Human Phenotype
Ontology
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Grandparent Node: Abnormality of the lower limb (HP:0002814) | Grandparent Node: Areflexia (HP:0001284) | Parent Node: Areflexia of lower limbs (HP:0002522) | ..Starting node ..Absent patellar reflexes (HP:0006844)
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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: |
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Reference: |
HP:0006844 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Decreased/absent ankle reflexes (HP:0200101)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | HP:0040283 - Occasional | | | 2 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040282 - Frequent | | | 3 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040283 - Occasional | | | 144 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040283 - Occasional | | | 203 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | | | | 227 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | | HP:0006844 | HP:0006844 | Absent patellar reflexes | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
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.
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