Human Phenotype Ontology 
Grandparent Node:
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Impaired vibratory sensation (HP:0002495)help
Parent Node:
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Impaired distal vibration sensation (HP:0006886)help
Parent Node:
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Impaired vibration sensation in the lower limbs (HP:0002166)help
..Starting node
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Impaired vibration sensation at ankles (HP:0006938)help
Term ID: 6938
Name: Impaired vibration sensation at ankles
Synonym: Decreased vibration sense at ankles; Decreased vibration sense in feet; Impaired vibration sensation at ankles
Definition: A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.
Comments:
Reference: HP:0006938
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006938HP:0006938Impaired vibration sensation at ankles0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0006938HP:0006938Impaired vibration sensation at ankles0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0006938HP:0006938Impaired vibration sensation at ankles0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0006938HP:0006938Impaired vibration sensation at ankles0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040283 - Occasional25
HP:0006938HP:0006938Impaired vibration sensation at ankles0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0006938HP:0006938Impaired vibration sensation at ankles0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040282 - Frequent32
HP:0006938HP:0006938Impaired vibration sensation at ankles0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0006938HP:0006938Impaired vibration sensation at ankles0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040282 - Frequent35
HP:0006938HP:0006938Impaired vibration sensation at ankles0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0006938HP:0006938Impaired vibration sensation at ankles0REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 72HP:0040283 - Occasional3
HP:0006938HP:0006938Impaired vibration sensation at ankles0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0006938HP:0006938Impaired vibration sensation at ankles0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0006938HP:0006938Impaired vibration sensation at ankles0XK CL E G H750412811OMIM:300842Mcleod syndrome8


Genes (12) :ABCD1 ALDH18A1 AMPD2 B4GALNT1 CACNA1G GBA2 KCND3 PRKCG REEP2 SPAST UCHL1 XK

Diseases (13) :OMIM:300100 ORPHA:447760 OMIM:615686 ORPHA:101006 OMIM:616795 ORPHA:458803 ORPHA:320391 ORPHA:98772 OMIM:605361 ORPHA:401849 ORPHA:100985 OMIM:615491 OMIM:300842
 

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