Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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: IBS;   KRT2-RELATED CONDITION;   Siemens ichthyosis bullosa;   bullous type ichthyoses;   bullous type ichthyosis;   bullous type ichthyosis of Siemens;   bullous type of ichthyosis;   ichthyosis bullosa of Siemens;   superficial epidermolytic ichthyosis
 narrow_synonym: ichthyosis exfoliativa
 primary_id: MESH:D053560
 alt_id: MIM:146800
 xref: GARD:2966;   NCI:C84777;   ORDO:455


show annotations for term's descendants           Sort by:
bullous congenital ichthyosiform erythroderma 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 bullous ichthyosiform erythroderma ClinVar PMID:12406348 PMID:25741868 PMID:28492532 PMID:30288772 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 bullous ichthyosiform erythroderma ClinVar PMID:1380725 PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 More... NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
G Krt2 keratin 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:146800
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition | ClinVar Annotator: match by term: Superficial epidermolytic ichthyosis		 OMIM
CTD
MouseDO
ClinVar		 PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 More... NCBI chr 7:132,940,879...132,948,031
Ensembl chr 7:132,940,862...132,947,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      skin disease 4320
        Genetic Skin Diseases 1889
          bullous congenital ichthyosiform erythroderma 3
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              keratosis 189
                ichthyosis 95
                  bullous congenital ichthyosiform erythroderma 3
paths to the root