Human Phenotype Ontology 
Grandparent Node:
expandFlexion contracture of digit (HP:0030044)help
Grandparent Node:
expandJoint contracture of the hand (HP:0009473)help
Parent Node:
expandAbnormal 3rd finger morphology (HP:0004150)help
Parent Node:
expandFlexion contracture of finger (HP:0012785)help
..Starting node
..expandJoint contracture of the 3rd finger (HP:0009319)help
Term ID: 9319
Name: Joint contracture of the 3rd finger
Synonym: Camptodactyly of middle finger
Definition: Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.
Comments:
Reference: HP:0009319
Genes and Diseases:
 
       Child Nodes:
........expandContracture of the distal interphalangeal joint of the 3rd finger (HP:0009469) help
........expandContracture of the metacarpophalangeal joint of the 3rd finger (HP:0009470) help
........expandContracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471) help

 Sister Nodes: 
..expandFlexion contracture of the 2nd finger (HP:0009537) help
..expandFlexion contracture of thumb (HP:0009600) help
..expandInterphalangeal joint contracture of finger (HP:0001220) help
..expandJoint contracture of the 4th finger (HP:0009274) help
..expandJoint contracture of the 5th finger (HP:0009183) 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:0009319HP:0009319Joint contracture of the 3rd finger0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0009319HP:0009319Joint contracture of the 3rd finger0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0009319HP:0009319Joint contracture of the 3rd finger0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0009319HP:0009319Joint contracture of the 3rd finger0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0009319HP:0009470Contracture of the metacarpophalangeal joint of the 3rd finger1 CL E G H
HP:0009319HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger1 CL E G H
HP:0009319HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0009319HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger1PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0009319HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0009319HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135


Genes (4) :MED25 PLOD3 SLC26A2 SMC1A

Diseases (4) :ORPHA:464738 OMIM:612394 ORPHA:93307 OMIM:301044
 

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