Human Phenotype Ontology 
Grandparent Node:
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Abnormal 3rd finger morphology (HP:0004150)help
Grandparent Node:
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Mesoaxial hand polydactyly (HP:0006159)help
Parent Node:
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Abnormal 3rd finger phalanx morphology (HP:0009316)help
Parent Node:
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Polydactyly affecting the 3rd finger (HP:0009958)help
..Starting node
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Duplication of phalanx of 3rd finger (HP:0009959)help
Term ID: 9959
Name: Duplication of phalanx of 3rd finger
Synonym: Duplication of middle finger bone; Partial/complete duplication of phalanges of the 3rd finger
Definition: This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Comments:
Reference: HP:0009959
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the phalanges of the 3rd finger (HP:0009960) help
................... HP:0009965 Complete duplication of the distal phalanx of the 3rd finger
................... HP:0009966 Complete duplication of the middle phalanx of the 3rd finger
................... HP:0009967 Complete duplication of the proximal phalanx of the 3rd finger
........expandPartial duplication of the phalanges of the 3rd finger (HP:0009961) help
................... HP:0009968 Partial duplication of the distal phalanx of the 3rd finger
................... HP:0009969 Partial duplication of the middle phalanx of the 3rd finger
................... HP:0009970 Partial duplication of the proximal phalanx of the 3rd finger
........expandDuplication of the distal phalanx of the 3rd finger (HP:0009962) help
................... HP:0009965 Complete duplication of the distal phalanx of the 3rd finger
................... HP:0009968 Partial duplication of the distal phalanx of the 3rd finger
........expandDuplication of the middle phalanx of the 3rd finger (HP:0009963) help
................... HP:0009966 Complete duplication of the middle phalanx of the 3rd finger
................... HP:0009969 Partial duplication of the middle phalanx of the 3rd finger
........expandDuplication of the proximal phalanx of the 3rd finger (HP:0009964) help
................... HP:0009967 Complete duplication of the proximal phalanx of the 3rd finger
................... HP:0009970 Partial duplication of the proximal phalanx of the 3rd 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:0009959HP:0009959Duplication of phalanx of 3rd finger0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009959HP:0009959Duplication of phalanx of 3rd finger0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009959HP:0009959Duplication of phalanx of 3rd finger0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009959HP:0009961Partial duplication of the phalanges of the 3rd finger1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009959HP:0009964Duplication of the proximal phalanx of the 3rd finger1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009959HP:0009960Complete duplication of the phalanges of the 3rd finger1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009959HP:0009963Duplication of the middle phalanx of the 3rd finger1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009959HP:0009961Partial duplication of the phalanges of the 3rd finger1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009959HP:0009962Duplication of the distal phalanx of the 3rd finger1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009959HP:0009961Partial duplication of the phalanges of the 3rd finger1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009959HP:0009962Duplication of the distal phalanx of the 3rd finger1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009959HP:0009969Partial duplication of the middle phalanx of the 3rd finger2 CL E G H
HP:0009959HP:0009967Complete duplication of the proximal phalanx of the 3rd finger2 CL E G H
HP:0009959HP:0009965Complete duplication of the distal phalanx of the 3rd finger2 CL E G H
HP:0009959HP:0009966Complete duplication of the middle phalanx of the 3rd finger2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009959HP:0009970Partial duplication of the proximal phalanx of the 3rd finger2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009959HP:0009968Partial duplication of the distal phalanx of the 3rd finger2FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009959HP:0009968Partial duplication of the distal phalanx of the 3rd finger2TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (3) :CHSY1 FGFR2 TWIST1

Diseases (2) :ORPHA:363417 OMIM:101400
 

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