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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:autosomal dominant keratitis-ichthyosis-deafness syndrome
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Accession:DOID:0060871 term browser browse the term
Definition:A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (DO)
Synonyms:exact_synonym: KID syndrome;   autosomal dominant KID syndrome;   keratitis, ichthyosis, and deafness (KID) syndrome
 primary_id: MESH:C536168
 alt_id: OMIM:148210
 xref: ICD10CM:Q80.8;   ORDO:477


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autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Keratitis-Ichthyosis-Deafness Syndrome 2
        autosomal dominant keratitis-ichthyosis-deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            Otorhinolaryngologic Diseases 1674
              auditory system disease 950
                Hearing Disorders 774
                  Hearing Loss 769
                    Deafness 369
                      Keratitis-Ichthyosis-Deafness Syndrome 2
                        autosomal dominant keratitis-ichthyosis-deafness syndrome 1
paths to the root