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Metadata
ID DOID:0050474
Name Netherton syndrome
Definition An autosomal recessive 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
Xrefs

GARD:7182

MESH:D056770

NCI:C84922

OMIM:256500

ORDO:634

SNOMEDCT_US_2018_03_01:34638006

SNOMEDCT_US_2018_03_01:54336006

UMLS_CUI:C0265962

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is_a autosomal recessive disease

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