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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 the USP9X gene on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: MRX99;   X-linked intellectual developmental disorder 99;   X-linked mental retardation 99;   XLID99
 broad_synonym: USP9X RELATED DISORDER;   USP9X-RELATED CONDITION;   USP9X-RELATED NEURODEVELOPMENTAL DISORDER
 primary_id: MIM:300919


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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 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:25741868 NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related disorder | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder OMIM
ClinVar		 PMID:19377476 PMID:24607389 PMID:25741868 PMID:26833328 PMID:28492532 More... NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Neurodevelopmental Disorders 6959
        intellectual disability 4386
          X-Linked Intellectual Developmental Disorders 825
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 99 3
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          brain disease 11840
            disease of mental health 8437
              developmental disorder of mental health 5651
                specific developmental disorder 4611
                  intellectual disability 4386
                    X-Linked Intellectual Developmental Disorders 825
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 99 3
paths to the root