ONTOLOGY REPORT - ANNOTATIONS


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
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peeling skin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdsn corneodesmosin JBrowse link 20 3,704,626 3,707,266 RGD:8554872
RGD:11554173
G Chst8 carbohydrate sulfotransferase 8 JBrowse link 1 90,542,095 90,685,257 RGD:11554173
G Serpinb8 serpin family B member 8 JBrowse link 13 27,876,662 27,914,038 RGD:11554173
G Tgm5 transglutaminase 5 JBrowse link 3 112,995,469 113,033,110 RGD:8554872
Peeling Skin Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdsn corneodesmosin JBrowse link 20 3,704,626 3,707,266 RGD:7240710
Peeling Skin Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgm5 transglutaminase 5 JBrowse link 3 112,995,469 113,033,110 RGD:8554872
RGD:7240710
Peeling Skin Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst8 carbohydrate sulfotransferase 8 JBrowse link 1 90,542,095 90,685,257 RGD:7240710
RGD:8554872
Peeling Skin Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csta cystatin A JBrowse link 11 67,555,792 67,566,980 RGD:7240710
RGD:8554872
Peeling Skin Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinb8 serpin family B member 8 JBrowse link 13 27,876,662 27,914,038 RGD:8554872
RGD:7240710
Peeling Skin Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flg2 filaggrin family member 2 JBrowse link 2 193,480,880 193,485,463 RGD:8554872
RGD:7240710
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:8554872
RGD:7240710
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 1,410,877 1,449,734 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      peeling skin syndrome 8
        PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
        Peeling Skin Syndrome 1 1
        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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            dermatitis 351
              Exfoliative Dermatitis 10
                peeling skin syndrome 8
                  PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
                  Peeling Skin Syndrome 1 1
                  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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