Human Phenotype Ontology 
Grandparent Node:
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Abnormal distal phalanx morphology of finger (HP:0009832)help
Grandparent Node:
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Duplication of phalanx of hand (HP:0009997)help
Parent Node:
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Abnormality of the distal phalanx of the 2nd finger (HP:0009542)help
Parent Node:
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Duplication of phalanx of 2nd finger (HP:0009945)help
Parent Node:
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Duplication of the distal phalanx of hand (HP:0009883)help
..Starting node
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Duplication of the distal phalanx of the 2nd finger (HP:0009948)help
Term ID: 9948
Name: Duplication of the distal phalanx of the 2nd finger
Synonym: Partial/complete duplication of the distal phalanx of the 2nd finger; Partial/complete duplication of the outermost bone of the index finger
Definition: Partial or complete duplication of the distal phalanx of index finger.
Comments:
Reference: HP:0009948
Genes and Diseases:
 
       Child Nodes:
........expandComplete duplication of the distal phalanx of the 2nd finger (HP:0009950) help
........expandPartial duplication of the distal phalanx of the 2nd finger (HP:0009951) help

 Sister Nodes: 
..expandComplete duplication of the distal phalanges of the hand (HP:0010001) 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:0009948HP:0009948Duplication of the distal phalanx of the 2nd finger0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009948HP:0009948Duplication of the distal phalanx of the 2nd finger0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009948HP:0009950Complete duplication of the distal phalanx of the 2nd finger1 CL E G H
HP:0009948HP:0009951Partial duplication of the distal phalanx of the 2nd finger1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009948HP:0009951Partial duplication of the distal phalanx of the 2nd finger1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (2) :FGFR2 TWIST1

Diseases (1) :OMIM:101400
 

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