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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
 xref: EFO:0009149

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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 PMID:33792664 NCBI chr16:1,171,059...1,192,241
Ensembl chr16:1,170,899...1,191,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    physical disorder 4829
      congenital muscular dystrophy 180
        congenital muscular dystrophy with cataracts and intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      nervous system disease 12971
        peripheral nervous system disease 4020
          neuropathy 3830
            neuromuscular disease 3010
              muscular disease 2106
                muscle tissue disease 1263
                  atrophic muscular disease 601
                    muscular dystrophy 597
                      limb-girdle muscular dystrophy 196
                        congenital muscular dystrophy with cataracts and intellectual disability 1
paths to the root