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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 3:159,856,994...159,863,506
Ensembl chr 3:159,856,994...159,863,506
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Neurodevelopmental Disorders 4582
        Developmental Disabilities 679
          SIDDIQI SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Deafness 270
                    SIDDIQI SYNDROME 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.