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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:congenital myopathy 4A
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Accession:DOID:0080102 term browser browse the term
Definition:A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. (DO)
Synonyms:exact_synonym: CFTD;   SEPN1-related disorders;   SEVERE NEONATAL HYPOTONIA IMPROVING WITH AGE;   congenital fiber-type disproportion;   congenital myopathy with fiber-type disproportion
 primary_id: OMIM:255310
 xref: NCI:C120046

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congenital myopathy 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders ClinVar PMID:9536098 PMID:10508519 PMID:10528865 PMID:12921789 PMID:15226407 More... NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 PMID:28855170 PMID:32453731 PMID:32600061 PMID:33731536 NCBI chrNW_004955482:7,708,436...7,713,877
Ensembl chrNW_004955482:7,705,912...7,713,870 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders ClinVar PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age ClinVar PMID:25326635 PMID:25741868 NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders		 ClinVar PMID:7224095 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 More... NCBI chrNW_004955452:5,295,716...5,311,113
Ensembl chrNW_004955452:5,296,035...5,309,102 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 NCBI chrNW_004955472:611,079...617,823
Ensembl chrNW_004955472:611,028...617,821 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion OMIM
ClinVar		 PMID:1221488 PMID:10619715 PMID:12163190 PMID:12467750 PMID:17376686 More... NCBI chrNW_004955545:715,860...746,580
Ensembl chrNW_004955545:715,280...746,575 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      congenital myopathy 4A 7
        X-linked congenital myopathy with fiber-type disproportion 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                muscle tissue disease 1200
                  myopathy 930
                    congenital myopathy 232
                      congenital structural myopathy 128
                        congenital myopathy 4A 7
                          X-linked congenital myopathy with fiber-type disproportion 0
paths to the root