Human Phenotype Ontology 
Grandparent Node:
expandAbnormal long bone morphology (HP:0011314)help
Parent Node:
expandAbnormal epiphysis morphology (HP:0005930)help
..Starting node
..expandPremature epimetaphyseal fusion (HP:0010588)help
Term ID: 10588
Name: Premature epimetaphyseal fusion
Synonym: Premature closure of epiphyses
Definition: Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
Comments:
Reference: HP:0010588
Genes and Diseases:
 
       Child Nodes:
........expandPremature epimetaphyseal fusion in hand (HP:0012562) help
........expandPremature epimetaphyseal fusion in foot (HP:0012563) help
........expandPremature epimetaphyseal fusion in tibia (HP:0012564) help
........expandPremature epimetaphyseal fusion in fibula (HP:0012565) help
........expandPremature epimetaphyseal fusion in radius (HP:0012566) help
........expandPremature epimetaphyseal fusion in ulna (HP:0012567) help

 Sister Nodes: 
..expandAbnormal limb epiphysis morphology (HP:0006505) help
..expandAbnormality of vertebral epiphysis morphology (HP:0100734) help
..expandAbsent epiphyses (HP:0010577) help
..expandBracket epiphyses (HP:0010578) help
..expandCone-shaped epiphysis (HP:0010579) help
..expandDelayed epiphyseal ossification (HP:0002663) help
..expandEnlarged epiphyses (HP:0010580) help
..expandEpiphyseal deformities of tubular bones (HP:0003053) help
..expandEpiphyseal dysplasia (HP:0002656) help
..expandEpiphyseal stippling (HP:0010655) help
..expandEpiphyseal streaking (HP:0004990) help
..expandFlattened epiphysis (HP:0003071) help
..expandFragmented epiphyses (HP:0100168) help
..expandIrregular epiphyses (HP:0010582) help
..expandIvory epiphyses (HP:0010583) help
..expandMultinucleated giant chondrocytes in epiphyseal cartilage (HP:0030330) help
..expandPseudoepiphyses (HP:0010584) help
..expandSmall epiphyses (HP:0010585) help
..expandSplayed epiphyses (HP:0200003) help
..expandTriangular epiphyses (HP:0010587) 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:0010588HP:0010588Premature epimetaphyseal fusion0 CL E G H
HP:0010588HP:0012563Premature epimetaphyseal fusion in foot1 CL E G H
HP:0010588HP:0012562Premature epimetaphyseal fusion in hand1 CL E G H
HP:0010588HP:0012567Premature epimetaphyseal fusion in ulna1 CL E G H
HP:0010588HP:0012566Premature epimetaphyseal fusion in radius1 CL E G H
HP:0010588HP:0012565Premature epimetaphyseal fusion in fibula1 CL E G H
HP:0010588HP:0012564Premature epimetaphyseal fusion in tibia1 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.