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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
OMIM
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 16108
    syndrome 6992
      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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            dermatitis 370
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.