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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 19145
    Developmental Disease 14671
      Neurodevelopmental Disorders 6978
        intellectual disability 4396
          X-Linked Intellectual Developmental Disorders 825
            non-syndromic X-linked intellectual disability 52
              non-syndromic X-linked intellectual disability 9 1
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
                    X-Linked Intellectual Developmental Disorders 825
                      non-syndromic X-linked intellectual disability 52
                        non-syndromic X-linked intellectual disability 9 1
paths to the root