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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:Kilquist Syndrome
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Accession:DOID:9006128 term browser browse the term
Definition:An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. (OMIM)
Synonyms:exact_synonym: KILQS
 primary_id: MIM:619080


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Kilquist Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30740830 PMID:32658972 PMID:32754646 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Kilquist Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1052
                Hearing Disorders 840
                  Hearing Loss 835
                    sensorineural hearing loss 642
                      Kilquist Syndrome 1
paths to the root