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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 99
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Accession:DOID:0112026 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in USP9X on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: MRX99;   USP9X RELATED DISORDERS;   X-linked mental retardation 99
 primary_id: OMIM:300919
For additional species annotation, visit the Alliance of Genome Resources.


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non-syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Mental retardation, X-linked 99
ClinVar Annotator: match by term: USP9X related disorders
ClinVar
OMIM
PMID:19377476 PMID:24607389 PMID:25741868 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        intellectual disability 3433
          Mental Retardation, X-Linked 717
            non-syndromic X-linked intellectual disability 37
              non-syndromic X-linked intellectual disability 99 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  intellectual disability 3433
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 717
                        non-syndromic X-linked intellectual disability 37
                          non-syndromic X-linked intellectual disability 99 2
paths to the root