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ONTOLOGY REPORT - ANNOTATIONS


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
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congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inpp5k inositol polyphosphate-5-phosphatase K JBrowse link 10 63,775,639 63,796,879 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Neurodevelopmental Disorders 4083
        intellectual disability 1712
          congenital muscular dystrophy with cataracts and intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  atrophic muscular disease 280
                    muscular dystrophy 278
                      limb-girdle muscular dystrophy 122
                        congenital muscular dystrophy with cataracts and intellectual disability 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.