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Term:Netherton syndrome
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Accession:DOID:0050474 term browser browse the term
Definition:A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. (DO)
Synonyms:exact_synonym: Comel-Netherton syndrome;   NETH;   NS;   Netherton disease;   ichthyosiform erythroderma with hypotrichosis and hyper-IgE
 primary_id: MESH:D056770
 alt_id: OMIM:256500
 xref: GARD:7182;   NCI:C84922;   ORDO:634
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Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:5508433
G Spink5 serine peptidase inhibitor, Kazal type 5 JBrowse link 18 35,118,300 35,190,458 RGD:7240710
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      Netherton syndrome 3
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          skin disease 2495
            Skin Abnormalities 508
              ichthyosis 57
                autosomal recessive congenital ichthyosis 29
                  Netherton syndrome 3
paths to the root


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