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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:peeling skin syndrome
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Accession:DOID:0060283 term browser 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;   MIM:PS270300;   ORDO:263543;   ORDO:817


show annotations for term's descendants           Sort by:
peeling skin syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDSN corneodesmosin ISO ClinVar Annotator: match by term: KERATOLYSIS EXFOLIATIVA CONGENITA ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:30,861,199...30,867,082
Ensembl chr 6:31,727,090...31,731,976 		JBrowse link
G LOC129397943 uncharacterized LOC129397943 ISO ClinVar Annotator: match by term: KERATOLYSIS EXFOLIATIVA CONGENITA ClinVar PMID:25741868 PMID:28492532 Ensembl chr 6:31,726,297...31,751,426 JBrowse link
G SERPINB8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:57,313,562...57,373,502
Ensembl chr18:60,634,206...60,669,118 		JBrowse link
peeling skin syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H6orf15 chromosome 5 C6orf15 homolog ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:31690835 NCBI chr 6:30,857,286...30,858,695
Ensembl chr 6:31,722,844...31,724,084 		JBrowse link
G CDSN corneodesmosin ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 OMIM
ClinVar		 PMID:2434123 PMID:20691404 PMID:21191406 PMID:22146835 PMID:23957618 More... NCBI chr 6:30,861,199...30,867,082
Ensembl chr 6:31,727,090...31,731,976 		JBrowse link
G LOC129397943 uncharacterized LOC129397943 ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:2434123 PMID:20691404 PMID:21191406 PMID:22146835 PMID:23957618 More... Ensembl chr 6:31,726,297...31,751,426 JBrowse link
G TGM5 transglutaminase 5 ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:22622422 NCBI chr15:22,193,639...22,227,977
Ensembl chr15:40,349,085...40,382,737 		JBrowse link
peeling skin syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr15:22,193,639...22,227,977
Ensembl chr15:40,349,085...40,382,737 		JBrowse link
peeling skin syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr19:30,549,667...30,705,452
Ensembl chr19:39,354,974...39,445,592 		JBrowse link
peeling skin syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 3:119,417,489...119,432,244
Ensembl chr 3:126,323,901...126,338,430 		JBrowse link
G KRT2 keratin 2 ISO ClinVar Annotator: match by term: Exfoliative ichthyosis ClinVar PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:10233323 More... NCBI chr12:36,111,978...36,119,684
Ensembl chr12:36,889,619...36,896,813 		JBrowse link
peeling skin syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr18:57,313,562...57,373,502
Ensembl chr18:60,634,206...60,669,118 		JBrowse link
PLACK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650 		JBrowse link
G 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 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    syndrome 10517
      peeling skin syndrome 10
        PLACK syndrome 2
        peeling skin syndrome 1 4
        peeling skin syndrome 2 1
        peeling skin syndrome 3 1
        peeling skin syndrome 4 2
        peeling skin syndrome 5 1
        peeling skin syndrome 6 0
Path 2
Term Annotations click to browse term
  disease 15753
    Pathological Conditions, Signs and Symptoms 12237
      Signs and Symptoms 10245
        Neurologic Manifestations 9940
          sensory system disease 6934
            skin disease 4007
              dermatitis 519
                Exfoliative Dermatitis 12
                  peeling skin syndrome 10
                    PLACK syndrome 2
                    peeling skin syndrome 1 4
                    peeling skin syndrome 2 1
                    peeling skin syndrome 3 1
                    peeling skin syndrome 4 2
                    peeling skin syndrome 5 1
                    peeling skin syndrome 6 0
paths to the root