Human Phenotype Ontology 
Grandparent Node:
expandDuplication of phalanx of hand (HP:0009997)help
Parent Node:
expandAbnormal 1st metacarpal morphology (HP:0010009)help
Parent Node:
expandDuplication of the proximal phalanx of hand (HP:0010006)help
..Starting node
..expandDuplication of the 1st metacarpal (HP:0009609)help
Term ID: 9609
Name: Duplication of the 1st metacarpal
Synonym: Partial/complete duplication of the 1st long bone of hand; Partial/complete duplication of the 1st metacarpal
Definition: Partail or complete duplication of the first metacarpal bone.
Comments:
Reference: HP:0009609
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the first metacarpal (HP:0009615) help
........expandBifid first metacarpal (HP:0009616) help

 Sister Nodes: 
..expandComplete duplication of the proximal phalanges of the hand (HP:0010000) help
..expandDuplication of the proximal phalanx of the 2nd finger (HP:0009947) help
..expandDuplication of the proximal phalanx of the 3rd finger (HP:0009964) 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:0009609HP:0009609Duplication of the 1st metacarpal0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009609HP:0009615Complete duplication of the first metacarpal1 CL E G H
HP:0009609HP:0009616Bifid first metacarpal1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15


Genes (1) :RNU4ATAC

Diseases (1) :OMIM:210710
 

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