Human Phenotype Ontology 
Grandparent Node:
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Abnormal joint morphology (HP:0001367)help
Parent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Parent Node:
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Joint dislocation (HP:0001373)help
..Starting node
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Phalangeal dislocation (HP:0006243)help
Term ID: 6243
Name: Phalangeal dislocation
Synonym:
Definition:
Comments:
Reference: HP:0006243
Genes and Diseases:
 
       Child Nodes:
........expandSubluxation of the proximal interphalangeal joint of the little finger (HP:0004230) help

 Sister Nodes: 
..expandLarge joint dislocations (HP:0005008) help
..expandLower extremity joint dislocation (HP:0030311) help
..expandMultiple joint dislocation (HP:0012095) help
..expandRecurrent joint dislocation (HP:0031869) help
..expandUpper extremity joint dislocation (HP:0030310) 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:0006243HP:0006243Phalangeal dislocation0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0006243HP:0006243Phalangeal dislocation0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0006243HP:0006243Phalangeal dislocation0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1HP:0040283 - Occasional29
HP:0006243HP:0006243Phalangeal dislocation0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0006243HP:0006243Phalangeal dislocation0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0006243HP:0006243Phalangeal dislocation0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0006243HP:0006243Phalangeal dislocation0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325


Genes (7) :AEBP1 B3GALT6 B4GALT7 CANT1 COL1A1 COL5A1 COL5A2

Diseases (5) :ORPHA:536532 ORPHA:536467 OMIM:130070 OMIM:251450 ORPHA:287
 

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