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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:Ichthyosiform Erythroderma, Corneal Involvement, Deafness
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Accession:DOID:9007169 term browser browse the term
Synonyms:exact_synonym: Desmons syndrome;   Ichthyosiform erythroderma, corneal involvement, and deafness;   Keratitis-ichthyosis-deafness syndrome, autosomal recessive;   Kid syndrome, autosomal recessive
 primary_id: MESH:C537363
 alt_id: OMIM:242150
For additional species annotation, visit the Alliance of Genome Resources.


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Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome ClinVar
OMIM
PMID:31630788, PMID:31630791 NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Keratitis-Ichthyosis-Deafness Syndrome 2
        Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  Deafness 276
                    Keratitis-Ichthyosis-Deafness Syndrome 2
                      Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.