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
Accession: DOID:9007114
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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Capn3
calpain 3
ISO
ClinVar Annotator: match by term: Difficulty walking
ClinVar
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16650086 PMID:17157502 PMID:17236769 PMID:17318636 PMID:17702496 PMID:17979987 PMID:18055493 PMID:20301490 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24803842 PMID:25135358 PMID:25741868 PMID:26301378 PMID:26404900 PMID:26467025 PMID:26484845 PMID:27142102 PMID:27708273 PMID:27884173 PMID:28492532 PMID:28877744 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31263448 PMID:31517061 PMID:31788660 More...
NCBI chr 2:120,294,074...120,335,400
Ensembl chr 2:120,294,053...120,335,399
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Col6a2
collagen, type VI, alpha 2
ISO
ClinVar Annotator: match by term: Difficulty walking
ClinVar
PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 More...
NCBI chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464
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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 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228
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Fkrp
fukutin related protein
ISO
ClinVar Annotator: match by term: Difficulty walking
ClinVar
PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31268217 PMID:34008892 PMID:34653404 More...
NCBI chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657
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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 PMID:28492532 More...
NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017
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Kcnb1
potassium voltage gated channel, Shab-related subfamily, member 1
ISO
ClinVar Annotator: match by term: Difficulty walking
ClinVar
PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514
NCBI chr 2:166,937,889...167,032,088
Ensembl chr 2:166,937,889...167,032,075
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St3gal3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ISO
ClinVar Annotator: match by term: Difficulty walking
ClinVar
PMID:25741868 PMID:32666583
NCBI chr 4:117,789,349...117,992,169
Ensembl chr 4:117,789,351...117,992,111
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