Human Phenotype Ontology 
Grandparent Node:
expandAbnormal 3rd finger phalanx morphology (HP:0009316)help
Grandparent Node:
expandPolydactyly affecting the 3rd finger (HP:0009958)help
Parent Node:
expandComplete duplication of phalanx of hand (HP:0009998)help
Parent Node:
expandDuplication of phalanx of 3rd finger (HP:0009959)help
..Starting node
..expandComplete duplication of the phalanges of the 3rd finger (HP:0009960)help
Term ID: 9960
Name: Complete duplication of the phalanges of the 3rd finger
Synonym: Complete duplication of middle finger bones
Definition: A complete duplication affecting one or more of the phalanges of the 3rd 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, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Comments:
Reference: HP:0009960
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the distal phalanx of the 3rd finger (HP:0009965) help
........expandComplete duplication of the middle phalanx of the 3rd finger (HP:0009966) help
........expandComplete duplication of the proximal phalanx of the 3rd finger (HP:0009967) help

 Sister Nodes: 
..expandDuplication of the distal phalanx of the 3rd finger (HP:0009962) help
..expandDuplication of the middle phalanx of the 3rd finger (HP:0009963) help
..expandDuplication of the proximal phalanx of the 3rd finger (HP:0009964) help
..expandPartial duplication of the phalanges of the 3rd finger (HP:0009961) 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:0009960HP:0009960Complete duplication of the phalanges of the 3rd finger0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009960HP:0009965Complete duplication of the distal phalanx of the 3rd finger1 CL E G H
HP:0009960HP:0009967Complete duplication of the proximal phalanx of the 3rd finger1 CL E G H
HP:0009960HP:0009966Complete duplication of the middle phalanx of the 3rd finger1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16


Genes (1) :CHSY1

Diseases (1) :ORPHA:363417
 

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