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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:non-syndromic X-linked intellectual disability ARX-related
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Accession:DOID:0112021 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. (DO)
Synonyms:exact_synonym: ARX-related intellectual disability;   MRX29;   MRX32;   MRX33;   MRX38;   MRX43;   MRX52;   MRX54;   MRX76;   MRX87;   MRXARX;   X-linked intellectual developmental disorder 29;   X-linked mental retardation 29;   X-linked mental retardation 29 and others;   X-linked mental retardation 32;   X-linked mental retardation 33;   X-linked mental retardation 38;   X-linked mental retardation 43;   X-linked mental retardation 52;   X-linked mental retardation 54;   X-linked mental retardation 76;   X-linked mental retardation 87;   X-linked mental retardation with or without seizures, ARX-related;   XLID29
 primary_id: MESH:C563150
 alt_id: MESH:C564502;   MIM:300419
 xref: GARD:5614


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non-syndromic X-linked intellectual disability ARX-related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 		OMIM
CTD
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Neurodevelopmental Disorders 6978
        intellectual disability 4396
          X-Linked Intellectual Developmental Disorders 825
            non-syndromic X-linked intellectual disability 52
              non-syndromic X-linked intellectual disability ARX-related 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8477
              developmental disorder of mental health 5661
                specific developmental disorder 4628
                  intellectual disability 4396
                    X-Linked Intellectual Developmental Disorders 825
                      non-syndromic X-linked intellectual disability 52
                        non-syndromic X-linked intellectual disability ARX-related 1
paths to the root