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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 63
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Accession:DOID:0112050 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in ACSL4 on chromosome Xq23. (DO)
Synonyms:exact_synonym: ACSL4-related intellectual disability;   MRX63;   MRX68;   X-linked intellectual developmental disorder 63;   X-linked mental retardation 63;   X-linked mental retardation 68;   XLID63
 primary_id: MESH:C564522
 alt_id: OMIM:300387
 xref: GARD:5613
For additional species annotation, visit the Alliance of Genome Resources.



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non-syndromic X-linked intellectual disability 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 OMIM
ClinVar
PMID:11889465 PMID:12525535 PMID:25741868 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Neurodevelopmental Disorders 6103
        intellectual disability 3878
          X-Linked Intellectual Developmental Disorders 750
            non-syndromic X-linked intellectual disability 40
              non-syndromic X-linked intellectual disability 63 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    X-Linked Intellectual Developmental Disorders 750
                      non-syndromic X-linked intellectual disability 40
                        non-syndromic X-linked intellectual disability 63 1
paths to the root