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 proximal phalanx of the thumb (HP:0009618)help
Parent Node:
expandDuplication of the middle phalanx of hand (HP:0010008)help
Parent Node:
expandDuplication of thumb phalanx (HP:0009942)help
..Starting node
..expandDuplication of the proximal phalanx of the thumb (HP:0009613)help
Term ID: 9613
Name: Duplication of the proximal phalanx of the thumb
Synonym: Notched innermost bone of thumb; Partial/complete duplication of the proximal phalanx of the thumb
Definition: Complete or partial duplication of the proximal 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. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Comments:
Reference: HP:0009613
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of proximal phalanx of the thumb (HP:0009608) help
........expandBifid proximal phalanx of the thumb (HP:0009614) help

 Sister Nodes: 
..expandComplete duplication of thumb phalanx (HP:0009943) help
..expandDuplication of the distal phalanx of the thumb (HP:0009612) 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:0009613HP:0009613Duplication of the proximal phalanx of the thumb0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009613HP:0009613Duplication of the proximal phalanx of the thumb0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009613HP:0009614Bifid proximal phalanx of the thumb1 CL E G H
HP:0009613HP:0009608Complete duplication of proximal phalanx of the thumb1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009613HP:0009608Complete duplication of proximal phalanx of the thumb1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131


Genes (2) :CHSY1 RAB23

Diseases (2) :ORPHA:363417 OMIM:201000
 

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