OBO ID: DOID:0050474
Term Name: Netherton syndrome Search Ontology:
Synonyms:
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. https://ghr.nlm.nih.gov/condition/netherton-syndrome
References:
  • GARD:7182
  • OMIM:256500
  • ORDO:634
  • SNOMEDCT_US_2023_03_01:312514006
  • UMLS_CUI:C0265962
Ontology: Human Disease   ( DOID:0050474 )
Relationships
is a type of:
OTHER Netherton syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPINK5 Netherton syndrome
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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