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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:A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. (DO)
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 ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability OMIM
ClinVar
PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 NCBI chr10:60,474,262...60,495,813
Ensembl chr10:60,475,897...60,496,773
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital muscular dystrophy 116
        congenital muscular dystrophy with cataracts and intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        peripheral nervous system disease 3019
          neuropathy 2805
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    muscular dystrophy 420
                      congenital muscular dystrophy 116
                        congenital muscular dystrophy with cataracts and intellectual disability 1
paths to the root