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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:X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
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Accession:DOID:0060828 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: MRXS32;   syndromic X-linked intellectual developmental disorder 32;   syndromic X-linked mental retardation 32
 primary_id: MIM:300886
 xref: ORDO:324410


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X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ClinVar PMID:21630357 PMID:22814392 PMID:25741868 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Neurodevelopmental Disorders 6949
        intellectual disability 4384
          syndromic intellectual disability 761
            syndromic X-linked intellectual disability 620
              X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            disease of mental health 8428
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  intellectual disability 4384
                    syndromic intellectual disability 761
                      syndromic X-linked intellectual disability 620
                        X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 1
paths to the root