Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the phalanges of the 2nd finger (HP:0009541)help
Parent Node:
expandAbnormality of the epiphyses of the 2nd finger (HP:0006263)help
Parent Node:
expandAbnormality of the epiphyses of the middle phalanges of the hand (HP:0010244)help
Parent Node:
expandAbnormality of the middle phalanx of the 2nd finger (HP:0009543)help
..Starting node
..expandAbnormality of the epiphysis of the middle phalanx of the 2nd finger (HP:0009500)help
Term ID: 9500
Name: Abnormality of the epiphysis of the middle phalanx of the 2nd finger
Synonym: Abnormality of end part of the middle bone of the index finger; Epiphyseal abnormality of middle phalanx of the 2nd finger
Definition:
Comments:
Reference: HP:0009500
Genes and Diseases:
 
       Child Nodes:
........expandAbsent epiphysis of the middle phalanx of the 2nd finger (HP:0009513) help
........expandBracket epiphysis of the middle phalanx of the 2nd finger (HP:0009514) help
........expandCone-shaped epiphysis of the middle phalanx of the 2nd finger (HP:0009515) help
........expandEnlarged epiphysis of the middle phalanx of the 2nd finger (HP:0009516) help
........expandFragmentation of the epiphysis of the middle phalanx of the 2nd finger (HP:0009517) help
........expandIrregular epiphysis of the middle phalanx of the 2nd finger (HP:0009518) help
........expandIvory epiphysis of the middle phalanx of the 2nd finger (HP:0009519) help
........expandPseudoepiphysis of the middle phalanx of the 2nd finger (HP:0009520) help
........expandSmall epiphysis of the middle phalanx of the 2nd finger (HP:0009521) help
........expandStippling of the epiphysis of the middle phalanx of the 2nd finger (HP:0009522) help
........expandTriangular epiphysis of the middle phalanx of the 2nd finger (HP:0009523) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568) help
..expandBroad middle phalanx of the 2nd finger (HP:0009569) help
..expandBullet-shaped middle phalanx of the 2nd finger (HP:0009570) help
..expandCurved middle phalanx of the 2nd finger (HP:0009571) help
..expandDuplication of the middle phalanx of the 2nd finger (HP:0009949) help
..expandOsteolytic defects of the middle phalanx of the 2nd finger (HP:0009572) help
..expandPatchy sclerosis of the middle phalanx of the 2nd finger (HP:0009573) help
..expandSymphalangism of middle phalanx of 2nd finger (HP:0009574) help
..expandTriangular shaped middle phalanx of the 2nd finger (HP:0009575) 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:0009500HP:0009500Abnormality of the epiphysis of the middle phalanx of the 2nd finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009500HP:0009517Fragmentation of the epiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009515Cone-shaped epiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009522Stippling of the epiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009514Bracket epiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009521Small epiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009513Absent epiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009520Pseudoepiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009519Ivory epiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009518Irregular epiphysis of the middle phalanx of the 2nd finger1 CL E G H
HP:0009500HP:0009523Triangular epiphysis of the middle phalanx of the 2nd finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0009500HP:0009516Enlarged epiphysis of the middle phalanx of the 2nd finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52


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.