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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: OMIA:002072;   OMIM:254210;   RDO:0001050
 xref: NCI:C132292
For additional species annotation, visit the Alliance of Genome Resources.


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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 DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by OMIM:254210
ClinVar Annotator: match by term: Familial infantile myasthenia
OMIM
ClinVar
PMID:7616604, PMID:11172068, PMID:12756141, PMID:15381704, PMID:15701560, PMID:18414213, PMID:19520274, PMID:19900826, PMID:21786365, PMID:21948486, PMID:24033266, PMID:25741868, PMID:26080897, PMID:26467025, PMID:26789281, PMID:28492532, PMID:28497657, PMID:29189923, PMID:11172068 RGD:1600831 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Signs and Symptoms 5192
        Signs and Symptoms, Respiratory 225
          Apnea 73
            congenital myasthenic syndrome 6 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            autoimmune disease 1670
              autoimmune disease of the nervous system 414
                autoimmune disease of peripheral nervous system 60
                  myasthenia gravis 30
                    congenital myasthenic syndrome 6 2
paths to the root

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