Human Phenotype Ontology 
Grandparent Node:
expandAbnormal distal phalanx morphology of finger (HP:0009832)help
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 distal phalanx of hand (HP:0009883)help
..Starting node
..expandComplete duplication of the distal phalanges of the hand (HP:0010001)help
Term ID: 10001
Name: Complete duplication of the distal phalanges of the hand
Synonym: Complete duplication of the outermost bones of the hand
Definition: A complete duplication affecting one or more of the distal phalanges of the hand.
Comments:
Reference: HP:0010001
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of distal phalanx of the thumb (HP:0009606) help
........expandComplete duplication of the distal phalanx of the 2nd finger (HP:0009950) help
........expandComplete duplication of the distal phalanx of the 3rd finger (HP:0009965) help
........expandComplete duplication of the distal phalanx of the 4th finger (HP:0009978) help
........expandComplete duplication of the distal phalanx of the 5th finger (HP:0009991) help

 Sister Nodes: 
..expandDuplication of the distal phalanx of the 2nd finger (HP:0009948) help
..expandDuplication of the distal phalanx of the 3rd finger (HP:0009962) help
..expandDuplication of the distal phalanx of the 4th finger (HP:0009975) help
..expandDuplication of the distal phalanx of the 5th finger (HP:0009988) help
..expandDuplication of the distal phalanx of the thumb (HP:0009612) help
..expandPartial duplication of the distal phalanges of the hand (HP:0010004) 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:0010001HP:0010001Complete duplication of the distal phalanges of the hand0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0010001HP:0010001Complete duplication of the distal phalanges of the hand0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0010001HP:0010001Complete duplication of the distal phalanges of the hand0LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosisHP:0040281 - Very frequent68
HP:0010001HP:0010001Complete duplication of the distal phalanges of the hand0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0010001HP:0009991Complete duplication of the distal phalanx of the 5th finger1 CL E G H
HP:0010001HP:0009978Complete duplication of the distal phalanx of the 4th finger1 CL E G H
HP:0010001HP:0009965Complete duplication of the distal phalanx of the 3rd finger1 CL E G H
HP:0010001HP:0009950Complete duplication of the distal phalanx of the 2nd finger1 CL E G H
HP:0010001HP:0009606Complete duplication of distal phalanx of the thumb1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040282 - Frequent90
HP:0010001HP:0009606Complete duplication of distal phalanx of the thumb1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040282 - Frequent52
HP:0010001HP:0009606Complete duplication of distal phalanx of the thumb1LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II.106


Genes (4) :BMPR1B GDF5 LEMD3 LMBR1

Diseases (3) :ORPHA:93384 ORPHA:1879 OMIM:174500
 

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