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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 FTSJ1 on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: 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: OMIM:309549
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by OMIM:309549
ClinVar Annotator: match by term: Mental retardation 9, X-linked
OMIM
ClinVar
PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:25741868 NCBI chr  X:14,243,684...14,256,555
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 17256
    Developmental Disease 10968
      Neurodevelopmental Disorders 5714
        intellectual disability 3476
          Mental Retardation, X-Linked 719
            non-syndromic X-linked intellectual disability 37
              non-syndromic X-linked intellectual disability 9 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        central nervous system disease 10411
          brain disease 9772
            disease of mental health 7064
              developmental disorder of mental health 4406
                specific developmental disorder 3665
                  intellectual disability 3476
                    syndromic intellectual disability 760
                      Mental Retardation, X-Linked 719
                        non-syndromic X-linked intellectual disability 37
                          non-syndromic X-linked intellectual disability 9 1
paths to the root