Human Phenotype Ontology 
Grandparent Node:
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Gait disturbance (HP:0001288)help
Parent Node:
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Shuffling gait (HP:0002362)help
..Starting node
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Short stepped shuffling gait (HP:0007311)help
Term ID: 7311
Name: Short stepped shuffling gait
Synonym: Short stepped shuffling walk
Definition:
Comments:
Reference: HP:0007311
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:0007311HP:0007311Short stepped shuffling gait0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0007311HP:0007311Short stepped shuffling gait0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0007311HP:0007311Short stepped shuffling gait0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0007311HP:0007311Short stepped shuffling gait0COL2A1 CL E G H12802200ORPHA:86820Familial avascular necrosis of femoral headHP:0040282 - Frequent284
HP:0007311HP:0007311Short stepped shuffling gait0DCTN1 CL E G H16392711OMIM:168605Perry syndrome.86
HP:0007311HP:0007311Short stepped shuffling gait0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0007311HP:0007311Short stepped shuffling gait0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0007311HP:0007311Short stepped shuffling gait0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0007311HP:0007311Short stepped shuffling gait0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0007311HP:0007311Short stepped shuffling gait0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040283 - Occasional140
HP:0007311HP:0007311Short stepped shuffling gait0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0007311HP:0007311Short stepped shuffling gait0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0007311HP:0007311Short stepped shuffling gait0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0007311HP:0007311Short stepped shuffling gait0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0007311HP:0007311Short stepped shuffling gait0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent9
HP:0007311HP:0007311Short stepped shuffling gait0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0007311HP:0007311Short stepped shuffling gait0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0007311HP:0007311Short stepped shuffling gait0TRPV4 CL E G H5934118083ORPHA:86820Familial avascular necrosis of femoral headHP:0040282 - Frequent214


Genes (17) :ADH1C ATXN2 ATXN8OS COL2A1 DCTN1 DNAJC6 GBA1 GLUD2 MAPT NR4A2 PODXL PRKAR1B SNCAIP SYNJ1 TBP TRNT TRPV4

Diseases (6) :OMIM:168600 ORPHA:86820 OMIM:168605 ORPHA:391411 ORPHA:240094 ORPHA:412066
 

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