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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 C12orf43 chromosome 12 open reading frame 43 IAGP ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28017832 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    sensory system disease 9761
      skin disease 4885
        keratosis 265
          ichthyosis 153
            Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 3
Path 2
Term Annotations click to browse term
  disease 35754
    Pathological Conditions, Signs and Symptoms 21490
      Signs and Symptoms 16343
        Neurologic Manifestations 15411
          sensory system disease 9761
            Otorhinolaryngologic Diseases 2288
              auditory system disease 1342
                Hearing Disorders 1142
                  Hearing Loss 1136
                    sensorineural hearing loss 906
                      Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 3
paths to the root