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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 RECESSIVE
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Accession:DOID:9002076 term browser browse the term
Definition:This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, spasticity, and behavioral abnormalities, most commonly aggressive behavior.
Synonyms:exact_synonym: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE;   USRISR;   autosomal recessive Usmani-Riazzudin syndrome
 primary_id: OMIM:619548
 alt_id: DOID:9006164



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USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1G1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:34102099 NCBI chr16:53,201,859...53,282,437
Ensembl chr16:71,568,863...71,648,744
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    Developmental Disease 17892
      Neurodevelopmental Disorders 6830
        USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE 1
Path 2
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      nervous system disease 13275
        peripheral nervous system disease 4020
          neuropathy 3829
            neuromuscular disease 3015
              muscular disease 2106
                Muscle Spasticity 119
                  USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE 1
paths to the root