Human Phenotype Ontology 
Grandparent Node:
expandDuplication of phalanx of hand (HP:0009997)help
Parent Node:
expandAbnormality of the proximal phalanx of the 3rd finger (HP:0009358)help
Parent Node:
expandDuplication of phalanx of 3rd finger (HP:0009959)help
Parent Node:
expandDuplication of the proximal phalanx of hand (HP:0010006)help
..Starting node
..expandDuplication of the proximal phalanx of the 3rd finger (HP:0009964)help
Term ID: 9964
Name: Duplication of the proximal phalanx of the 3rd finger
Synonym: Duplication of the proximal bone of the middle finger; Partial/complete duplication of the proximal phalanx of the 3rd finger
Definition: Partial or complete duplication of the third proximal phalanx of hand.
Comments:
Reference: HP:0009964
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the proximal phalanx of the 3rd finger (HP:0009967) help
........expandPartial duplication of the proximal phalanx of the 3rd finger (HP:0009970) help

 Sister Nodes: 
..expandComplete duplication of the proximal phalanges of the hand (HP:0010000) help
..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 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:0009964HP:0009964Duplication of the proximal phalanx of the 3rd finger0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009964HP:0009967Complete duplication of the proximal phalanx of the 3rd finger1 CL E G H
HP:0009964HP:0009970Partial duplication of the proximal 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.