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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 8
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Accession:DOID:0110930 term browser browse the term
Definition:Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth.
Synonyms:exact_synonym: NEM8;   nemaline myopathy 8, autosomal recessive
 primary_id: OMIM:615348
 alt_id: RDO:9000733
 xref: NCI:C129871
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl40 kelch-like family member 40 ISO ClinVar Annotator: match by OMIM:615348
ClinVar Annotator: match by term: Nemaline myopathy 8
OMIM
ClinVar
PMID:23746549, PMID:25741868, PMID:26467025, PMID:27528495, PMID:27762439, PMID:28492532, PMID:28973083, PMID:32352246 NCBI chr 8:130,416,265...130,421,871
Ensembl chr 8:130,416,355...130,421,871
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      congenital structural myopathy 141
        nemaline myopathy 58
          nemaline myopathy 8 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  myopathy 670
                    congenital structural myopathy 141
                      nemaline myopathy 58
                        nemaline myopathy 8 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.