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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:SIDDIQI SYNDROME
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Accession:DOID:9002405 term browser browse the term
Definition:An autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI).
Synonyms:exact_synonym: DEAFNESS, DYSTONIA, DEVELOPMENTAL DELAY, AND POOR GROWTH;   SIDDIS
 primary_id: OMIM:618635
For additional species annotation, visit the Alliance of Genome Resources.


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SIDDIQI SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: SIDDIQI SYNDROME OMIM
ClinVar
PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Neurodevelopmental Disorders 5688
        Developmental Disabilities 560
          SIDDIQI SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1341
            auditory system disease 908
              Hearing Disorders 738
                Hearing Loss 734
                  Deafness 385
                    SIDDIQI SYNDROME 1
paths to the root