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non-syndromic X-linked intellectual disability 63 - Ontology Report - Rat Genome Database

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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: MIM: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 N Acsl4 acyl-CoA synthetase long chain family member 4 ISO 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
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chrNW_004624803:6,272,954...6,372,815
Ensembl chrNW_004624803:6,336,964...6,372,815 		JBrowse link
G G ACSL4 acyl-CoA synthetase long chain family member 4 ISO 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
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chr  X:97,488,414...97,575,251 JBrowse link
G P ACSL4 acyl-CoA synthetase long chain family member 4 ISO 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
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chr  X:89,760,863...89,838,103
Ensembl chr  X:89,760,866...89,806,274 		JBrowse link
G S Acsl4 acyl-CoA synthetase long chain family member 4 ISO 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
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chrNW_004936499:5,456,985...5,540,115
Ensembl chrNW_004936499:5,456,986...5,540,144 		JBrowse link
G D ACSL4 acyl-CoA synthetase long chain family member 4 ISO 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
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chr  X:82,864,506...82,943,984
Ensembl chr  X:82,866,823...82,916,789 		JBrowse link
G B ACSL4 acyl-CoA synthetase long chain family member 4 ISO 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
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chr  X:98,731,109...98,841,067
Ensembl chr  X:109,206,964...109,310,914 		JBrowse link
G C Acsl4 acyl-CoA synthetase long chain family member 4 ISO 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
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chrNW_004955490:6,143,833...6,228,395
Ensembl chrNW_004955490:6,143,833...6,228,452 		JBrowse link
G R Acsl4 acyl-CoA synthetase long-chain family member 4 ISO 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chr  X:110,739,633...110,803,416
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G M Acsl4 acyl-CoA synthetase long-chain family member 4 ISO 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chr  X:141,100,989...141,173,792
Ensembl chr  X:141,100,989...141,173,531 		JBrowse link
G H ACSL4 acyl-CoA synthetase long chain family member 4 IAGP
EXP		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Neurodevelopmental Disorders 76987
        intellectual disability 45595
          X-Linked Intellectual Developmental Disorders 8427
            non-syndromic X-linked intellectual disability 540
              non-syndromic X-linked intellectual disability 63 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              developmental disorder of mental health 63917
                specific developmental disorder 50074
                  intellectual disability 45595
                    X-Linked Intellectual Developmental Disorders 8427
                      non-syndromic X-linked intellectual disability 540
                        non-syndromic X-linked intellectual disability 63 10
paths to the root