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

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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Neurodevelopmental Disorders 2775
        intellectual disability 1599
          congenital muscular dystrophy with cataracts and intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        peripheral nervous system disease 2022
          neuropathy 1841
            neuromuscular disease 1417
              muscular disease 914
                muscle tissue disease 636
                  myopathy 525
                    muscular dystrophy 248
                      congenital muscular dystrophy 62
                        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.