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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 peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene. (DO)
Synonyms:exact_synonym: PSS;   deciduous skin;   familial continuous generalized skin peeling;   keratolysis exfoliativa congenita
 primary_id: MESH:C564818
 alt_id: RDO:0013651
 xref: OMIM:PS270300;   ORDO:263543
For additional species annotation, visit the Alliance of Genome Resources.

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 CTD Direct Evidence: marker/mechanism CTD NCBI chr20:3,704,626...3,707,266 JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:90,542,095...90,685,257
Ensembl chr 1:90,542,096...90,685,257 		JBrowse link
G Serpinb8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:27,876,662...27,914,038
Ensembl chr13:27,889,345...27,914,006 		JBrowse link
Peeling Skin Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr20:3,704,626...3,707,266 JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:22622422 NCBI chr 3:112,995,469...113,033,110
Ensembl chr 3:112,995,568...113,023,532 		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 OMIM:609796
ClinVar Annotator: match by term: Peeling skin syndrome 2
ClinVar Annotator: match by term: Peeling skin syndrome, acral type		 ClinVar
OMIM		 PMID:16380904 PMID:19440220 PMID:20164844 PMID:21469335 PMID:22036214 PMID:22622422 PMID:24019772 PMID:24628291 PMID:25644735 PMID:26091878 PMID:26707537 PMID:26925801 PMID:28492532 PMID:29242947 NCBI chr 3:112,995,469...113,033,110
Ensembl chr 3:112,995,568...113,023,532 		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 3 OMIM
ClinVar		 PMID:22289416 PMID:28492532 NCBI chr 1:90,542,095...90,685,257
Ensembl chr 1:90,542,096...90,685,257 		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 OMIM:607936 OMIM
ClinVar		 PMID:12890214 PMID:21944047 PMID:22066523 PMID:23534700 PMID:25400170 NCBI chr11:67,555,792...67,566,980
Ensembl chr11:67,555,658...67,566,972 		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 ClinVar
OMIM		 PMID:27476651 NCBI chr13:27,876,662...27,914,038
Ensembl chr13:27,889,345...27,914,006 		JBrowse link
Peeling Skin Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flg2 filaggrin family member 2 ISO ClinVar Annotator: match by term: PEELING SKIN SYNDROME 6
ClinVar Annotator: match by term: Peeling skin syndrome 6		 ClinVar
OMIM		 PMID:25741868 PMID:28884927 PMID:29505760 PMID:29758285 NCBI chr 2:193,480,880...193,485,463
Ensembl chr 2:193,483,793...193,485,313 		JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO ClinVar Annotator: match by OMIM:616295 ClinVar
OMIM		 PMID:3527073 PMID:25683118 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464 		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 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      peeling skin syndrome 8
        PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
        Peeling Skin Syndrome 1 2
        Peeling Skin Syndrome 2 1
        Peeling Skin Syndrome 3 1
        Peeling Skin Syndrome 4 1
        Peeling Skin Syndrome 5 1
        Peeling Skin Syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            dermatitis 429
              Exfoliative Dermatitis 10
                peeling skin syndrome 8
                  PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
                  Peeling Skin Syndrome 1 2
                  Peeling Skin Syndrome 2 1
                  Peeling Skin Syndrome 3 1
                  Peeling Skin Syndrome 4 1
                  Peeling Skin Syndrome 5 1
                  Peeling Skin Syndrome 6 1
paths to the root