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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 Atrophica;   Myotonia Dystrophica;   Myotonic Dystrophy 1;   PROMM;   PROMM (Proximal Myotonic Myopathy);   PROMMs (Proximal Myotonic Myopathy);   Proximal Myotonic Myopathies;   Proximal Myotonic Myopathy;   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;   myotonic dystrophies;   myotonic dystrophy of Steinert
 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: Dystrophia myotonica
ClinVar Annotator: match by term: DYSTROPHIA MYOTONICA
ClinVar Annotator: match by OMIM:160900		 ClinVar
OMIM		 PMID:18414213 PMID:25637381 PMID:25741868, PMID:8595416 RGD:1600900 NCBI chr 1:79,988,096...79,999,358
Ensembl chr 1:79,989,019...79,999,364 		JBrowse link
G Ldb3 LIM domain binding 3 ISO mRNA, protein:alternative form:exon RGD PMID:24878509 RGD:12792205 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501 		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 chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500		 OMIM
ClinVar
CTD		 PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        muscular disease 1186
          myotonic disease 20
            myotonic dystrophy type 1 7
              Axenfeld-Rieger syndrome type 1 5
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                muscle tissue disease 809
                  myopathy 645
                    muscular dystrophy 314
                      myotonic disease 20
                        myotonic dystrophy type 1 7
                          Axenfeld-Rieger syndrome type 1 5
paths to the root