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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;   nemaline myopathy 2, autosomal recessive;   nemaline myopathy caused by mutation in the nebulin gene;   nemaline myopathy, NEB-related
 primary_id: MESH:C538349
 alt_id: OMIA:002137;   OMIM:256030
 xref: NCI:C118784
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl5a ADP-ribosylation factor like GTPase 5A ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:28492532 NCBI chr 3:37,922,544...37,947,434
Ensembl chr 3:37,924,793...37,947,283
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Nemaline myopathy 2
ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive
ClinVar Annotator: match by OMIM:256030
OMIM
ClinVar
PMID:7739042 PMID:10051637 PMID:10931867 PMID:11309420 PMID:11851340 PMID:11994971 PMID:12207937 PMID:12207938 PMID:15221447 PMID:15336686 PMID:16917880 PMID:17525139 PMID:18330676 PMID:18414213 PMID:19232495 PMID:19339519 PMID:19346529 PMID:19763152 PMID:19805734 PMID:19944167 PMID:20307669 PMID:21148390 PMID:21350120 PMID:21520333 PMID:21724397 PMID:22183965 PMID:22367672 PMID:22406018 PMID:22941678 PMID:23443021 PMID:23555315 PMID:23572184 PMID:23715096 PMID:23726790 PMID:23826317 PMID:24033266 PMID:24046450 PMID:24056153 PMID:24725366 PMID:24753607 PMID:24972929 PMID:25079567 PMID:25110572 PMID:25203624 PMID:25205138 PMID:25205148 PMID:25214167 PMID:25296583 PMID:25356970 PMID:25473036 PMID:25525159 PMID:25589042 PMID:25589043 PMID:25741868 PMID:25741869 PMID:26019235 PMID:26036949 PMID:26197980 PMID:26403434 PMID:26467025 PMID:26573135 PMID:26578207 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27066551 PMID:27105866 PMID:27168972 PMID:27357428 PMID:27739254 PMID:27854218 PMID:27884173 PMID:27933661 PMID:28131200 PMID:28132693 PMID:28336317 PMID:28391287 PMID:28403181 PMID:28492532 PMID:28600779 PMID:29070751 PMID:29382405 PMID:29389947 PMID:29392406 PMID:29669168 PMID:29689380 PMID:29754767 PMID:30057997 PMID:30369353 PMID:30467404 PMID:30679003 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:7739042 PMID:10051637 PMID:10931867 PMID:11309420 PMID:11851340 PMID:11994971 PMID:12207938 PMID:15336686 PMID:16917880 PMID:17525139 PMID:18414213 PMID:19339519 PMID:19805734 PMID:21148390 PMID:21520333 PMID:23443021 PMID:24033266 PMID:24046450 PMID:24056153 PMID:24725366 PMID:24972929 PMID:25110572 PMID:25205138 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26019235 PMID:26197980 PMID:26403434 PMID:26467025 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27066551 PMID:27105866 PMID:27357428 PMID:27884173 PMID:28132693 PMID:28492532 PMID:29382405 PMID:29389947 PMID:29669168 PMID:29689380 PMID:29754767 PMID:30057997 PMID:30467404 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital structural myopathy 150
        nemaline myopathy 59
          nemaline myopathy 2 4
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    congenital structural myopathy 150
                      nemaline myopathy 59
                        nemaline myopathy 2 4
paths to the root