Human Phenotype Ontology 
Grandparent Node:
expandAbnormal epiphysis morphology of the phalanges of the hand (HP:0005920)help
Grandparent Node:
expandPseudoepiphyses of hand bones (HP:0004288)help
Parent Node:
expandAbnormality of the epiphyses of the distal phalanx of finger (HP:0010243)help
Parent Node:
expandPseudoepiphyses of the phalanges of the hand (HP:0010235)help
..Starting node
..expandPseudoepiphyses of the distal phalanges of the hand (HP:0010253)help
Term ID: 10253
Name: Pseudoepiphyses of the distal phalanges of the hand
Synonym:
Definition: A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Comments:
Reference: HP:0010253
Genes and Diseases:
 
       Child Nodes:
........expandPseudoepiphysis of the distal phalanx of the 5th finger (HP:0009188) help
........expandPseudoepiphysis of the distal phalanx of the 4th finger (HP:0009257) help
........expandPseudoepiphysis of the distal phalanx of the 3rd finger (HP:0009342) help
........expandPseudoepiphysis of the distal phalanx of the 2nd finger (HP:0009509) help
........expandPseudoepiphysis of the distal phalanx of the thumb (HP:0009682) help

 Sister Nodes: 
..expandPseudoepiphyses of the 3rd finger (HP:0009417) help
..expandPseudoepiphyses of the 4th finger (HP:0009400) help
..expandPseudoepiphyses of the 5th finger (HP:0009389) help
..expandPseudoepiphyses of the middle phalanges of the hand (HP:0010264) help
..expandPseudoepiphyses of the proximal phalanges of the hand (HP:0010275) help
..expandPseudoepiphysis of the 2nd finger (HP:0009495) help
..expandPseudoepiphysis of the thumb (HP:0009693) 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:0010253HP:0010253Pseudoepiphyses of the distal phalanges of the hand0 CL E G H
HP:0010253HP:0009682Pseudoepiphysis of the distal phalanx of the thumb1 CL E G H
HP:0010253HP:0009509Pseudoepiphysis of the distal phalanx of the 2nd finger1 CL E G H
HP:0010253HP:0009342Pseudoepiphysis of the distal phalanx of the 3rd finger1 CL E G H
HP:0010253HP:0009257Pseudoepiphysis of the distal phalanx of the 4th finger1 CL E G H
HP:0010253HP:0009188Pseudoepiphysis 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.