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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:15913950, PMID:22766003, PMID:22796000, PMID:22940581, PMID:23321636, PMID:23485813, PMID:23794250, PMID:24033266, PMID:24586561, 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
JBrowse link
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 22 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 22 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.