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syndromic X-linked intellectual disability 34 - 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:syndromic X-linked intellectual disability 34
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Accession:DOID:0060817 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. (DO)
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE;   MRXS34;   MRXSML;   NONO-RELATED CONDITION;   macrocephaly-intellectual disability-left ventricular non compaction syndrome;   syndromic X-linked intellectual developmental disorder 34;   syndromic X-linked mental retardation 34
 primary_id: MIM:300967
 xref: ORDO:466791

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syndromic X-linked intellectual disability 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chrNW_004624903:1,562,818...1,583,648
Ensembl chrNW_004624903:1,562,743...1,586,985 		JBrowse link
G G NONO non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chr  X:61,082,923...61,110,895 JBrowse link
G S Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chrNW_004936762:322,413...343,126
Ensembl chrNW_004936762:321,280...341,537 		JBrowse link
G D NONO non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chr  X:55,618,032...55,632,237
Ensembl chr  X:55,618,095...55,631,388 		JBrowse link
G B NONO non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chr  X:60,547,277...60,564,845
Ensembl chr  X:70,602,456...70,619,956 		JBrowse link
G C Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519 		JBrowse link
G R Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G M Nono non-POU-domain-containing, octamer binding protein ISO ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197 		JBrowse link
G H NONO non-POU domain containing octamer binding IAGP ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34
ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 		ClinVar
OMIM		 PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    Developmental Disease 170869
      Neurodevelopmental Disorders 77061
        intellectual disability 45658
          syndromic intellectual disability 7922
            syndromic X-linked intellectual disability 11706
              syndromic X-linked intellectual disability 34 9
Path 2
Term Annotations click to browse term
  disease 292546
    disease of anatomical entity 276172
      nervous system disease 194347
        central nervous system disease 160199
          brain disease 150992
            disease of mental health 111777
              developmental disorder of mental health 63993
                specific developmental disorder 50157
                  intellectual disability 45658
                    syndromic intellectual disability 7922
                      syndromic X-linked intellectual disability 11706
                        syndromic X-linked intellectual disability 34 9
paths to the root