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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 5B
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Accession:DOID:0081374 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. (DO)
Synonyms:exact_synonym: NEM5B;   NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET
 primary_id: MIM:620386
 alt_id: DOID:0080003


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nemaline myopathy 5B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Nemaline myopathy 5B, autosomal recessive, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:31970803 PMID:35165004 PMID:35510366 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal recessive disease 6897
                nemaline myopathy 5B 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        peripheral nervous system disease 4261
          neuropathy 4047
            neuromuscular disease 3190
              muscular disease 2212
                muscle tissue disease 1347
                  myopathy 1039
                    congenital myopathy 244
                      nemaline myopathy 66
                        nemaline myopathy 5B 1
paths to the root