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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:nemaline myopathy 5
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Accession:DOID:0110936 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: ANM;   Amish nemaline myopathy;   NEM5;   nemaline myopathy 5, Amish type;   nemaline myopathy, Amish type;   nemaline myopathy, caused by mutation in the troponin t1 gene
 primary_id: MESH:C538397
 alt_id: OMIM:605355;   RDO:0004374
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO DNA:nonsense mutation:exon:p.E180X (human)
ClinVar Annotator: match by term: Nemaline myopathy 5
OMIM
ClinVar
PMID:10952871, PMID:12732643, PMID:15665378, PMID:18414213, PMID:24033266, PMID:24689076, PMID:25430424, PMID:25712079, PMID:25741868, PMID:26296490, PMID:26467025, PMID:27429059, PMID:27790152, PMID:28492532, PMID:29178646, PMID:10952871 RGD:737736 NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital structural myopathy 140
        nemaline myopathy 58
          nemaline myopathy 5 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    congenital structural myopathy 140
                      nemaline myopathy 58
                        nemaline myopathy 5 2
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.