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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: CMYO12;   CMYP12;   MYPCN;   congenital myopathy 12
 xref: MESH:C567261;   MIM:612540;   MONDO:0012929;   ORDO:210163


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:612540
ClinVar Annotator: match by term: Compton-North congenital myopathy		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19026398 More... NCBI chr 7:123,263,146...123,560,896
Ensembl chr 7:123,372,792...123,558,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      Compton-North congenital myopathy 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        peripheral nervous system disease 4263
          neuropathy 4049
            neuromuscular disease 3191
              muscular disease 2212
                muscle tissue disease 1347
                  myopathy 1039
                    congenital myopathy 244
                      Compton-North congenital myopathy 1
paths to the root