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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 6
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Accession:DOID:0110671 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (DO)
Synonyms:exact_synonym: CMS Ia2;   CMS1A2;   CMS6;   CMSEA;   FIM;   FIMG2;   MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2;   Myasthenia familial infantile;   congenital myasthenic syndrome 6, presynaptic;   congenital myasthenic syndrome associated with episodic apnea;   congenital myasthenic syndrome type 1a;   congenital myasthenic syndrome type Ia;   congenital myasthenic syndrome type Ia2;   congenital myasthenic syndrome with episodic apnea;   congenital myasthenic syndrome, CHAT-related;   congenital myasthenic syndrome, due to CHAT;   congenital presynaptic myasthenic syndrome associated with episodic apnea
 primary_id: MESH:C535759
 alt_id: MIM:254210;   OMIA:002072;   RDO:0001050
 xref: NCI:C132292


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congenital myasthenic syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase susceptibility ISO
ISS		 DNA:frameshift mutation, missense mutations (human)
CTD Direct Evidence: marker/mechanism
OMIM:254210
ClinVar Annotator: match by term: Familial infantile myasthenia		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    physical disorder 5168
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 6 3
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Immune & Inflammatory Diseases 5741
        immune system disease 4930
          primary immunodeficiency disease 4306
            autoimmune disease 2365
              autoimmune disease of the nervous system 704
                autoimmune disease of peripheral nervous system 66
                  myasthenia gravis 34
                    congenital myasthenic syndrome 6 3
paths to the root