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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:bullous congenital ichthyosiform erythroderma
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Accession:DOID:0060877 term browser browse the term
Definition:An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: Bullous Type Ichthyosis;   Bullous Type of Ichthyosis;   IBS;   Siemens ichthyosis bullosa;   bullous type ichthyoses;   bullous type ichthyosis of Siemens;   ichthyosis bullosa of Siemens;   superficial epidermolytic ichthyosis
 narrow_synonym: ichthyosis exfoliativa
 primary_id: MESH:D053560
 alt_id: OMIM:146800
 xref: GARD:2966;   NCI:C84777;   ORDO:455
For additional species annotation, visit the Alliance of Genome Resources.

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bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt2 keratin 2 ISO ClinVar Annotator: match by OMIM:146800
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens		 OMIM
ClinVar		 PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:9204966 PMID:9804344 PMID:10233323 PMID:10620137 PMID:11531804 PMID:28492532 NCBI chr 7:143,412,858...143,420,463
Ensembl chr 7:143,412,858...143,420,027 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      skin disease 2714
        ichthyosis 62
          bullous congenital ichthyosiform erythroderma 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          skin disease 2714
            Skin Abnormalities 617
              ichthyosis 62
                bullous congenital ichthyosiform erythroderma 1
paths to the root