Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital muscular dystrophy with cataracts and intellectual disability
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
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 14924
    Developmental Diseases 7770
      Neurodevelopmental Disorders 2761
        intellectual disability 1589
          congenital muscular dystrophy with cataracts and intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                muscle tissue disease 613
                  myopathy 494
                    muscular dystrophy 223
                      congenital muscular dystrophy 48
                        congenital muscular dystrophy with cataracts and intellectual disability 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.