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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:Compton-North congenital myopathy
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Accession:DOID:0080101 term browser browse the term
Definition:A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. (DO)
Synonyms:exact_synonym: MYPCN
 primary_id: MESH:C567261
 alt_id: OMIM:612540
 xref: ORDO:210163
For additional species annotation, visit the Alliance of Genome Resources.



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Compton-North congenital myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn1 contactin 1 ISO ClinVar Annotator: match by term: Compton-North congenital myopathy OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19026398 PMID:22242131 More... NCBI chr 7:123,263,146...123,560,896
Ensembl chr 7:123,372,792...123,558,541
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital myasthenic syndrome 134
        Compton-North congenital myopathy 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  myopathy 768
                    congenital myopathy 37
                      Compton-North congenital myopathy 1
paths to the root