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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:0081273 term browser browse the term
Definition:A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: FITM2-RELATED CONDITION;   SIDDIS;   deafness, dystonia, developmental delay, and poor growth
 alt_id: DOID:9002405
 xref: EFO:0010633;   MIM:618635;   MONDO:0032842


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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: FITM2-related condition | ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr 3:172,560,781...172,567,291
Ensembl chr 3:152,141,346...152,147,858 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Neurodevelopmental Disorders 6969
        Developmental Disabilities 764
          Siddiqi syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            Otorhinolaryngologic Diseases 1797
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    Deafness 386
                      Siddiqi syndrome 1
paths to the root