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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: 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: Siddiqi syndrome OMIM
ClinVar
PMID:25741868 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 19072
    Developmental Disease 14560
      Neurodevelopmental Disorders 6892
        Developmental Disabilities 785
          Siddiqi syndrome 1
Path 2
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      nervous system disease 14222
        Neurologic Manifestations 10288
          sensory system disease 7197
            Otorhinolaryngologic Diseases 1781
              auditory system disease 1040
                Hearing Disorders 829
                  Hearing Loss 824
                    Deafness 374
                      Siddiqi syndrome 1
paths to the root