Human Phenotype Ontology 
Grandparent Node:
expandAbnormal finger phalanx morphology (HP:0005918)help
Grandparent Node:
expandAbnormal hand epiphysis morphology (HP:0005924)help
Parent Node:
expandAbnormal epiphyseal ossification (HP:0010656)help
Parent Node:
expandAbnormal epiphysis morphology of the phalanges of the hand (HP:0005920)help
..Starting node
..expandPremature fusion of phalangeal epiphyses (HP:0006140)help
Term ID: 6140
Name: Premature fusion of phalangeal epiphyses
Synonym: Premature fusion of end part of digital bone
Definition: Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.
Comments:
Reference: HP:0006140
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the epiphyses of the 2nd finger (HP:0006263) help
..expandAbnormality of the epiphyses of the 3rd finger (HP:0009320) help
..expandAbnormality of the epiphyses of the 4th finger (HP:0009174) help
..expandAbnormality of the epiphyses of the 5th finger (HP:0009152) help
..expandAbnormality of the epiphyses of the distal phalanx of finger (HP:0010243) help
..expandAbnormality of the epiphyses of the middle phalanges of the hand (HP:0010244) help
..expandAbnormality of the epiphyses of the proximal phalanges of the hand (HP:0010245) help
..expandAbnormality of thumb epiphysis (HP:0009599) help
..expandAbsent epiphyses of the phalanges of the hand (HP:0010228) help
..expandBracket epiphyses of the phalanges of the hand (HP:0010229) help
..expandCone-shaped epiphyses of the phalanges of the hand (HP:0010230) help
..expandEnlarged epiphyses of the phalanges of the hand (HP:0010231) help
..expandEpiphyseal stippling of finger phalanges (HP:0010237) help
..expandFragmentation of the epiphyses of the phalanges of the hand (HP:0010232) help
..expandIrregular epiphyses of the phalanges of the hand (HP:0010233) help
..expandIvory epiphyses of the phalanges of the hand (HP:0010234) help
..expandPseudoepiphyses of the phalanges of the hand (HP:0010235) help
..expandSmall epiphyses of the phalanges of the hand (HP:0010236) help
..expandThin proximal phalanges with broad epiphyses of the hand (HP:0006213) help
..expandTriangular epiphyses of the phalanges of the hand (HP:0010238) 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:0006140HP:0006140Premature fusion of phalangeal epiphyses0MGP CL E G H42567060OMIM:245150Keutel syndrome.33


Genes (1) :MGP

Diseases (1) :OMIM:245150
 

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