Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of thumb phalanx (HP:0009602)help
Grandparent Node:
expandDuplication of phalanx of hand (HP:0009997)help
Parent Node:
expandAbnormality of the distal phalanx of the thumb (HP:0009617)help
Parent Node:
expandDuplication of the distal phalanx of hand (HP:0009883)help
Parent Node:
expandDuplication of thumb phalanx (HP:0009942)help
..Starting node
..expandDuplication of the distal phalanx of the thumb (HP:0009612)help
Term ID: 9612
Name: Duplication of the distal phalanx of the thumb
Synonym: Double thumb distal phalanges; Duplicated terminal phalanx of thumb; Duplication of distal thumb phalanx; Duplication of terminal thumb phalanx; Duplication of the outermost bone of the thumb; Partial/complete duplication of the distal phalanx of the thumb
Definition: Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.
Comments:
Reference: HP:0009612
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of distal phalanx of the thumb (HP:0009606) help
........expandBifid distal phalanx of the thumb (HP:0009611) help

 Sister Nodes: 
..expandComplete duplication of thumb phalanx (HP:0009943) help
..expandDuplication of the proximal phalanx of the thumb (HP:0009613) help
..expandPartial duplication of thumb phalanx (HP:0009944) 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:0009612HP:0009612Duplication of the distal phalanx of the thumb0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009612HP:0009612Duplication of the distal phalanx of the thumb0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009612HP:0009612Duplication of the distal phalanx of the thumb0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009612HP:0009612Duplication of the distal phalanx of the thumb0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009612HP:0009612Duplication of the distal phalanx of the thumb0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009612HP:0009612Duplication of the distal phalanx of the thumb0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009612HP:0009612Duplication of the distal phalanx of the thumb0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009612HP:0009606Complete duplication of distal phalanx of the thumb1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040282 - Frequent90
HP:0009612HP:0009611Bifid distal phalanx of the thumb1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009612HP:0009606Complete duplication of distal phalanx of the thumb1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040282 - Frequent52
HP:0009612HP:0009611Bifid distal phalanx of the thumb1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0009612HP:0009606Complete duplication of distal phalanx of the thumb1LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II.106
HP:0009612HP:0009611Bifid distal phalanx of the thumb1PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040284 - Very rare641
HP:0009612HP:0009611Bifid distal phalanx of the thumb1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyHP:0040284 - Very rare


Genes (7) :BMPR1B CANT1 GDF5 KIF7 LMBR1 PAH PPP2R3C

Diseases (6) :ORPHA:93384 OMIM:251450 OMIM:200990 OMIM:174500 ORPHA:2209 OMIM:618419
 

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