Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the phalanges of the 2nd finger (HP:0009541)help
Parent Node:
expandAbnormality of the proximal phalanx of the 2nd finger (HP:0009544)help
..Starting node
..expandHypersegmentation of proximal phalanx of second finger (HP:0006206)help
Term ID: 6206
Name: Hypersegmentation of proximal phalanx of second finger
Synonym:
Definition: Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.
Comments:
Reference: HP:0006206
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009501) help
..expandAplasia/Hypoplasia of the proximal phalanx of the 2nd finger (HP:0009580) help
..expandBroad proximal phalanx of the 2nd finger (HP:0009581) help
..expandBullet-shaped proximal phalanx of the 2nd finger (HP:0009582) help
..expandCurved proximal phalanx of the 2nd finger (HP:0009583) help
..expandDuplication of the proximal phalanx of the 2nd finger (HP:0009947) help
..expandOsteolytic defects of the proximal phalanx of the 2nd finger (HP:0009584) help
..expandPatchy sclerosis of the proximal phalanx of the 2nd finger (HP:0009585) help
..expandSymphalangism affecting the proximal phalanx of the 2nd finger (HP:0009586) help
..expandTriangular shaped proximal phalanx of the 2nd finger (HP:0009587) 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:0006206HP:0006206Hypersegmentation of proximal phalanx of second finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C.52


Genes (1) :GDF5

Diseases (1) :OMIM:113100
 

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