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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:epidermolytic hyperkeratosis
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Accession:DOID:4603 term browser browse the term
Definition:An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth. (DO)
Synonyms:exact_synonym: BCIE;   BIE;   EHK;   bullous congenital ichthyosiform erythroderma;   bullous erythroderma ichthyosiforme;   bullous erythroderma ichthyosiformis congenita of Brocq;   bullous ichthyosiform erythroderma;   bullous ichthyosiform erythrodermas;   epidermolytic hyperkeratoses;   epidermolytic ichthyosis;   epidermolytic palmoplantar hyperkeratosis
 primary_id: MESH:D017488
 alt_id: OMIA:001415
 xref: EFO:0004137;   GARD:1039;   ICD10CM:Q80.3;   MIM:PS113800;   MIM:PS607602;   MONDO:0007239;   NCI:C62569
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
epidermolytic hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolytic ichthyosis ClinVar PMID:28492532 NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
G Jup junction plakoglobin ISS OMIM:113800 MouseDO NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Krt1 keratin 1 susceptibility ISO
ISS		 DNA:mutation: ; 5191/5192GG>A
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic ichthyosis
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1284546 PMID:1380725 PMID:1381288 PMID:12406348 PMID:12648226 More... RGD:1600166 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
G Krt10 keratin 10 susceptibility ISO
ISS		 DNA:mutations:cds: p.R156C (human)
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic ichthyosis
OMIM:113800		 ClinVar
MouseDO
RGD		 PMID:1380725 PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 More... RGD:1600168 NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
Annular Epidermolytic Ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis		 CTD
ClinVar		 PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More... NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
Annular Epidermolytic Ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic 1 ClinVar PMID:25741868 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: Ichthyosis, annular epidermolytic 1 OMIM
ClinVar		 PMID:9856845 PMID:28492532 NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
Annular Epidermolytic Ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 OMIM
ClinVar		 PMID:10053007 PMID:15214894 PMID:16227096 PMID:22250628 PMID:25741868 More... NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
epidermolytic hyperkeratosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1 OMIM
ClinVar		 PMID:25741868 PMID:26581228 PMID:30288772 PMID:33363884 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: Epidermolytic hyperkeratosis 1 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
epidermolytic hyperkeratosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2A, autosomal dominant | ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2B, autosomal recessive OMIM
ClinVar		 PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7509230 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 19106
    sensory system disease 7336
      skin disease 4312
        Genetic Skin Diseases 1881
          epidermolytic hyperkeratosis 7
            Annular Epidermolytic Ichthyosis + 2
            Epidermolytic Hyperkeratosis, Late-Onset 0
            epidermolytic hyperkeratosis 1 2
            epidermolytic hyperkeratosis 2 1
Path 2
Term Annotations click to browse term
  disease 19106
    Pathological Conditions, Signs and Symptoms 13615
      Signs and Symptoms 11199
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              Skin Abnormalities 1315
                ichthyosis 94
                  epidermolytic hyperkeratosis 7
                    Annular Epidermolytic Ichthyosis + 2
                    Epidermolytic Hyperkeratosis, Late-Onset 0
                    epidermolytic hyperkeratosis 1 2
                    epidermolytic hyperkeratosis 2 1
paths to the root