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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Fitm2 fat storage-inducing transmembrane protein 2 JBrowse link 3 159,856,994 159,863,506 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        Developmental Disabilities 379
          SIDDIQI SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        sensory system disease 4663
          Otorhinolaryngologic Diseases 1083
            auditory system disease 691
              Hearing Disorders 574
                Hearing Loss 570
                  Deafness 257
                    SIDDIQI SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.