ONTOLOGY REPORT - ANNOTATIONS


Term:Netherton syndrome
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Accession:DOID:0050474 term browser browse the term
Definition:Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.
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;   RDO:0007758
 xref: GARD:7182
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Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link 18 12,056,113 12,092,858 RGD:13592920
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
RGD:8554872
RGD:11554173
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:11554173

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Path 1
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  disease 14875
    syndrome 4220
      Netherton syndrome 4
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Skin Abnormalities 344
              ichthyosis 54
                autosomal recessive congenital ichthyosis 27
                  Netherton syndrome 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.