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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 the ACSL4 gene on chromosome Xq23. (DO)
Synonyms:exact_synonym: ACSL4-RELATED CONDITION;   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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACSL4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68		 OMIM
CTD
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28492532 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          X-Linked Intellectual Developmental Disorders 806
            non-syndromic X-linked intellectual disability 45
              non-syndromic X-linked intellectual disability 63 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    X-Linked Intellectual Developmental Disorders 806
                      non-syndromic X-linked intellectual disability 45
                        non-syndromic X-linked intellectual disability 63 1
paths to the root