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non-syndromic X-linked intellectual disability 9 - 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 9
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Accession:DOID:0112034 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: FTSJ1-RELATED CONDITION;   MRX44;   MRX9;   X-linked intellectual developmental disorder 9;   X-linked mental retardation 44;   X-linked mental retardation 9;   XLID9
 primary_id: MESH:C563137
 alt_id: MIM:309549

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non-syndromic X-linked intellectual disability 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:309549
ClinVar Annotator: match by term: FTSJ1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9		 OMIM
CTD
MouseDO
ClinVar		 PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:17221867 More... NCBI chr  X:16,915,087...16,929,426
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Neurodevelopmental Disorders 6972
        intellectual disability 4391
          X-Linked Intellectual Developmental Disorders 826
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 9 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  intellectual disability 4391
                    X-Linked Intellectual Developmental Disorders 826
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 9 1
paths to the root