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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:female-restricted syndromic X-linked intellectual disability 99
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Accession:DOID:0112025 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: MRXS99F;   X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability;   syndromic X-linked intellectual developmental disorder 99, female-restricted;   syndromic X-linked mental retardation 99, female-restricted
 broad_synonym: USP9X RELATED DISORDER;   USP9X-RELATED CONDITION;   USP9X-RELATED NEURODEVELOPMENTAL DISORDER
 primary_id: OMIM:300968
 xref: GARD:13638


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female-restricted syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp9x ubiquitin specific peptidase 9, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26833328 PMID:28492532 PMID:31443933 PMID:34008892 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 18969
    Developmental Disease 14398
      Neurodevelopmental Disorders 6845
        intellectual disability 4301
          X-Linked Intellectual Developmental Disorders 808
            syndromic X-linked intellectual disability 618
              female-restricted syndromic X-linked intellectual disability 99 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4301
                    X-Linked Intellectual Developmental Disorders 808
                      syndromic X-linked intellectual disability 618
                        female-restricted syndromic X-linked intellectual disability 99 1
paths to the root