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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 Infantile Muscular Dystrophy with Cataract and Hypogonadism
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Accession:DOID:9005534 term browser browse the term
Synonyms:exact_synonym: Familial congenital muscular dystrophy with gonadal dysgenesis
 primary_id: MESH:C537385
 alt_id: MIM:254000


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    physical disorder 5182
      congenital muscular dystrophy 212
        Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        peripheral nervous system disease 4278
          neuropathy 4064
            neuromuscular disease 3203
              muscular disease 2223
                muscle tissue disease 1351
                  atrophic muscular disease 674
                    Brody myopathy 670
                      muscular dystrophy 654
                        congenital muscular dystrophy 212
                          Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
paths to the root