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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:centronuclear myopathy 5
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Accession:DOID:0111222 term browser browse the term
Definition:An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. (DO)
Synonyms:exact_synonym: CNM5;   SPEG-RELATED CONDITION
 primary_id: OMIM:615959


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centronuclear myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15037581 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 | ClinVar Annotator: match by term: SPEG-related condition OMIM
ClinVar		 PMID:19118250 PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      congenital structural myopathy 133
        autosomal recessive centronuclear myopathy 13
          centronuclear myopathy 5 3
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        peripheral nervous system disease 4131
          neuropathy 3914
            neuromuscular disease 3064
              muscular disease 2153
                muscle tissue disease 1300
                  myopathy 1015
                    congenital myopathy 239
                      congenital structural myopathy 133
                        centronuclear myopathy 31
                          autosomal recessive centronuclear myopathy 13
                            centronuclear myopathy 5 3
paths to the root