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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
 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 chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250 		JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900 		JBrowse link
G Serpinb8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:23,626,945...23,650,270
Ensembl chr13:23,626,945...23,650,835 		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 More... NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:22622422 NCBI chr 3:108,008,087...108,014,813
NCBI chr 3:108,028,742...108,048,946
Ensembl chr 3:108,008,143...108,043,976 		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 OMIM
ClinVar		 PMID:16380904 PMID:19440220 PMID:20164844 PMID:21469335 PMID:22036214 More... NCBI chr 3:108,008,087...108,014,813
NCBI chr 3:108,028,742...108,048,946
Ensembl chr 3:108,008,143...108,043,976 		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:25741868 PMID:28492532 NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900 		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 chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488 		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 chr13:23,626,945...23,650,270
Ensembl chr13:23,626,945...23,650,835 		JBrowse link
Peeling Skin Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flg2 filaggrin 2 ISO ClinVar Annotator: match by term: Peeling skin syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28884927 PMID:29505760 PMID:29758285 NCBI chr 2:178,789,792...178,802,232 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 term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads OMIM
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 		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 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      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 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Eczematous Skin Diseases 266
                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