Human Phenotype Ontology 
Grandparent Node:
expandHyperreflexia (HP:0001347)help
Grandparent Node:
expandInvoluntary movements (HP:0004305)help
Parent Node:
expandClonus (HP:0002169)help
..Starting node
..expandKnee clonus (HP:0011449)help
Term ID: 11449
Name: Knee clonus
Synonym: Patellar clonus
Definition: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.
Comments:
Reference: HP:0011449
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnkle clonus (HP:0011448) help
..expandElbow clonus (HP:0011728) 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:0011449HP:0011449Knee clonus0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0011449HP:0011449Knee clonus0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0011449HP:0011449Knee clonus0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0011449HP:0011449Knee clonus0RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0011449HP:0011449Knee clonus0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0011449HP:0011449Knee clonus0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0011449HP:0011449Knee clonus0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287


Genes (7) :GBA2 KIF5A MTRFR RTN2 SLC52A3 SPART SPG11

Diseases (7) :OMIM:614409 OMIM:604187 OMIM:615035 OMIM:604805 OMIM:211530 OMIM:275900 OMIM:604360
 

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