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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Mobility Limitation
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Accession:DOID:9007114 term browser browse the term
Definition:Difficulty in walking from place to place.
Synonyms:exact_synonym: Ambulation Difficulties;   Ambulation Difficulty;   Ambulatory Difficulties;   Ambulatory Difficulty;   Difficulty Walking;   Mobility Limitations
 primary_id: MESH:D051346


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Mobility Limitation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597
JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 More... NCBI chr 2:89,724,355...89,758,389
Ensembl chr 2:89,737,003...89,758,425
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr25:55,334,669...55,367,257
Ensembl chr25:55,332,340...55,367,248
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:14506069 PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 More... NCBI chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 NCBI chr 2:14,510,176...14,623,054
Ensembl chr 2:14,510,464...14,619,023
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:25741868 PMID:32666583 NCBI chr20:88,875,525...89,108,001 JBrowse link

Term paths to the root
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Term Annotations click to browse term
  disease 15344
    Pathological Conditions, Signs and Symptoms 11969
      Signs and Symptoms 10013
        Mobility Limitation 7
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