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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 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Insr insulin receptor ISO 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 chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO 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
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    physical disorder 4974
      myotonia congenita 13
        Native American myopathy 3
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        peripheral nervous system disease 4131
          neuropathy 3914
            neuromuscular disease 3064
              muscular disease 2153
                muscle tissue disease 1300
                  myopathy 1015
                    muscular dystrophy 607
                      myotonic disease 33
                        myotonia congenita 13
                          Native American myopathy 3
paths to the root