Human Phenotype Ontology 
Grandparent Node:
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Hyperreflexia (HP:0001347)help
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Abnormality of the ankles (HP:0003028)help
Parent Node:
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Abnormality of the knee (HP:0002815)help
Parent Node:
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Clonus (HP:0002169)help
..Starting node
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Ankle clonus (HP:0011448)help
Term ID: 11448
Name: Ankle clonus
Synonym: Abnormal rhythmic movements of ankle
Definition: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Comments:
Reference: HP:0011448
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElbow clonus (HP:0011728) help
..expandKnee clonus (HP:0011449) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011448HP:0011448Ankle clonus0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM16254512604110
HP:0011448HP:0011448Ankle clonus0ANO10 CL E G H55129284289ORPHA124025519613726
HP:0011448HP:0011448Ankle clonus0ATL1 CL E G H51062100984ORPHA140811231606439
HP:0011448HP:0011448Ankle clonus0CYP7B1 CL E G H9420100986ORPHA13332652603711
HP:0011448HP:0011448Ankle clonus0FA2H CL E G H79152171629ORPHA131221197611026
HP:0011448HP:0011448Ankle clonus0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM127718986609471
HP:0011448HP:0011448Ankle clonus0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0011448HP:0011448Ankle clonus0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12132888601255
HP:0011448HP:0011448Ankle clonus0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM17446323602821
HP:0011448HP:0011448Ankle clonus0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM116114938610272
HP:0011448HP:0011448Ankle clonus0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM118014244602207
HP:0011448HP:0011448Ankle clonus0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM137725786609139
HP:0011448HP:0011448Ankle clonus0RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM118410468603183
HP:0011448HP:0011448Ankle clonus0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM13791349611170
HP:0011448HP:0011448Ankle clonus0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM117620858608736
HP:0011448HP:0011448Ankle clonus0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0011448HP:0011448Ankle clonus0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM127418514607111
HP:0011448HP:0011448Ankle clonus0SPAST CL E G H6683100985ORPHA1101411233604277
HP:0011448HP:0011448Ankle clonus0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1216511226610844
HP:0011448HP:0011448Ankle clonus0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM111112513191342
HP:0011448HP:0011448Ankle clonus0ZFYVE27 CL E G H118813610244Spastic paraplegia 33, autosomal dominant610244C1853251OMIM115426559610243
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011448HP:0011448Ankle clonus0ATP6AP2 CL E G H10159363654ORPHA030318305300556
HP:0011448HP:0011448Ankle clonus0CAPN1 CL E G H823488594ORPHA01241476114220
HP:0011448HP:0011448Ankle clonus0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM031221197611026
HP:0011448HP:0011448Ankle clonus0SPART CL E G H23111101000ORPHA027418514607111
HP:0011448HP:0011448Ankle clonus0STUB1 CL E G H10273412057ORPHA017011427607207
HP:0011448HP:0011448Ankle clonus0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM017011427607207


Genes (24) :ADGRG1 ANO10 ATL1 ATP6AP2 CAPN1 CYP7B1 FA2H GBA2 HTT KIF1A KIF5A PIGT RAB18 REEP1 RTN2 SAMD9L SLC39A14 SLC52A3 SPART SPAST SPG11 STUB1 UCHL1 ZFYVE27

Diseases (27) :606854 284289 100984 363654 488594 100986 171629 612319 614409 617435 610357 604187 615398 614222 610250 604805 159550 617013 211530 101000 275900 100985 604360 412057 615768 615491 610244
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.