Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 OMIM:612540
ClinVar Annotator: match by term: Myopathy, congenital, compton-north
OMIM
ClinVar
PMID:18414213, PMID:19026398, PMID:22242131, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:133,290,606...133,588,314
Ensembl chr 7:133,400,485...133,586,677
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          congenital myasthenic syndrome 87
            Compton-North congenital myopathy 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    congenital myopathy 27
                      Compton-North congenital myopathy 1
paths to the root

NHLBI Logo

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