Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the proximal phalanx of the thumb (HP:0009618)help
Grandparent Node:
expandDuplication of the middle phalanx of hand (HP:0010008)help
Grandparent Node:
expandDuplication of thumb phalanx (HP:0009942)help
Parent Node:
expandComplete duplication of the middle phalanges of the hand (HP:0010002)help
Parent Node:
expandComplete duplication of thumb phalanx (HP:0009943)help
Parent Node:
expandDuplication of the proximal phalanx of the thumb (HP:0009613)help
..Starting node
..expandComplete duplication of proximal phalanx of the thumb (HP:0009608)help
Term ID: 9608
Name: Complete duplication of proximal phalanx of the thumb
Synonym: Complete duplication of the innermost bone of the thumb
Definition: Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear 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:0009608
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBifid proximal phalanx of the thumb (HP:0009614) 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:0009608HP:0009608Complete duplication of proximal phalanx of the thumb0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009608HP:0009608Complete duplication of proximal phalanx of the thumb0RAB23 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.