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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:Keratitis-Ichthyosis-Deafness Syndrome
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Accession:DOID:9005709 term browser browse the term
Synonyms:exact_synonym: keratitis, ichthyosis, and deafness
 primary_id: MESH:C580224
 xref: OMIM:PS148210
For additional species annotation, visit the Alliance of Genome Resources.


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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: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:9285800 PMID:9819448 PMID:10049954 PMID:10508996 PMID:10596881 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
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 p.S17F(mouse)
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis, Ichthyosis, and Deafness (KID) Syndrome
DNA:mutations:cds:p.G11E,p.D50N(human)
DNA:mutation:cds:p.N14K(human)
p.G45E(mouse)
DNA:mutation:cds:p.D50N (human)
ClinVar Annotator: match by OMIM:148210
ClinVar
OMIM
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 More... RGD:7364809, RGD:7364811, RGD:7364813, RGD:7364889, RGD:7364885 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
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:25741868 PMID:31630788 PMID:31630791 NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Keratitis-Ichthyosis-Deafness Syndrome 2
        Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
        autosomal dominant keratitis-ichthyosis-deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1342
            auditory system disease 909
              Hearing Disorders 739
                Hearing Loss 735
                  Deafness 385
                    Keratitis-Ichthyosis-Deafness Syndrome 2
                      Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
                      autosomal dominant keratitis-ichthyosis-deafness syndrome 1
paths to the root