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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:Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
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Accession:DOID:9000149 term browser browse the term
Definition:A disease characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Caused by homozygous or compound heterozygous mutation in the VPS33B gene on chromosome 15q26.
Synonyms:exact_synonym: KDIDAR
 primary_id: OMIM:620009


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Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10H12orf43 chromosome 10 C12orf43 homolog ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:118,583,873...118,599,866
Ensembl chr12:121,955,849...121,969,658 		JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28017832 NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    sensory system disease 6706
      skin disease 3857
        keratosis 181
          ichthyosis 89
            Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 3
Path 2
Term Annotations click to browse term
  disease 15697
    Pathological Conditions, Signs and Symptoms 12081
      Signs and Symptoms 10025
        Neurologic Manifestations 9706
          sensory system disease 6706
            Otorhinolaryngologic Diseases 1678
              auditory system disease 941
                Hearing Disorders 767
                  Hearing Loss 761
                    sensorineural hearing loss 576
                      Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 3
paths to the root