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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;   MONDO:0007239;   NCI:C62569;   OMIM:PS113800;   OMIM:PS607602
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 IAGP ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma ClinVar PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G GJB3 gap junction protein beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G JUP junction plakoglobin ISS OMIM:113800 MouseDO NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KRT1 keratin 1 susceptibility IAGP
ISS
EXP		 DNA:mutation: ; 5191/5192GG>A
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1284546 PMID:1380725 PMID:1381288 PMID:12406348 PMID:12648226 More... RGD:1600166 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT10 keratin 10 susceptibility IAGP
ISS		 DNA:mutations:cds: p.R156C (human)
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic Hyperkeratosis
OMIM:113800
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq		 ClinVar
MouseDO
RGD		 PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7509230 More... RGD:1600168 NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		JBrowse link
G KRT10-AS1 KRT10 antisense RNA 1 IAGP ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq		 ClinVar PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7509230 More... NCBI chr17:40,819,145...40,836,274
Ensembl chr17:40,819,101...40,836,270 		JBrowse link
G LOC126862559 BRD4-independent group 4 enhancer GRCh37_chr17:38975907-38977106 IAGP ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma ClinVar PMID:20302579 NCBI chr17:40,819,655...40,820,854 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 IAGP ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 More... NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT10 keratin 10 EXP
IAGP		 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 chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		JBrowse link
G KRT10-AS1 KRT10 antisense RNA 1 IAGP ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More... NCBI chr17:40,819,145...40,836,274
Ensembl chr17:40,819,101...40,836,270 		JBrowse link
Annular Epidermolytic Ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT10 keratin 10 IAGP OMIM NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		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 IAGP ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 OMIM
ClinVar		 PMID:10053007 PMID:15214894 PMID:16227096 PMID:22250628 PMID:25741868 More... NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		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 IAGP ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1 OMIM
ClinVar		 PMID:25741868 PMID:30288772 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		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 IAGP ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2 OMIM
ClinVar		 PMID:25741868 PMID:25741905 NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		JBrowse link
G KRT10-AS1 KRT10 antisense RNA 1 IAGP ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2 ClinVar PMID:25741868 PMID:25741905 NCBI chr17:40,819,145...40,836,274
Ensembl chr17:40,819,101...40,836,270 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9728
      skin disease 4874
        Genetic Skin Diseases 2469
          epidermolytic hyperkeratosis 9
            Annular Epidermolytic Ichthyosis + 3
            Epidermolytic Hyperkeratosis, Late-Onset 0
            epidermolytic hyperkeratosis 1 1
            epidermolytic hyperkeratosis 2 2
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9728
            skin disease 4874
              Skin Abnormalities 1802
                ichthyosis 153
                  epidermolytic hyperkeratosis 9
                    Annular Epidermolytic Ichthyosis + 3
                    Epidermolytic Hyperkeratosis, Late-Onset 0
                    epidermolytic hyperkeratosis 1 1
                    epidermolytic hyperkeratosis 2 2
paths to the root