Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the phalanges of the 2nd finger (HP:0009541)help
Grandparent Node:
expandPolydactyly affecting the 2nd finger (HP:0009946)help
Parent Node:
expandComplete duplication of phalanx of hand (HP:0009998)help
Parent Node:
expandDuplication of phalanx of 2nd finger (HP:0009945)help
..Starting node
..expandComplete duplication of the phalanges of the 2nd finger (HP:0009957)help
Term ID: 9957
Name: Complete duplication of the phalanges of the 2nd finger
Synonym: Complete duplication of the bones of the index finger
Definition: A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Comments:
Reference: HP:0009957
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the distal phalanx of the 2nd finger (HP:0009950) help
........expandComplete duplication of the middle phalanx of the 2nd finger (HP:0009952) help
........expandComplete duplication of the proximal phalanx of the 2nd finger (HP:0009954) help

 Sister Nodes: 
..expandDuplication of the distal phalanx of the 2nd finger (HP:0009948) help
..expandDuplication of the middle phalanx of the 2nd finger (HP:0009949) help
..expandDuplication of the proximal phalanx of the 2nd finger (HP:0009947) help
..expandPartial duplication of the phalanges of the 2nd finger (HP:0009956) 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:0009957HP:0009957Complete duplication of the phalanges of the 2nd finger0 CL E G H
HP:0009957HP:0009950Complete duplication of the distal phalanx of the 2nd finger1 CL E G H
HP:0009957HP:0009954Complete duplication of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009957HP:0009952Complete duplication of the middle phalanx of the 2nd finger1 CL E G H


Genes (0) :

Diseases (0) :
 

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