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: Exfoliative Dermatitis
Accession: DOID:9006215
browse the term
Definition: The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)
Synonyms: exact_synonym: Dermatitis Exfoliativa; Erythroderma; Erythrodermas; Exfoliative Dermatitides
primary_id: MESH:D003873
xref: EFO:0009456
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Spink5
serine peptidase inhibitor Kazal type 5
ISO
ClinVar Annotator: match by term: Erythroderma
ClinVar
PMID:15304086 PMID:19683336 PMID:21255986 PMID:22089833 PMID:22377713 PMID:25665175 PMID:25741868 PMID:26229701 PMID:28289593 PMID:28492532 More...
NCBI chrNW_004936504:6,653,703...6,750,110
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Dsg1
desmoglein 1
ISO
ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME
OMIM ClinVar
PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chrNW_004936682:1,854,637...1,889,426
Ensembl chrNW_004936682:1,853,594...1,889,488
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Cdsn
corneodesmosin
ISO
ClinVar Annotator: match by term: KERATOLYSIS EXFOLIATIVA CONGENITA
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936837:787,035...791,388
Ensembl chrNW_004936837:787,301...791,388
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Cdsn
corneodesmosin
ISO
ClinVar Annotator: match by term: Peeling skin syndrome 1
OMIM ClinVar
PMID:2434123 PMID:20691404 PMID:21191406 PMID:22146835 PMID:23957618 PMID:25741868 PMID:28492532 PMID:31663161 PMID:31690835 More...
NCBI chrNW_004936837:787,035...791,388
Ensembl chrNW_004936837:787,301...791,388
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CUNH6orf15
chromosome unknown C6orf15 homolog
ISO
ClinVar Annotator: match by term: Peeling skin syndrome 1
ClinVar
PMID:31690835
NCBI chrNW_004936837:781,958...783,112
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Tgm5
transglutaminase 5
ISO
ClinVar Annotator: match by term: Peeling skin syndrome 1
ClinVar
PMID:22622422
NCBI chrNW_004936471:6,406,040...6,442,026
Ensembl chrNW_004936471:6,406,711...6,442,026
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Tgm5
transglutaminase 5
ISO
ClinVar Annotator: match by term: Acral peeling skin syndrome | ClinVar Annotator: match by term: Peeling skin syndrome 2
OMIM ClinVar
PMID:16380904 PMID:19440220 PMID:20164844 PMID:21469335 PMID:22036214 PMID:22622422 PMID:24019772 PMID:24628291 PMID:25644735 PMID:25741868 PMID:26091878 PMID:26707537 PMID:26925801 PMID:28492532 PMID:29242947 More...
NCBI chrNW_004936471:6,406,040...6,442,026
Ensembl chrNW_004936471:6,406,711...6,442,026
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Chst8
carbohydrate sulfotransferase 8
ISO
ClinVar Annotator: match by term: Peeling skin syndrome type A
ClinVar
PMID:22289416 PMID:25741868 PMID:28204496 PMID:28492532
NCBI chrNW_004936570:2,125,111...2,242,172
Ensembl chrNW_004936570:2,125,097...2,242,218
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Csta
cystatin A
ISO
ClinVar Annotator: match by term: Peeling skin syndrome 4
OMIM ClinVar
PMID:12890214 PMID:21944047 PMID:22066523 PMID:23534700 PMID:25400170
NCBI chrNW_004936536:8,649,890...8,662,472
Ensembl chrNW_004936536:8,649,703...8,662,490
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Krt2
keratin 2
ISO
ClinVar Annotator: match by term: Exfoliative ichthyosis
ClinVar
PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:10233323 PMID:26581228 PMID:28492532 PMID:29444371 PMID:31953843 More...
NCBI chrNW_004936512:10,054,708...10,061,021
Ensembl chrNW_004936512:10,054,708...10,061,021
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Cast
calpastatin
ISO
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
OMIM ClinVar
PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532
NCBI chrNW_004936523:6,688,153...6,798,184
Ensembl chrNW_004936523:6,686,519...6,798,321
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
ClinVar
PMID:3527073 PMID:25683118
NCBI chrNW_004936523:6,661,119...6,686,988
Ensembl chrNW_004936523:6,661,315...6,690,425
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