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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:MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
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Accession:DOID:9009026 term browser browse the term
Definition:An autosomal recessive muscle disorder that presents at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging.
Synonyms:exact_synonym: MYODRIF;   MYOPATHY, CONGENITAL, DUE TO MYOD1 DEFICIENCY;   congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
 pimary_id: OMIM:618975
For additional species annotation, visit the Alliance of Genome Resources.


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MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES OMIM
ClinVar
PMID:25741868 PMID:26733463 PMID:30403323 PMID:31260566 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      congenital myopathy 32
        MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        peripheral nervous system disease 2422
          neuropathy 2233
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  myopathy 649
                    congenital myopathy 32
                      MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES 1
paths to the root