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GTR Home > Conditions/Phenotypes > Inflammatory skin and bowel disease, neonatal, 1

Inflammatory skin and bowel disease, neonatal, 1

Summary

Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. [from MONDO]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADAM18, CD156B, CSVP, NISBD, NISBD1, TACE, ADAM17
    Summary: ADAM metallopeptidase domain 17

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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