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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 22
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Accession:DOID:0080587 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. (DO)
Synonyms:exact_synonym: CMS22;   PREPL DEFICIENCY
 primary_id: OMIM:616224
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 ClinVar
OMIM
PMID:22796000 PMID:24033266 PMID:24610330 PMID:25741868 PMID:28492532 PMID:28726805 PMID:29483676 PMID:29913539 PMID:32860008 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
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G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 ClinVar PMID:22796000 PMID:24610330 PMID:25741868 PMID:28492532 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital myasthenic syndrome 89
        congenital myasthenic syndrome 22 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              neuromuscular junction disease 116
                congenital myasthenic syndrome 89
                  congenital myasthenic syndrome 22 2
paths to the root