Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the phalanges of the toes (HP:0010161)help
Parent Node:
expandAbnormal hallux phalanx morphology (HP:0010057)help
Parent Node:
expandDuplication of phalanx of toe (HP:0010181)help
..Starting node
..expandDuplication of phalanx of hallux (HP:0010066)help
Term ID: 10066
Name: Duplication of phalanx of hallux
Synonym: Duplicated hallux; Duplication of big toe bone; Duplication of great toes; Duplication of phalanx of big toe; Hallucal duplication; Partial/complete duplication of the phalanges of the hallux
Definition: Partial or complete duplication of one or more phalanx of big toe.
Comments:
Reference: HP:0010066
Genes and Diseases:
 
       Child Nodes:
........expandDuplication of the distal phalanx of the hallux (HP:0010084) help
................... HP:0010096 Complete duplication of the distal phalanx of the hallux
................... HP:0010097 Partial duplication of the distal phalanx of the hallux
........expandDuplication of the proximal phalanx of the hallux (HP:0010093) help
................... HP:0010094 Complete duplication of the proximal phalanx of the hallux
................... HP:0010095 Partial duplication of the proximal phalanx of the hallux
........expandComplete duplication of hallux phalanx (HP:0010100) help
................... HP:0010094 Complete duplication of the proximal phalanx of the hallux
................... HP:0010096 Complete duplication of the distal phalanx of the hallux
........expandPartial duplication of the phalanges of the hallux (HP:0010101) help
................... HP:0010095 Partial duplication of the proximal phalanx of the hallux
................... HP:0010097 Partial duplication of the distal phalanx of the hallux
................... HP:0010099 Partial duplication of the 1st metatarsal

 Sister Nodes: 
..expandDuplication of phalanx of the 3rd toe (HP:0010367) help
..expandDuplication of phalanx of the 4th toe (HP:0010379) help
..expandDuplication of the phalanges of the 2nd toe (HP:0010355) help
..expandDuplication of the phalanges of the 5th toe (HP:0010391) 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:0010066HP:0010066Duplication of phalanx of hallux0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1HP:0040283 - Occasional72
HP:0010066HP:0010066Duplication of phalanx of hallux0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0010066HP:0010066Duplication of phalanx of hallux0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010066HP:0010066Duplication of phalanx of hallux0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010066HP:0010066Duplication of phalanx of hallux0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010066HP:0010066Duplication of phalanx of hallux0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0010066HP:0010066Duplication of phalanx of hallux0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0010066HP:0010066Duplication of phalanx of hallux0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial IIHP:0040282 - Frequent106
HP:0010066HP:0010066Duplication of phalanx of hallux0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0010066HP:0010066Duplication of phalanx of hallux0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010066HP:0010066Duplication of phalanx of hallux0TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome.18
HP:0010066HP:0010084Duplication of the distal phalanx of the hallux1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010066HP:0010101Partial duplication of the phalanges of the hallux1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010066HP:0010100Complete duplication of hallux phalanx1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0010066HP:0010093Duplication of the proximal phalanx of the hallux1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0010066HP:0010096Complete duplication of the distal phalanx of the hallux2 CL E G H
HP:0010066HP:0010095Partial duplication of the proximal phalanx of the hallux2 CL E G H
HP:0010066HP:0010094Complete duplication of the proximal phalanx of the hallux2 CL E G H
HP:0010066HP:0010099Partial duplication of the 1st metatarsal2 CL E G H
HP:0010066HP:0010097Partial duplication of the distal phalanx of the hallux2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85


Genes (11) :ACTB C2CD3 CANT1 CREBBP EP300 HYLS1 KIF7 LMBR1 NEK1 RAB23 TWIST1

Diseases (10) :OMIM:243310 ORPHA:434179 OMIM:251450 OMIM:180849 OMIM:236680 OMIM:200990 OMIM:174500 ORPHA:2751 OMIM:201000 OMIM:180750
 

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