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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:myotonic dystrophy type 1
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Accession:DOID:11722 term browser browse the term
Definition:A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. (DO)
Synonyms:exact_synonym: DM;   DM1;   Myotonia Dystrophica;   Myotonic Dystrophy 1;   PROMM;   PROMM (Proximal Myotonic Myopathy);   Proximal Myotonic Myopathies;   Ricker syndrome;   Steinert disease;   Steinert myotonic dystrophy;   Steinert myotonic dystrophy syndrome;   Steinert's disease;   Steinerts disease;   congenital myotonic dystrophies;   congenital myotonic dystrophy;   dystrophia myotonica;   dystrophia myotonica 1;   myotonia atrophica;   myotonic dystrophies;   myotonic dystrophy of Steinert;   proximal myotonic myopathy
 alt_id: OMIM:160900
 xref: GARD:8310;   ICD10CM:G71.11;   ICD9CM:359.21;   NCI:C84679;   NCI:C84914
For additional species annotation, visit the Alliance of Genome Resources.



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myotonic dystrophy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmpk DM1 protein kinase ISO DNA:trinucleotide expansion:3'UTR
ClinVar Annotator: match by term: Myotonia atrophica | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome
OMIM
ClinVar
RGD
PMID:18414213 PMID:25637381 PMID:25741868 PMID:8595416 RGD:1600900 NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
JBrowse link
G Ldb3 LIM domain binding 3 ISO mRNA, protein:alternative form:exon RGD PMID:24878509 RGD:12792205 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM
CTD
ClinVar
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      musculoskeletal system disease 7179
        muscular disease 1432
          myotonic disease 26
            myotonic dystrophy type 1 7
              Axenfeld-Rieger syndrome type 1 5
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        peripheral nervous system disease 2993
          neuropathy 2780
            neuromuscular disease 2202
              muscular disease 1432
                muscle tissue disease 949
                  myopathy 780
                    muscular dystrophy 421
                      myotonic disease 26
                        myotonic dystrophy type 1 7
                          Axenfeld-Rieger syndrome type 1 5
paths to the root