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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 97
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Accession:DOID:0112046 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: MRX65;   MRX97;   MRXZ;   X-linked intellectual developmental disorder 97;   X-linked mental retardation 65;   X-linked mental retardation 97;   X-linked mental retardation, ZNF711-related;   XLID97;   nonsyndromic X-linked intellectual developmental disorder 97
 primary_id: MESH:C567583
 alt_id: MIM:300803


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non-syndromic X-linked intellectual disability 97 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 ClinVar PMID:25741868 NCBI chr  X:81,875,348...81,942,046
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 OMIM
ClinVar		 PMID:10398247 PMID:19377476 PMID:25741868 PMID:27993705 PMID:28454995 More... NCBI chr  X:81,838,483...81,871,767
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Neurodevelopmental Disorders 6978
        intellectual disability 4396
          non-syndromic intellectual disability 57
            non-syndromic X-linked intellectual disability 52
              non-syndromic X-linked intellectual disability 97 2
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8477
              developmental disorder of mental health 5661
                specific developmental disorder 4628
                  intellectual disability 4396
                    non-syndromic intellectual disability 57
                      non-syndromic X-linked intellectual disability 52
                        non-syndromic X-linked intellectual disability 97 2
paths to the root