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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;   OMIM:300419
 xref: GARD:5614
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:300419
ClinVar Annotator: match by term: Mental retardation, with or without seizures, ARX-related, X-linked
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87
ClinVar Annotator: match by term: Mental retardation, X-linked 52
OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Neurodevelopmental Disorders 5692
        intellectual disability 3446
          Mental Retardation, X-Linked 719
            non-syndromic X-linked intellectual disability 36
              non-syndromic X-linked intellectual disability ARX-related 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        non-syndromic X-linked intellectual disability 36
                          non-syndromic X-linked intellectual disability ARX-related 1
paths to the root