0010348 Broad phalanges of the 2nd toe
................... HP:0010360 Broad phalanges of the 3rd toe
................... HP:0010372 Broad phalanges of the 4th toe
................... HP:0010384 Broad phalanges of the 5th toe
........expandBullet-shaped toe phalanx (HP:0010175) help
................... HP:0010060 Bullet-shaped hallux phalanx
................... HP:0010187 Bullet-shaped distal toe phalanx
................... HP:0010196 Bullet-shaped middle toe phalanx
................... HP:0010205 Bullet-shaped proximal toe phalanx
................... HP:0010349 Bullet-shaped 2nd toe phalanx
................... HP:0010361 Bullet-shaped 3rd toe phalanx
................... HP:0010373 Bullet-shaped 4th toe phalanx
................... HP:0010385 Bullet-shaped 5th toe phalanx
........expandCurved toe phalanx (HP:0010176) help
................... HP:0010061 Curved hallux phalanx
................... HP:0010188 Curved distal toe phalanx
................... HP:0010197 Curved middle toe phalanx
................... HP:0010206 Curved proximal toe phalanx
................... HP:0010350 Curved 2nd toe phalanx
................... HP:0010362 Curved 3rd toe phalanx
................... HP:0010374 Curved 4th toe phalanx
................... HP:0010386 Curved 5th toe phalanx
........expandOsteolytic defects of the phalanges of the toes (HP:0010177) help
................... HP:0001842 Foot acroosteolysis
................... HP:0010062 Osteolytic defects of the phalanges of the hallux
................... HP:0010189 Osteolytic defects of the distal phalanges of the toes
................... HP:0010198 Osteolytic defects of the middle phalanges of the toes
................... HP:0010207 Osteolytic defect of the proximal toe phalanx
................... HP:0010351 Osteolytic defects of the phalanges of the 2nd toe
................... HP:0010363 Osteolytic defects of the phalanges of the 3rd toe
................... HP:0010375 Osteolytic defects of the phalanges of the 4th toe
................... HP:0010387 Osteolytic defects of the phalanges of the 5th toe
........expandSymphalangism affecting the phalanges of the toes (HP:0010179) help
................... HP:0001859 Distal foot symphalangism
................... HP:0010064 Symphalangism affecting the phalanges of the hallux
................... HP:0010191 Symphalangism affecting the distal phalanges of the toes
................... HP:0010200 Symphalangism affecting the middle phalanges of the toes
................... HP:0010209 Symphalangism affecting the proximal phalanges of the toes
................... HP:0010353 Symphalangism affecting the phalanges of the 2nd toe
................... HP:0010365 Symphalangism affecting the phalanges of the 3rd toe
................... HP:0010377 Symphalangism affecting the phalanges of the 4th toe
................... HP:0010389 Symphalangism affecting the phalanges of the 5th toe
................... HP:0100237 Proximal foot symphalangism
........expandTriangular shaped phalanges of the toes (HP:0010180) help
................... HP:0010065 Triangular shaped phalanges of the hallux
................... HP:0010192 Triangular shaped distal phalanges of the toes
................... HP:0010201 Triangular shaped middle phalanges of the toes
................... HP:0010210 Triangular shaped proximal phalanges of the toes
................... HP:0010354 Triangular shaped phalanges of the 2nd toe
................... HP:0010366 Triangular shaped phalanges of the 3rd toe
................... HP:0010378 Triangular shaped phalanges of the 4th toe
................... HP:0010390 Triangular shaped phalanges of the 5th toe
........expandDuplication of phalanx of toe (HP:0010181) help
................... HP:0010066 Duplication of phalanx of hallux
................... HP:0010355 Duplication of the phalanges of the 2nd toe
................... HP:0010367 Duplication of phalanx of the 3rd toe
................... HP:0010379 Duplication of phalanx of the 4th toe
................... HP:0010391 Duplication of the phalanges of the 5th toe
........expandAbnormality of the distal phalanges of the toes (HP:0010182) help
................... HP:0010053 Abnormality of the distal phalanx of the hallux
................... HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes
................... HP:0010186 Broad distal phalanx of the toes
................... HP:0010187 Bullet-shaped distal toe phalanx
................... HP:0010188 Curved distal toe phalanx
................... HP:0010189 Osteolytic defects of the distal phalanges of the toes
................... HP:0010191 Symphalangism affecting the distal phalanges of the toes
................... HP:0010192 Triangular shaped distal phalanges of the toes
................... HP:0010193 Duplication of distal phalanx of toe
................... HP:0010356 Abnormality of the distal phalanx of the 2nd toe
................... HP:0010368 Abnormality of the distal phalanx of the 3rd toe
................... HP:0010380 Abnormality of the distal phalanx of the 4th toe
................... HP:0010392 Abnormality of the distal phalanx of the 5th toe
................... HP:0100948 Sclerosis of distal toe phalanx
........expandAbnormality of the middle phalanges of the toes (HP:0010183) help
................... HP:0003795 Short middle phalanx of toe
................... HP:0010052 Abnormality of the proximal phalanx of the hallux
................... HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes
................... HP:0010195 Broad middle phalanges of the toes
................... HP:0010196 Bullet-shaped middle toe phalanx
................... HP:0010197 Curved middle toe phalanx
................... HP:0010198 Osteolytic defects of the middle phalanges of the toes
................... HP:0010200 Symphalangism affecting the middle phalanges of the toes
................... HP:0010201 Triangular shaped middle phalanges of the toes
................... HP:0010202 Duplication of middle phalanx of toe
................... HP:0010357 Abnormality of the middle phalanx of the 2nd toe
................... HP:0010369 Abnormality of the middle phalanx of the 3rd toe
................... HP:0010381 Abnormality of the middle phalanx of the 4th toe
................... HP:0010393 Abnormality of the middle phalanx of the 5th toe
................... HP:0100947 Sclerosis of middle toe phalanx
........expandAbnormality of toe proximal phalanx (HP:0010184) help
................... HP:0010203 Aplasia/hypoplasia of proximal toe phalanx
................... HP:0010204 Broad proximal phalanx of toe
................... HP:0010205 Bullet-shaped proximal toe phalanx
................... HP:0010206 Curved proximal toe phalanx
................... HP:0010207 Osteolytic defect of the proximal toe phalanx
................... HP:0010209 Symphalangism affecting the proximal phalanges of the toes
................... HP:0010210 Triangular shaped proximal phalanges of the toes
................... HP:0010211 Duplication of proximal phalanx of toe
................... HP:0010358 Abnormality of the proximal phalanx of the 2nd toe
................... HP:0010370 Abnormality of the proximal phalanx of the 3rd toe
................... HP:0010382 Abnormality of the proximal phalanx of the 4th toe
................... HP:0010394 Abnormality of the proximal phalanx of the 5th toe
................... HP:0011928 Short proximal phalanx of toe
................... HP:0100946 Sclerosis of proximal toe phalanx
........expandAbnormality of phalanx of the 2nd toe (HP:0010324) help
................... HP:0010347 Aplasia/Hypoplasia of the phalanges of the 2nd toe
................... HP:0010348 Broad phalanges of the 2nd toe
................... HP:0010349 Bullet-shaped 2nd toe phalanx
................... HP:0010350 Curved 2nd toe phalanx
................... HP:0010351 Osteolytic defects of the phalanges of the 2nd toe
................... HP:0010352 Patchy sclerosis of 2nd toe phalanx
................... HP:0010353 Symphalangism affecting the phalanges of the 2nd toe
................... HP:0010354 Triangular shaped phalanges of the 2nd toe
................... HP:0010355 Duplication of the phalanges of the 2nd toe
................... HP:0010356 Abnormality of the distal phalanx of the 2nd toe
................... HP:0010357 Abnormality of the middle phalanx of the 2nd toe
................... HP:0010358 Abnormality of the proximal phalanx of the 2nd toe
........expandAbnormality of the phalanges of the 3rd toe (HP:0010330) help
................... HP:0010359 Aplasia/Hypoplasia of the phalanges of the 3rd toe
................... HP:0010360 Broad phalanges of the 3rd toe
................... HP:0010361 Bullet-shaped 3rd toe phalanx
................... HP:0010362 Curved 3rd toe phalanx
................... HP:0010363 Osteolytic defects of the phalanges of the 3rd toe
................... HP:0010364 Patchy sclerosis of 3rd toe phalanx
................... HP:0010365 Symphalangism affecting the phalanges of the 3rd toe
................... HP:0010366 Triangular shaped phalanges of the 3rd toe
................... HP:0010367 Duplication of phalanx of the 3rd toe
................... HP:0010368 Abnormality of the distal phalanx of the 3rd toe
................... HP:0010369 Abnormality of the middle phalanx of the 3rd toe
................... HP:0010370 Abnormality of the proximal phalanx of the 3rd toe
........expandAbnormality of the phalanges of the 4th toe (HP:0010336) help
................... HP:0010371 Aplasia/Hypoplasia of the phalanges of the 4th toe
................... HP:0010372 Broad phalanges of the 4th toe
................... HP:0010373 Bullet-shaped 4th toe phalanx
................... HP:0010374 Curved 4th toe phalanx
................... HP:0010375 Osteolytic defects of the phalanges of the 4th toe
................... HP:0010376 Patchy sclerosis of 4th toe phalanx
................... HP:0010377 Symphalangism affecting the phalanges of the 4th toe
................... HP:0010378 Triangular shaped phalanges of the 4th toe
................... HP:0010379 Duplication of phalanx of the 4th toe
................... HP:0010380 Abnormality of the distal phalanx of the 4th toe
................... HP:0010382 Abnormality of the proximal phalanx of the 4th toe
........expandAbnormality of the phalanges of the 5th toe (HP:0010342) help
................... HP:0010383 Aplasia/Hypoplasia of the phalanges of the 5th toe
................... HP:0010384 Broad phalanges of the 5th toe
................... HP:0010385 Bullet-shaped 5th toe phalanx
................... HP:0010386 Curved 5th toe phalanx
................... HP:0010387 Osteolytic defects of the phalanges of the 5th toe
................... HP:0010388 Patchy sclerosis of 5th toe phalanx
................... HP:0010389 Symphalangism affecting the phalanges of the 5th toe
................... HP:0010390 Triangular shaped phalanges of the 5th toe
................... HP:0010391 Duplication of the phalanges of the 5th toe
................... HP:0010393 Abnormality of the middle phalanx of the 5th toe
................... HP:0010394 Abnormality of the proximal phalanx of the 5th toe
........expandClubbing of toes (HP:0100760) help
........expandSclerosis of toe phalanx (HP:0100924) help
................... HP:0010178 Patchy sclerosis of toe phalanx
................... HP:0100926 Sclerosis of 2nd toe phalanx
................... HP:0100927 Sclerosis of 3rd toe phalanx
................... HP:0100928 Sclerosis of 4th toe phalanx
................... HP:0100929 Sclerosis of 5th toe phalanx
................... HP:0100930 Sclerosis of hallux phalanx
................... HP:0100946 Sclerosis of proximal toe phalanx
................... HP:0100947 Sclerosis of middle toe phalanx
................... HP:0100948 Sclerosis of distal toe phalanx

 Sister Nodes: 
..expandAbnormality of the 2nd toe (HP:0010319) help
..expandAbnormality of the 3rd toe (HP:0010320) help
..expandAbnormality of the 4th toe (HP:0010321) help
..expandAbnormality of the 5th toe (HP:0010322) help
..expandAbnormality of the epiphyses of the toes (HP:0010160) help
..expandAbnormality of the hallux (HP:0001844) help
..expandAinhum (HP:0031009) help
..expandAplasia/Hypoplasia of toe (HP:0001991) help
..expandBroad toe (HP:0001837) help
..expandBulbous tips of toes (HP:0001782) help
..expandDeviation of toes (HP:0100498) help
..expandDislocation of toes (HP:0008141) help
..expandFlexion contracture of toe (HP:0005830) help
..expandFoot polydactyly (HP:0001829) help
..expandHammertoe (HP:0001765) help
..expandHypermobility of toe joints (HP:0010510) help
..expandLong toe (HP:0010511) help
..expandMacrodactyly of toe (HP:0100747) help
..expandOverlapping toe (HP:0001845) help
..expandSandal gap (HP:0001852) help
..expandSlender toe (HP:0011308) help
..expandSplayed toes (HP:0011307) help
..expandTapered toe (HP:0011309) help
..expandToe dactylitis (HP:0031091) help
..expandToe syndactyly (HP:0001770) help
..expandWidely spaced toes (HP:0008094) 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:0010161HP:0010161Abnormality of the phalanges of the toes0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0010161HP:0010161Abnormality of the phalanges of the toes0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0010161HP:0010161Abnormality of the phalanges of the toes0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndrome13
HP:0010161HP:0010161Abnormality of the phalanges of the toes0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0010161HP:0010161Abnormality of the phalanges of the toes0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe type90
HP:0010161HP:0010161Abnormality of the phalanges of the toes0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0010161HP:0010161Abnormality of the phalanges of the toes0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0010161HP:0010161Abnormality of the phalanges of the toes0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0010161HP:0010161Abnormality of the phalanges of the toes0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0010161HP:0010161Abnormality of the phalanges of the toes0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0010161Abnormality of the phalanges of the toes0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0010161HP:0010161Abnormality of the phalanges of the toes0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0010161HP:0010161Abnormality of the phalanges of the toes0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0010161HP:0010161Abnormality of the phalanges of the toes0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0010161HP:0010161Abnormality of the phalanges of the toes0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0010161HP:0010161Abnormality of the phalanges of the toes0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0010161HP:0010161Abnormality of the phalanges of the toes0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0010161HP:0010161Abnormality of the phalanges of the toes0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010161HP:0010161Abnormality of the phalanges of the toes0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0010161HP:0010161Abnormality of the phalanges of the toes0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0010161HP:0010161Abnormality of the phalanges of the toes0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0010161HP:0010161Abnormality of the phalanges of the toes0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0010161HP:0010161Abnormality of the phalanges of the toes0EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010161Abnormality of the phalanges of the toes0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome172
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1172
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray type175
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndrome175
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome175
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1175
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2175
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3175
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010161Abnormality of the phalanges of the toes0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0010161HP:0010161Abnormality of the phalanges of the toes0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0010161HP:0010161Abnormality of the phalanges of the toes0GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe type52
HP:0010161HP:0010161Abnormality of the phalanges of the toes0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0010161HP:0010161Abnormality of the phalanges of the toes0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0010161HP:0010161Abnormality of the phalanges of the toes0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0010161HP:0010161Abnormality of the phalanges of the toes0GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0010161HP:0010161Abnormality of the phalanges of the toes0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0010161HP:0010161Abnormality of the phalanges of the toes0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HNRNPH1 CL E G H31875041OMIM:620083
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type E25
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathy55
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010161HP:0010161Abnormality of the phalanges of the toes0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0010161HP:0010161Abnormality of the phalanges of the toes0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0010161HP:0010161Abnormality of the phalanges of the toes0IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0010161Abnormality of the phalanges of the toes0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0010161HP:0010161Abnormality of the phalanges of the toes0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0010161HP:0010161Abnormality of the phalanges of the toes0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0010161HP:0010161Abnormality of the phalanges of the toes0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010161Abnormality of the phalanges of the toes0KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2276
HP:0010161HP:0010161Abnormality of the phalanges of the toes0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0010161HP:0010161Abnormality of the phalanges of the toes0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0010161HP:0010161Abnormality of the phalanges of the toes0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0010161HP:0010161Abnormality of the phalanges of the toes0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0010161HP:0010161Abnormality of the phalanges of the toes0LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome645
HP:0010161HP:0010161Abnormality of the phalanges of the toes0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0010161HP:0010161Abnormality of the phalanges of the toes0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0010161HP:0010161Abnormality of the phalanges of the toes0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0010161HP:0010161Abnormality of the phalanges of the toes0MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010161Abnormality of the phalanges of the toes0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0010161HP:0010161Abnormality of the phalanges of the toes0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0010161HP:0010161Abnormality of the phalanges of the toes0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0010161HP:0010161Abnormality of the phalanges of the toes0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0010161HP:0010161Abnormality of the phalanges of the toes0NOG CL E G H92417866ORPHA:140908Brachydactyly type B222
HP:0010161HP:0010161Abnormality of the phalanges of the toes0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010161HP:0010161Abnormality of the phalanges of the toes0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010161Abnormality of the phalanges of the toes0NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A22
HP:0010161HP:0010161Abnormality of the phalanges of the toes0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0010161HP:0010161Abnormality of the phalanges of the toes0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0010161HP:0010161Abnormality of the phalanges of the toes0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0010161HP:0010161Abnormality of the phalanges of the toes0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010161HP:0010161Abnormality of the phalanges of the toes0PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0010161HP:0010161Abnormality of the phalanges of the toes0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0010161HP:0010161Abnormality of the phalanges of the toes0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0010161HP:0010161Abnormality of the phalanges of the toes0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0010161HP:0010161Abnormality of the phalanges of the toes0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancy948
HP:0010161HP:0010161Abnormality of the phalanges of the toes0PTHLH CL E G H57449607ORPHA:93387Brachydactyly type E6
HP:0010161HP:0010161Abnormality of the phalanges of the toes0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0010161Abnormality of the phalanges of the toes0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0010161HP:0010161Abnormality of the phalanges of the toes0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0010161HP:0010161Abnormality of the phalanges of the toes0RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 254
HP:0010161HP:0010161Abnormality of the phalanges of the toes0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0010161HP:0010161Abnormality of the phalanges of the toes0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0010161HP:0010161Abnormality of the phalanges of the toes0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0010161HP:0010161Abnormality of the phalanges of the toes0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2318
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0010161HP:0010161Abnormality of the phalanges of the toes0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiency80
HP:0010161HP:0010161Abnormality of the phalanges of the toes0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0010161HP:0010161Abnormality of the phalanges of the toes0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0010161HP:0010161Abnormality of the phalanges of the toes0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum type6
HP:0010161HP:0010161Abnormality of the phalanges of the toes0TP63 CL E G H862615979OMIM:605289Split-Hand/foot malformation 4140
HP:0010161HP:0010161Abnormality of the phalanges of the toes0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0010161HP:0010161Abnormality of the phalanges of the toes0TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0010161HP:0010161Abnormality of the phalanges of the toes0TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0010161Abnormality of the phalanges of the toes0TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome18
HP:0010161HP:0010161Abnormality of the phalanges of the toes0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0010161HP:0010161Abnormality of the phalanges of the toes0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0010161HP:0010161Abnormality of the phalanges of the toes0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010161Abnormality of the phalanges of the toes0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0010161HP:0010161Abnormality of the phalanges of the toes0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010161HP:0010161Abnormality of the phalanges of the toes0WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2199
HP:0010161HP:0010161Abnormality of the phalanges of the toes0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0010161HP:0010161Abnormality of the phalanges of the toes0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0010161HP:0010161Abnormality of the phalanges of the toes0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0010161Abnormality of the phalanges of the toes0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0100924Sclerosis of toe phalanx1 CL E G H
HP:0010161HP:0041240Fractured phalanx of pes1 CL E G H
HP:0010161HP:0010057Abnormal hallux phalanx morphology1ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0010161HP:0010174Broad phalanx of the toes1ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0010161HP:0010181Duplication of phalanx of toe1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0010161HP:0010057Abnormal hallux phalanx morphology1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0010161HP:0010057Abnormal hallux phalanx morphology1ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0010342Abnormality of the phalanges of the 5th toe1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0005035Shortening of all phalanges of the toes1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0010161HP:0010174Broad phalanx of the toes1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0010161HP:0010324Abnormal morphology of phalanx of the 2nd toe1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0010161HP:0010057Abnormal hallux phalanx morphology1BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0010161HP:0010179Symphalangism affecting the phalanges of the toes1BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0010161HP:0010174Broad phalanx of the toes1BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndrome13
HP:0010161HP:0010057Abnormal hallux phalanx morphology1BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndrome13
HP:0010161HP:0010174Broad phalanx of the toes1BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe type90
HP:0010161HP:0100760Clubbing of toes1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0010161HP:0100760Clubbing of toes1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0010161HP:0100760Clubbing of toes1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0010161HP:0010181Duplication of phalanx of toe1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0010161HP:0010057Abnormal hallux phalanx morphology1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0010161HP:0010057Abnormal hallux phalanx morphology1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0010181Duplication of phalanx of toe1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0010174Broad phalanx of the toes1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0010161HP:0010174Broad phalanx of the toes1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0010161HP:0010176Curved toe phalanx1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0010161HP:0010176Curved toe phalanx1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0010161HP:0010176Curved toe phalanx1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0010161HP:0010176Curved toe phalanx1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0010161HP:0010181Duplication of phalanx of toe1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010161HP:0010174Broad phalanx of the toes1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010161HP:0010057Abnormal hallux phalanx morphology1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010161HP:0010057Abnormal hallux phalanx morphology1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0010161HP:0010174Broad phalanx of the toes1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0010161HP:0010057Abnormal hallux phalanx morphology1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0010161HP:0010174Broad phalanx of the toes1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0010161HP:0010174Broad phalanx of the toes1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0010161HP:0010174Broad phalanx of the toes1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0010161HP:0010057Abnormal hallux phalanx morphology1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0010161HP:0010330Abnormality of the phalanges of the 3rd toe1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010336Abnormality of the phalanges of the 4th toe1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010057Abnormal hallux phalanx morphology1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010161HP:0010174Broad phalanx of the toes1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010161HP:0010181Duplication of phalanx of toe1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010161HP:0100760Clubbing of toes1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0010161HP:0100760Clubbing of toes1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0010161HP:0100760Clubbing of toes1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0010161HP:0100760Clubbing of toes1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0010161HP:0100760Clubbing of toes1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0010161HP:0100760Clubbing of toes1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0010161HP:0100760Clubbing of toes1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0010161HP:0100760Clubbing of toes1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0010161HP:0100760Clubbing of toes1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0010161HP:0100760Clubbing of toes1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0010161HP:0100760Clubbing of toes1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome172
HP:0010161HP:0010174Broad phalanx of the toes1FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1172
HP:0010161HP:0010057Abnormal hallux phalanx morphology1FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1172
HP:0010161HP:0010057Abnormal hallux phalanx morphology1FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray type175
HP:0010161HP:0010174Broad phalanx of the toes1FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray type175
HP:0010161HP:0010174Broad phalanx of the toes1FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndrome175
HP:0010161HP:0010057Abnormal hallux phalanx morphology1FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndrome175
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome175
HP:0010161HP:0010057Abnormal hallux phalanx morphology1FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1175
HP:0010161HP:0010174Broad phalanx of the toes1FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1175
HP:0010161HP:0010174Broad phalanx of the toes1FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2175
HP:0010161HP:0010057Abnormal hallux phalanx morphology1FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2175
HP:0010161HP:0010057Abnormal hallux phalanx morphology1FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3175
HP:0010161HP:0010174Broad phalanx of the toes1FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3175
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010057Abnormal hallux phalanx morphology1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0005035Shortening of all phalanges of the toes1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010057Abnormal hallux phalanx morphology1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0010161HP:0010174Broad phalanx of the toes1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0010161HP:0010174Broad phalanx of the toes1GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0010161HP:0010057Abnormal hallux phalanx morphology1GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe type52
HP:0010161HP:0010174Broad phalanx of the toes1GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0010161HP:0010174Broad phalanx of the toes1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0010161HP:0010057Abnormal hallux phalanx morphology1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0010161HP:0010057Abnormal hallux phalanx morphology1GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0010161HP:0010174Broad phalanx of the toes1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0010161HP:0010174Broad phalanx of the toes1GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0010161HP:0010057Abnormal hallux phalanx morphology1GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0010161HP:0010174Broad phalanx of the toes1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0010161HP:0010174Broad phalanx of the toes1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0010161HP:0100760Clubbing of toes1HNRNPH1 CL E G H31875041OMIM:620083
HP:0010161HP:0010057Abnormal hallux phalanx morphology1HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type E25
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type E25
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type E25
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0010161HP:0010174Broad phalanx of the toes1HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0010161HP:0010057Abnormal hallux phalanx morphology1HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0010161HP:0100760Clubbing of toes1HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathyHP:0040282 - Frequent55
HP:0010161HP:0100760Clubbing of toes1HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0010161HP:0100760Clubbing of toes1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent55
HP:0010161HP:0010174Broad phalanx of the toes1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010161HP:0010181Duplication of phalanx of toe1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0010161HP:0010057Abnormal hallux phalanx morphology1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0010161HP:0010057Abnormal hallux phalanx morphology1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0010057Abnormal hallux phalanx morphology1IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0010174Broad phalanx of the toes1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0010161HP:0005035Shortening of all phalanges of the toes1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0010161HP:0010057Abnormal hallux phalanx morphology1KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0010161HP:0010174Broad phalanx of the toes1KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010342Abnormality of the phalanges of the 5th toe1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010324Abnormal morphology of phalanx of the 2nd toe1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2276
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0010161HP:0010057Abnormal hallux phalanx morphology1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0010161HP:0010181Duplication of phalanx of toe1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0010161HP:0010181Duplication of phalanx of toe1LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0010161HP:0010057Abnormal hallux phalanx morphology1LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome645
HP:0010161HP:0010330Abnormality of the phalanges of the 3rd toe1LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome645
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0010161HP:0100760Clubbing of toes1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0010161HP:0010330Abnormality of the phalanges of the 3rd toe1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010179Symphalangism affecting the phalanges of the toes1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010184Abnormality of toe proximal phalanx1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010336Abnormality of the phalanges of the 4th toe1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010324Abnormal morphology of phalanx of the 2nd toe1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010180Triangular shaped phalanges of the toes1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010057Abnormal hallux phalanx morphology1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010342Abnormality of the phalanges of the 5th toe1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0010161HP:0010174Broad phalanx of the toes1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0010161HP:0010181Duplication of phalanx of toe1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0010161HP:0010057Abnormal hallux phalanx morphology1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0010161HP:0010174Broad phalanx of the toes1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1NOG CL E G H92417866ORPHA:140908Brachydactyly type B222
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1NOG CL E G H92417866ORPHA:140908Brachydactyly type B222
HP:0010161HP:0005035Shortening of all phalanges of the toes1NOG CL E G H92417866ORPHA:140908Brachydactyly type B222
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010161HP:0010342Abnormality of the phalanges of the 5th toe1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010330Abnormality of the phalanges of the 3rd toe1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010179Symphalangism affecting the phalanges of the toes1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010336Abnormality of the phalanges of the 4th toe1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010180Triangular shaped phalanges of the toes1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A22
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A22
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0010161HP:0010057Abnormal hallux phalanx morphology1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0010161HP:0010174Broad phalanx of the toes1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0010161HP:0100760Clubbing of toes1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010161HP:0005035Shortening of all phalanges of the toes1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040282 - Frequent36
HP:0010161HP:0100760Clubbing of toes1PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040283 - Occasional36
HP:0010161HP:0010174Broad phalanx of the toes1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare2
HP:0010161HP:0010174Broad phalanx of the toes1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0010161HP:0010174Broad phalanx of the toes1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare244
HP:0010161HP:0010174Broad phalanx of the toes1PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1PTHLH CL E G H57449607ORPHA:93387Brachydactyly type E6
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1PTHLH CL E G H57449607ORPHA:93387Brachydactyly type E6
HP:0010161HP:0010057Abnormal hallux phalanx morphology1PTHLH CL E G H57449607ORPHA:93387Brachydactyly type E6
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0010057Abnormal hallux phalanx morphology1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0010181Duplication of phalanx of toe1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0100760Clubbing of toes1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0010161HP:0100760Clubbing of toes1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 254
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0010161HP:0100760Clubbing of toes1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0010161HP:0100760Clubbing of toes1RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040283 - Occasional80
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0010161HP:0010057Abnormal hallux phalanx morphology1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0010161HP:0010174Broad phalanx of the toes1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0010161HP:0010057Abnormal hallux phalanx morphology1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0010161HP:0010174Broad phalanx of the toes1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0010161HP:0010057Abnormal hallux phalanx morphology1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0010161HP:0010174Broad phalanx of the toes1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0010161HP:0010057Abnormal hallux phalanx morphology1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0010161HP:0010174Broad phalanx of the toes1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0010161HP:0010174Broad phalanx of the toes1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare126
HP:0010161HP:0010174Broad phalanx of the toes1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare427
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2318
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0010161HP:0010174Broad phalanx of the toes1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare11
HP:0010161HP:0010174Broad phalanx of the toes1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0010161HP:0100760Clubbing of toes1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent13
HP:0010161HP:0100760Clubbing of toes1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0010161HP:0100760Clubbing of toes1SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0010161HP:0010057Abnormal hallux phalanx morphology1SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0010161HP:0005035Shortening of all phalanges of the toes1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0010161HP:0010057Abnormal hallux phalanx morphology1SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiency80
HP:0010161HP:0010174Broad phalanx of the toes1SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiency80
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0010161HP:0010324Abnormal morphology of phalanx of the 2nd toe1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0010161HP:0010057Abnormal hallux phalanx morphology1TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0010161HP:0010175Bullet-shaped toe phalanx1TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0010161HP:0100760Clubbing of toes1TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040283 - Occasional6
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1TP63 CL E G H862615979OMIM:605289Split-Hand/foot malformation 4140
HP:0010161HP:0010174Broad phalanx of the toes1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare1
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0010161HP:0005035Shortening of all phalanges of the toes1TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0010161HP:0005035Shortening of all phalanges of the toes1TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0010181Duplication of phalanx of toe1TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome18
HP:0010161HP:0010057Abnormal hallux phalanx morphology1TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome18
HP:0010161HP:0100760Clubbing of toes1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0010161HP:0100760Clubbing of toes1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010057Abnormal hallux phalanx morphology1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0005035Shortening of all phalanges of the toes1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010183Abnormality of the middle phalanges of the toes1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010174Broad phalanx of the toes1WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2199
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0010161HP:0010173Aplasia/Hypoplasia of the phalanges of the toes1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0010161HP:0100760Clubbing of toes1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0010177Osteolytic defects of the phalanges of the toes1ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0010182Abnormality of the distal phalanges of the toes1ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0010386Curved 5th toe phalanx2 CL E G H
HP:0010161HP:0010210Triangular shaped proximal phalanges of the toes2 CL E G H
HP:0010161HP:0010368Abnormality of the distal phalanx of the 3rd toe2 CL E G H
HP:0010161HP:0010196Bullet-shaped middle toe phalanx2 CL E G H
HP:0010161HP:0010065Triangular shaped phalanges of the hallux2 CL E G H
HP:0010161HP:0041180Fractured distal phalanx of pedal digit 12 CL E G H
HP:0010161HP:0010352Patchy sclerosis of 2nd toe phalanx2 CL E G H
HP:0010161HP:0010376Patchy sclerosis of 4th toe phalanx2 CL E G H
HP:0010161HP:0010203Aplasia/hypoplasia of proximal toe phalanx2 CL E G H
HP:0010161HP:0100929Sclerosis of 5th toe phalanx2 CL E G H
HP:0010161HP:0010361Bullet-shaped 3rd toe phalanx2 CL E G H
HP:0010161HP:0010209Symphalangism affecting the proximal phalanges of the toes2 CL E G H
HP:0010161HP:0100948Sclerosis of distal toe phalanx2 CL E G H
HP:0010161HP:0010385Bullet-shaped 5th toe phalanx2 CL E G H
HP:0010161HP:0010367Duplication of phalanx of the 3rd toe2 CL E G H
HP:0010161HP:0010195Broad middle phalanges of the toes2 CL E G H
HP:0010161HP:0041175Fractured middle phalanx of pes2 CL E G H
HP:0010161HP:0010394Abnormal morphology of the proximal phalanx of the 5th toe2 CL E G H
HP:0010161HP:0010351Osteolytic defects of the phalanges of the 2nd toe2 CL E G H
HP:0010161HP:0041187Fractured proximal phalanx of pedal digit 12 CL E G H
HP:0010161HP:0010375Osteolytic defects of the phalanges of the 4th toe2 CL E G H
HP:0010161HP:0010201Triangular shaped middle phalanges of the toes2 CL E G H
HP:0010161HP:0100928Sclerosis of 4th toe phalanx2 CL E G H
HP:0010161HP:0010360Broad phalanges of the 3rd toe2 CL E G H
HP:0010161HP:0100947Sclerosis of middle toe phalanx2 CL E G H
HP:0010161HP:0010384Broad phalanges of the 5th toe2 CL E G H
HP:0010161HP:0010365Symphalangism affecting the phalanges of the 3rd toe2 CL E G H
HP:0010161HP:0010192Triangular shaped distal phalanges of the toes2 CL E G H
HP:0010161HP:0010063Patchy sclerosis of hallux phalanx2 CL E G H
HP:0010161HP:0011928Short proximal phalanx of toe2 CL E G H
HP:0010161HP:0010391Duplication of the phalanges of the 5th toe2 CL E G H
HP:0010161HP:0010350Curved 2nd toe phalanx2 CL E G H
HP:0010161HP:0010374Curved 4th toe phalanx2 CL E G H
HP:0010161HP:0010200Symphalangism affecting the middle phalanges of the toes2 CL E G H
HP:0010161HP:0100927Sclerosis of 3rd toe phalanx2 CL E G H
HP:0010161HP:0010357Abnormality of the middle phalanx of the 2nd toe2 CL E G H
HP:0010161HP:0100946Sclerosis of proximal toe phalanx2 CL E G H
HP:0010161HP:0010382Abnormal morphology of the proximal phalanx of the 4th toe2 CL E G H
HP:0010161HP:0010207Osteolytic defect of the proximal toe phalanx2 CL E G H
HP:0010161HP:0010191Symphalangism affecting the distal phalanges of the toes2 CL E G H
HP:0010161HP:0010062Osteolytic defects of the phalanges of the hallux2 CL E G H
HP:0010161HP:0010349Bullet-shaped 2nd toe phalanx2 CL E G H
HP:0010161HP:0010373Bullet-shaped 4th toe phalanx2 CL E G H
HP:0010161HP:0100926Sclerosis of 2nd toe phalanx2 CL E G H
HP:0010161HP:0010355Duplication of the phalanges of the 2nd toe2 CL E G H
HP:0010161HP:0010380Abnormality of the distal phalanx of the 4th toe2 CL E G H
HP:0010161HP:0010206Curved proximal toe phalanx2 CL E G H
HP:0010161HP:0010364Patchy sclerosis of 3rd toe phalanx2 CL E G H
HP:0010161HP:0010061Curved hallux phalanx2 CL E G H
HP:0010161HP:0010388Patchy sclerosis of 5th toe phalanx2 CL E G H
HP:0010161HP:0010348Broad phalanges of the 2nd toe2 CL E G H
HP:0010161HP:0041181Fractured distal phalanx of pedal digit 32 CL E G H
HP:0010161HP:0010372Broad phalanges of the 4th toe2 CL E G H
HP:0010161HP:0010198Osteolytic defects of the middle phalanges of the toes2 CL E G H
HP:0010161HP:0010354Triangular shaped phalanges of the 2nd toe2 CL E G H
HP:0010161HP:0010379Duplication of phalanx of the 4th toe2 CL E G H
HP:0010161HP:0010205Bullet-shaped proximal toe phalanx2 CL E G H
HP:0010161HP:0010188Curved distal toe phalanx2 CL E G H
HP:0010161HP:0001859Distal foot symphalangism2 CL E G H
HP:0010161HP:0010363Osteolytic defects of the phalanges of the 3rd toe2 CL E G H
HP:0010161HP:0010387Osteolytic defects of the phalanges of the 5th toe2 CL E G H
HP:0010161HP:0010211Duplication of proximal phalanx of toe2 CL E G H
HP:0010161HP:0010370Abnormal morphology of the proximal phalanx of the 3rd toe2 CL E G H
HP:0010161HP:0010197Curved middle toe phalanx2 CL E G H
HP:0010161HP:0010204Broad proximal phalanx of toe2 CL E G H
HP:0010161HP:0010178Patchy sclerosis of toe phalanx2 CL E G H
HP:0010161HP:0100930Sclerosis of hallux phalanx2 CL E G H
HP:0010161HP:0010362Curved 3rd toe phalanx2 CL E G H
HP:0010161HP:0010059Broad hallux phalanx2ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0010161HP:0010066Duplication of phalanx of hallux2ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1HP:0040283 - Occasional72
HP:0010161HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux2ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040282 - Frequent49
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0010161HP:0010746Hypoplasia of the phalanges of the toes2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0010383Aplasia/Hypoplasia of the phalanges of the 5th toe2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0010392Abnormality of the distal phalanx of the 5th toe2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0010161HP:0001857Short distal phalanx of toe2ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040282 - Frequent
HP:0010161HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe2ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0010161HP:0010064Symphalangism affecting the phalanges of the hallux2BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0010161HP:0010059Broad hallux phalanx2BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0010161HP:0010745Aplasia of the phalanges of the toes2BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe type90
HP:0010161HP:0010066Duplication of phalanx of hallux2C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0010161HP:0010053Abnormality of the distal phalanx of the hallux2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0010193Duplication of distal phalanx of toe2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0010066Duplication of phalanx of hallux2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0001842Foot acroosteolysis2COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0010161HP:0010059Broad hallux phalanx2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010161HP:0010066Duplication of phalanx of hallux2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010161HP:0010059Broad hallux phalanx2CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0010161HP:0010059Broad hallux phalanx2DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0010161HP:0010059Broad hallux phalanx2EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0010161HP:0010745Aplasia of the phalanges of the toes2EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010381Abnormality of the middle phalanx of the 4th toe2EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010359Aplasia/Hypoplasia of the phalanges of the 3rd toe2EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes2EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010371Aplasia/Hypoplasia of the phalanges of the 4th toe2EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010369Abnormality of the middle phalanx of the 3rd toe2EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010066Duplication of phalanx of hallux2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010161HP:0010059Broad hallux phalanx2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010161HP:0003795Short middle phalanx of toe2FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0010161HP:0010059Broad hallux phalanx2FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent172
HP:0010161HP:0010059Broad hallux phalanx2FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray typeHP:0040283 - Occasional175
HP:0010161HP:0010059Broad hallux phalanx2FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040281 - Very frequent175
HP:0010161HP:0003795Short middle phalanx of toe2FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0010161HP:0010059Broad hallux phalanx2FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent175
HP:0010161HP:0010059Broad hallux phalanx2FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040281 - Very frequent175
HP:0010161HP:0010059Broad hallux phalanx2FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040281 - Very frequent175
HP:0010161HP:0003795Short middle phalanx of toe2FGFR3 CL E G H22613690OMIM:602849Muenke syndrome.145
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010052Abnormal morphology of the proximal phalanx of the hallux2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010053Abnormality of the distal phalanx of the hallux2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0001857Short distal phalanx of toe2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010746Hypoplasia of the phalanges of the toes2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010745Aplasia of the phalanges of the toes2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010059Broad hallux phalanx2FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0010161HP:0010059Broad hallux phalanx2GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040283 - Occasional87
HP:0010161HP:0010745Aplasia of the phalanges of the toes2GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe type52
HP:0010161HP:0010059Broad hallux phalanx2GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndromeHP:0040282 - Frequent270
HP:0010161HP:0010059Broad hallux phalanx2GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0010161HP:0010059Broad hallux phalanx2GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0010161HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux2HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type E25
HP:0010161HP:0010053Abnormality of the distal phalanx of the hallux2HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type E25
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type E25
HP:0010161HP:0010186Broad distal phalanx of the toes2HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0010161HP:0010053Abnormality of the distal phalanx of the hallux2HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0010161HP:0010059Broad hallux phalanx2HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0010161HP:0003795Short middle phalanx of toe2HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0010161HP:0010186Broad distal phalanx of the toes2HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010161HP:0010066Duplication of phalanx of hallux2HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0010161HP:0032612Triphalangeal hallux2IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0010161HP:0010746Hypoplasia of the phalanges of the toes2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0010052Abnormal morphology of the proximal phalanx of the hallux2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0001857Short distal phalanx of toe2KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0010161HP:0010059Broad hallux phalanx2KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0010161HP:0010356Abnormality of the distal phalanx of the 2nd toe2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010392Abnormality of the distal phalanx of the 5th toe2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010745Aplasia of the phalanges of the toes2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010383Aplasia/Hypoplasia of the phalanges of the 5th toe2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0001842Foot acroosteolysis2KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent276
HP:0010161HP:0001842Foot acroosteolysis2KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0010161HP:0010066Duplication of phalanx of hallux2KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0010161HP:0010066Duplication of phalanx of hallux2LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial IIHP:0040282 - Frequent106
HP:0010161HP:0001842Foot acroosteolysis2LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0010161HP:0010189Osteolytic defects of the distal phalanges of the toes2LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0010161HP:0010745Aplasia of the phalanges of the toes2LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome645
HP:0010161HP:0010359Aplasia/Hypoplasia of the phalanges of the 3rd toe2LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome645
HP:0010161HP:0001842Foot acroosteolysis2LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0010161HP:0010189Osteolytic defects of the distal phalanges of the toes2LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0010161HP:0001842Foot acroosteolysis2LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0010161HP:0010189Osteolytic defects of the distal phalanges of the toes2LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010353Second toe symphalangism2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010359Aplasia/Hypoplasia of the phalanges of the 3rd toe2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010378Triangular shaped phalanges of the 4th toe2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010383Aplasia/Hypoplasia of the phalanges of the 5th toe2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010371Aplasia/Hypoplasia of the phalanges of the 4th toe2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010358Abnormal morphology of the proximal phalanx of the 2nd toe2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010356Abnormality of the distal phalanx of the 2nd toe2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010053Abnormality of the distal phalanx of the hallux2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010186Broad distal phalanx of the toes2MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0010161HP:0010189Osteolytic defects of the distal phalanges of the toes2MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0010161HP:0001842Foot acroosteolysis2MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0010161HP:0010066Duplication of phalanx of hallux2NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2NOG CL E G H92417866ORPHA:140908Brachydactyly type B222
HP:0010161HP:0001857Short distal phalanx of toe2NOG CL E G H92417866ORPHA:140908Brachydactyly type B2HP:0040281 - Very frequent22
HP:0010161HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes2NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010161HP:0010366Triangular shaped phalanges of the 3rd toe2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010390Triangular shaped phalanges of the 5th toe2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010746Hypoplasia of the phalanges of the toes2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010389Symphalangism affecting the phalanges of the 5th toe2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010377Symphalangism affecting the phalanges of the 4th toe2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010383Aplasia/Hypoplasia of the phalanges of the 5th toe2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010393Abnormality of the middle phalanx of the 5th toe2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100237Proximal foot symphalangism2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes2NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1AHP:0040283 - Occasional22
HP:0010161HP:0001842Foot acroosteolysis2NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0010161HP:0010059Broad hallux phalanx2NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0010161HP:0001857Short distal phalanx of toe2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2PTHLH CL E G H57449607ORPHA:93387Brachydactyly type E6
HP:0010161HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux2PTHLH CL E G H57449607ORPHA:93387Brachydactyly type E6
HP:0010161HP:0010053Abnormality of the distal phalanx of the hallux2PTHLH CL E G H57449607ORPHA:93387Brachydactyly type E6
HP:0010161HP:0010052Abnormal morphology of the proximal phalanx of the hallux2RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0010202Duplication of middle phalanx of toe2RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes2RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0010066Duplication of phalanx of hallux2RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0001842Foot acroosteolysis2RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent54
HP:0010161HP:0001842Foot acroosteolysis2RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0010161HP:0010059Broad hallux phalanx2ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0010161HP:0010059Broad hallux phalanx2SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0010161HP:0010059Broad hallux phalanx2SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0010161HP:0010059Broad hallux phalanx2SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0010161HP:0001842Foot acroosteolysis2SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent318
HP:0010161HP:0001842Foot acroosteolysis2SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0010161HP:0032612Triphalangeal hallux2SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0010161HP:0010059Broad hallux phalanx2SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040282 - Frequent80
HP:0010161HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe2TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0010161HP:0010053Abnormality of the distal phalanx of the hallux2TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0010161HP:0010060Bullet-shaped hallux phalanx2TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0010161HP:0010187Bullet-shaped distal toe phalanx2TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0010161HP:0001857Short distal phalanx of toe2TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial.214
HP:0010161HP:0003795Short middle phalanx of toe2TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial.214
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0010161HP:0003795Short middle phalanx of toe2TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0001857Short distal phalanx of toe2TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0010066Duplication of phalanx of hallux2TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome.18
HP:0010161HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010052Abnormal morphology of the proximal phalanx of the hallux2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010053Abnormality of the distal phalanx of the hallux2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010746Hypoplasia of the phalanges of the toes2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010745Aplasia of the phalanges of the toes2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0001857Short distal phalanx of toe2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010746Hypoplasia of the phalanges of the toes2WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010161HP:0001842Foot acroosteolysis2WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent199
HP:0010161HP:0001842Foot acroosteolysis2WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0010161HP:0010189Osteolytic defects of the distal phalanges of the toes2ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0010189Osteolytic defects of the distal phalanges of the toes2ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0001842Foot acroosteolysis2ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0001842Foot acroosteolysis2ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophy83
HP:0010161HP:0100460Osteolytic defects of the distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010087Bullet-shaped proximal phalanx of the hallux3 CL E G H
HP:0010161HP:0100446Curved proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100376Aplasia/hypoplasia of the proximal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0200113Aphalangy of hands and feet3 CL E G H
HP:0010161HP:0010408Osteolytic defects of the middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100936Sclerosis of the middle phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100470Symphalangism affecting the middle phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100433Broad distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100401Duplication of the middle phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010395Aplasia/hypoplasia of the proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100489Proximal/middle symphalangism of 2nd toe3 CL E G H
HP:0010161HP:0010092Triangular shaped proximal phalanx of the hallux3 CL E G H
HP:0010161HP:0100439Bullet-shaped proximal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0041187Fractured proximal phalanx of pedal digit 13 CL E G H
HP:0010161HP:0010414Broad distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100942Sclerosis of the distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100478Symphalangism affecting the distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100453Osteolytic defects of the middle phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010080Osteolytic defects of the distal phalanx of the hallux3 CL E G H
HP:0010161HP:0100426Broad middle phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100485Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal3 CL E G H
HP:0010161HP:0100459Osteolytic defects of the distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010086Broad proximal phalanx of the hallux3 CL E G H
HP:0010161HP:0100445Curved middle phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100375Aplasia/hypoplasia of the proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010419Symphalangism affecting the distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0010407Curved middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100935Sclerosis of the middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0010063Patchy sclerosis of hallux phalanx3 CL E G H
HP:0010161HP:0100432Broad distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100400Duplication of the distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100463Patchy sclerosis of the middle phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010091Symphalangism affecting the proximal phalanx of the hallux3 CL E G H
HP:0010161HP:0100406Duplication of the proximal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010412Duplication of the middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100941Sclerosis of the distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100452Osteolytic defects of the middle phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010079Curved distal phalanx of the hallux3 CL E G H
HP:0010161HP:0100438Bullet-shaped proximal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100425Broad middle phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010431Short phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0010400Patchy sclerosis of the proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100466Patchy sclerosis of the proximal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010208Patchy sclerosis of proximal toe phalanx3 CL E G H
HP:0010161HP:0100458Osteolytic defects of the distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010083Triangular shaped distal phalanx of the hallux3 CL E G H
HP:0010161HP:0100444Curved middle phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100370Aplasia/Hypoplasia of the distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100934Sclerosis of the proximal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100469Patchy sclerosis of the distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100431Broad distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100399Duplication of the distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010406Bullet-shaped middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100488Synostosis of the proximal phalanx of the hallux with the 1st metatarsal3 CL E G H
HP:0010161HP:0100405Duplication of the proximal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0041186Fractured middle phalanx of pedal digit 33 CL E G H
HP:0010161HP:0010411Triangular shaped middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100940Sclerosis of the distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100477Symphalangism affecting the distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100451Curved distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010074Triangular shaped 1st metatarsal3 CL E G H
HP:0010161HP:0100437Bullet-shaped proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010429Complete duplication of the phalanges of the 2nd toe3 CL E G H
HP:0010161HP:0010399Osteolytic defects of the proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100457Osteolytic defects of the proximal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100443Curved middle phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100369Aplasia/Hypoplasia of the distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010418Patchy sclerosis of the distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100484Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal3 CL E G H
HP:0010161HP:0100933Sclerosis of the proximal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010364Patchy sclerosis of 3rd toe phalanx3 CL E G H
HP:0010161HP:0100430Broad proximal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100398Duplication of the distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010405Broad middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0010388Patchy sclerosis of 5th toe phalanx3 CL E G H
HP:0010161HP:0100487Triangular shaped distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100462Patchy sclerosis of the middle phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010090Patchy sclerosis of the proximal phalanx of the hallux3 CL E G H
HP:0010161HP:0041181Fractured distal phalanx of pedal digit 33 CL E G H
HP:0010161HP:0010410Symphalangism affecting the middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100939Sclerosis of the distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0010199Patchy sclerosis of middle toe phalanx3 CL E G H
HP:0010161HP:0100450Curved distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100436Bullet-shaped middle phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100404Duplication of the proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010428Partial duplication of phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0010398Curved proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100465Patchy sclerosis of the proximal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100456Osteolytic defects of the proximal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010082Symphalangism affecting the distal phalanx of the hallux3 CL E G H
HP:0010161HP:0100442Bullet-shaped distal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100367Short phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010417Osteolytic defects of the distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100945Sclerosis of the 1st metatarsal3 CL E G H
HP:0010161HP:0100468Patchy sclerosis of the distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010190Patchy sclerosis of distal toe phalanx3 CL E G H
HP:0010161HP:0100429Broad proximal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010404Aplasia/Hypoplasia of the middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100932Sclerosis of the proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010089Osteolytic defects of the proximal phalanx of the hallux3 CL E G H
HP:0010161HP:0010421Duplication of the distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100938Sclerosis of the middle phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100476Symphalangism affecting the distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100449Curved distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010072Patchy sclerosis of the 1st metatarsal3 CL E G H
HP:0010161HP:0100435Bullet-shaped middle phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100403Duplication of the middle phalanx of the 5th toe3 CL E G H
HP:0010161HP:0100388Aplasia of the proximal phalanges of the toes3 CL E G H
HP:0010161HP:0010397Bullet-shaped proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100441Bullet-shaped distal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100366Short phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010416Curved distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100944Sclerosis of the distal phalanx of the hallux3 CL E G H
HP:0010161HP:0100480Proximal/middle symphalangism of 3rd toe3 CL E G H
HP:0010161HP:0100455Osteolytic defects of the proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100428Broad proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010403Duplication of the proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100931Sclerosis of the proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100486Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal3 CL E G H
HP:0010161HP:0100461Patchy sclerosis of the middle phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010088Curved proximal phalanx of the hallux3 CL E G H
HP:0010161HP:0100447Curved proximal phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100377Aplasia/hypoplasia of the proximal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010420Triangular shaped distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0041180Fractured distal phalanx of pedal digit 13 CL E G H
HP:0010161HP:0010409Patchy sclerosis of the middle phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100937Sclerosis of the middle phalanx of the 4th toe3 CL E G H
HP:0010161HP:0100473Symphalangism affecting the proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100448Curved proximal phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010071Osteolytic defects of the 1st metatarsal3 CL E G H
HP:0010161HP:0100434Bullet-shaped middle phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100402Duplication of the middle phalanx of the 4th toe3 CL E G H
HP:0010161HP:0010396Broad proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0010352Patchy sclerosis of 2nd toe phalanx3 CL E G H
HP:0010161HP:0100464Patchy sclerosis of the proximal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100440Bullet-shaped distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0010415Bullet-shaped distal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100943Sclerosis of the proximal phalanx of the hallux3 CL E G H
HP:0010161HP:0010376Patchy sclerosis of 4th toe phalanx3 CL E G H
HP:0010161HP:0100454Osteolytic defects of the middle phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010081Patchy sclerosis of the distal phalanx of the hallux3 CL E G H
HP:0010161HP:0100427Broad middle phalanx of the 5th toe3 CL E G H
HP:0010161HP:0010402Triangular shaped proximal phalanx of the 2nd toe3 CL E G H
HP:0010161HP:0100467Patchy sclerosis of the distal phalanx of the 3rd toe3 CL E G H
HP:0010161HP:0100371Aplasia/Hypoplasia of the distal phalanx of the 5th toe3ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0100368Short phalanx of the 5th toe3ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010161HP:0001857Short distal phalanx of toe3ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040282 - Frequent
HP:0010161HP:0100387Aplasia of the middle phalanges of the toes3BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent90
HP:0010161HP:0010101Partial duplication of the phalanges of the hallux3CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0010084Duplication of the distal phalanx of the hallux3CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010161HP:0100372Aplasia/Hypoplasia of the middle phalanx of the 3rd toe3EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0100362Aplasia of the phalanges of the 3rd toe3EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0100373Aplasia/Hypoplasia of the middle phalanx of the 4th toe3EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0100387Aplasia of the middle phalanges of the toes3EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0100363Aplasia of the phalanges of the 4th toe3EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0010645Aplasia of the distal phalanges of the toes3EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0001857Short distal phalanx of toe3FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010645Aplasia of the distal phalanges of the toes3FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0005793Shortening of all distal phalanges of the toes3FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0010161HP:0010111Short phalanx of hallux3FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010085Aplasia/Hypoplasia of the proximal phalanx of the hallux3FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010076Aplasia/Hypoplasia of the distal phalanx of the hallux3FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0010110Aplasia of the phalanges of the hallux3FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010161HP:0100387Aplasia of the middle phalanges of the toes3GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent52
HP:0010161HP:0010076Aplasia/Hypoplasia of the distal phalanx of the hallux3HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type EHP:0040283 - Occasional25
HP:0010161HP:0010077Broad distal phalanx of the hallux3HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D.25
HP:0010161HP:00080832nd-5th toe middle phalangeal hypoplasia3HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0010161HP:0010111Short phalanx of hallux3IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0010085Aplasia/Hypoplasia of the proximal phalanx of the hallux3IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0001857Short distal phalanx of toe3KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0010161HP:0010430Aplasia of the phalanges of the 2nd toe3KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0100364Aplasia of the phalanges of the 5th toe3KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010413Aplasia/Hypoplasia of the distal phalanx of the 2nd toe3KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010645Aplasia of the distal phalanges of the toes3KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0100371Aplasia/Hypoplasia of the distal phalanx of the 5th toe3KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0001870Acroosteolysis of distal phalanges (feet)3LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040282 - Frequent645
HP:0010161HP:0100362Aplasia of the phalanges of the 3rd toe3LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeHP:0040281 - Very frequent645
HP:0010161HP:0001870Acroosteolysis of distal phalanges (feet)3LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0010161HP:0001870Acroosteolysis of distal phalanges (feet)3LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent645
HP:0010161HP:0010413Aplasia/Hypoplasia of the distal phalanx of the 2nd toe3MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010401Symphalangism affecting the proximal phalanx of the 2nd toe3MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0100483Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal3MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0010076Aplasia/Hypoplasia of the distal phalanx of the hallux3MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0001870Acroosteolysis of distal phalanges (feet)3MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent
HP:0010161HP:0010100Complete duplication of hallux phalanx3NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0010161HP:0001857Short distal phalanx of toe3NOG CL E G H92417866ORPHA:140908Brachydactyly type B2HP:0040281 - Very frequent22
HP:0010161HP:0100481Proximal/middle symphalangism of 4th toe3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100374Aplasia/Hypoplasia of the middle phalanx of the 5th toe3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100474Symphalangism affecting the proximal phalanx of the 4th toe3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100475Symphalangism affecting the proximal phalanx of the 5th toe3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100482Proximal/middle symphalangism of 5th toe3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100472Symphalangism affecting the middle phalanx of the 5th toe3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100471Symphalangism affecting the middle phalanx of the 4th toe3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100368Short phalanx of the 5th toe3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0001857Short distal phalanx of toe3PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010161HP:0010076Aplasia/Hypoplasia of the distal phalanx of the hallux3PTHLH CL E G H57449607ORPHA:93387Brachydactyly type EHP:0040283 - Occasional6
HP:0010161HP:0010093Duplication of the proximal phalanx of the hallux3RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010161HP:0010078Bullet-shaped distal phalanx of the hallux3TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0010161HP:0001857Short distal phalanx of toe3TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial.214
HP:0010161HP:0005793Shortening of all distal phalanges of the toes3TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactylyHP:0040281 - Very frequent214
HP:0010161HP:0001857Short distal phalanx of toe3TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactyly214
HP:0010161HP:0006239Shortening of all middle phalanges of the toes3TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactylyHP:0040281 - Very frequent214
HP:0010161HP:0010076Aplasia/Hypoplasia of the distal phalanx of the hallux3VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010110Aplasia of the phalanges of the hallux3VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010111Short phalanx of hallux3VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010645Aplasia of the distal phalanges of the toes3VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0005793Shortening of all distal phalanges of the toes3VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0010161HP:0001857Short distal phalanx of toe3VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0010085Aplasia/Hypoplasia of the proximal phalanx of the hallux3VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010161HP:0001870Acroosteolysis of distal phalanges (feet)3ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0010161HP:0001870Acroosteolysis of distal phalanges (feet)3ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040281 - Very frequent83
HP:0010161HP:0100485Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal4 CL E G H
HP:0010161HP:0100414Complete duplication of the proximal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0010419Symphalangism affecting the distal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100385Aplasia of the proximal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0010425Partial duplication of the distal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100463Patchy sclerosis of the middle phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100420Partial duplication of the middle phalanx of the 4th toe4 CL E G H
HP:0010161HP:0100407Complete duplication of the distal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0100393Short middle phalanx of the 4th toe4 CL E G H
HP:0010161HP:0010433Short distal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0010400Patchy sclerosis of the proximal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100466Patchy sclerosis of the proximal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0010106Aplasia of the proximal phalanx of the hallux4 CL E G H
HP:0010161HP:0100413Complete duplication of the proximal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0100469Patchy sclerosis of the distal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100384Absent proximal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0010424Complete duplication of the distal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100488Synostosis of the proximal phalanx of the hallux with the 1st metatarsal4 CL E G H
HP:0010161HP:0100419Partial duplication of the middle phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0100477Symphalangism affecting the distal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0100392Short middle phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0010103Short distal phalanx of hallux4 CL E G H
HP:0010161HP:0100412Complete duplication of the middle phalanx of the 5th toe4 CL E G H
HP:0010161HP:0010418Patchy sclerosis of the distal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100484Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal4 CL E G H
HP:0010161HP:0010423Partial duplication of the proximal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100462Patchy sclerosis of the middle phalanx of the 4th toe4 CL E G H
HP:0010161HP:0010090Patchy sclerosis of the proximal phalanx of the hallux4 CL E G H
HP:0010161HP:0100418Partial duplication of the distal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100383Aplasia of the middle phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100424Partial duplication of the proximal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100390Short distal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0100465Patchy sclerosis of the proximal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0010099Partial duplication of the 1st metatarsal4 CL E G H
HP:0010161HP:0010082Symphalangism affecting the distal phalanx of the hallux4 CL E G H
HP:0010161HP:0100411Complete duplication of the middle phalanx of the 4th toe4 CL E G H
HP:0010161HP:0100468Patchy sclerosis of the distal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0010437Short proximal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0010422Complete duplication of the proximal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100417Partial duplication of the distal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0100379Aplasia of the distal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0100476Symphalangism affecting the distal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0010072Patchy sclerosis of the 1st metatarsal4 CL E G H
HP:0010161HP:0100423Partial duplication of the proximal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0100389Short distal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0010096Complete duplication of the distal phalanx of the hallux4 CL E G H
HP:0010161HP:0100410Complete duplication of the middle phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0100480Proximal/middle symphalangism of 3rd toe4 CL E G H
HP:0010161HP:0100397Short proximal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0010436Aplasia of the proximal phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100486Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal4 CL E G H
HP:0010161HP:0100461Patchy sclerosis of the middle phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0100416Partial duplication of the distal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0100378Absent distal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0010409Patchy sclerosis of the middle phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100422Partial duplication of the proximal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0010427Partial duplication of the middle phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100464Patchy sclerosis of the proximal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0010095Partial duplication of the proximal phalanx of the hallux4 CL E G H
HP:0010161HP:0010081Patchy sclerosis of the distal phalanx of the hallux4 CL E G H
HP:0010161HP:0100409Complete duplication of the distal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100467Patchy sclerosis of the distal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0100396Short proximal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0010435Short middle phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100415Complete duplication of the proximal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100386Aplasia of the proximal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0010426Complete duplication of the middle phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100489Proximal/middle symphalangism of 2nd toe4 CL E G H
HP:0010161HP:0010094Complete duplication of the proximal phalanx of the hallux4 CL E G H
HP:0010161HP:0100421Partial duplication of the middle phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100408Complete duplication of the distal phalanx of the 4th toe4 CL E G H
HP:0010161HP:0100478Symphalangism affecting the distal phalanx of the 5th toe4 CL E G H
HP:0010161HP:0100395Short proximal phalanx of the 3rd toe4 CL E G H
HP:0010161HP:0010434Aplasia of the middle phalanx of the 2nd toe4 CL E G H
HP:0010161HP:0100391Short distal phalanx of the 5th toe4ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0010161HP:0010097Partial duplication of the distal phalanx of the hallux4CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0010161HP:0100382Aplasia of the middle phalanx of the 4th toe4EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0100381Absent middle phalanx of the 3rd toe4EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010161HP:0005793Shortening of all distal phalanges of the toes4FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0010161HP:0010107Short proximal phalanx of hallux4FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040281 - Very frequent111
HP:0010161HP:0010102Aplasia of the distal phalanx of the hallux4FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040281 - Very frequent111
HP:0010161HP:0010107Short proximal phalanx of hallux4IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010161HP:0100380Aplasia of the distal phalanx of the 5th toe4KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0010432Absent distal phalanx of the 2nd toe4KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010161HP:0100483Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal4MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010161HP:0100482Proximal/middle symphalangism of 5th toe4NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100394Short middle phalanx of the 5th toe4NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0100481Proximal/middle symphalangism of 4th toe4NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0010161HP:0005793Shortening of all distal phalanges of the toes4TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactylyHP:0040281 - Very frequent214
HP:0010161HP:0010107Short proximal phalanx of hallux4VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040281 - Very frequent6
HP:0010161HP:0005793Shortening of all distal phalanges of the toes4VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0010161HP:0010102Aplasia of the distal phalanx of the hallux4VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040281 - Very frequent6


Genes (123) :ABCC9 ACTB ACVR1 ARID1B ARSL ARX ATP6V1B2 BHLHA9 BMP2 BMPR1A BMPR1B BRCA1 BRCA2 BRIP1 C2CD3 CANT1 CASK CDKL5 COL12A1 COL3A1 COL6A1 COL6A2 COL6A3 CREBBP CTCF DACT1 DMXL2 EFNB1 EOGT EP300 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR1 FGFR2 FGFR3 FIG4 FLI1 GATA4 GDF5 GLI3 GNAO1 GPC4 GRIN1 GRM7 HNRNPH1 HOXD13 HPGD HS2ST1 HYLS1 IFT122 IHH KCNA1 KCNH1 KCNJ8 KCNN3 KIF1A KIF7 LMBR1 LMNA MAD2L2 MAP3K20 MED25 MTX2 NEK1 NEUROD2 NOG NOTCH2 NXN PALB2 PIGF PIGL PIGP PIGQ PNKP PTEN PTHLH RAB23 RAD51 RAD51C RETREG1 RFWD3 RHBDF2 RIPK4 ROR2 SALL1 SALL4 SATB2 SCN1B SCN2A SCN9A SIK1 SLC25A22 SLCO2A1 SLX4 SMARCA2 SMO SOX9 SUMF1 TBC1D24 TBR1 TLL1 TP63 TRIM8 TRPV4 TWIST1 UBE2A UBE2T VAC14 WDR19 WLS WNK1 WNT7A XRCC2 ZMPSTE24

Diseases (88) :ORPHA:1517 OMIM:243310 ORPHA:337 OMIM:135900 ORPHA:79345 ORPHA:1934 ORPHA:79500 OMIM:609432 ORPHA:261295 ORPHA:79076 ORPHA:2098 ORPHA:84 ORPHA:434179 OMIM:251450 ORPHA:610 OMIM:130050 OMIM:180849 ORPHA:363611 ORPHA:857 ORPHA:1520 OMIM:615297 OMIM:101600 ORPHA:93258 ORPHA:168624 ORPHA:1540 ORPHA:93259 ORPHA:93260 OMIM:602849 ORPHA:3472 ORPHA:2308 ORPHA:251071 ORPHA:380 OMIM:175700 ORPHA:2662 OMIM:620083 ORPHA:93387 OMIM:113200 OMIM:186000 ORPHA:1525 ORPHA:217059 ORPHA:2796 OMIM:619194 OMIM:236680 OMIM:218330 OMIM:112500 OMIM:135500 OMIM:618658 ORPHA:970 OMIM:201300 OMIM:200990 OMIM:174500 ORPHA:280365 ORPHA:2229 OMIM:248370 ORPHA:90153 ORPHA:488232 ORPHA:464738 ORPHA:2751 ORPHA:140908 OMIM:611377 OMIM:186500 OMIM:185800 OMIM:102500 ORPHA:1507 OMIM:619356 ORPHA:3474 OMIM:201000 ORPHA:2198 ORPHA:1234 OMIM:113000 ORPHA:959 ORPHA:251019 ORPHA:3051 OMIM:601707 OMIM:114290 ORPHA:585 ORPHA:1617 ORPHA:99106 OMIM:605289 OMIM:606835 ORPHA:85169 OMIM:180750 ORPHA:163956 OMIM:614378 OMIM:619648 OMIM:276820 ORPHA:90154 OMIM:608612
 

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