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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME
ClinVar Annotator: match by term: Netherton disease
ClinVar Annotator: match by term: Netherton syndrome
ClinVar Annotator: match by OMIM:256500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10835624, PMID:11511292, PMID:11544479, PMID:11841556, PMID:12752122, PMID:16601670, PMID:16628198, PMID:17415575, PMID:19683336, PMID:20107740, PMID:20657595, PMID:21564178, PMID:22089833, PMID:22377713, PMID:24015757, PMID:24033266, PMID:25665175, PMID:25710899, PMID:25741868, PMID:25819062, PMID:25917539, PMID:26031502, PMID:26865388, PMID:27988933, PMID:28289593, PMID:28492532, PMID:28832562, PMID:28832989, PMID:28943498, PMID:30293248, PMID:30311386 NCBI chr18:35,118,300...35,190,458
Ensembl chr18:35,121,967...35,191,069
Ensembl chr 1:35,121,967...35,191,069
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Netherton syndrome 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              ichthyosis 114
                autosomal recessive congenital ichthyosis 29
                  Netherton syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.