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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 with cataracts and intellectual disability
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Accession:DOID:0080197 term browser browse the term
Definition:An autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures. (OMIM)
Synonyms:exact_synonym: MDCCAID
 primary_id: OMIM:617404
 alt_id: RDO:9001716
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INPP5K inositol polyphosphate-5-phosphatase K ISO OMIM NCBI chr17:1,477,511...1,499,765
Ensembl chr17:1,377,312...1,399,373
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    physical disorder 2378
      congenital muscular dystrophy 70
        congenital muscular dystrophy with cataracts and intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10089
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  myopathy 594
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        congenital muscular dystrophy with cataracts and intellectual disability 1
paths to the root