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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 muscular dystrophy 1B
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Accession:DOID:0110634 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. (DO)
Synonyms:exact_synonym: MDC1B;   congenital muscular dystrophy type 1B
 primary_id: MESH:C565748
 alt_id: OMIM:604801;   RDO:0014304
 xref: ICD10CM:G71.2;   ORDO:98893
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16134
    physical disorder 2483
      congenital muscular dystrophy 71
        congenital muscular dystrophy 1B 0
Path 2
Term Annotations click to browse term
  disease 16134
    disease of anatomical entity 15381
      nervous system disease 10989
        peripheral nervous system disease 2431
          neuropathy 2246
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  atrophic muscular disease 314
                    muscular dystrophy 312
                      congenital muscular dystrophy 71
                        congenital muscular dystrophy 1B 0
paths to the root