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: peeling skin syndrome
Accession: DOID:0060283
browse the term
Definition: A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. (DO)
Synonyms: exact_synonym: PSS; deciduous skin; familial continuous generalized skin peeling; familial continuous skin peeling syndrome; keratolysis exfoliativa congenita; keratosis exfoliativa congenita; peeling skin disease
primary_id: MESH:C564818
xref: GARD:7347 ; OMIM:PS270300 ; ORDO:263543 ; ORDO:817
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Cdsn
corneodesmosin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: KERATOLYSIS EXFOLIATIVA CONGENITA
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250
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Serpinb8
serpin family B member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
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C20h6orf15
similar to human chromosome 6 open reading frame 15
ISO
ClinVar Annotator: match by term: Peeling skin syndrome 1
ClinVar
PMID:31690835
NCBI chr20:3,172,330...3,173,886
Ensembl chr20:3,172,330...3,173,886
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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 chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250
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Tgm5
transglutaminase 5
ISO
ClinVar Annotator: match by term: Peeling skin syndrome 1
ClinVar
PMID:22622422
NCBI chr 3:108,008,087...108,044,013
Ensembl chr 3:108,008,143...108,043,976
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Tgm5
transglutaminase 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acral peeling skin syndrome | ClinVar Annotator: match by term: Peeling skin syndrome 2
OMIM CTD 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 chr 3:108,008,087...108,044,013
Ensembl chr 3:108,008,143...108,043,976
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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 chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900
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Csta
cystatin A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peeling skin syndrome 4
OMIM CTD ClinVar
PMID:12890214 PMID:21944047 PMID:22066523 PMID:23534700 PMID:25400170
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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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 chr 7:132,940,879...132,948,031
Ensembl chr 7:132,940,862...132,947,963
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Serpinb8
serpin family B member 8
ISO
ClinVar Annotator: match by term: Peeling skin syndrome 5
OMIM ClinVar
PMID:25741868 PMID:27476651 PMID:28492532
NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
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Flg2
filaggrin 2
ISO
ClinVar Annotator: match by term: Peeling skin syndrome 6
OMIM ClinVar
PMID:25741868 PMID:28884927 PMID:29505760 PMID:29758285 PMID:36403663
NCBI chr 2:178,789,792...178,802,232
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Cast
calpastatin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
OMIM CTD ClinVar
PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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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 chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all