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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;   RDO:0007581
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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, PMID:14981715, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:20635405, PMID:21204801, PMID:21984748, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:8533761, PMID:8845168, PMID:10737121, PMID:12163078, PMID:25741868, PMID:25749817, PMID:26467025, PMID:28492532, PMID:29606556, PMID:30311386 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:19309692, PMID:20576434, PMID:20976770, PMID:21280092, PMID:24033266, PMID:24314752, PMID:25535305, PMID:25741868, PMID:26467025, PMID:27447704, PMID:28492532 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:23352160, PMID:23871722, PMID:26467025, PMID:26743743, PMID:26990548, PMID:28492532, PMID:30311386, PMID:30415094 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:26467025, PMID:28492532, PMID:29650794, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
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, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16634037, PMID:16786213, PMID:17554798, PMID:18060779, PMID:18593008, PMID:18639457, PMID:19820980, PMID:19835634, PMID:19900540, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22981120, PMID:23576288, PMID:23591631, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:28492532, PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:14506069, PMID:14681881, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:30311386 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:15464186, PMID:25565308, PMID:27588448, PMID:28492532, PMID:30311386 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:19626676, PMID:22577227, PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:30311386 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:30311386 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:30311386 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Difficulty walking ClinVar PMID:30311386 NCBI chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Signs and Symptoms 5266
        Mobility Limitation 19
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.