Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the lower limb (HP:0002814)help
Grandparent Node:
expand
Areflexia (HP:0001284)help
Parent Node:
expand
Areflexia of lower limbs (HP:0002522)help
..Starting node
..expand
Absent patellar reflexes (HP:0006844)help
Term ID: 6844
Name: Absent patellar reflexes
Synonym: Absent knee jerk reflex
Definition: Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
Comments:
Reference: HP:0006844
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased/absent ankle reflexes (HP:0200101) 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:0006844HP:0006844Absent patellar reflexes0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessiveHP:0040283 - Occasional2
HP:0006844HP:0006844Absent patellar reflexes0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0006844HP:0006844Absent patellar reflexes0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0006844HP:0006844Absent patellar reflexes0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040282 - Frequent3
HP:0006844HP:0006844Absent patellar reflexes0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040283 - Occasional144
HP:0006844HP:0006844Absent patellar reflexes0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0006844HP:0006844Absent patellar reflexes0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0006844HP:0006844Absent patellar reflexes0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0006844HP:0006844Absent patellar reflexes0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0006844HP:0006844Absent patellar reflexes0PSMC1 CL E G H57009547OMIM:6200711
HP:0006844HP:0006844Absent patellar reflexes0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0006844HP:0006844Absent patellar reflexes0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1


Genes (11) :ERLIN1 FBLN5 HSPB3 KLHL9 LIFR MFN2 MYH14 PMP2 PSMC1 SMN1 SMN2

Diseases (11) :OMIM:615681 OMIM:619764 OMIM:613376 ORPHA:399081 ORPHA:3206 OMIM:601559 ORPHA:99947 OMIM:614369 OMIM:618279 OMIM:620071 OMIM:253400
 

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