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 proximal phalanges of the hand (HP:0010245)help
Parent Node:
expandAbnormality of the proximal phalanx of the 2nd finger (HP:0009544)help
..Starting node
..expandAbnormality of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009501)help
Term ID: 9501
Name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
Synonym: Epiphyseal abnormality of the proximal phalanx of the 2nd finger
Definition:
Comments:
Reference: HP:0009501
Genes and Diseases:
 
       Child Nodes:
........expandAbsent epiphysis of the proximal phalanx of the 2nd finger (HP:0009524) help
........expandBracket epiphysis of the proximal phalanx of the 2nd finger (HP:0009525) help
........expandCone-shaped epiphysis of the proximal phalanx of the 2nd finger (HP:0009526) help
........expandEnlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527) help
........expandFragmentation of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009528) help
........expandIrregular epiphysis of the proximal phalanx of the 2nd finger (HP:0009529) help
........expandIvory epiphysis of the proximal phalanx of the 2nd finger (HP:0009530) help
........expandPseudoepiphysis of the proximal phalanx of the 2nd finger (HP:0009531) help
........expandSmall epiphysis of the proximal phalanx of the 2nd finger (HP:0009532) help
........expandStippling of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009533) help
........expandTriangular epiphysis of the proximal phalanx of the 2nd finger (HP:0009534) help

 Sister Nodes: 
..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
..expandHypersegmentation of proximal phalanx of second finger (HP:0006206) 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:0009501HP:0009501Abnormality of the epiphysis of the proximal phalanx of the 2nd finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009501HP:0009533Stippling of the epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009525Bracket epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009532Small epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009524Absent epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009531Pseudoepiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009530Ivory epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009529Irregular epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009528Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009526Cone-shaped epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0009501HP:0009534Triangular epiphysis of the proximal phalanx of the 2nd finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0009501HP:0009527Enlarged epiphysis of the proximal 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.