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 thumb morphology (HP:0001172)help
Parent Node:
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Flexion contracture of finger (HP:0012785)help
..Starting node
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Flexion contracture of thumb (HP:0009600)help
Term ID: 9600
Name: Flexion contracture of thumb
Synonym: Contracture of thumb; Flexion deformities of thumbs; Joint contractures of the thumb
Definition: Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.
Comments:
Reference: HP:0009600
Genes and Diseases:
 
       Child Nodes:
........expandContractures of the carpometacarpal joint of the thumb (HP:0009624) help
........expandContractures of the metacarpophalangeal joint of the thumb (HP:0009625) help
........expandContractures of the interphalangeal joint of the thumb (HP:0009626) help

 Sister Nodes: 
..expandFlexion contracture of the 2nd finger (HP:0009537) help
..expandInterphalangeal joint contracture of finger (HP:0001220) help
..expandJoint contracture of the 3rd finger (HP:0009319) 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:0009600HP:0009600Flexion contracture of thumb0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0009600HP:0009600Flexion contracture of thumb0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0009600HP:0009600Flexion contracture of thumb0ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction13
HP:0009600HP:0009600Flexion contracture of thumb0L1CAM CL E G H38976470OMIM:307000Hydrocephalus due to congenital stenosis of aqueduct of sylvius134
HP:0009600HP:0009600Flexion contracture of thumb0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0009600HP:0009600Flexion contracture of thumb0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0009600HP:0009625Contractures of the metacarpophalangeal joint of the thumb1 CL E G H
HP:0009600HP:0009624Contractures of the carpometacarpal joint of the thumb1 CL E G H
HP:0009600HP:0009626Contractures of the interphalangeal joint of the thumb1ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction.13


Genes (6) :BMP4 DLK1 ECE1 L1CAM MEG3 RTL1

Diseases (4) :OMIM:607932 ORPHA:96334 OMIM:613870 OMIM:307000
 

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