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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      skin disease 2749
        ichthyosis 113
          bullous congenital ichthyosiform erythroderma 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Skin Abnormalities 658
              ichthyosis 113
                bullous congenital ichthyosiform erythroderma 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.