Human Phenotype Ontology 
Grandparent Node:
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Flexion contracture of digit (HP:0030044)help
Grandparent Node:
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Joint contracture of the hand (HP:0009473)help
Parent Node:
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Abnormal 4th finger morphology (HP:0004188)help
Parent Node:
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Flexion contracture of finger (HP:0012785)help
..Starting node
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Joint contracture of the 4th finger (HP:0009274)help
Term ID: 9274
Name: Joint contracture of the 4th finger
Synonym: Joint contractures of the fourth finger
Definition: Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.
Comments:
Reference: HP:0009274
Genes and Diseases:
 
       Child Nodes:
........expandContracture of the distal interphalangeal joint of the 4th finger (HP:0009275) help
........expandContracture of the proximal interphalangeal joint of the 4th finger (HP:0009276) help
........expandContracture of the metacarpophalangeal joint of the 4th finger (HP:0009277) 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 3rd finger (HP:0009319) 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:0009274HP:0009274Joint contracture of the 4th finger0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0009274HP:0009274Joint contracture of the 4th finger0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0009274HP:0009274Joint contracture of the 4th finger0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0009274HP:0009274Joint contracture of the 4th finger0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009274HP:0009274Joint contracture of the 4th finger0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0009274HP:0009277Contracture of the metacarpophalangeal joint of the 4th finger1 CL E G H
HP:0009274HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0009274HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0009274HP:0009275Contracture of the distal interphalangeal joint of the 4th finger1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009274HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger1TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571


Genes (5) :ASXL3 FBXW11 KDM5B SIN3A TLK2

Diseases (5) :OMIM:615485 OMIM:618914 OMIM:618109 OMIM:613406 OMIM:618050
 

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