Human Phenotype Ontology 
Grandparent Node:
expandAbnormal hallux phalanx morphology (HP:0010057)help
Grandparent Node:
expandDuplication of phalanx of toe (HP:0010181)help
Parent Node:
expandDuplication of phalanx of hallux (HP:0010066)help
..Starting node
..expandComplete duplication of hallux phalanx (HP:0010100)help
Term ID: 10100
Name: Complete duplication of hallux phalanx
Synonym: Complete duplication of big toe bones; Complete duplication of the phalanges of the hallux
Definition: Complete duplication of one or more phalanx of big toe.
Comments:
Reference: HP:0010100
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the proximal phalanx of the hallux (HP:0010094) help
........expandComplete duplication of the distal phalanx of the hallux (HP:0010096) help

 Sister Nodes: 
..expandDuplication of the distal phalanx of the hallux (HP:0010084) 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:0010100HP:0010100Complete duplication of hallux phalanx0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0010100HP:0010096Complete duplication of the distal phalanx of the hallux1 CL E G H
HP:0010100HP:0010094Complete duplication of the proximal phalanx of the hallux1 CL E G H


Genes (1) :NEK1

Diseases (1) :ORPHA:2751
 

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