Human Phenotype Ontology 
Grandparent Node:
expandAbnormal epiphysis morphology of the phalanges of the hand (HP:0005920)help
Grandparent Node:
expandIrregular epiphyses of the upper limbs (HP:0003842)help
Parent Node:
expandAbnormality of the epiphyses of the distal phalanx of finger (HP:0010243)help
Parent Node:
expandIrregular epiphyses of the phalanges of the hand (HP:0010233)help
..Starting node
..expandIrregular epiphyses of the distal phalanges of the hand (HP:0010251)help
Term ID: 10251
Name: Irregular epiphyses of the distal phalanges of the hand
Synonym: Irregular end part of the outermost hand bones
Definition:
Comments:
Reference: HP:0010251
Genes and Diseases:
 
       Child Nodes:
........expandIrregular epiphysis of the distal phalanx of the 5th finger (HP:0009167) help
........expandIrregular epiphysis of the distal phalanx of the 4th finger (HP:0009255) help
........expandIrregular epiphysis of the distal phalanx of the 3rd finger (HP:0009340) help
........expandIrregular epiphysis of the distal phalanx of the 2nd finger (HP:0009507) help
........expandIrregular epiphysis of the distal phalanx of the thumb (HP:0009680) help

 Sister Nodes: 
..expandIrregular epiphyses of the 2nd finger (HP:0009493) help
..expandIrregular epiphyses of the 3rd finger (HP:0009415) help
..expandIrregular epiphyses of the 4th finger (HP:0009398) help
..expandIrregular epiphyses of the 5th finger (HP:0009387) help
..expandIrregular epiphyses of the middle phalanges of the hand (HP:0010262) help
..expandIrregular epiphyses of the proximal phalanges of the hand (HP:0010273) help
..expandIrregular thumb epiphysis (HP:0009691) 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:0010251HP:0010251Irregular epiphyses of the distal phalanges of the hand0 CL E G H
HP:0010251HP:0009680Irregular epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0010251HP:0009507Irregular epiphysis of the distal phalanx of the 2nd finger1 CL E G H
HP:0010251HP:0009340Irregular epiphysis of the distal phalanx of the 3rd finger1 CL E G H
HP:0010251HP:0009255Irregular epiphysis of the distal phalanx of the 4th finger1 CL E G H
HP:0010251HP:0009167Irregular epiphysis of the distal phalanx of the 5th finger1 CL E G H


Genes (0) :

Diseases (0) :
 

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