Human Phenotype Ontology 
Grandparent Node:
expandDuplication of phalanx of hand (HP:0009997)help
Parent Node:
expandComplete duplication of phalanx of hand (HP:0009998)help
Parent Node:
expandDuplication of the proximal phalanx of hand (HP:0010006)help
..Starting node
..expandComplete duplication of the proximal phalanges of the hand (HP:0010000)help
Term ID: 10000
Name: Complete duplication of the proximal phalanges of the hand
Synonym: Complete duplication of the innermost bones of the hand
Definition: A complete duplication affecting one or more of the proximal phalanges of the hand. 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:0010000
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the first metacarpal (HP:0009615) help
........expandComplete duplication of the proximal phalanx of the 2nd finger (HP:0009954) help
........expandComplete duplication of the proximal phalanx of the 3rd finger (HP:0009967) help
........expandComplete duplication of the proximal phalanx of the 4th finger (HP:0009980) help
........expandComplete duplication of the proximal phalanx of the 5th finger (HP:0009993) help

 Sister Nodes: 
..expandDuplication of the 1st metacarpal (HP:0009609) help
..expandDuplication of the proximal phalanx of the 2nd finger (HP:0009947) help
..expandDuplication of the proximal phalanx of the 3rd finger (HP:0009964) help
..expandDuplication of the proximal phalanx of the 4th finger (HP:0009977) help
..expandDuplication of the proximal phalanx of the 5th finger (HP:0009990) help
..expandPartial duplication of the proximal phalanges of the hand (HP:0010003) 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:0010000HP:0010000Complete duplication of the proximal phalanges of the hand0 CL E G H
HP:0010000HP:0009993Complete duplication of the proximal phalanx of the 5th finger1 CL E G H
HP:0010000HP:0009980Complete duplication of the proximal phalanx of the 4th finger1 CL E G H
HP:0010000HP:0009967Complete duplication of the proximal phalanx of the 3rd finger1 CL E G H
HP:0010000HP:0009954Complete duplication of the proximal phalanx of the 2nd finger1 CL E G H
HP:0010000HP:0009615Complete duplication of the first metacarpal1 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.