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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 10
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Accession:DOID:0110668 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)
Synonyms:exact_synonym: CMS Ib;   CMS10;   LGM;   congenital muscular dystrophy merosin-positive;   congenital myasthenic syndrome type Ib
 related_synonym: CMS Ib (formerly);   CMS1B (formerly);   LGM (formerly);   congenital myasthenic syndrome type IB (formerly);   myasthenic myopathy (formerly)
 primary_id: MESH:C536089;   MESH:C563716
 alt_id: DOID:0110638;   OMIM:254300


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital muscular dystrophy 177
        congenital myasthenic syndrome 10 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  atrophic muscular disease 604
                    muscular dystrophy 600
                      congenital muscular dystrophy 177
                        congenital myasthenic syndrome 10 1
paths to the root