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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:USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
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Accession:DOID:9000636 term browser browse the term
Definition:This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior.
Synonyms:exact_synonym: USRISD;   autosomal dominant Usmani-Riazzudin syndrome
 primary_id: OMIM:619467


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USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1g1 adaptor protein complex AP-1, gamma 1 subunit ISO ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:34102099 NCBI chr 8:110,505,215...110,590,842
Ensembl chr 8:110,505,186...110,590,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Neurodevelopmental Disorders 6891
        USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              Neurodevelopmental Disorders 6891
                USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT 1
paths to the root