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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 chr19:37,744,633...37,831,134
Ensembl chr19:37,744,633...37,829,167
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Neurodevelopmental Disorders 6821
        USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        peripheral nervous system disease 4086
          neuropathy 3871
            neuromuscular disease 3045
              muscular disease 2133
                Muscle Spasticity 120
                  USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE 1
paths to the root