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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:congenital myasthenic syndrome 19
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Accession:DOID:0110673 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: CMS19;   COL13A1-RELATED CONDITION
 xref: MIM:616720;   MONDO:0014745



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congenital myasthenic syndrome 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col13a1 collagen type XIII alpha 1 chain ISO
ISS
ClinVar Annotator: match by term: COL13A1-related condition | ClinVar Annotator: match by term: Congenital myasthenic syndrome 19
OMIM:616720
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26626625 More... NCBI chr20:29,783,965...29,924,116
Ensembl chr20:29,783,965...29,924,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    physical disorder 5165
      congenital myasthenic syndrome 191
        congenital myasthenic syndrome 19 1
Path 2
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      nervous system disease 14266
        peripheral nervous system disease 4265
          neuropathy 4052
            neuromuscular disease 3195
              neuromuscular junction disease 221
                congenital myasthenic syndrome 191
                  congenital myasthenic syndrome 19 1
paths to the root