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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 neuromuscular disease 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: Baily-Bloch congenital myopathy;   MYPBB;   NAM;   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;   RDO:0004309
 xref: GARD:8432;   ORDO:168572
For additional species annotation, visit the Alliance of Genome Resources.


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Native American myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Native American myopathy
ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA
OMIM
ClinVar
PMID:23736855, PMID:25741868, PMID:28411587, PMID:28492532, PMID:28777491, PMID:30168660, PMID:31219695 NCBI chr 7:70,807,427...70,815,271
Ensembl chr 7:70,807,867...70,815,270
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    physical disorder 985
      orofacial cleft 125
        cleft palate 96
          Native American myopathy 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  atrophic muscular disease 329
                    muscular dystrophy 327
                      myotonic disease 18
                        myotonia congenita 8
                          Native American myopathy 1
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.