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DO Term : Netherton syndrome [DOID:0050474] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C0265962,
  • GARD:7182,
  • SNOMEDCT_US_2023_03_01:312514006,
  • ORDO:634,
  • 256500,
  • OMIM:256500
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents