Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the 4th toe (HP:0010321)help
Grandparent Node:
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Flexion contracture of toe (HP:0005830)help
Parent Node:
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Camptodactyly of toe (HP:0001836)help
Parent Node:
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Flexion contracture of the 4th toe (HP:0010339)help
..Starting node
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Contracture of the proximal interphalangeal joint of the 4th toe (HP:0100350)help
Term ID: 100350
Name: Contracture of the proximal interphalangeal joint of the 4th toe
Synonym: Camptodactyly of the 4th toe; Camptodactyly of the fourth toe; Contracture of the innermost hinge joint of the 4th toe
Definition: The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.
Comments:
Reference: HP:0100350
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandContracture of the distal interphalangeal joint of the 4th toe (HP:0100354) help
..expandContracture of the metatarsophalangeal joint of the 4th toe (HP:0100358) 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:0100350HP:0100350Contracture of the proximal interphalangeal joint of the 4th toe0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10


Genes (1) :PPP2R5D

Diseases (1) :ORPHA:457279
 

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