Human Phenotype Ontology 
Grandparent Node:
expandAbnormal epiphysis morphology of the phalanges of the hand (HP:0005920)help
Grandparent Node:
expandAbsent epiphyses (HP:0010577)help
Parent Node:
expandAbnormality of the epiphyses of the proximal phalanges of the hand (HP:0010245)help
Parent Node:
expandAbsent epiphyses of the phalanges of the hand (HP:0010228)help
..Starting node
..expandAbsent epiphyses of the proximal phalanges of the hand (HP:0010268)help
Term ID: 10268
Name: Absent epiphyses of the proximal phalanges of the hand
Synonym: Absent end part of the innermost hand bones
Definition:
Comments:
Reference: HP:0010268
Genes and Diseases:
 
       Child Nodes:
........expandAbsent epiphysis of the proximal phalanx of the 5th finger (HP:0009160) help
........expandAbsent epiphysis of the proximal phalanx of the 4th finger (HP:0009261) help
........expandAbsent epiphysis of the proximal phalanx of the 3rd finger (HP:0009346) help
........expandAbsent epiphysis of the proximal phalanx of the 2nd finger (HP:0009524) help
........expandAbsent epiphysis of the 1st metacarpal (HP:0010015) help

 Sister Nodes: 
..expandAbsent epiphyses of the 2nd finger (HP:0009488) help
..expandAbsent epiphyses of the 3rd finger (HP:0009410) help
..expandAbsent epiphyses of the 4th finger (HP:0009393) help
..expandAbsent epiphyses of the 5th finger (HP:0009382) help
..expandAbsent epiphyses of the distal phalanges of the hand (HP:0010246) help
..expandAbsent epiphyses of the middle phalanges of the hand (HP:0010257) help
..expandAbsent epiphyses of the thumb (HP:0009686) 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:0010268HP:0010268Absent epiphyses of the proximal phalanges of the hand0 CL E G H
HP:0010268HP:0009261Absent epiphysis of the proximal phalanx of the 4th finger1 CL E G H
HP:0010268HP:0009160Absent epiphysis of the proximal phalanx of the 5th finger1 CL E G H
HP:0010268HP:0010015Absent epiphysis of the 1st metacarpal1 CL E G H
HP:0010268HP:0009524Absent epiphysis of the proximal phalanx of the 2nd finger1 CL E G H
HP:0010268HP:0009346Absent epiphysis of the proximal phalanx of the 3rd 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.