Human Phenotype Ontology 
Grandparent Node:
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Peripheral neuropathy (HP:0009830)help
Parent Node:
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Somatic sensory dysfunction (HP:0003474)help
..Starting node
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Impaired vibratory sensation (HP:0002495)help
Term ID: 2495
Name: Impaired vibratory sensation
Synonym: Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense
Definition: A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Comments:
Reference: HP:0002495
Genes and Diseases:
 
       Child Nodes:
........expandImpaired vibration sensation in the lower limbs (HP:0002166) help
................... HP:0006938 Impaired vibration sensation at ankles
........expandImpaired distal vibration sensation (HP:0006886) help
................... HP:0006938 Impaired vibration sensation at ankles
........expandAbolished vibration sense (HP:0006944) help

 Sister Nodes: 
..expandAbnormality of pain sensation (HP:0010832) help
..expandDissociated sensory loss (HP:0010835) help
..expandDistal sensory impairment (HP:0002936) help
..expandImpaired proprioception (HP:0010831) help
..expandImpaired tactile sensation (HP:0010830) help
..expandImpaired temperature sensation (HP:0010829) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002495HP:0002495Impaired vibratory sensation0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002495HP:0002495Impaired vibratory sensation0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002495HP:0002495Impaired vibratory sensation0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002495HP:0002495Impaired vibratory sensation0BSCL2 CL E G H26580139536ORPHA143515832606158
HP:0002495HP:0002495Impaired vibratory sensation0C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0002495HP:0002495Impaired vibratory sensation0CYP7B1 CL E G H9420100986ORPHA13332652603711
HP:0002495HP:0002495Impaired vibratory sensation0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11433951606829
HP:0002495HP:0002495Impaired vibratory sensation0GARS CL E G H2617139536ORPHA14162600287
HP:0002495HP:0002495Impaired vibratory sensation0MAG CL E G H4099459056ORPHA11716783159460
HP:0002495HP:0002495Impaired vibratory sensation0MFN2 CL E G H992799947ORPHA1106316877608507
HP:0002495HP:0002495Impaired vibratory sensation0NIPA1 CL E G H123606100988ORPHA157617043608145
HP:0002495HP:0002495Impaired vibratory sensation0PLEKHG4 CL E G H2589498765ORPHA14124501609526
HP:0002495HP:0002495Impaired vibratory sensation0POLG CL E G H542870595ORPHA119179179174763
HP:0002495HP:0002495Impaired vibratory sensation0POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0002495HP:0002495Impaired vibratory sensation0REEP1 CL E G H65055139536ORPHA137725786609139
HP:0002495HP:0002495Impaired vibratory sensation0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM110210535607690
HP:0002495HP:0002495Impaired vibratory sensation0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM134310985603861
HP:0002495HP:0002495Impaired vibratory sensation0SPART CL E G H23111101000ORPHA127418514607111
HP:0002495HP:0002495Impaired vibratory sensation0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM171611276604985
HP:0002495HP:0002495Impaired vibratory sensation0TPP1 CL E G H1200284324ORPHA18492073607998
HP:0002495HP:0002495Impaired vibratory sensation0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM18492073607998
HP:0002495HP:0002495Impaired vibratory sensation0TWNK CL E G H5665270595ORPHA13081160606075
HP:0002495HP:0006944Abolished vibration sense1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002495HP:0006886Impaired distal vibration sensation1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002495HP:0006886Impaired distal vibration sensation1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002495HP:0006944Abolished vibration sense1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002495HP:0006886Impaired distal vibration sensation1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002495HP:0006944Abolished vibration sense1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002495HP:0006944Abolished vibration sense1BSCL2 CL E G H26580139536ORPHA143515832606158
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1BSCL2 CL E G H26580139536ORPHA143515832606158
HP:0002495HP:0006886Impaired distal vibration sensation1BSCL2 CL E G H26580139536ORPHA143515832606158
HP:0002495HP:0006886Impaired distal vibration sensation1C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0002495HP:0006944Abolished vibration sense1C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0002495HP:0006944Abolished vibration sense1CYP7B1 CL E G H9420100986ORPHA13332652603711
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1CYP7B1 CL E G H9420100986ORPHA13332652603711
HP:0002495HP:0006886Impaired distal vibration sensation1CYP7B1 CL E G H9420100986ORPHA13332652603711
HP:0002495HP:0006886Impaired distal vibration sensation1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11433951606829
HP:0002495HP:0006944Abolished vibration sense1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11433951606829
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11433951606829
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1GARS CL E G H2617139536ORPHA14162600287
HP:0002495HP:0006886Impaired distal vibration sensation1GARS CL E G H2617139536ORPHA14162600287
HP:0002495HP:0006944Abolished vibration sense1GARS CL E G H2617139536ORPHA14162600287
HP:0002495HP:0006886Impaired distal vibration sensation1MAG CL E G H4099459056ORPHA11716783159460
HP:0002495HP:0006944Abolished vibration sense1MAG CL E G H4099459056ORPHA11716783159460
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1MAG CL E G H4099459056ORPHA11716783159460
HP:0002495HP:0006886Impaired distal vibration sensation1MFN2 CL E G H992799947ORPHA1106316877608507
HP:0002495HP:0006944Abolished vibration sense1MFN2 CL E G H992799947ORPHA1106316877608507
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1MFN2 CL E G H992799947ORPHA1106316877608507
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1NIPA1 CL E G H123606100988ORPHA157617043608145
HP:0002495HP:0006886Impaired distal vibration sensation1NIPA1 CL E G H123606100988ORPHA157617043608145
HP:0002495HP:0006944Abolished vibration sense1NIPA1 CL E G H123606100988ORPHA157617043608145
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1PLEKHG4 CL E G H2589498765ORPHA14124501609526
HP:0002495HP:0006886Impaired distal vibration sensation1PLEKHG4 CL E G H2589498765ORPHA14124501609526
HP:0002495HP:0006944Abolished vibration sense1PLEKHG4 CL E G H2589498765ORPHA14124501609526
HP:0002495HP:0006944Abolished vibration sense1POLG CL E G H542870595ORPHA119179179174763
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1POLG CL E G H542870595ORPHA119179179174763
HP:0002495HP:0006886Impaired distal vibration sensation1POLG CL E G H542870595ORPHA119179179174763
HP:0002495HP:0006886Impaired distal vibration sensation1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0002495HP:0006944Abolished vibration sense1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0002495HP:0006886Impaired distal vibration sensation1REEP1 CL E G H65055139536ORPHA137725786609139
HP:0002495HP:0006944Abolished vibration sense1REEP1 CL E G H65055139536ORPHA137725786609139
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1REEP1 CL E G H65055139536ORPHA137725786609139
HP:0002495HP:0006944Abolished vibration sense1SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM110210535607690
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM110210535607690
HP:0002495HP:0006886Impaired distal vibration sensation1SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM110210535607690
HP:0002495HP:0006886Impaired distal vibration sensation1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM134310985603861
HP:0002495HP:0006944Abolished vibration sense1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM134310985603861
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM134310985603861
HP:0002495HP:0006886Impaired distal vibration sensation1SPART CL E G H23111101000ORPHA127418514607111
HP:0002495HP:0006944Abolished vibration sense1SPART CL E G H23111101000ORPHA127418514607111
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1SPART CL E G H23111101000ORPHA127418514607111
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM171611276604985
HP:0002495HP:0006886Impaired distal vibration sensation1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM171611276604985
HP:0002495HP:0006944Abolished vibration sense1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM171611276604985
HP:0002495HP:0006944Abolished vibration sense1TPP1 CL E G H1200284324ORPHA18492073607998
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1TPP1 CL E G H1200284324ORPHA18492073607998
HP:0002495HP:0006886Impaired distal vibration sensation1TPP1 CL E G H1200284324ORPHA18492073607998
HP:0002495HP:0006886Impaired distal vibration sensation1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM18492073607998
HP:0002495HP:0006944Abolished vibration sense1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM18492073607998
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM18492073607998
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1TWNK CL E G H5665270595ORPHA13081160606075
HP:0002495HP:0006886Impaired distal vibration sensation1TWNK CL E G H5665270595ORPHA13081160606075
HP:0002495HP:0006944Abolished vibration sense1TWNK CL E G H5665270595ORPHA13081160606075
HP:0002495HP:0006938Impaired vibration sensation at ankles2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002495HP:0006938Impaired vibration sensation at ankles2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002495HP:0006938Impaired vibration sensation at ankles2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002495HP:0006938Impaired vibration sensation at ankles2BSCL2 CL E G H26580139536ORPHA143515832606158
HP:0002495HP:0006938Impaired vibration sensation at ankles2C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0002495HP:0006938Impaired vibration sensation at ankles2CYP7B1 CL E G H9420100986ORPHA13332652603711
HP:0002495HP:0006938Impaired vibration sensation at ankles2FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11433951606829
HP:0002495HP:0006938Impaired vibration sensation at ankles2GARS CL E G H2617139536ORPHA14162600287
HP:0002495HP:0006938Impaired vibration sensation at ankles2MAG CL E G H4099459056ORPHA11716783159460
HP:0002495HP:0006938Impaired vibration sensation at ankles2MFN2 CL E G H992799947ORPHA1106316877608507
HP:0002495HP:0006938Impaired vibration sensation at ankles2NIPA1 CL E G H123606100988ORPHA157617043608145
HP:0002495HP:0006938Impaired vibration sensation at ankles2PLEKHG4 CL E G H2589498765ORPHA14124501609526
HP:0002495HP:0006938Impaired vibration sensation at ankles2POLG CL E G H542870595ORPHA119179179174763
HP:0002495HP:0006938Impaired vibration sensation at ankles2POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0002495HP:0006938Impaired vibration sensation at ankles2REEP1 CL E G H65055139536ORPHA137725786609139
HP:0002495HP:0006938Impaired vibration sensation at ankles2SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM110210535607690
HP:0002495HP:0006938Impaired vibration sensation at ankles2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM134310985603861
HP:0002495HP:0006938Impaired vibration sensation at ankles2SPART CL E G H23111101000ORPHA127418514607111
HP:0002495HP:0006938Impaired vibration sensation at ankles2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM171611276604985
HP:0002495HP:0006938Impaired vibration sensation at ankles2TPP1 CL E G H1200284324ORPHA18492073607998
HP:0002495HP:0006938Impaired vibration sensation at ankles2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM18492073607998
HP:0002495HP:0006938Impaired vibration sensation at ankles2TWNK CL E G H5665270595ORPHA13081160606075
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002495HP:0002495Impaired vibratory sensation0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM04379722138250
HP:0002495HP:0002495Impaired vibratory sensation0ATL1 CL E G H51062100984ORPHA040811231606439
HP:0002495HP:0002495Impaired vibratory sensation0ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002495HP:0002495Impaired vibratory sensation0ATXN8OS CL E G H631598760ORPHA07910561603680
HP:0002495HP:0002495Impaired vibratory sensation0BEAN1 CL E G H146227217012ORPHA03524160612051
HP:0002495HP:0002495Impaired vibratory sensation0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02083671601515
HP:0002495HP:0002495Impaired vibratory sensation0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0002495HP:0002495Impaired vibratory sensation0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM04657737162230
HP:0002495HP:0002495Impaired vibratory sensation0SACS CL E G H2627898ORPHA0250610519604490
HP:0002495HP:0002495Impaired vibratory sensation0VPS37A CL E G H137492319199ORPHA019824928609927
HP:0002495HP:0002495Impaired vibratory sensation0ZFYVE26 CL E G H23503100996ORPHA0189420761612012
HP:0002495HP:0006886Impaired distal vibration sensation1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM04379722138250
HP:0002495HP:0006944Abolished vibration sense1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM04379722138250
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM04379722138250
HP:0002495HP:0006886Impaired distal vibration sensation1ATL1 CL E G H51062100984ORPHA040811231606439
HP:0002495HP:0006944Abolished vibration sense1ATL1 CL E G H51062100984ORPHA040811231606439
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1ATL1 CL E G H51062100984ORPHA040811231606439
HP:0002495HP:0006886Impaired distal vibration sensation1ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002495HP:0006944Abolished vibration sense1ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002495HP:0006944Abolished vibration sense1ATXN8OS CL E G H631598760ORPHA07910561603680
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1ATXN8OS CL E G H631598760ORPHA07910561603680
HP:0002495HP:0006886Impaired distal vibration sensation1ATXN8OS CL E G H631598760ORPHA07910561603680
HP:0002495HP:0006886Impaired distal vibration sensation1BEAN1 CL E G H146227217012ORPHA03524160612051
HP:0002495HP:0006944Abolished vibration sense1BEAN1 CL E G H146227217012ORPHA03524160612051
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1BEAN1 CL E G H146227217012ORPHA03524160612051
HP:0002495HP:0006944Abolished vibration sense1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02083671601515
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02083671601515
HP:0002495HP:0006886Impaired distal vibration sensation1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02083671601515
HP:0002495HP:0006886Impaired distal vibration sensation1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0002495HP:0006944Abolished vibration sense1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM04657737162230
HP:0002495HP:0006886Impaired distal vibration sensation1NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM04657737162230
HP:0002495HP:0006944Abolished vibration sense1NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM04657737162230
HP:0002495HP:0006886Impaired distal vibration sensation1SACS CL E G H2627898ORPHA0250610519604490
HP:0002495HP:0006944Abolished vibration sense1SACS CL E G H2627898ORPHA0250610519604490
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1SACS CL E G H2627898ORPHA0250610519604490
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1VPS37A CL E G H137492319199ORPHA019824928609927
HP:0002495HP:0006886Impaired distal vibration sensation1VPS37A CL E G H137492319199ORPHA019824928609927
HP:0002495HP:0006944Abolished vibration sense1VPS37A CL E G H137492319199ORPHA019824928609927
HP:0002495HP:0006886Impaired distal vibration sensation1ZFYVE26 CL E G H23503100996ORPHA0189420761612012
HP:0002495HP:0006944Abolished vibration sense1ZFYVE26 CL E G H23503100996ORPHA0189420761612012
HP:0002495HP:0002166Impaired vibration sensation in the lower limbs1ZFYVE26 CL E G H23503100996ORPHA0189420761612012
HP:0002495HP:0006938Impaired vibration sensation at ankles2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM04379722138250
HP:0002495HP:0006938Impaired vibration sensation at ankles2ATL1 CL E G H51062100984ORPHA040811231606439
HP:0002495HP:0006938Impaired vibration sensation at ankles2ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002495HP:0006938Impaired vibration sensation at ankles2ATXN8OS CL E G H631598760ORPHA07910561603680
HP:0002495HP:0006938Impaired vibration sensation at ankles2BEAN1 CL E G H146227217012ORPHA03524160612051
HP:0002495HP:0006938Impaired vibration sensation at ankles2FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02083671601515
HP:0002495HP:0006938Impaired vibration sensation at ankles2MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0002495HP:0006938Impaired vibration sensation at ankles2NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM04657737162230
HP:0002495HP:0006938Impaired vibration sensation at ankles2SACS CL E G H2627898ORPHA0250610519604490
HP:0002495HP:0006938Impaired vibration sensation at ankles2VPS37A CL E G H137492319199ORPHA019824928609927
HP:0002495HP:0006938Impaired vibration sensation at ankles2ZFYVE26 CL E G H23503100996ORPHA0189420761612012


Genes (72) :ALDH18A1 ARSI ATL1 ATP6 ATXN1 ATXN2 ATXN3 ATXN8 ATXN8OS B4GALNT1 BEAN1 BSCL2 C19ORF12 C19orf12 CACNA1G CPT1C CYP7B1 DCAF8 DDHD1 FGF14 FLRT1 FLVCR1 FMR1 FXN GARS GBA2 GCH1 HARS HINT1 HSPD1 KCNC3 KCND3 KIF5A KLC2 KLHL9 LRSAM1 MAG MFN2 NEFH NIPA1 PDYN PEX6 PLEKHG4 POLG POLR3A PRKCG REEP1 REEP2 RTN2 SACS SAMD9L SAR1B SCO2 SETX SLC25A15 SLC33A1 SLC52A2 SPART SPAST SPG11 SPG7 SPTBN2 TDP1 TPP1 TRNE TWNK VAMP1 VCP VPS37A WASHC5 WDR48 ZFYVE26

Diseases (87) :601162 100984 164400 183090 109150 98760 217012 139536 320370 100986 609307 229300 459056 99947 616924 100988 98765 70595 94125 98 246700 238970 101000 600224 284324 609270 2596 319199 100996 447753 401815 182600 320360 270685 444099 270800 610100 101008 320406 88628 609033 300623 352641 614409 98808 488333 324442 100994 605280 98768 604187 399081 614436 600363 101108 610245 95433 157640 258450 607459 447896 100993 604805 270550 159550 521411 606002 171863 182601 604360 99013 607259 94124 251282 435387 100989 603563 401800 447760 101006 458803 616795 320391 98772 605361 401849 100985
 

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