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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. (DO)
Synonyms:exact_synonym: CMS Ib;   CMS10;   LGM;   congenital muscular dystrophy merosin-positive;   congenital myasthenic syndrome type Ib
 broad_synonym: DOK7-related condition
 related_synonym: CMS Ib (formerly);   CMS1B (formerly);   LGM (formerly);   congenital myasthenic syndrome type IB (formerly);   myasthenic myopathy (formerly)
 alt_id: DOID:0110638
 xref: MESH:C536089;   MESH:C563716;   MIM:254300;   MONDO:0009690


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital muscular dystrophy 213
        congenital myasthenic syndrome 10 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    muscular dystrophy 659
                      congenital muscular dystrophy 213
                        congenital myasthenic syndrome 10 2
paths to the root