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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 2
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Accession:DOID:0110928 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)
Synonyms:exact_synonym: NEM2;   congenital myopathy 2;   nemaline myopathy 2, autosomal recessive;   nemaline myopathy caused by mutation in the nebulin gene;   nemaline myopathy type 2;   nemaline myopathy, NEB-related
 xref: MESH:C538349;   MIM:256030;   MONDO:0009725;   NCI:C118784;   OMIA:002137


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nemaline myopathy 2 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: Nemaline myopathy 2 ClinVar PMID:1351946 PMID:9401010 PMID:12921789 PMID:19562689 PMID:22095987 More... NCBI chr19:68,781,168...68,784,194
Ensembl chr19:68,781,168...68,786,178 		JBrowse link
G Arl5a ARF like GTPase 5A ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25205138 PMID:28492532 NCBI chr 3:57,287,599...57,312,488
Ensembl chr 3:57,289,846...57,312,488 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25205138 PMID:28492532 NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:57,315,900...57,578,220 		JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Neb nebulin ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:256030
ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive
ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene
ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene 		OMIM
CTD
MouseDO
ClinVar		 PMID:7739042 PMID:9536098 PMID:10051637 PMID:10838258 PMID:10931867 More... NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:57,022,822...57,220,709 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 More... NCBI chr 3:56,963,840...57,017,106
Ensembl chr 3:56,963,854...57,017,106 		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 2 6
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 2 6
paths to the root