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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: MIM:300968
 xref: GARD:13638



show annotations for term's descendants           Sort by:
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 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
ClinVar
PMID:16005295 PMID:25741868 PMID:26833328 PMID:27501351 PMID:28492532 More... NCBI chr  X:9,588,825...9,726,993 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Neurodevelopmental Disorders 6967
        intellectual disability 4381
          X-Linked Intellectual Developmental Disorders 824
            syndromic X-linked intellectual disability 619
              female-restricted syndromic X-linked intellectual disability 99 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    X-Linked Intellectual Developmental Disorders 824
                      syndromic X-linked intellectual disability 619
                        female-restricted syndromic X-linked intellectual disability 99 1
paths to the root