Human Phenotype Ontology 
Grandparent Node:
expandAbnormal 2nd finger morphology (HP:0004100)help
Grandparent Node:
expandMesoaxial hand polydactyly (HP:0006159)help
Parent Node:
expandAbnormality of the phalanges of the 2nd finger (HP:0009541)help
Parent Node:
expandPolydactyly affecting the 2nd finger (HP:0009946)help
..Starting node
..expandDuplication of phalanx of 2nd finger (HP:0009945)help
Term ID: 9945
Name: Duplication of phalanx of 2nd finger
Synonym: Duplication of the bones of index finger; Partial/complete duplication of phalanges of the 2nd finger
Definition: This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Comments:
Reference: HP:0009945
Genes and Diseases:
 
       Child Nodes:
........expandDuplication of the proximal phalanx of the 2nd finger (HP:0009947) help
................... HP:0009954 Complete duplication of the proximal phalanx of the 2nd finger
................... HP:0009955 Partial duplication of the proximal phalanx of the 2nd finger
........expandDuplication of the distal phalanx of the 2nd finger (HP:0009948) help
................... HP:0009950 Complete duplication of the distal phalanx of the 2nd finger
................... HP:0009951 Partial duplication of the distal phalanx of the 2nd finger
........expandDuplication of the middle phalanx of the 2nd finger (HP:0009949) help
................... HP:0009952 Complete duplication of the middle phalanx of the 2nd finger
................... HP:0009953 Partial duplication of the middle phalanx of the 2nd finger
........expandPartial duplication of the phalanges of the 2nd finger (HP:0009956) help
................... HP:0009951 Partial duplication of the distal phalanx of the 2nd finger
................... HP:0009953 Partial duplication of the middle phalanx of the 2nd finger
................... HP:0009955 Partial duplication of the proximal phalanx of the 2nd finger
........expandComplete duplication of the phalanges of the 2nd finger (HP:0009957) help
................... HP:0009950 Complete duplication of the distal phalanx of the 2nd finger
................... HP:0009952 Complete duplication of the middle phalanx of the 2nd finger
................... HP:0009954 Complete duplication of the proximal phalanx of the 2nd finger

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009945HP:0009945Duplication of phalanx of 2nd finger0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009945HP:0009945Duplication of phalanx of 2nd finger0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009945HP:0009949Duplication of the middle phalanx of the 2nd finger1 CL E G H
HP:0009945HP:0009957Complete duplication of the phalanges of the 2nd finger1 CL E G H
HP:0009945HP:0009947Duplication of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009945HP:0009948Duplication of the distal phalanx of the 2nd finger1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009945HP:0009956Partial duplication of the phalanges of the 2nd finger1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009945HP:0009956Partial duplication of the phalanges of the 2nd finger1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009945HP:0009948Duplication of the distal phalanx of the 2nd finger1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009945HP:0009954Complete duplication of the proximal phalanx of the 2nd finger2 CL E G H
HP:0009945HP:0009953Partial duplication of the middle phalanx of the 2nd finger2 CL E G H
HP:0009945HP:0009952Complete duplication of the middle phalanx of the 2nd finger2 CL E G H
HP:0009945HP:0009950Complete duplication of the distal phalanx of the 2nd finger2 CL E G H
HP:0009945HP:0009955Partial duplication of the proximal phalanx of the 2nd finger2 CL E G H
HP:0009945HP:0009951Partial duplication of the distal phalanx of the 2nd finger2FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009945HP:0009951Partial duplication of the distal phalanx of the 2nd finger2TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (2) :FGFR2 TWIST1

Diseases (1) :OMIM:101400
 

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