Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal 2nd finger morphology (HP:0004100)help
Grandparent Node:
expand
Flexion contracture of finger (HP:0012785)help
Parent Node:
expand
Camptodactyly of finger (HP:0100490)help
Parent Node:
expand
Flexion contracture of the 2nd finger (HP:0009537)help
..Starting node
..expand
Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)help
Term ID: 9540
Name: Contracture of the proximal interphalangeal joint of the 2nd finger
Synonym: Camptodactyly of 2nd finger; Camptodactyly of index finger; Camptodactyly of second finger
Definition: Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
Comments:
Reference: HP:0009540
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandContracture of the distal interphalangeal joint of the 2nd finger (HP:0009538) help
..expandContracture of the metacarpophalangeal joint of the 2nd finger (HP:0009539) 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:0009540HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger0LFNG CL E G H39556560OMIM:609813Spondylocostal dysostosis 3, autosomal recessive13
HP:0009540HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0009540HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510


Genes (3) :LFNG PLOD3 RPL10

Diseases (3) :OMIM:609813 OMIM:612394 OMIM:300998
 

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