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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:Native American myopathy
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Accession:DOID:0060346 term browser browse the term
Definition:A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: Bailey-Bloch congenital myopathy;   Baily-Bloch congenital myopathy;   CMYP13;   MYPBB;   NAM;   congenital myopathy 13;   congenital myopathy cleft palate and malignant hyperthermia;   congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia;   congenital myopathy, with cleft palate and malignant hyperthermia
 primary_id: MESH:C538343
 alt_id: OMIM:255995
 xref: GARD:8432;   ORDO:168572


show annotations for term's descendants           Sort by:
Native American myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 IAGP ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560 		JBrowse link
G INSR insulin receptor IAGP ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP
EXP		 ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    physical disorder 7158
      myotonia congenita 25
        Native American myopathy 3
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      nervous system disease 26372
        peripheral nervous system disease 5393
          neuropathy 5139
            neuromuscular disease 4050
              muscular disease 2812
                muscle tissue disease 1720
                  myopathy 1395
                    muscular dystrophy 852
                      myotonic disease 97
                        myotonia congenita 25
                          Native American myopathy 3
paths to the root