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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 1
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Accession:DOID:0110926 term browser browse the term
Definition:A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: CMYO4B;   CMYP4B;   NEM1;   cap myopathy, TPM3-related;   congenital myopathy 4B;   congenital myopathy 4B, autosomal recessive;   nemaline myopathy 1, autosomal dominant or recessive;   nemaline myopathy caused by mutation in the tropomyosin 3 gene
 narrow_synonym: CAP myopathy 1;   CAPM1
 xref: MESH:C538348;   MIM:609284;   MONDO:0012239


show annotations for term's descendants           Sort by:
nemaline myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Cap myopathy 1 ClinVar PMID:12192640 PMID:15122708 PMID:15668457 PMID:16365872 PMID:17204937 More... NCBI chr 5:152,032,330...152,046,707
Ensembl chr 5:152,032,330...152,046,707 		JBrowse link
G Tpm3 tropomyosin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cap myopathy 1 | ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy 1, autosomal dominant or recessive 		OMIM
CTD
ClinVar		 PMID:1221488 PMID:7663526 PMID:7704029 PMID:9536098 PMID:10587521 More... NCBI chr 2:177,812,534...177,842,661
Ensembl chr 2:177,814,883...177,842,660 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                nemaline myopathy 1 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    congenital myopathy 252
                      nemaline myopathy 67
                        nemaline myopathy 1 2
paths to the root