Human Phenotype Ontology 
Grandparent Node:
expandAbnormal hallux phalanx morphology (HP:0010057)help
Grandparent Node:
expandDuplication of phalanx of toe (HP:0010181)help
Parent Node:
expandAbnormality of the distal phalanx of the hallux (HP:0010053)help
Parent Node:
expandDuplication of distal phalanx of toe (HP:0010193)help
Parent Node:
expandDuplication of phalanx of hallux (HP:0010066)help
..Starting node
..expandDuplication of the distal phalanx of the hallux (HP:0010084)help
Term ID: 10084
Name: Duplication of the distal phalanx of the hallux
Synonym: Duplication of the outermost bone of big toe; Partial/complete duplication of the distal phalanx of the hallux
Definition:
Comments:
Reference: HP:0010084
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the distal phalanx of the hallux (HP:0010096) help
........expandPartial duplication of the distal phalanx of the hallux (HP:0010097) help

 Sister Nodes: 
..expandComplete duplication of hallux phalanx (HP:0010100) help
..expandDuplication of the proximal phalanx of the hallux (HP:0010093) help
..expandPartial duplication of the phalanges of the hallux (HP:0010101) 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:0010084HP:0010084Duplication of the distal phalanx of the hallux0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010084HP:0010096Complete duplication of the distal phalanx of the hallux1 CL E G H
HP:0010084HP:0010097Partial duplication of the distal phalanx of the hallux1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85


Genes (1) :CANT1

Diseases (1) :OMIM:251450
 

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