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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;   ICHTHYOSIS LINEARIS CIRCUMFLEXA;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:256500
ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 More... NCBI chr18:36,264,452...36,333,143
Ensembl chr18:36,264,452...36,332,185 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Netherton syndrome 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Skin Abnormalities 1296
                ichthyosis 91
                  autosomal recessive congenital ichthyosis 51
                    Netherton syndrome 3
paths to the root