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 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 .
G
Cdsn
corneodesmosin
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr20:3,704,626...3,707,266
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
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
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
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
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
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
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
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
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
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
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
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