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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:Reticular Erythrokeratoderma
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Accession:DOID:9006224 term browser browse the term
Synonyms:exact_synonym: Aarau disease;   CRIE;   IWC;   MAUIE;   Mauie syndrome;   congenital reticular ichthyosiform erythroderma;   ichthyosis variegata micropinnae, alopecia universalis, congenital ichthyosis, and ectropion;   ichthyosis with confetti
 xref: MESH:C563781;   MIM:609165;   MONDO:0012208;   ORDO:281190


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Reticular Erythrokeratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma ClinVar PMID:25774499 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
G Krt10 keratin 10 ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma | ClinVar Annotator: match by term: ICHTHYOSIS WITH CONFETTI OMIM
ClinVar		 PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:9418775 More... NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    physical disorder 5183
      autosomal recessive congenital ichthyosis 57
        Reticular Erythrokeratoderma 2
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        Neurologic Manifestations 10336
          sensory system disease 7249
            skin disease 4196
              Skin Abnormalities 1319
                ichthyosis 97
                  autosomal recessive congenital ichthyosis 57
                    Reticular Erythrokeratoderma 2
paths to the root